Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ABCA1 19 broad.mit.edu 37 9 107618338 107618338 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:107618338C>G ENST00000423487.2 - 8 1048 c.752G>C c.(751-753)gGg>gCg p.G251A ABCA1_ENST00000374736.3_Intron O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 0 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTTAACTGCCCATGTGCAAT 0.423000 21 33 0 0 0.234183 0 0 SEC22B 9554 broad.mit.edu 37 1 145115775 145115775 + RNA SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:145115775G>C ENST00000453618.1 + 0 861 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding GTCTGTCCAAGAAATACCGCC 0.383000 15 109 0 0 0.146539 0 0 FAT3 120114 broad.mit.edu 37 11 92531578 92531578 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:92531578C>A ENST00000298047.6 + 9 5416 c.5399C>A c.(5398-5400)gCc>gAc p.A1800D FAT3_ENST00000409404.2_Missense_Mutation_p.A1800D|FAT3_ENST00000525166.1_Missense_Mutation_p.A1650D Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1800 Cadherin 16. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.A1800D(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGATTCGAGCCACAGATGCT 0.473000 TCGA Ovarian(4;0.039) 14 14 1.3612e-06 1.46653e-06 0.132662 1 0 RYR2 6262 broad.mit.edu 37 1 237732601 237732601 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:237732601G>A ENST00000366574.2 + 29 3897 c.3580G>A c.(3580-3582)Gac>Aac p.D1194N RYR2_ENST00000360064.6_Missense_Mutation_p.D1192N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1178N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1194 4 X approximate repeats.|B30.2/SPRY 2. 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.D1192N(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) GGCTTTCAAGGACTTTGATGT 0.438000 13 32 0 0 0.093190 0 0 EMR1 2015 broad.mit.edu 37 19 6908779 6908779 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:6908779T>C ENST00000312053.4 + 10 1155 c.1118T>C c.(1117-1119)cTg>cCg p.L373P EMR1_ENST00000381407.5_Missense_Mutation_p.L232P|EMR1_ENST00000381404.4_Missense_Mutation_p.L321P|EMR1_ENST00000250572.8_Missense_Mutation_p.L373P|EMR1_ENST00000450315.3_Missense_Mutation_p.L196P NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 373 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity p.L373P(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GTAGTTTCTCTGAAGGTAACG 0.408000 49 35 0 0 0.139131 0 0 CYLC2 1539 broad.mit.edu 37 9 105767808 105767808 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:105767808G>T ENST00000374798.3 + 5 965 c.895G>T c.(895-897)Gat>Tat p.D299Y CYLC2_ENST00000487798.1_Missense_Mutation_p.D299Y NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 299 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.D299Y(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) cgccacgaaagatgccaagaa 0.388000 4 4 0.000602214 0.000621087 0.184627 1 0 SEMA3G 56920 broad.mit.edu 37 3 52472194 52472194 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:52472194G>A ENST00000231721.2 - 14 1530 c.1531C>T c.(1531-1533)Cgg>Tgg p.R511W NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 511 Sema. multicellular organismal development extracellular region|membrane receptor activity p.R511W(1) kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) ACACCCAGCCGAGAGCCCACG 0.647000 7 1 0 0 0.132662 0 0 SLC52A3 113278 broad.mit.edu 37 20 746287 746287 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:746287G>A ENST00000381944.3 - 2 373 c.132C>T c.(130-132)ctC>ctT p.L44L SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Silent_p.L44L Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 44 sensory perception of sound integral to plasma membrane riboflavin transporter activity p.L44L(1) TGACCACCGTGAGGTAGGAGG 0.632000 8 18 0 0 0.047766 0 0 MYCBP2 23077 broad.mit.edu 37 13 77663032 77663032 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:77663032C>G ENST00000407578.2 - 61 10926 c.10660G>C c.(10660-10662)Gaa>Caa p.E3554Q MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3516Q|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3516Q NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.E3554Q(1)|p.E3516Q(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCAAGACCTTCTAGATCATGA 0.388000 32 51 0 0 0.163468 0 0 BRINP1 1620 broad.mit.edu 37 9 121929385 121929385 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:121929385G>T ENST00000265922.3 - 8 2724 c.2263C>A c.(2263-2265)Cag>Aag p.Q755K DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 755 cell cycle arrest|cell death cytoplasm protein binding p.Q755K(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCTGTCATCTGGTCCGACTGT 0.478000 96 133 6.36747e-66 1.00073e-65 0.139131 1 0 FASTKD2 22868 broad.mit.edu 37 2 207652825 207652825 + Nonsense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:207652825G>T ENST00000236980.6 + 9 2107 c.1759G>T c.(1759-1761)Gga>Tga p.G587* FASTKD2_ENST00000402774.3_Nonsense_Mutation_p.G587*|FASTKD2_ENST00000403094.3_Nonsense_Mutation_p.G587* NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 587 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity p.G587L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) CAGCCTTCTGGGAGGTGAAGG 0.453000 16 21 6.72482e-11 7.80252e-11 0.132662 1 0 BAGE2 85319 broad.mit.edu 37 21 11038790 11038790 + RNA SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr21:11038790C>A ENST00000470054.1 - 0 1413 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTACCCATGCCAGTTTTTTGG 0.413000 19 216 7.01153e-11 8.10919e-11 0.125774 1 0 PCDHB6 56130 broad.mit.edu 37 5 140531911 140531911 + Silent SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140531911G>C ENST00000231136.1 + 1 2073 c.2073G>C c.(2071-2073)gcG>gcC p.A691A PCDHB6_ENST00000543635.1_Silent_p.A555A NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 691 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.A691A(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTGGTGGCGTTGGCCTCGG 0.687000 93 144 0 0 0.139131 0 0 HERC4 26091 broad.mit.edu 37 10 69793920 69793920 + Nonsense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:69793920G>A ENST00000395198.3 - 6 734 c.487C>T c.(487-489)Cag>Tag p.Q163* HERC4_ENST00000412272.2_Nonsense_Mutation_p.Q163*|HERC4_ENST00000373700.4_Nonsense_Mutation_p.Q163*|HERC4_ENST00000395187.2_Silent_p.D109D|HERC4_ENST00000277817.6_Nonsense_Mutation_p.Q53* NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 163 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity p.Q163*(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 TATTTATTCTGTCCCCAACAG 0.348000 22 45 0 0 0.091800 0 0 SCN5A 6331 broad.mit.edu 37 3 38622670 38622670 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:38622670C>A ENST00000413689.1 - 17 3173 c.2980G>T c.(2980-2982)Gcc>Tcc p.A994S SCN5A_ENST00000423572.2_Missense_Mutation_p.A994S|SCN5A_ENST00000455624.2_Missense_Mutation_p.A994S|SCN5A_ENST00000425664.1_Missense_Mutation_p.A994S|SCN5A_ENST00000414099.2_Missense_Mutation_p.A994S|SCN5A_ENST00000451551.2_Missense_Mutation_p.A994S|SCN5A_ENST00000333535.4_Missense_Mutation_p.A994S|SCN5A_ENST00000450102.2_Missense_Mutation_p.A994S|SCN5A_ENST00000449557.2_Missense_Mutation_p.A994S|SCN5A_ENST00000443581.1_Missense_Mutation_p.A994S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 994 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.A994S(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCGGCAAGGGCTGCGGGCTTC 0.692000 5 1 0.0215528 0.0217936 0.217242 1 0 MTUS2 23281 broad.mit.edu 37 13 29855914 29855914 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:29855914C>T ENST00000431530.3 + 4 2806 c.2748C>T c.(2746-2748)gcC>gcT p.A916A NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 906 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity p.A916A(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CCAAGGGGGCCGGCCGGGTGG 0.562000 27 2 0 0 0.099896 0 0 FEZF1 389549 broad.mit.edu 37 7 121942184 121942184 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:121942184G>T ENST00000442488.2 - 4 1362 c.1295C>A c.(1294-1296)aCg>aAg p.T432K FEZF1_ENST00000427185.2_Missense_Mutation_p.T382K|FEZF1_ENST00000331178.4_Missense_Mutation_p.T428K NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 432 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T428K(1) breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GCCAGCTGGCGTGCGGGCCAG 0.692000 7 42 1.50039e-11 1.75584e-11 0.234183 1 0 CYP4F24P 388514 broad.mit.edu 37 19 15884920 15884920 + RNA SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:15884920G>T ENST00000587443.2 - 0 409 NR_033864.1 p.L48M(2) TAGGGTTTCAGGATGTTGAAA 0.547000 12 21 1.3612e-06 1.46653e-06 0.132662 1 0 TENM3 55714 broad.mit.edu 37 4 183635384 183635384 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:183635384G>T ENST00000511685.1 + 13 2489 c.2366G>T c.(2365-2367)gGa>gTa p.G789V TENM3_ENST00000406950.2_Missense_Mutation_p.G789V|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 p.G789V(1) GACAATGAAGGAGGTAAGAAA 0.458000 8 12 1.12685e-05 1.19625e-05 0.047766 1 0 IL18RAP 8807 broad.mit.edu 37 2 103057795 103057795 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:103057795G>T ENST00000264260.2 + 7 1343 c.754G>T c.(754-756)Gat>Tat p.D252Y IL18RAP_ENST00000409369.1_Missense_Mutation_p.D110Y NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 252 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity p.D252Y(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 ACTCAAACCAGATATTCTGGA 0.458000 34 51 1.36161e-19 1.74996e-19 0.203993 1 0 STX16 8675 broad.mit.edu 37 20 57242651 57242651 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:57242651G>A ENST00000371141.4 + 3 974 c.250G>A c.(250-252)Gaa>Aaa p.E84K STX16_ENST00000371132.4_Missense_Mutation_p.E63K|STX16_ENST00000496003.1_3'UTR|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.E84K|STX16_ENST00000358029.4_Missense_Mutation_p.E80K|STX16_ENST00000359617.4_Missense_Mutation_p.E31K|STX16_ENST00000361770.5_Missense_Mutation_p.E67K|STX16_ENST00000355957.5_Missense_Mutation_p.E67K|STX16_ENST00000361830.3_Missense_Mutation_p.E84K NM_001001433.2 NP_001001433.1 O14662 STX16_HUMAN syntaxin 16 84 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity p.E63K(1) breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1) 17 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) TGGAGTGGATGAAGTAAGTTC 0.403000 12 47 0 0 0.119110 0 0 PIK3CG 5294 broad.mit.edu 37 7 106526625 106526625 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:106526625A>G ENST00000359195.3 + 10 3228 c.2918A>G c.(2917-2919)aAa>aGa p.K973R PIK3CG_ENST00000496166.1_Missense_Mutation_p.K973R|PIK3CG_ENST00000440650.2_Missense_Mutation_p.K973R NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 973 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.K973R(1) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GGGAATTACAAAAGTTTCCTG 0.413000 25 44 0 0 0.163468 0 0 WDR35 57539 broad.mit.edu 37 2 20113375 20113375 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:20113375C>A ENST00000345530.3 - 28 3605 c.3490G>T c.(3490-3492)Gct>Tct p.A1164S WDR35_ENST00000281405.4_Missense_Mutation_p.A1153S|WDR35_ENST00000416055.2_Missense_Mutation_p.L556F NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 1164 p.A1164S(1) breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTTCCTGAGCAAGGACACCG 0.428000 57 81 2.44813e-32 3.50286e-32 0.139131 1 0 TAF2 6873 broad.mit.edu 37 8 120803609 120803609 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:120803609C>A ENST00000378164.2 - 11 1666 c.1368G>T c.(1366-1368)gtG>gtT p.V456V NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 456 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding p.V456V(2) NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TCAATCTCATCACAAGGTGGG 0.333000 22 41 1.96895e-08 2.18414e-08 0.076483 1 0 HIST2H2BE 8349 broad.mit.edu 37 1 149857921 149857921 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:149857921G>T ENST00000369155.2 - 1 311 c.270C>A c.(268-270)atC>atA p.I90I NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 90 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.I90I(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CGCGGGATGTGATGGTGGAGC 0.647000 48 59 1.19451e-25 1.62358e-25 0.139131 1 0 CRH 1392 broad.mit.edu 37 8 67089174 67089174 + Nonsense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:67089174A>T ENST00000276571.3 - 2 985 c.539T>A c.(538-540)tTa>tAa p.L180* NM_000756.2 NP_000747.1 P06850 CRF_HUMAN corticotropin releasing hormone 180 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity p.L180*(1) breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) TTGCTGTGCTAACTGCTCGGC 0.507000 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 54 0 0 0.124865 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20489417 20489417 + RNA SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:20489417C>T ENST00000555186.1 + 0 405 NR_038836.1 GCACAGGACTCAAGTGTCACT 0.423000 5 108 0 0 0.184627 0 0 UBASH3A 53347 broad.mit.edu 37 21 43833623 43833623 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr21:43833623C>T ENST00000319294.6 + 5 689 c.658C>T c.(658-660)Ctt>Ttt p.L220F UBASH3A_ENST00000291535.6_Intron|UBASH3A_ENST00000398367.1_Intron NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 220 cytosol|nucleus p.L220F(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 CCACTACATCCTTCAAAAATG 0.463000 8 12 0 0 0.175082 0 0 NAALADL2 254827 broad.mit.edu 37 3 175293949 175293949 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:175293949G>C ENST00000454872.1 + 10 1902 c.1774G>C c.(1774-1776)Gct>Cct p.A592P NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 592 proteolysis integral to membrane peptidase activity p.A592P(1) central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CGTGCAGTTTGCTTACGAGGA 0.398000 110 242 0 0 0.139131 0 0 FAM135B 51059 broad.mit.edu 37 8 139164698 139164698 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:139164698C>G ENST00000395297.1 - 13 2190 c.2020G>C c.(2020-2022)Ggg>Cgg p.G674R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 674 p.G674R(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTGATGACCCCGGATAGCACT 0.517000 HNSCC(54;0.14) 41 84 0 0 0.117977 0 0 PYHIN1 149628 broad.mit.edu 37 1 158913640 158913640 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:158913640G>C ENST00000368140.1 + 6 1308 c.1063G>C c.(1063-1065)Gta>Cta p.V355L PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.V346L|PYHIN1_ENST00000368138.3_Missense_Mutation_p.V346L|PYHIN1_ENST00000392254.2_Missense_Mutation_p.V355L NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 355 HIN-200. cell cycle nuclear speck p.V355L(1) breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AAGTATGGCTGTAGTAGGAAA 0.353000 41 36 0 0 0.246493 0 0 ATP10B 23120 broad.mit.edu 37 5 160031019 160031019 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:160031019G>T ENST00000327245.5 - 20 4036 c.3190C>A c.(3190-3192)Caa>Aaa p.Q1064K NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1064 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.Q1064K(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAGCAGCTTGAATCATGCTT 0.403000 55 98 1.31171e-36 1.91983e-36 0.139131 1 0 PCDHA3 56145 broad.mit.edu 37 5 140182821 140182821 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140182821C>G ENST00000522353.2 + 1 2039 c.2039C>G c.(2038-2040)tCc>tGc p.S680C PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S680C NM_018906.2 NP_061729.1 p.S680C(2) NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGCCTCGTCCCAGGCGTCC 0.647000 27 36 0 0 0.134883 0 0 OR5H6 79295 broad.mit.edu 37 3 97983473 97983473 + Silent SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:97983473A>T ENST00000383696.2 + 1 386 c.345A>T c.(343-345)gtA>gtT p.V115V RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V115V(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AATGCATGGTACAATTTTTTT 0.393000 27 63 0 0 0.134883 0 0 SPATA16 83893 broad.mit.edu 37 3 172835341 172835341 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:172835341C>G ENST00000351008.3 - 2 364 c.181G>C c.(181-183)Gaa>Caa p.E61Q NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 61 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding p.E61Q(1) breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TTTGTTCTTTCAAGTGTGATT 0.393000 77 621 0 0 0.139131 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719959 140719959 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140719959T>C ENST00000394576.2 + 1 1421 c.1421T>C c.(1420-1422)gTg>gCg p.V474A PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.V474A(2) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTTCTCAGTGACGGCCCAT 0.547000 18 120 0 0 0.204396 0 0 DNAH11 8701 broad.mit.edu 37 7 21779201 21779201 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:21779201G>T ENST00000328843.6 + 49 7876 c.7845G>T c.(7843-7845)caG>caT p.Q2615H DNAH11_ENST00000409508.3_Missense_Mutation_p.Q2608H Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2615 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.Q2615H(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ATGATAGACAGAAGGTGATGC 0.428000 Kartagener syndrome 31 32 4.02929e-09 4.52046e-09 0.153744 1 0 KIAA1841 84542 broad.mit.edu 37 2 61315512 61315512 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:61315512C>A ENST00000402291.1 + 10 1238 c.997C>A c.(997-999)Ctt>Att p.L333I KIAA1841_ENST00000356719.2_Missense_Mutation_p.L333I|KIAA1841_ENST00000295031.5_Missense_Mutation_p.L333I|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.L333I NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 333 p.L333I(2) breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) GTGTAAGAAACTTTTAACAAA 0.303000 14 31 0.00244969 0.00250506 0.119110 1 0 EML5 161436 broad.mit.edu 37 14 89093342 89093342 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:89093342G>T ENST00000554922.1 - 35 4828 c.4580C>A c.(4579-4581)gCa>gAa p.A1527E EML5_ENST00000380664.5_Missense_Mutation_p.A1519E|EML5_ENST00000352093.5_Missense_Mutation_p.A1481E NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1519 cytoplasm|microtubule p.A1527E(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TCGGAATTCTGCCACAAAAAT 0.423000 50 74 2.78941e-39 4.12711e-39 0.139131 1 0 LMAN2 10960 broad.mit.edu 37 5 176765534 176765534 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:176765534C>A ENST00000303127.7 - 3 592 c.388G>T c.(388-390)Gga>Tga p.G130* LMAN2_ENST00000515209.1_Nonsense_Mutation_p.G130*|LMAN2_ENST00000506310.1_5'UTR NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 130 L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding p.G130*(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATGCCGTCTCCATGGAGGTTC 0.632000 137 185 1.41179e-77 2.22526e-77 0.139131 1 0 C9 735 broad.mit.edu 37 5 39288979 39288979 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:39288979G>A ENST00000263408.4 - 10 1586 c.1491C>T c.(1489-1491)gcC>gcT p.A497A NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 497 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex p.A497A(1) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) AGTCTTCAATGGCTCTTTCCA 0.358000 14 69 0 0 0.119110 0 0 OR5A2 219981 broad.mit.edu 37 11 59190327 59190327 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:59190327C>G ENST00000302040.4 - 1 122 c.100G>C c.(100-102)Ggg>Cgg p.G34R NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G34R(1) large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 AGGTAGAGCCCCAGAAATAAC 0.443000 51 57 0 0 0.139131 0 0 KCNAB3 9196 broad.mit.edu 37 17 7830684 7830684 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:7830684C>A ENST00000303790.2 - 4 381 c.382G>T c.(382-384)Gcc>Tcc p.A128S RP11-1099M24.7_ENST00000573621.1_3'UTR NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 128 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) TACACTTCGGCGGTGTCAAAC 0.502000 52 49 5.09e-60 7.94216e-60 0.139131 1 0 PET112 5188 broad.mit.edu 37 4 152640682 152640682 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:152640682G>C ENST00000263985.6 - 3 376 c.336C>G c.(334-336)aaC>aaG p.N112K PET112_ENST00000515812.1_Missense_Mutation_p.N112K|PET112_ENST00000512306.1_Missense_Mutation_p.N112K NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 112 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding p.N112K(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CACACCTCCTGTTGAGAACCT 0.498000 15 27 0 0 0.076483 0 0 KIAA1109 84162 broad.mit.edu 37 4 123175388 123175388 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:123175388A>G ENST00000264501.4 + 38 6334 c.5961A>G c.(5959-5961)ctA>ctG p.L1987L KIAA1109_ENST00000455637.1_Silent_p.L1987L|KIAA1109_ENST00000388738.3_Silent_p.L1987L Q2LD37 K1109_HUMAN KIAA1109 1987 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.L1987L(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AAAAAGATCTACCTCTGATGC 0.378000 24 55 0 0 0.083992 0 0 EVI2A 2123 broad.mit.edu 37 17 29645376 29645376 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:29645376C>G ENST00000247270.3 - 3 1061 c.725G>C c.(724-726)aGg>aCg p.R242T EVI2A_ENST00000462804.2_Missense_Mutation_p.R219T|NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.K158N|EVI2A_ENST00000461237.1_Missense_Mutation_p.R219T NM_001003927.2 NP_001003927.1 P22794 EVI2A_HUMAN ecotropic viral integration site 2A 219 integral to membrane transmembrane receptor activity p.0?(8)|p.?(3)|p.R242T(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) TTTTCTTTCCCTTGTAGCTGT 0.413000 16 33 0 0 0.160694 0 0 FKBP7 51661 broad.mit.edu 37 2 179343127 179343127 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179343127C>T ENST00000424785.2 - 1 158 c.100G>A c.(100-102)Gaa>Aaa p.E34K FKBP7_ENST00000434643.2_Missense_Mutation_p.E34K|FKBP7_ENST00000464248.1_5'UTR NM_001135212.1|NM_181342.2 NP_001128684.1|NP_851939.1 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 34 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.E34K(1) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) ATTTTCACTTCTTCGGTGCTC 0.408000 92 141 0 0 0.139131 0 0 OR2F1 26211 broad.mit.edu 37 7 143657783 143657783 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:143657783G>T ENST00000392899.1 + 1 757 c.720G>T c.(718-720)acG>acT p.T240T NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T240T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CTTTCCACACGTGTGCCTCTC 0.502000 45 71 1.63429e-32 2.34147e-32 0.139131 1 0 SLC22A2 6582 broad.mit.edu 37 6 160679775 160679775 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:160679775C>A ENST00000366953.3 - 1 273 c.15G>T c.(13-15)gtG>gtT p.V5V SLC22A2_ENST00000366952.1_Intron|SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 5 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity p.V5V(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GGACATCGTCCACGGTGGTGG 0.617000 16 19 5.35267e-07 5.82465e-07 0.189662 1 0 LAMA1 284217 broad.mit.edu 37 18 7009334 7009334 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:7009334T>A ENST00000389658.3 - 27 3998 c.3905A>T c.(3904-3906)gAa>gTa p.E1302V NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1302 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.E1302V(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACAGGTTTTTCAGAAACAGA 0.383000 96 17 0 0 0.139131 0 0 OR2L13 284521 broad.mit.edu 37 1 248263048 248263048 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:248263048C>A ENST00000366478.2 + 3 708 c.371C>A c.(370-372)gCc>gAc p.A124D OR2L13_ENST00000358120.2_Missense_Mutation_p.A124D NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.A124D(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CGTTATTTGGCCATCTGCCAC 0.498000 138 103 4.38736e-65 6.88537e-65 0.139131 1 0 PEG3 5178 broad.mit.edu 37 19 57325536 57325536 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:57325536G>C ENST00000326441.9 - 10 4637 c.4274C>G c.(4273-4275)cCa>cGa p.P1425R ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.P1301R|PEG3_ENST00000593695.1_Missense_Mutation_p.P1299R|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P1425R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1425 4 X 5 AA repeat of P-X-G-E-A.|Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1425*(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTCTCCATCTGGCCCTTCAGC 0.602000 22 6 0 0 0.144211 0 0 CD163 9332 broad.mit.edu 37 12 7636212 7636212 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:7636212C>A ENST00000359156.4 - 12 3041 c.2839G>T c.(2839-2841)Gga>Tga p.G947* CD163_ENST00000432237.2_Nonsense_Mutation_p.G947*|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Nonsense_Mutation_p.G935*|CD163_ENST00000396620.3_Nonsense_Mutation_p.G980* NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 947 SRCR 9. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.G947*(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CAGGAACCTCCATGCCAGATC 0.478000 12 43 0.00010058 0.000104727 0.093190 1 0 COL4A3 1285 broad.mit.edu 37 2 228173983 228173983 + Silent SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:228173983T>C ENST00000396578.3 + 50 4866 c.4704T>C c.(4702-4704)ccT>ccC p.P1568P AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1568 Collagen IV NC1. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity p.P1568P(2) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CTGACATTCCTCCATGTCCTC 0.468000 24 23 0 0 0.173368 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43650780 43650780 + Silent SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:43650780A>T ENST00000374466.3 + 2 518 c.183A>T c.(181-183)ctA>ctT p.L61L CSGALNACT2_ENST00000374464.1_Silent_p.L61L NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 61 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding p.L61L(1) endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AAGCCCTCCTACAGGAACAAG 0.433000 29 29 0 0 0.153744 0 0 KIAA1958 158405 broad.mit.edu 37 9 115337153 115337153 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:115337153G>A ENST00000337530.6 + 2 1089 c.793G>A c.(793-795)Gac>Aac p.D265N KIAA1958_ENST00000536272.1_Missense_Mutation_p.D265N|KIAA1958_ENST00000374244.3_Missense_Mutation_p.D265N NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 265 p.D265N(1) endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 CACGGAGCTAGACCCACACGG 0.547000 127 180 0 0 0.139131 0 0 PXDNL 137902 broad.mit.edu 37 8 52469407 52469407 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:52469407C>G ENST00000356297.4 - 4 473 c.373G>C c.(373-375)Gaa>Caa p.E125Q PXDNL_ENST00000543296.1_Missense_Mutation_p.E125Q NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 125 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.E125Q(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TACAGATGTTCCAAAGATATG 0.274000 4 14 0 0 0.150653 0 0 COL3A1 1281 broad.mit.edu 37 2 189872840 189872840 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:189872840G>A ENST00000304636.3 + 47 3667 c.3497G>A c.(3496-3498)cGa>cAa p.R1166Q COL3A1_ENST00000317840.5_Missense_Mutation_p.R863Q NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1166 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 p.R1166Q(1) 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) CCAGGGCCTCGAGGTAACAGA 0.458000 12 12 0 0 0.105934 0 0 TTN 7273 broad.mit.edu 37 2 179431317 179431317 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179431317A>G ENST00000589042.1 - 326 79766 c.79542T>C c.(79540-79542)gaT>gaC p.D26514D TTN_ENST00000460472.2_Silent_p.D17449D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.D24873D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.D17574D|TTN_ENST00000342992.6_Silent_p.D23946D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.D17641D|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24873 Fibronectin type-III 93. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D17574D(1)|p.D23946D(1)|p.D17449D(1)|p.D23944D(1)|p.D17641D(1) 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) CACTGCCGCCATCATAGATGG 0.453000 129 194 0 0 0.139131 0 0 IL9R 3581 broad.mit.edu 37 X 155232673 155232673 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:155232673G>T ENST00000424344.3 + 3 435 c.68G>T c.(67-69)gGg>gTg p.G23V IL9R_ENST00000369423.2_Missense_Mutation_p.G91V|IL9R_ENST00000244174.5_Missense_Mutation_p.G44V|IL9R_ENST00000540897.1_Missense_Mutation_p.G81V Q01113 IL9R_HUMAN interleukin 9 receptor 44 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity p.G44V(1) 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) TCTGTCACAGGGGAAGGACAA 0.587000 81 147 2.68325e-40 3.99179e-40 0.139131 1 0 MS4A15 219995 broad.mit.edu 37 11 60543111 60543111 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:60543111G>T ENST00000405633.3 + 7 725 c.646G>T c.(646-648)Gac>Tac p.D216Y MS4A15_ENST00000337911.4_Missense_Mutation_p.D123Y|MS4A15_ENST00000528170.1_Missense_Mutation_p.D175Y NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 216 integral to membrane receptor activity p.D123Y(1)|p.D216Y(1) breast(1)|large_intestine(2)|lung(3) 6 CTTCAGCGCAGACTTCAACAT 0.582000 OREG0020991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 101 159 7.22319e-40 1.07164e-39 0.139131 1 0 DNAH17 8632 broad.mit.edu 37 17 76522807 76522807 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:76522807C>G ENST00000389840.5 - 24 3761 c.3637G>C c.(3637-3639)Gag>Cag p.E1213Q DNAH17_ENST00000585328.1_Missense_Mutation_p.E1210Q dynein, axonemal, heavy chain 17 p.E1210Q(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCCCTGAACTCATGTTGCTTG 0.597000 27 17 0 0 0.116897 0 0 PRELID2 153768 broad.mit.edu 37 5 145202688 145202688 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:145202688G>T ENST00000334744.4 - 2 137 c.85C>A c.(85-87)Ccc>Acc p.P29T PRELID2_ENST00000394450.2_5'UTR|PRELID2_ENST00000511435.1_Missense_Mutation_p.P29T|PRELID2_ENST00000505416.1_Missense_Mutation_p.P29T|PRELID2_ENST00000358004.2_Missense_Mutation_p.P29T NM_182960.2 NP_892005.1 Q8N945 PRLD2_HUMAN PRELI domain containing 2 29 PRELI/MSF1. p.P29T(1) endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTATCCATGGGGTTGGGGTAC 0.318000 4 23 1.23904e-05 1.31278e-05 0.184627 1 0 ZBTB22 9278 broad.mit.edu 37 6 33282996 33282996 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:33282996C>A ENST00000431845.2 - 2 1849 c.1698G>T c.(1696-1698)cgG>cgT p.R566R ZBTB22_ENST00000418724.1_Silent_p.R566R NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R566R(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CCAGGCGGTGCCGGCGCTCAC 0.682000 28 40 1.22384e-17 1.54725e-17 0.173368 1 0 ESYT2 57488 broad.mit.edu 37 7 158540942 158540942 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:158540942C>A ENST00000251527.5 - 15 1733 c.1668G>T c.(1666-1668)tgG>tgT p.W556C NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 584 C2 2. integral to membrane|plasma membrane p.W556C(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 AGTTTTCCTCCCACACAGGTT 0.333000 84 12 2.16659e-41 3.24093e-41 0.139131 1 0 FBXW7 55294 broad.mit.edu 37 4 153303398 153303398 + Silent SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:153303398C>G ENST00000296555.5 - 1 269 c.90G>C c.(88-90)gtG>gtC p.V30V FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000603841.1_Intron NM_001013415.1 NP_001013433.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 0 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.V30V(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATATCTTCATCACAGTTTGAT 0.383000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 17 44 0 0 0.160694 0 0 SLC6A16 28968 broad.mit.edu 37 19 49793479 49793479 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:49793479G>T ENST00000335875.4 - 12 2353 c.2112C>A c.(2110-2112)ccC>ccA p.P704P SLC6A16_ENST00000454748.3_3'UTR NM_014037.2 NP_054756.2 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 704 integral to membrane|intracellular neurotransmitter:sodium symporter activity p.P704P(1) NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GGTGACTTAGGGGTAGGGATG 0.473000 84 38 2.46087e-49 3.743e-49 0.139131 1 0 SCN2A 6326 broad.mit.edu 37 2 166183487 166183487 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:166183487C>A ENST00000357398.3 + 13 2432 c.2142C>A c.(2140-2142)acC>acA p.T714T SCN2A_ENST00000375427.2_Silent_p.T714T|SCN2A_ENST00000375437.2_Silent_p.T714T|SCN2A_ENST00000283256.6_Silent_p.T714T Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 714 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.T714T(2) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TGACCAACACCATGGAAGGTA 0.368000 6 115 0.0381472 0.0383947 0.038147 1 0 PTPRU 10076 broad.mit.edu 37 1 29606079 29606079 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:29606079C>T ENST00000356870.3 + 10 1785 c.1675C>T c.(1675-1677)Cca>Tca p.P559S PTPRU_ENST00000460170.2_Missense_Mutation_p.P559S|PTPRU_ENST00000428026.2_Missense_Mutation_p.P559S|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.P559S|PTPRU_ENST00000345512.3_Missense_Mutation_p.P559S|PTPRU_ENST00000323874.8_Missense_Mutation_p.P559S NM_133177.3 NP_573438.3 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 559 Fibronectin type-III 3. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity p.P559S(6) breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CAACCTGCACCCAGGCACCAC 0.602000 94 143 0 0 0.139131 0 0 MUC16 94025 broad.mit.edu 37 19 9047974 9047974 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:9047974G>T ENST00000397910.4 - 5 33860 c.33657C>A c.(33655-33657)acC>acA p.T11219T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11221 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T11219T(1)|p.T6852T(1) 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 AAAACGCACTGGTCTCTGACC 0.473000 12 20 2.68362e-12 3.1782e-12 0.093190 1 0 FLT4 2324 broad.mit.edu 37 5 180048182 180048182 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:180048182C>A ENST00000261937.6 - 14 2169 c.2091G>T c.(2089-2091)atG>atT p.M697I FLT4_ENST00000393347.3_Missense_Mutation_p.M697I|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.M697I NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 697 Ig-like C2-type 7. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.M697I(2)|p.M507I(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CCAAGCACTGCATCTCCAGCG 0.642000 36 30 4.00102e-26 5.45183e-26 0.235728 1 0 CAPN9 10753 broad.mit.edu 37 1 230883330 230883330 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:230883330G>C ENST00000354537.1 + 1 170 c.88G>C c.(88-90)Gag>Cag p.E30Q CAPN9_ENST00000366666.2_Missense_Mutation_p.E30Q|CAPN9_ENST00000271971.2_Missense_Mutation_p.E30Q|RP11-99J16__A.2_ENST00000412344.1_RNA NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 30 digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.E30Q(2) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CCAGAGCTTTGAGCAAATGAG 0.617000 33 176 0 0 0.246493 0 0 BBX 56987 broad.mit.edu 37 3 107491895 107491895 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:107491895G>A ENST00000415149.2 + 11 1654 c.1327G>A c.(1327-1329)Gca>Aca p.A443T BBX_ENST00000406780.1_Missense_Mutation_p.A443T|BBX_ENST00000402543.1_Missense_Mutation_p.A443T|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.A443T NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.A443T(1) breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) GGATCCCGCAGCATTAAACAA 0.368000 55 120 0 0 0.139131 0 0 CD44 960 broad.mit.edu 37 11 35211479 35211479 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:35211479G>A ENST00000263398.6 + 5 968 c.534G>A c.(532-534)gtG>gtA p.V178V CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Silent_p.V178V|CD44_ENST00000434472.2_Silent_p.V178V|CD44_ENST00000449691.2_Silent_p.V178V|CD44_ENST00000360158.4_Silent_p.V178V|CD44_ENST00000433892.2_Silent_p.V178V|CD44_ENST00000278386.6_Intron|CD44_ENST00000352818.4_Silent_p.V178V|CD44_ENST00000437706.2_Silent_p.V178V|CD44_ENST00000428726.2_Silent_p.V178V|CD44_ENST00000415148.2_Silent_p.V178V NM_001001391.1|NM_001202555.1|NM_001202556.1 NP_001001391.1|NP_001189484.1|NP_001189485.1 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 178 cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity p.V178V(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) ATGATGACGTGAGCAGCGGCT 0.502000 17 18 0 0 0.091800 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552120 178552120 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:178552120G>T ENST00000251582.7 - 19 2913 c.2812C>A c.(2812-2814)Cgc>Agc p.R938S NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 938 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R938S(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CGCACGGAGCGCACCTGCATG 0.687000 53 104 1.03172e-35 1.50598e-35 0.139131 1 0 NBAS 51594 broad.mit.edu 37 2 15555687 15555687 + Nonsense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:15555687G>A ENST00000281513.5 - 25 2945 c.2920C>T c.(2920-2922)Cag>Tag p.Q974* NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 974 p.Q974*(1) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTGGAATGCTGAAATATCTTC 0.343000 18 38 0 0 0.069288 0 0 CHD1L 9557 broad.mit.edu 37 1 146758078 146758078 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:146758078G>T ENST00000369258.4 + 18 2142 c.2122G>T c.(2122-2124)Gat>Tat p.D708Y CHD1L_ENST00000431239.1_Missense_Mutation_p.D614Y|CHD1L_ENST00000361293.5_Missense_Mutation_p.D427Y|CHD1L_ENST00000369259.3_Missense_Mutation_p.D504Y|CHD1L_ENST00000467213.1_3'UTR NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 708 Macro. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding p.D708Y(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) TGCTGAGCTGGATTACCAAGA 0.567000 64 102 1.1362e-29 1.59833e-29 0.139131 1 0 SLC24A3 57419 broad.mit.edu 37 20 19665898 19665898 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:19665898A>T ENST00000328041.6 + 12 1414 c.1217A>T c.(1216-1218)gAg>gTg p.E406V NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 406 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.E406V(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTTGTGGCTGAGGCTGGCAAC 0.527000 27 32 0 0 0.183431 0 0 EXOSC9 5393 broad.mit.edu 37 4 122722599 122722599 + Nonsense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:122722599C>G ENST00000379663.3 + 1 125 c.20C>G c.(19-21)tCa>tGa p.S7* EXOSC9_ENST00000243498.5_Nonsense_Mutation_p.S7*|EXOSC9_ENST00000509980.1_3'UTR NM_001034194.1 NP_001029366.1 Q06265 EXOS9_HUMAN exosome component 9 7 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding p.S7*(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1) 16 ACGCCACTCTCAAACTGCGAA 0.612000 7 121 0 0 0.047766 0 0 OR52E4 390081 broad.mit.edu 37 11 5905755 5905755 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:5905755C>T ENST00000316987.2 + 1 255 c.233C>T c.(232-234)tCc>tTc p.S78F NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S78F(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTCCACATCCACTATCCCC 0.438000 48 54 0 0 0.139131 0 0 C2orf42 54980 broad.mit.edu 37 2 70408798 70408798 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:70408798A>G ENST00000264434.2 - 3 699 c.320T>C c.(319-321)aTc>aCc p.I107T C2orf42_ENST00000470096.1_5'UTR|C2orf42_ENST00000420306.1_Missense_Mutation_p.I107T NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 107 p.I107T(1) endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 CAGCTGAGTGATGATCGTCCC 0.557000 29 40 0 0 0.173368 0 0 LIG4 3981 broad.mit.edu 37 13 108862284 108862284 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:108862284C>A ENST00000356922.4 - 2 1605 c.1333G>T c.(1333-1335)Gaa>Taa p.E445* LIG4_ENST00000442234.1_Nonsense_Mutation_p.E445*|LIG4_ENST00000405925.1_Nonsense_Mutation_p.E445* NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 445 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding p.E445*(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AACCACCCTTCACCTCTTTTG 0.378000 Non-homologous end-joining 241 428 4.60529e-113 7.32261e-113 0.139131 1 0 MUC16 94025 broad.mit.edu 37 19 9067439 9067439 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:9067439G>C ENST00000397910.4 - 3 20210 c.20007C>G c.(20005-20007)atC>atG p.I6669M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6671 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.I6669M(2)|p.I2302M(1) 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 CTGTGGATACGATGGGGTCCT 0.512000 63 110 0 0 0.139131 0 0 MYO16 23026 broad.mit.edu 37 13 109535456 109535456 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:109535456C>A ENST00000356711.2 + 13 1535 c.1409C>A c.(1408-1410)cCt>cAt p.P470H MYO16_ENST00000357550.2_Missense_Mutation_p.P470H|MYO16_ENST00000251041.5_Missense_Mutation_p.P470H NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 470 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.P470H(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCCTCGCTGCCTCCTCACCTC 0.562000 186 366 7.8419e-94 1.23783e-93 0.139131 1 0 F12 2161 broad.mit.edu 37 5 176831231 176831231 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:176831231C>T ENST00000253496.3 - 9 1032 c.984G>A c.(982-984)acG>acA p.T328T NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 328 Pro-rich. T -> K (in HAE3).|T -> R (in HAE3). Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity p.T328T(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGTCCGGGTCGTGGGCTGAG 0.731000 Hereditary Angioedema OREG0017088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 9 0 0 0.029380 0 0 ZWINT 11130 broad.mit.edu 37 10 58120979 58120979 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:58120979C>T ENST00000373944.3 - 1 57 c.19G>A c.(19-21)Gag>Aag p.E7K ZWINT_ENST00000361148.6_Missense_Mutation_p.E7K|ZWINT_ENST00000395405.1_Missense_Mutation_p.E7K O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 7 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding p.E7K(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 GCTTCCGCCTCTGTCTCCGCT 0.597000 6 4 0 0 0.058154 0 0 MAP2K6 5608 broad.mit.edu 37 17 67513012 67513012 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:67513012G>T ENST00000590474.1 + 3 387 c.100G>T c.(100-102)Gac>Tac p.D34Y MAP2K6_ENST00000589647.1_5'UTR NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 34 activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D34Y(1) central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) TCGAGATTTAGACTCCAAGGC 0.373000 102 111 1.22879e-52 1.8875e-52 0.139131 1 0 DTNA 1837 broad.mit.edu 37 18 32400876 32400876 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:32400876T>C ENST00000283365.9 + 10 1349 c.998T>C c.(997-999)aTc>aCc p.I333T DTNA_ENST00000269191.6_Missense_Mutation_p.I333T|DTNA_ENST00000399097.3_Missense_Mutation_p.I15T|DTNA_ENST00000348997.5_Missense_Mutation_p.I333T|DTNA_ENST00000554864.3_Missense_Mutation_p.I333T|DTNA_ENST00000444659.1_Missense_Mutation_p.I333T|DTNA_ENST00000399121.5_Missense_Mutation_p.I333T|DTNA_ENST00000269192.7_Missense_Mutation_p.I15T|DTNA_ENST00000315456.6_Missense_Mutation_p.I333T|DTNA_ENST00000597599.1_Missense_Mutation_p.I333T|DTNA_ENST00000598774.1_Missense_Mutation_p.I333T|DTNA_ENST00000269190.7_Missense_Mutation_p.I333T|DTNA_ENST00000591182.1_Missense_Mutation_p.I15T|DTNA_ENST00000556414.3_Missense_Mutation_p.I15T|DTNA_ENST00000599844.1_Missense_Mutation_p.I15T|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.I333T|DTNA_ENST00000598334.1_Missense_Mutation_p.I333T|DTNA_ENST00000601125.1_Missense_Mutation_p.I15T|DTNA_ENST00000595022.1_Missense_Mutation_p.I333T|DTNA_ENST00000597674.1_Missense_Mutation_p.I15T|DTNA_ENST00000598142.1_Missense_Mutation_p.I333T NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 333 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding p.I333T(5)|p.I15T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TTGGCTCACATCGTGTGAGTA 0.493000 17 28 0 0 0.163468 0 0 ADCY9 115 broad.mit.edu 37 16 4164582 4164582 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:4164582G>A ENST00000294016.3 - 2 1400 c.862C>T c.(862-864)Cac>Tac p.H288Y NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 288 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding p.H288Y(1) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 ATGCAGCCGTGGAGCAGCCCC 0.632000 29 41 0 0 0.225048 0 0 OR2L2 26246 broad.mit.edu 37 1 248201677 248201677 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:248201677G>T ENST00000366479.2 + 1 204 c.108G>T c.(106-108)atG>atT p.M36I OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M36I(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) TTTTCCTAATGGCTCTAATTG 0.383000 110 228 1.04275e-50 1.59496e-50 0.139131 1 0 C1orf173 127254 broad.mit.edu 37 1 75038355 75038355 + Silent SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:75038355A>T ENST00000326665.5 - 14 3257 c.3039T>A c.(3037-3039)ccT>ccA p.P1013P C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1013 Glu-rich. p.P1013P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTCCTTCCTCAGGGCTGCCCT 0.522000 72 89 0 0 0.139131 0 0 TDO2 6999 broad.mit.edu 37 4 156831336 156831336 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:156831336G>T ENST00000536354.2 + 6 655 c.591G>T c.(589-591)caG>caT p.Q197H NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 197 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity p.Q197H(2) breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) AATCTGAGCAGGAAAAGACAC 0.323000 33 57 6.53348e-20 8.41679e-20 0.193644 1 0 MSR1 4481 broad.mit.edu 37 8 15998538 15998538 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:15998538A>G ENST00000381998.4 - 9 1115 c.1050T>C c.(1048-1050)acT>acC p.T350T MSR1_ENST00000262101.5_Intron|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000536385.1_Silent_p.T124T|MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Intron NM_002445.3 NP_002436.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 0 SRCR. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity p.T350T(1) haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TAATATGATCAGTGAGTTGTA 0.393000 54 73 0 0 0.139131 0 0 NEK11 79858 broad.mit.edu 37 3 130852750 130852750 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:130852750G>A ENST00000383366.4 + 7 890 c.597G>A c.(595-597)atG>atA p.M199I NEK11_ENST00000507910.1_Missense_Mutation_p.M199I|NEK11_ENST00000510688.1_Missense_Mutation_p.M199I|NEK11_ENST00000508196.1_Missense_Mutation_p.M199I|NEK11_ENST00000511262.1_Missense_Mutation_p.M199I|NEK11_ENST00000356918.4_Missense_Mutation_p.M199I|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000412440.2_Missense_Mutation_p.M51I|NEK11_ENST00000429253.2_Missense_Mutation_p.M199I|NEK11_ENST00000510769.1_Missense_Mutation_p.M199I NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 199 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity p.M199I(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 CCCATTATATGAGTCCTGAGG 0.428000 48 101 0 0 0.139131 0 0 ACE 1636 broad.mit.edu 37 17 61557706 61557706 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:61557706G>T ENST00000290866.4 + 5 688 c.664G>T c.(664-666)Gac>Tac p.D222Y ACE_ENST00000538928.1_Missense_Mutation_p.D222Y|ACE_ENST00000428043.1_Missense_Mutation_p.D222Y|ACE_ENST00000584529.1_3'UTR NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 222 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding p.D222Y(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AGGCTTCACAGACACGGGGGC 0.617000 40 45 8.48111e-28 1.18083e-27 0.139131 1 0 PAPPA2 60676 broad.mit.edu 37 1 176564507 176564507 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:176564507C>A ENST00000367662.3 + 3 2931 c.1767C>A c.(1765-1767)agC>agA p.S589R PAPPA2_ENST00000367661.3_Missense_Mutation_p.S589R NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 589 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.S589R(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GTGAGCCCAGCAAGATTGGCA 0.602000 75 67 4.18771e-30 5.91399e-30 0.139131 1 0 RALGAPA1 253959 broad.mit.edu 37 14 36147196 36147196 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:36147196C>G ENST00000258840.6 - 22 3597 c.3207G>C c.(3205-3207)gaG>gaC p.E1069D RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E1022D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E1035D|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.E1022D Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1022 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity p.E1022D(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGTGGAGCTTCTCGTCGAGCT 0.458000 41 53 0 0 0.139131 0 0 SLITRK2 84631 broad.mit.edu 37 X 144906017 144906017 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:144906017G>T ENST00000370490.1 + 1 6329 c.2074G>T c.(2074-2076)Gtg>Ttg p.V692L SLITRK2_ENST00000428560.2_Missense_Mutation_p.V692L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V692L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V692L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V692L Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 692 integral to membrane p.V692L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CCCCCCACCTGTGGGTCAGAT 0.473000 85 8 1.67174e-50 2.55347e-50 0.139131 1 0 FLG2 388698 broad.mit.edu 37 1 152329486 152329486 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:152329486C>G ENST00000388718.5 - 3 848 c.776G>C c.(775-777)aGa>aCa p.R259T FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 259 Ser-rich. calcium ion binding|structural molecule activity p.R259T(1) 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) CTTTTGTTCTCTAATTCTTGA 0.468000 25 212 0 0 0.099896 0 0 FBLN1 2192 broad.mit.edu 37 22 45944567 45944567 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:45944567C>T ENST00000348697.2 + 13 1663 c.1516C>T c.(1516-1518)Cag>Tag p.Q506* FBLN1_ENST00000402984.3_Nonsense_Mutation_p.Q544*|FBLN1_ENST00000340923.5_Nonsense_Mutation_p.Q506*|FBLN1_ENST00000327858.6_Nonsense_Mutation_p.Q506*|FBLN1_ENST00000262722.7_Nonsense_Mutation_p.Q506*|FBLN1_ENST00000476366.1_Intron|FBLN1_ENST00000442170.2_Nonsense_Mutation_p.Q506* P23142 FBLN1_HUMAN fibulin 1 506 EGF-like 8; calcium-binding. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding p.Q506*(3) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGGAAGCTTCCAGTGCAGCTG 0.657000 17 23 0 0 0.083992 0 0 HTR1E 3354 broad.mit.edu 37 6 87725435 87725435 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:87725435T>C ENST00000305344.4 + 2 1086 c.383T>C c.(382-384)aTt>aCt p.I128T HTR1E_ENST00000369584.1_Missense_Mutation_p.I128T NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 128 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.I128T(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ACCAATGCTATTGAATACGCC 0.562000 43 68 0 0 0.139131 0 0 SCGB2B2 284402 broad.mit.edu 37 19 35085417 35085417 + Missense_Mutation SNP C C A rs138254432 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:35085417C>A ENST00000601241.1 - 2 2152 c.52G>T c.(52-54)Gtc>Ttc p.V18F SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Missense_Mutation_p.V18F Q4G0G5 SCGBL_HUMAN secretoglobin, family 2B, member 2 18 extracellular region binding p.V18F(1) CCCAGCTGGACGCTGCAGATC 0.607000 24 30 4.87955e-14 5.888e-14 0.108266 1 0 FGFBP1 9982 broad.mit.edu 37 4 15937648 15937648 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:15937648A>T ENST00000382333.1 - 3 902 c.608T>A c.(607-609)aTg>aAg p.M203K FGFBP1_ENST00000259988.2_Missense_Mutation_p.M203K NM_005130.4 NP_005121.1 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 203 Sufficient for interaction with FGF2 and FGF2-induced effects. cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding p.M203N(1) NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 CTGGTTTGCCATATCTGGGTC 0.552000 92 30 0 0 0.139131 0 0 PARP14 54625 broad.mit.edu 37 3 122419622 122419622 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:122419622A>G ENST00000474629.2 + 6 2487 c.2221A>G c.(2221-2223)Aaa>Gaa p.K741E NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 741 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity p.K741E(1)|p.K578E(1) NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AGTCTGTGTTAAAAGTGTCCA 0.418000 13 33 0 0 0.146539 0 0 ANKRA2 57763 broad.mit.edu 37 5 72851384 72851384 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:72851384C>T ENST00000296785.3 - 5 1199 c.541G>A c.(541-543)Gaa>Aaa p.E181K NM_023039.4 NP_075526.1 Q9H9E1 ANRA2_HUMAN ankyrin repeat, family A (RFXANK-like), 2 181 cytoskeleton|cytosol|membrane low-density lipoprotein particle binding p.E181K(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) GTAAATCCTTCTTCATCCGTG 0.348000 40 56 0 0 0.111260 0 0 MYT1L 23040 broad.mit.edu 37 2 1926073 1926073 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:1926073G>T ENST00000399161.2 - 10 2215 c.1468C>A c.(1468-1470)Cca>Aca p.P490T MYT1L_ENST00000428368.2_Missense_Mutation_p.P490T NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 490 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P490K(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CCATAGTATGGCTTTTTGACA 0.448000 30 52 3.62531e-18 4.59403e-18 0.203993 1 0 FAM149A 25854 broad.mit.edu 37 4 187077213 187077213 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:187077213G>T ENST00000356371.5 + 7 1316 c.1316G>T c.(1315-1317)gGa>gTa p.G439V FAM149A_ENST00000389354.5_Missense_Mutation_p.G148V|FAM149A_ENST00000502970.1_Missense_Mutation_p.G148V|FAM149A_ENST00000514153.1_Missense_Mutation_p.G148V|FAM149A_ENST00000227065.4_Missense_Mutation_p.G148V|FAM149A_ENST00000503432.1_Missense_Mutation_p.G148V|FAM149A_ENST00000514829.1_3'UTR A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 439 p.G148V(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) CGCAAACTCGGACTTCCTCCT 0.453000 49 80 1.32667e-27 1.83537e-27 0.139131 1 0 COL4A1 1282 broad.mit.edu 37 13 110813651 110813651 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:110813651C>A ENST00000375820.4 - 49 4649 c.4528G>T c.(4528-4530)Gtg>Ttg p.V1510L COL4A1_ENST00000467182.1_5'UTR NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1510 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.V1510L(1)|p.V1153L(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AAGTTGCACACGTTGTTAATA 0.517000 45 87 1.72184e-34 2.48659e-34 0.139131 1 0 NEFH 4744 broad.mit.edu 37 22 29879485 29879485 + Silent SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:29879485G>C ENST00000310624.6 + 2 1038 c.1005G>C c.(1003-1005)ctG>ctC p.L335L NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 335 Coil 2B.|Rod. cell death|nervous system development neurofilament p.L335L(1) cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 TGGAGGCACTGAAAAGCACCA 0.612000 56 159 0 0 0.139131 0 0 ITGAD 3681 broad.mit.edu 37 16 31421741 31421741 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:31421741G>A ENST00000389202.2 + 11 1158 c.1109G>A c.(1108-1110)gGg>gAg p.G370E NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 370 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity p.G370E(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGGGCTGTGGGGAGCTTTAGC 0.562000 54 99 0 0 0.139131 0 0 TOM1L2 146691 broad.mit.edu 37 17 17764829 17764829 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:17764829A>G ENST00000581396.1 - 11 1185 c.1089T>C c.(1087-1089)ctT>ctC p.L363L TOM1L2_ENST00000379504.3_Silent_p.L413L|TOM1L2_ENST00000318094.10_Silent_p.L368L|TOM1L2_ENST00000535933.1_Silent_p.L360L|TOM1L2_ENST00000395739.4_Silent_p.L368L|TOM1L2_ENST00000540946.1_Silent_p.L315L|TOM1L2_ENST00000478943.1_Silent_p.L146L|TOM1L2_ENST00000542206.1_Silent_p.L265L NM_001033551.2 NP_001028723.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 413 intracellular protein transport intracellular p.L413L(1)|p.L363L(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) GTGCAGAAGCAAGTCCTCCGA 0.502000 23 14 0 0 0.134883 0 0 NALCN 259232 broad.mit.edu 37 13 101712240 101712240 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:101712240G>A ENST00000251127.6 - 42 4916 c.4835C>T c.(4834-4836)cCc>cTc p.P1612L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1612 integral to membrane sodium channel activity|voltage-gated ion channel activity p.P1612L(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTCGATGCTGGGCGGGTTCAG 0.562000 75 174 0 0 0.139131 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68797731 68797731 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:68797731C>G ENST00000508048.1 - 4 332 c.297G>C c.(295-297)aaG>aaC p.K99N TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.K103N|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.K100N Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 103 SEA. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity p.K103N(1) breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 CTACTTGGTTCTTGATATAAT 0.358000 20 44 0 0 0.234183 0 0 C17orf51 339263 broad.mit.edu 37 17 21477578 21477578 + RNA SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:21477578C>A ENST00000536958.2 - 0 203 gtttcctcatcctggtcggcc 0.677000 8 23 4.68919e-08 5.18053e-08 0.069234 1 0 GLI4 2738 broad.mit.edu 37 8 144358399 144358399 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:144358399G>C ENST00000340042.1 + 4 641 c.556G>C c.(556-558)Gag>Cag p.E186Q GLI4_ENST00000523522.1_Missense_Mutation_p.E186Q|ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523812.1_3'UTR NM_138465.3 NP_612474.1 P10075 GLI4_HUMAN GLI family zinc finger 4 186 nucleus DNA binding|zinc ion binding p.E186Q(1) endometrium(3)|large_intestine(1)|lung(5) 9 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCACAGGTGCGAGGCCTGCGG 0.706000 7 4 0 0 0.047766 0 0 PDZD2 23037 broad.mit.edu 37 5 31799670 31799670 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:31799670G>C ENST00000438447.1 + 2 703 c.315G>C c.(313-315)aaG>aaC p.K105N PDZD2_ENST00000282493.3_Missense_Mutation_p.K105N O15018 PDZD2_HUMAN PDZ domain containing 2 105 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.K105N(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGGGCAAGAAGAGGAAAACCC 0.587000 63 92 0 0 0.139131 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885768 88885768 + Silent SNP C C G rs146041051 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:88885768C>G ENST00000319675.3 - 1 528 c.432G>C c.(430-432)ctG>ctC p.L144L NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 144 p.L144L(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CCACGAAGCACAGCAGAAGGT 0.552000 42 52 0 0 0.111260 0 0 BOD1L1 259282 broad.mit.edu 37 4 13616150 13616150 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:13616150C>G ENST00000040738.5 - 4 979 c.844G>C c.(844-846)Gac>Cac p.D282H NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 282 DNA binding p.D282H(1) CAGGGGAGGTCGCTGAACTCT 0.398000 22 5 0 0 0.091800 0 0 NRG1 3084 broad.mit.edu 37 8 32620796 32620796 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:32620796C>A ENST00000521670.1 + 12 1437 c.1329C>A c.(1327-1329)atC>atA p.I443I NRG1_ENST00000405005.2_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron Q02297 NRG1_HUMAN neuregulin 1 0 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity p.I443I(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GCATGCAGATCCAGCTATCAG 0.378000 78 125 5.04879e-28 7.04754e-28 0.139131 1 0 LOC645752 645752 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 4 222 0 0 0.184627 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377246 125377246 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:125377246C>A ENST00000297913.2 + 1 299 c.230C>A c.(229-231)aCg>aAg p.T77K RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T77K(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 ACCTCCACCACGGTCCCCAAG 0.483000 110 162 3.11409e-38 4.57632e-38 0.139131 1 0 NOS1 4842 broad.mit.edu 37 12 117657886 117657886 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:117657886C>A ENST00000317775.6 - 27 4849 c.4164G>T c.(4162-4164)cgG>cgT p.R1388R NOS1_ENST00000338101.4_Silent_p.R1422R|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1388 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.R1388R(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCACCCTCATCCGGCTGATGA 0.572000 72 88 1.69816e-31 2.41704e-31 0.139131 1 0 LRP4 4038 broad.mit.edu 37 11 46896534 46896534 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:46896534T>C ENST00000378623.1 - 28 4288 c.4046A>G c.(4045-4047)gAt>gGt p.D1349G NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1349 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity p.D1349G(1) breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) AGGAGAGGGATCACAGGTCTT 0.602000 27 54 0 0 0.108266 0 0 TTN 7273 broad.mit.edu 37 2 179606578 179606578 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179606578T>C ENST00000589042.1 - 48 11606 c.11382A>G c.(11380-11382)atA>atG p.I3794M TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I3431M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I3477M|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I3556M|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.I3623M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3477 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.I3556M(1) 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) GTGTTTCATTTATTTTAGATA 0.358000 10 10 0 0 0.093190 0 0 SAMHD1 25939 broad.mit.edu 37 20 35521455 35521455 + Silent SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:35521455T>G ENST00000262878.4 - 16 1960 c.1761A>C c.(1759-1761)atA>atC p.I587I TLDC2_ENST00000217320.3_3'UTR NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 587 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity p.I587I(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) TGAGTGGGGCTATAACATCGC 0.433000 67 65 0 0 0.139131 0 0 COL9A1 1297 broad.mit.edu 37 6 70926640 70926640 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:70926640T>G ENST00000357250.6 - 38 2884 c.2726A>C c.(2725-2727)cAg>cCg p.Q909P COL9A1_ENST00000370499.4_Missense_Mutation_p.Q666P|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.Q666P NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 909 Nonhelical region (NC1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.Q666P(1)|p.Q909P(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CTGACCAGCCTGCATGGTGCA 0.627000 21 46 0 0 0.091800 0 0 OPTC 26254 broad.mit.edu 37 1 203472096 203472096 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:203472096C>A ENST00000367222.2 + 6 903 c.787C>A c.(787-789)Ccg>Acg p.P263T NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 263 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding p.P263T(1) breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) GGATTCTATCCCGGGGCCTTT 0.547000 50 41 4.88506e-25 6.59847e-25 0.139131 1 0 KLHL40 131377 broad.mit.edu 37 3 42727898 42727898 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:42727898G>T ENST00000287777.4 + 1 888 c.788G>T c.(787-789)gGc>gTc p.G263V NM_152393.2 NP_689606.2 kelch-like family member 40 p.G263V(1) GCACACGAGGGCCGCATCACC 0.627000 32 8 8.73648e-17 1.0893e-16 0.203993 1 0 SLC35F1 222553 broad.mit.edu 37 6 118475757 118475757 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:118475757A>G ENST00000360388.4 + 2 524 c.323A>G c.(322-324)tAt>tGt p.Y108C NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 108 transport integral to membrane p.Y108C(1) breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TTCTTGGTCTATACCACCACA 0.418000 58 79 0 0 0.139131 0 0 DNAI2 64446 broad.mit.edu 37 17 72285814 72285814 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:72285814C>A ENST00000579490.1 + 4 855 c.720C>A c.(718-720)tcC>tcA p.S240S DNAI2_ENST00000311014.6_Silent_p.S183S|DNAI2_ENST00000446837.2_Silent_p.S183S|DNAI2_ENST00000582036.1_Silent_p.S183S|DNAI2_ENST00000307504.5_Silent_p.S40S Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 183 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity p.S183S(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TGGCATACTCCTGCTTGGATT 0.612000 Kartagener syndrome 59 91 4.09106e-26 5.56754e-26 0.139131 1 0 ISLR2 57611 broad.mit.edu 37 15 74425680 74425680 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:74425680G>T ENST00000361742.3 + 4 1354 c.585G>T c.(583-585)tgG>tgT p.W195C ISLR2_ENST00000453268.2_Missense_Mutation_p.W195C|ISLR2_ENST00000445793.1_Missense_Mutation_p.W195C|ISLR2_ENST00000419208.1_Missense_Mutation_p.W195C|ISLR2_ENST00000565540.1_Missense_Mutation_p.W195C|ISLR2_ENST00000435464.1_Missense_Mutation_p.W195C|ISLR2_ENST00000565159.1_Missense_Mutation_p.W195C|ISLR2_ENST00000561975.1_Intron NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 195 LRRCT. positive regulation of axon extension cell surface|integral to membrane|plasma membrane p.W195C(1) breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 TGCAGGCCTGGGCCGCGAGCA 0.687000 68 91 1.63007e-36 2.38258e-36 0.139131 1 0 CACNA1E 777 broad.mit.edu 37 1 181745256 181745256 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:181745256C>A ENST00000526775.1 + 37 5267 c.5102C>A c.(5101-5103)gCc>gAc p.A1701D CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1652D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1720D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1327D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1671D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1701D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1720D NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1720 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.A1720D(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTGTTTGTGGCCGTCATCATG 0.547000 138 342 8.20597e-53 1.26228e-52 0.139131 1 0 AP5M1 55745 broad.mit.edu 37 14 57736068 57736068 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:57736068A>T ENST00000261558.3 + 1 442 c.36A>T c.(34-36)gaA>gaT p.E12D AP5M1_ENST00000431972.2_Missense_Mutation_p.E12D NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 12 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex p.E12D(1) TAAGCCACGAACCGGGAACTC 0.493000 38 79 0 0 0.124865 0 0 DISP2 85455 broad.mit.edu 37 15 40659748 40659748 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:40659748G>A ENST00000267889.3 + 8 1522 c.1435G>A c.(1435-1437)Gag>Aag p.E479K NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 479 SSD. smoothened signaling pathway integral to membrane p.E479K(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CCTCAAGCAGGAGCTGCTGAG 0.612000 61 91 0 0 0.139131 0 0 SLIT3 6586 broad.mit.edu 37 5 168310299 168310299 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:168310299C>T ENST00000519560.1 - 5 875 c.456G>A c.(454-456)gcG>gcA p.A152A SLIT3_ENST00000332966.8_Silent_p.A152A|SLIT3_ENST00000404867.3_Silent_p.A152A NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 152 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|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.A152A(1) 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) TGCCGCGGAACGCCTTCCTCG 0.498000 31 53 0 0 0.183431 0 0 ANKRD17 26057 broad.mit.edu 37 4 74043232 74043232 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:74043232C>A ENST00000358602.4 - 2 528 c.412G>T c.(412-414)Gat>Tat p.D138Y ANKRD17_ENST00000330838.6_Missense_Mutation_p.D138Y|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D25Y NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 138 interspecies interaction between organisms cytoplasm|nucleus RNA binding p.D138Y(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCATCCTGATCCAAAATGAAA 0.418000 18 36 1.15919e-05 1.22937e-05 0.204396 1 0 AZU1 566 broad.mit.edu 37 19 830715 830715 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:830715G>T ENST00000233997.2 + 4 389 c.368G>T c.(367-369)cGt>cTt p.R123L NM_001700.3 NP_001691.1 P20160 CAP7_HUMAN azurocidin 1 123 Peptidase S1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding p.R123L(2) NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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) CAGCTGGACCGTGAGGCCAAC 0.647000 22 18 2.39556e-15 2.94964e-15 0.076483 1 0 PPM1K 152926 broad.mit.edu 37 4 89192290 89192290 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:89192290C>A ENST00000315194.4 - 4 982 c.593G>T c.(592-594)tGc>tTc p.C198F PPM1K_ENST00000506423.1_Missense_Mutation_p.C198F|PPM1K_ENST00000295908.6_Intron|PPM1K_ENST00000513546.2_Intron Q8N3J5 PPM1K_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1K 0 PP2C-like. protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) TGAAGCCCCGCATATAGTGTC 0.512000 9 11 1.76689e-08 1.96201e-08 0.058154 1 0 CDC16 8881 broad.mit.edu 37 13 115002123 115002123 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:115002123C>T ENST00000360383.3 + 2 250 c.52C>T c.(52-54)Cag>Tag p.Q18* CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000252457.5_Nonsense_Mutation_p.Q18*|CDC16_ENST00000356221.3_Nonsense_Mutation_p.Q18*|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375312.3_5'UTR NM_001078645.1|NM_003903.3 NP_001072113.1|NP_003894.3 Q13042 CDC16_HUMAN cell division cycle 16 18 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding p.Q18*(1) endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) TATGCAGCAACAGTATCAAAG 0.294000 94 86 0 0 0.139131 0 0 NLRP3 114548 broad.mit.edu 37 1 247582246 247582246 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:247582246C>A ENST00000366497.2 + 2 930 c.150C>A c.(148-150)gaC>gaA p.D50E NLRP3_ENST00000336119.3_Missense_Mutation_p.D50E|NLRP3_ENST00000348069.2_Missense_Mutation_p.D50E|NLRP3_ENST00000391827.2_Missense_Mutation_p.D50E|NLRP3_ENST00000366496.2_Missense_Mutation_p.D50E|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.D50E NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 50 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.D50E(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGAAGGCAGACCATGTGGATC 0.542000 42 24 1.47197e-15 1.81861e-15 0.098360 1 0 RAG1 5896 broad.mit.edu 37 11 36595976 36595976 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:36595976C>G ENST00000299440.5 + 2 1234 c.1122C>G c.(1120-1122)caC>caG p.H374Q NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 374 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.H374Q(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) AATATAATCACCACATCTCAA 0.458000 Familial Hemophagocytic Lymphohistiocytosis 40 51 0 0 0.124865 0 0 TSIX 9383 broad.mit.edu 37 X 73047154 73047154 + RNA SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:73047154G>T ENST00000604411.1 + 0 35115 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCCACATATGCAAAGAAATA 0.448000 38 6 1.04594e-18 1.33634e-18 0.235728 1 0 RALGAPB 57148 broad.mit.edu 37 20 37146248 37146248 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:37146248G>A ENST00000262879.6 + 8 1435 c.1151G>A c.(1150-1152)cGg>cAg p.R384Q RALGAPB_ENST00000537204.1_Missense_Mutation_p.R384Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R162Q|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R384Q|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R384Q Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 384 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.R384Q(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CCACATAACCGGAGGCACCGG 0.473000 17 111 0 0 0.189662 0 0 SAYSD1 55776 broad.mit.edu 37 6 39082790 39082790 + Nonsense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:39082790G>A ENST00000229903.4 - 1 175 c.76C>T c.(76-78)Cag>Tag p.Q26* SAYSD1_ENST00000481599.1_5'UTR NM_018322.1 NP_060792.1 Q9NPB0 CF064_HUMAN SAYSVFN motif domain containing 1 26 Ala-rich. integral to membrane p.Q26*(1) TGTGCGCCCTGACTGGCAGCA 0.672000 16 34 0 0 0.204396 0 0 STOM 2040 broad.mit.edu 37 9 124103597 124103597 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:124103597G>T ENST00000286713.2 - 7 767 c.750C>A c.(748-750)ctC>ctA p.L250L STOM_ENST00000347359.2_Silent_p.L85L|STOM_ENST00000538954.1_Silent_p.L199L NM_004099.4 NP_004090.4 P27105 STOM_HUMAN stomatin 250 protein homooligomerization cytoskeleton|integral to plasma membrane|melanosome|membrane raft protein binding p.L250L(1) endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137) GCAGGTATCGGAGCTGAAGGG 0.493000 86 146 3.16549e-35 4.59588e-35 0.139131 1 0 CFAP54 144535 broad.mit.edu 37 12 97087505 97087505 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:97087505G>T ENST00000524981.3 + 12 1623 c.1623G>T c.(1621-1623)ctG>ctT p.L541L Q6ZTY8 CL063_HUMAN 515 p.L515L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GATAGGTTCTGCCTCTCCTTG 0.284000 24 65 5.45727e-16 6.76552e-16 0.134883 1 0 CENPF 1063 broad.mit.edu 37 1 214825149 214825149 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:214825149G>C ENST00000366955.3 + 15 8248 c.8080G>C c.(8080-8082)Gag>Cag p.E2694Q CENPF_ENST00000467765.1_3'UTR NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2790 Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.E2694Q(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GAAAGTGAGAGAGGAAATAGC 0.418000 30 116 0 0 0.144211 0 0 ZNF215 7762 broad.mit.edu 37 11 6977119 6977119 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:6977119G>T ENST00000278319.5 + 7 1499 c.911G>T c.(910-912)aGt>aTt p.S304I ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.S304I NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 304 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S304I(1) NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TTTGAATGTAGTGAAAATAAG 0.338000 41 75 3.77016e-25 5.09887e-25 0.131918 1 0 LRP2 4036 broad.mit.edu 37 2 170002408 170002408 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:170002408G>A ENST00000263816.3 - 70 13122 c.12837C>T c.(12835-12837)atC>atT p.I4279I NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4279 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.I4279I(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGTCTTCAAAGATGTCCAGGC 0.413000 25 39 0 0 0.144211 0 0 AGTR1 185 broad.mit.edu 37 3 148459408 148459408 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:148459408G>T ENST00000542281.1 + 4 1032 c.586G>T c.(586-588)Ggc>Tgc p.G196C AGTR1_ENST00000349243.3_Missense_Mutation_p.G196C|AGTR1_ENST00000404754.2_Missense_Mutation_p.G196C|AGTR1_ENST00000474935.1_Missense_Mutation_p.G196C|AGTR1_ENST00000475347.1_Missense_Mutation_p.G196C|AGTR1_ENST00000402260.1_Missense_Mutation_p.G196C|AGTR1_ENST00000418473.2_Missense_Mutation_p.G196C|AGTR1_ENST00000461609.1_Missense_Mutation_p.G196C|AGTR1_ENST00000497524.1_Missense_Mutation_p.G196C NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 196 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity p.G196C(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) GATAGGGCTGGGCCTGACCAA 0.373000 66 69 1.05635e-38 1.55657e-38 0.139131 1 0 STRA8 346673 broad.mit.edu 37 7 134925343 134925343 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:134925343C>T ENST00000275764.3 + 2 133 c.133C>T c.(133-135)Cag>Tag p.Q45* NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 45 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus p.Q45*(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 AGCACAGCTGCAGGAGCTTGA 0.547000 32 60 0 0 0.117977 0 0 PID1 55022 broad.mit.edu 37 2 229890756 229890756 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:229890756G>A ENST00000392054.3 - 4 678 c.339C>T c.(337-339)gtC>gtT p.V113V PID1_ENST00000354069.6_Silent_p.V115V|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.V82V|PID1_ENST00000409462.1_Silent_p.V33V NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 115 PID. cytoplasm p.V113V(1) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) AGAGCTCAATGACTGGCTTTT 0.537000 43 69 0 0 0.131918 0 0 MIR513B 100313822 broad.mit.edu 37 X 146280622 146280622 + RNA SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:146280622C>A ENST00000385136.2 - 0 23 NR_031708.1 taaatgacacctccttgtgaa 0.428000 25 1 9.04412e-07 9.80231e-07 0.099896 1 0 PTGDR 5729 broad.mit.edu 37 14 52735298 52735298 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:52735298C>T ENST00000306051.2 + 1 868 c.766C>T c.(766-768)Cag>Tag p.Q256* PTGDR_ENST00000553372.1_Nonsense_Mutation_p.Q256* NM_000953.2 NP_000944.1 Q13258 PD2R_HUMAN prostaglandin D2 receptor (DP) 256 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding p.Q256*(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) AGCGTCCCCTCAGCCCCTGGA 0.682000 88 108 0 0 0.139131 0 0 FBN3 84467 broad.mit.edu 37 19 8148210 8148210 + Silent SNP C C T rs138737465 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:8148210C>T ENST00000600128.1 - 57 7548 c.7134G>A c.(7132-7134)gaG>gaA p.E2378E FBN3_ENST00000270509.2_Silent_p.E2378E|FBN3_ENST00000601739.1_Silent_p.E2378E Q75N90 FBN3_HUMAN fibrillin 3 2378 EGF-like 38; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.E2378E(1) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGTTGATGCACTCCCCATGAG 0.602000 38 44 0 0 0.104719 0 0 DDX4 54514 broad.mit.edu 37 5 55056085 55056085 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:55056085G>T ENST00000505374.1 + 4 277 c.185G>T c.(184-186)gGg>gTg p.G62V DDX4_ENST00000354991.5_Missense_Mutation_p.G62V|DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.G62V|DDX4_ENST00000514278.2_Missense_Mutation_p.G62V NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 62 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding p.G62V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TTTGCCTCTGGGCGGAATTTT 0.363000 47 14 2.14255e-21 2.81016e-21 0.139131 1 0 C5orf22 55322 broad.mit.edu 37 5 31538419 31538419 + Missense_Mutation SNP G G T rs142150259 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:31538419G>T ENST00000325366.9 + 4 557 c.430G>T c.(430-432)Gac>Tac p.D144Y C5orf22_ENST00000355907.3_5'UTR NM_018356.2 NP_060826.2 Q49AR2 CE022_HUMAN chromosome 5 open reading frame 22 144 p.D144Y(1) kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1) 18 TGTACCTGAAGACCAGCTAGA 0.353000 42 85 3.61848e-18 4.59073e-18 0.098360 1 0 VPS13C 54832 broad.mit.edu 37 15 62209737 62209737 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:62209737C>T ENST00000261517.5 - 60 7931 c.7858G>A c.(7858-7860)Gaa>Aaa p.E2620K VPS13C_ENST00000249837.3_Missense_Mutation_p.E2577K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E2577K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2620K NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2620 protein localization p.E2620K(2) NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CATCTGACTTCCCTGCTCCTA 0.418000 13 58 0 0 0.132662 0 0 CBLL1 79872 broad.mit.edu 37 7 107398942 107398942 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:107398942A>G ENST00000440859.2 + 6 1262 c.795A>G c.(793-795)gcA>gcG p.A265A CBLL1_ENST00000222597.2_Silent_p.A264A|CBLL1_ENST00000415884.2_3'UTR NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 265 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding p.A265A(1) endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 CTCCTCCAGCAGAATTGTCCA 0.478000 38 43 0 0 0.225048 0 0 TMC1 117531 broad.mit.edu 37 9 75366861 75366861 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:75366861A>G ENST00000297784.5 + 11 1171 c.631A>G c.(631-633)Atg>Gtg p.M211V TMC1_ENST00000396237.3_Missense_Mutation_p.M211V|TMC1_ENST00000340019.3_Missense_Mutation_p.M211V NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 211 sensory perception of sound integral to membrane p.M211V(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TAGCCTCATCATGTTGCCAGA 0.373000 64 85 0 0 0.139131 0 0 CELSR1 9620 broad.mit.edu 37 22 46785372 46785372 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:46785372T>C ENST00000262738.3 - 18 6369 c.6370A>G c.(6370-6372)Acg>Gcg p.T2124A NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2124 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity p.T2124A(1) breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCCACCTGCGTCTCATTGCGG 0.617000 21 9 0 0 0.163468 0 0 RYR2 6262 broad.mit.edu 37 1 237982348 237982348 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:237982348C>A ENST00000366574.2 + 101 14763 c.14446C>A c.(14446-14448)Cac>Aac p.H4816N RYR2_ENST00000360064.6_Missense_Mutation_p.H4822N|RYR2_ENST00000542537.1_Missense_Mutation_p.H4800N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4816 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.H4814N(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) CTATATGTTCCACATGTATGT 0.423000 43 34 2.37825e-27 3.2818e-27 0.117977 1 0 OR51V1 283111 broad.mit.edu 37 11 5221647 5221647 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:5221647C>A ENST00000321255.1 - 1 283 c.284G>T c.(283-285)tGg>tTg p.W95L NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W95L(1) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATGATCCCCCACAGGATCCC 0.547000 29 29 1.57351e-24 2.11752e-24 0.193644 1 0 WSCD2 9671 broad.mit.edu 37 12 108618519 108618519 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:108618519G>T ENST00000332082.4 + 6 1504 c.686G>T c.(685-687)gGa>gTa p.G229V WSCD2_ENST00000261400.3_Missense_Mutation_p.G229V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G229V|WSCD2_ENST00000547525.1_Missense_Mutation_p.G229V Q2TBF2 WSCD2_HUMAN WSC domain containing 2 229 integral to membrane p.G229V(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TCTTCAGATGGAAGTGCAGTG 0.522000 65 88 8.07507e-42 1.21126e-41 0.139131 1 0 CRYGC 1420 broad.mit.edu 37 2 208993022 208993022 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:208993022A>G ENST00000282141.3 - 3 467 c.430T>C c.(430-432)Tac>Cac p.Y144H NM_020989.3 NP_066269.1 P07315 CRGC_HUMAN crystallin, gamma C 144 Beta/gamma crystallin 'Greek key' 4. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens p.Y144H(1) NS(1)|endometrium(1)|large_intestine(2)|lung(5) 9 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CTCAGCAGGTATTGCCGCCCC 0.607000 46 59 0 0 0.139131 0 0 PARP14 54625 broad.mit.edu 37 3 122437240 122437240 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:122437240A>T ENST00000474629.2 + 14 4508 c.4242A>T c.(4240-4242)aaA>aaT p.K1414N PARP14_ENST00000475640.1_3'UTR NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1414 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity p.K1251N(1)|p.K1414N(1) NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CTCCCCAAAAAAAGAATCATT 0.363000 46 115 0 0 0.124865 0 0 SMYD3 64754 broad.mit.edu 37 1 245912968 245912968 + Splice_Site SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:245912968T>A ENST00000490107.1 - 12 1225 c.e12-2 SMYD3_ENST00000388985.4_Splice_Site|SMYD3_ENST00000541742.1_Splice_Site|SMYD3_ENST00000366517.1_Splice_Site NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding p.?(2) breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) ATCAAAAGCCTAAAGAGAAAG 0.478000 24 39 0 0 0.076483 0 0 OPLAH 26873 broad.mit.edu 37 8 145113186 145113186 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:145113186T>C ENST00000426825.1 - 7 986 c.905A>G c.(904-906)tAc>tGc p.Y302C OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 302 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding p.Y302C(1) breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CTCCTGCTGGTAGGTGGTGGC 0.706000 4 8 0 0 0.217242 0 0 OR4M2 390538 broad.mit.edu 37 15 22369125 22369125 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:22369125G>T ENST00000332663.2 + 1 648 c.550G>T c.(550-552)Gtt>Ttt p.V184F RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V184F(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CATCACACAGGTTGTCCGGAT 0.473000 71 312 1.92282e-43 2.89623e-43 0.139131 1 0 EPHA5 2044 broad.mit.edu 37 4 66356361 66356361 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:66356361G>T ENST00000273854.3 - 5 1736 c.1136C>A c.(1135-1137)cCg>cAg p.P379Q EPHA5_ENST00000354839.4_Missense_Mutation_p.P379Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.P379Q|EPHA5_ENST00000432638.2_Intron NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 379 Fibronectin type-III 1. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.P379Q(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GTCAGCAGGCGGAATCCATTC 0.458000 TSP Lung(17;0.13) 7 32 0.0293803 0.0296259 0.029380 1 0 HAPLN1 1404 broad.mit.edu 37 5 82940463 82940463 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:82940463G>T ENST00000274341.4 - 4 1344 c.494C>A c.(493-495)cCa>cAa p.P165Q NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 165 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding p.P165Q(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CCCCAGTCGTGGAAAGTAAGG 0.522000 14 20 2.31682e-05 2.43334e-05 0.132662 1 0 ERV3-1 2086 broad.mit.edu 37 7 64453245 64453245 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:64453245C>G ENST00000394323.2 - 2 660 c.160G>C c.(160-162)Gct>Cct p.A54P NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 54 virion p.A54P(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 caggtcccagcacactcataa 0.507000 46 72 0 0 0.139131 0 0 BIVM-ERCC5 100533467 broad.mit.edu 37 13 103492110 103492110 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:103492110C>T ENST00000602836.1 + 9 1321 c.1321C>T c.(1321-1323)Cag>Tag p.Q441* BIVM_ENST00000257336.1_Silent_p.F469F|BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Silent_p.F247F NM_001204425.1 NP_001191354.1 Q59FZ7 Q59FZ7_HUMAN 0 nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding p.F469F(1) GCCGGTCTTTCAGTGCTAGTT 0.473000 77 402 0 0 0.139131 0 0 HEATR1 55127 broad.mit.edu 37 1 236723047 236723047 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:236723047C>A ENST00000366582.3 - 34 4851 c.4737G>T c.(4735-4737)gcG>gcT p.A1579A HEATR1_ENST00000366581.2_Silent_p.A1498A NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1579 rRNA processing nucleolus|ribonucleoprotein complex protein binding p.A1579A(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TACTAAGGAGCGCGCGCCAGA 0.433000 116 68 2.08041e-53 3.20927e-53 0.139131 1 0 PHOSPHO2 493911 broad.mit.edu 37 2 170557488 170557488 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:170557488A>G ENST00000359744.3 + 4 395 c.7A>G c.(7-9)Att>Gtt p.I3V KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1 NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1 Q8TCD6 PHOP2_HUMAN phosphatase, orphan 2 3 metal ion binding|pyridoxal phosphatase activity p.I3V(1) breast(1)|large_intestine(1)|lung(6)|skin(2) 10 AACCATGAAAATTTTGCTAGT 0.308000 30 30 0 0 0.153744 0 0 TTC21B 79809 broad.mit.edu 37 2 166747500 166747500 + Splice_Site SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:166747500T>A ENST00000243344.7 - 23 3088 c.e23-2 NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B cilium axoneme|cytoplasm|cytoskeleton binding p.?(1) breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 TATAATTATCTAGAAACAAAT 0.303000 10 16 0 0 0.080935 0 0 KCNAB1 7881 broad.mit.edu 37 3 156009858 156009858 + Silent SNP G G T rs138625130 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:156009858G>T ENST00000302490.8 + 1 1033 c.162G>T c.(160-162)acG>acT p.T54T KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Silent_p.T54T NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 72 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity p.T54T(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GGACGTTCACGCCTCAGCATC 0.567000 24 46 3.28513e-13 3.92049e-13 0.091800 1 0 BBOX1 8424 broad.mit.edu 37 11 27078769 27078769 + Missense_Mutation SNP G G A rs147348000 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:27078769G>A ENST00000263182.3 + 4 609 c.241G>A c.(241-243)Gag>Aag p.E81K BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000529202.1_Missense_Mutation_p.E81K|BBOX1_ENST00000525090.1_Missense_Mutation_p.E81K|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.E81K NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 81 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding p.E81K(1) breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) ATGGCCCGATGAGCATTACAG 0.398000 12 108 0 0 0.080935 0 0 KIAA2022 340533 broad.mit.edu 37 X 73959987 73959987 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:73959987G>T ENST00000373468.1 - 3 5056 c.4405C>A c.(4405-4407)Cga>Aga p.R1469R KIAA2022_ENST00000055682.5_Silent_p.R1469R Q5QGS0 K2022_HUMAN KIAA2022 1469 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity p.R1469R(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ACCTGTTCTCGCTCCATGTGC 0.468000 54 11 2.5401e-28 3.55483e-28 0.139131 1 0 CYP7A1 1581 broad.mit.edu 37 8 59409478 59409478 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:59409478T>C ENST00000301645.3 - 3 730 c.593A>G c.(592-594)cAg>cGg p.Q198R NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 198 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding p.Q198R(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) ATGTGCTTTCTGTGTGTCCCG 0.463000 Neonatal Giant Cell Hepatitis 46 84 0 0 0.131918 0 0 LPP 4026 broad.mit.edu 37 3 188327238 188327238 + Nonsense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:188327238C>G ENST00000312675.4 + 6 965 c.719C>G c.(718-720)tCa>tGa p.S240* LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Nonsense_Mutation_p.S240*|LPP_ENST00000448637.1_Nonsense_Mutation_p.S240* NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 240 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding p.S240*(1) HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GCCCCTTCATCAGGACAAATT 0.552000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 8 132 0 0 0.069234 0 0 ALDH9A1 223 broad.mit.edu 37 1 165651442 165651442 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:165651442T>C ENST00000354775.4 - 4 798 c.494A>G c.(493-495)tAt>tGt p.Y165C ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Missense_Mutation_p.Y71C NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 141 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity p.Y165C(1)|p.Y141C(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) TCTTCTGGTATAACCAAACGA 0.502000 6 97 0 0 0.217242 0 0 EMR1 2015 broad.mit.edu 37 19 6908736 6908736 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:6908736G>T ENST00000312053.4 + 10 1112 c.1075G>T c.(1075-1077)Gtt>Ttt p.V359F EMR1_ENST00000381407.5_Missense_Mutation_p.V218F|EMR1_ENST00000381404.4_Missense_Mutation_p.V307F|EMR1_ENST00000250572.8_Missense_Mutation_p.V359F|EMR1_ENST00000450315.3_Missense_Mutation_p.V182F NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 359 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity p.V359F(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CATCTTCAGCGTTCTGGACAA 0.383000 17 68 6.33239e-15 7.72693e-15 0.219247 1 0 SYK 6850 broad.mit.edu 37 9 93637067 93637067 + Nonsense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:93637067G>T ENST00000375754.4 + 9 1265 c.1117G>T c.(1117-1119)Gaa>Taa p.E373* SYK_ENST00000375746.1_Nonsense_Mutation_p.E373*|SYK_ENST00000375747.1_Nonsense_Mutation_p.E350*|SYK_ENST00000375751.4_Nonsense_Mutation_p.E350* NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 373 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity p.E373*(1)|p.E350*(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GCTGACGCTGGAAGACAAAGA 0.522000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 101 180 2.20344e-50 3.35615e-50 0.139131 1 0 OR4N5 390437 broad.mit.edu 37 14 20612581 20612581 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:20612581C>A ENST00000333629.1 + 1 687 c.687C>A c.(685-687)tcC>tcA p.S229S NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S229S(1) endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GGGAGCACTCCTCTGAAGGAA 0.493000 65 86 1.12612e-26 1.54805e-26 0.139131 1 0 DIDO1 11083 broad.mit.edu 37 20 61511984 61511984 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:61511984C>G ENST00000266070.4 - 16 5649 c.5324G>C c.(5323-5325)aGg>aCg p.R1775T DIDO1_ENST00000395343.1_Missense_Mutation_p.R1775T NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1775 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.R1775T(1) 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) GGCTGGCCCCCTTGGTCCCGG 0.632000 129 125 0 0 0.139131 0 0 NALCN 259232 broad.mit.edu 37 13 101833456 101833456 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:101833456T>C ENST00000376196.3 - 15 2156 c.1997A>G c.(1996-1998)aAt>aGt p.N666S NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000251127.6_Intron Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 0 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTATCGAAGATTGTGAGACAA 0.493000 117 428 0 0 0.139131 0 0 OR5M11 219487 broad.mit.edu 37 11 56310201 56310201 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:56310201C>G ENST00000528616.2 - 1 556 c.533G>C c.(532-534)tGt>tCt p.C178S NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C179S(1)|p.C178S(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 CGGGTCAGCACAGTAGAAGTG 0.493000 11 10 0 0 0.105934 0 0 GPR123 84435 broad.mit.edu 37 10 134884455 134884455 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:134884455C>A ENST00000607359.1 + 1 23 c.23C>A c.(22-24)tCg>tAg p.S8* Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity p.S8*(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GGGAACCACTCGCGGCTGAAA 0.642000 6 1 0.00198382 0.00203056 0.029380 1 0 TTN 7273 broad.mit.edu 37 2 179456358 179456358 + Missense_Mutation SNP G G C rs1560220 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179456358G>C ENST00000589042.1 - 303 60412 c.60188C>G c.(60187-60189)aCa>aGa p.T20063R TTN_ENST00000460472.2_Missense_Mutation_p.T10998R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T18422R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T11123R|TTN_ENST00000342992.6_Missense_Mutation_p.T17495R|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11190R|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18422 Fibronectin type-III 45. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T11190R(1)|p.T11123R(1)|p.T10998R(1)|p.T17493R(1)|p.T17495R(1) 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) CGGGATAGTTGTGTCAGGGAG 0.348000 100 173 0 0 0.139131 0 0 TNIK 23043 broad.mit.edu 37 3 170928949 170928949 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:170928949C>A ENST00000436636.2 - 4 606 c.262G>T c.(262-264)Gct>Tct p.A88S TNIK_ENST00000369326.5_Missense_Mutation_p.A88S|TNIK_ENST00000284483.8_Missense_Mutation_p.A88S|TNIK_ENST00000538048.1_Missense_Mutation_p.A88S|TNIK_ENST00000470834.1_Missense_Mutation_p.A88S|TNIK_ENST00000460047.1_Missense_Mutation_p.A88S|TNIK_ENST00000488470.1_Missense_Mutation_p.A88S|TNIK_ENST00000357327.5_Missense_Mutation_p.A88S|TNIK_ENST00000475336.1_Missense_Mutation_p.A88S|TNIK_ENST00000341852.6_Missense_Mutation_p.A88S NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 88 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.A88S(2) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TTGATAAAAGCACCATAGTAT 0.348000 6 94 5.18039e-06 5.52643e-06 0.038147 1 0 FAP 2191 broad.mit.edu 37 2 163072468 163072468 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:163072468G>C ENST00000188790.4 - 10 1013 c.806C>G c.(805-807)aCc>aGc p.T269S FAP_ENST00000443424.1_Missense_Mutation_p.T244S NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 269 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.T269S(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 AGGGTAAGTGGTATCGATAAT 0.408000 3 53 0 0 0.150653 0 0 UBE4B 10277 broad.mit.edu 37 1 10197141 10197141 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:10197141A>G ENST00000377157.3 + 16 2567 c.1506A>G c.(1504-1506)ccA>ccG p.P502P UBE4B_ENST00000343090.6_Silent_p.P747P|UBE4B_ENST00000253251.8_Silent_p.P618P NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 747 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding p.P747P(1)|p.P618P(1) NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) ATCAGCCTCCATTTTCTGAGC 0.428000 68 94 0 0 0.139131 0 0 PTPRM 5797 broad.mit.edu 37 18 7774262 7774262 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:7774262G>T ENST00000332175.8 + 2 1226 c.189G>T c.(187-189)atG>atT p.M63I PTPRM_ENST00000580170.1_Missense_Mutation_p.M63I|PTPRM_ENST00000400053.4_Start_Codon_SNP_p.M1I|PTPRM_ENST00000400060.4_Missense_Mutation_p.M63I NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 63 MAM. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity p.M63I(1) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) ATCCATGGATGCCATCAGGTT 0.393000 61 31 1.72039e-30 2.43591e-30 0.139131 1 0 PKD1L2 114780 broad.mit.edu 37 16 81198331 81198331 + RNA SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:81198331G>C ENST00000533478.1 - 0 1318 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding p.A403G(1)|p.A1088G(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGAGTCTGCGGCATCAGGGCG 0.602000 50 59 0 0 0.139131 0 0 RIN3 79890 broad.mit.edu 37 14 93142837 93142837 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:93142837G>T ENST00000216487.7 + 8 2512 c.2353G>T c.(2353-2355)Gat>Tat p.D785Y RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 785 VPS9. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding p.D785Y(1) endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CTATGGGGCGGATGACTTCCT 0.582000 26 69 1.13719e-10 1.30825e-10 0.134883 1 0 RELN 5649 broad.mit.edu 37 7 103276759 103276759 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:103276759G>T ENST00000424685.2 - 18 2385 c.2226C>A c.(2224-2226)gcC>gcA p.A742A RELN_ENST00000343529.5_Silent_p.A742A|RELN_ENST00000428762.1_Silent_p.A742A P78509 RELN_HUMAN reelin 742 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.A742A(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCTTACCACTGGCCAAGACAC 0.468000 11 22 2.32078e-09 2.61449e-09 0.132662 1 0 F11 2160 broad.mit.edu 37 4 187206814 187206814 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:187206814C>T ENST00000264692.4 + 12 1504 c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C F11_ENST00000403665.2_Missense_Mutation_p.R443C P03951 FA11_HUMAN coagulation factor XI 443 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity p.R443C(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TAAGATTTTGCGTGTCTACAG 0.358000 5 161 0 0 0.184627 0 0 GSTM2 2946 broad.mit.edu 37 1 110212186 110212186 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:110212186C>T ENST00000369831.2 + 5 447 c.353C>T c.(352-354)cCa>cTa p.P118L GSTM2_ENST00000464206.1_Intron|GSTM2_ENST00000241337.4_Missense_Mutation_p.P118L|GSTM2_ENST00000369827.3_Missense_Mutation_p.P116L|GSTM2_ENST00000460717.3_Missense_Mutation_p.P118L|GSTM2_ENST00000414179.2_Missense_Mutation_p.P14L|GSTM2_ENST00000442650.1_Missense_Mutation_p.P118L|GSTM2_ENST00000369829.2_Missense_Mutation_p.P118L glutathione S-transferase mu 2 (muscle) p.P118L(3) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) TGCTATGACCCAGATTTTGTA 0.522000 15 6 0 0 0.132662 0 0 PIGN 23556 broad.mit.edu 37 18 59739950 59739950 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:59739950G>A ENST00000357637.5 - 30 3043 c.2628C>T c.(2626-2628)ttC>ttT p.F876F PIGN_ENST00000400334.3_Silent_p.F876F NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 876 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups p.F876F(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) TGACCAAGAAGAAAAAATGCT 0.318000 4 4 0 0 0.184627 0 0 KCNJ5 3762 broad.mit.edu 37 11 128786320 128786320 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:128786320C>A ENST00000529694.1 + 3 1330 c.954C>A c.(952-954)gcC>gcA p.A318A KCNJ5_ENST00000338350.4_Silent_p.A318A|KCNJ5_ENST00000533599.1_Silent_p.A318A NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 318 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.A318A(1) NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CCTGCCAAGCCCGGAGCTCCT 0.502000 61 45 3.63617e-18 4.60243e-18 0.139131 1 0 WDFY3 23001 broad.mit.edu 37 4 85701338 85701338 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:85701338C>A ENST00000322366.6 - 26 4695 c.4288G>T c.(4288-4290)Gca>Tca p.A1430S WDFY3_ENST00000295888.4_Missense_Mutation_p.A1430S Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1430 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding p.A1430S(1) breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCTTGACTGCTGCATATAAC 0.512000 43 96 1.97e-11 2.29798e-11 0.117977 1 0 CHRNA6 8973 broad.mit.edu 37 8 42620311 42620311 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:42620311T>C ENST00000276410.2 - 2 471 c.116A>G c.(115-117)cAc>cGc p.H39R CHRNA6_ENST00000534622.1_Missense_Mutation_p.H39R|CHRNA6_ENST00000530869.1_5'UTR NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 39 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.H39R(1) endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAACAGTTTGTGGAAGAGCCT 0.547000 87 104 0 0 0.139131 0 0 FGFBP1 9982 broad.mit.edu 37 4 15937647 15937647 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:15937647C>A ENST00000382333.1 - 3 903 c.609G>T c.(607-609)atG>atT p.M203I FGFBP1_ENST00000259988.2_Missense_Mutation_p.M203I NM_005130.4 NP_005121.1 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 203 Sufficient for interaction with FGF2 and FGF2-induced effects. cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding p.M203N(1) NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 TCTGGTTTGCCATATCTGGGT 0.552000 92 30 1.07466e-44 1.6232e-44 0.139131 1 0 ATP2C1 27032 broad.mit.edu 37 3 130694302 130694302 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:130694302A>C ENST00000510168.1 + 18 2090 c.1540A>C c.(1540-1542)Aag>Cag p.K514Q ATP2C1_ENST00000505330.1_Missense_Mutation_p.K498Q|ATP2C1_ENST00000328560.8_Missense_Mutation_p.K514Q|ATP2C1_ENST00000504381.1_Missense_Mutation_p.K459Q|ATP2C1_ENST00000508532.1_Missense_Mutation_p.K514Q|ATP2C1_ENST00000504948.1_Missense_Mutation_p.K498Q|ATP2C1_ENST00000513801.1_Missense_Mutation_p.K498Q|ATP2C1_ENST00000533801.2_Missense_Mutation_p.K509Q|ATP2C1_ENST00000393221.4_Missense_Mutation_p.K548Q|ATP2C1_ENST00000507488.2_Missense_Mutation_p.K498Q|ATP2C1_ENST00000359644.3_Missense_Mutation_p.K514Q|ATP2C1_ENST00000422190.2_Missense_Mutation_p.K514Q|ATP2C1_ENST00000428331.2_Missense_Mutation_p.K514Q P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 514 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity p.K514Q(1) breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) CCAACAAGAGAAGGCACGCAT 0.468000 Hailey-Hailey disease 38 21 0 0 0.104719 0 0 RARS 5917 broad.mit.edu 37 5 167943903 167943903 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:167943903G>A ENST00000231572.3 + 13 1627 c.1573G>A c.(1573-1575)Gat>Aat p.D525N RARS_ENST00000538719.1_Missense_Mutation_p.D319N NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 525 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding p.D525N(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) CAAAATGCTAGATGACAGAGG 0.403000 117 185 0 0 0.139131 0 0 MYT1L 23040 broad.mit.edu 37 2 1926072 1926072 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:1926072G>T ENST00000399161.2 - 10 2216 c.1469C>A c.(1468-1470)cCa>cAa p.P490Q MYT1L_ENST00000428368.2_Missense_Mutation_p.P490Q NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 490 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P490K(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ACCATAGTATGGCTTTTTGAC 0.448000 31 52 1.836e-18 2.33477e-18 0.193644 1 0 COL16A1 1307 broad.mit.edu 37 1 32167741 32167741 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:32167741G>A ENST00000373672.3 - 2 570 c.54C>T c.(52-54)ttC>ttT p.F18F COL16A1_ENST00000271069.6_Silent_p.F18F|COL16A1_ENST00000373668.3_Silent_p.F18F NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 18 cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity p.F18F(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CCCCATGGCCGAAGGTAGCCC 0.572000 34 38 0 0 0.214465 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873596 91873596 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:91873596G>T ENST00000373094.1 + 7 4546 c.3701G>T c.(3700-3702)aGc>aTc p.S1234I PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1224I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1216I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1197I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1197I|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1226I NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1234 homophilic cell adhesion integral to plasma membrane calcium ion binding p.S1234I(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTTCACCACAGCCCACCATCA 0.587000 144 18 5.4935e-104 8.6967e-104 0.139131 1 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 21 38 0 0 0.083992 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846756 47846756 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:47846756C>A ENST00000339488.4 - 3 1857 c.1824G>T c.(1822-1824)ttG>ttT p.L608F NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 608 integral to membrane hedgehog receptor activity p.L608F(1) CCACCAGATACAAGCGAGAAG 0.438000 34 63 1.836e-18 2.33477e-18 0.193644 1 0 MYH6 4624 broad.mit.edu 37 14 23872969 23872969 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:23872969G>A ENST00000405093.3 - 9 824 c.754C>T c.(754-756)Cac>Tac p.H252Y MYH6_ENST00000356287.3_Missense_Mutation_p.H252Y NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 252 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.I251>?(1)|p.H252Y(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCCCCAAAGTGGATCCTAATG 0.582000 6 12 0 0 0.069234 0 0 HAVCR1 26762 broad.mit.edu 37 5 156476144 156476144 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:156476144G>A ENST00000339252.3 - 4 1218 c.686C>T c.(685-687)cCa>cTa p.P229L HAVCR1_ENST00000522693.1_Missense_Mutation_p.P229L|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P229L|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P229L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P229L NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 224 interspecies interaction between organisms integral to membrane receptor activity p.P229L(1) endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGTGAAGATGGTGAAGTGGC 0.443000 57 108 0 0 0.139131 0 0 MSRA 4482 broad.mit.edu 37 8 10177494 10177494 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:10177494C>T ENST00000528246.1 + 6 963 c.340C>T c.(340-342)Caa>Taa p.Q114* MSRA_ENST00000518255.1_Nonsense_Mutation_p.Q180*|MSRA_ENST00000441698.2_Nonsense_Mutation_p.Q140*|MSRA_ENST00000382490.5_Nonsense_Mutation_p.Q137*|MSRA_ENST00000317173.4_Nonsense_Mutation_p.Q180* NM_001199729.1 NP_001186658.1 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A 180 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity p.Q180*(1) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) AGAGAACTACCAAAAGGTAGG 0.562000 6 17 0 0 0.217242 0 0 OR2C3 81472 broad.mit.edu 37 1 247695456 247695456 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:247695456A>C ENST00000366487.3 - 2 719 c.358T>G c.(358-360)Tcc>Gcc p.S120A GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S119A(1) breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CGGTCATAGGACATGGTGGCC 0.567000 26 28 0 0 0.125774 0 0 FAM21C 253725 broad.mit.edu 37 10 46248088 46248088 + Silent SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:46248088G>C ENST00000336378.4 + 12 1174 c.1056G>C c.(1054-1056)tcG>tcC p.S352S FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000540872.1_Silent_p.S352S|FAM21C_ENST00000374362.2_Silent_p.S352S NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 352 p.S351S(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 AGGACTTCTCGCCATTTGGCT 0.532000 88 137 0 0 0.139131 0 0 LGSN 51557 broad.mit.edu 37 6 63990184 63990184 + Silent SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:63990184A>T ENST00000370657.4 - 4 1305 c.1272T>A c.(1270-1272)gtT>gtA p.V424V LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 424 glutamine biosynthetic process glutamate-ammonia ligase activity p.V424V(1) NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) AGCCGGCAGCAACAGTTGCAG 0.448000 56 56 0 0 0.139131 0 0 ORM1 5004 broad.mit.edu 37 9 117086000 117086000 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:117086000T>G ENST00000259396.8 + 2 250 c.172T>G c.(172-174)Tcg>Gcg p.S58A ORM1_ENST00000538816.1_3'UTR NM_000607.2 NP_000598.2 P02763 A1AG1_HUMAN orosomucoid 1 58 acute-phase response|regulation of immune system process|transport extracellular space protein binding p.S58A(1) endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) GTACAATAAGTCGGTTCAGGA 0.512000 17 89 0 0 0.204396 0 0 PPP1R35 221908 broad.mit.edu 37 7 100033311 100033311 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:100033311G>T ENST00000292330.2 - 3 721 c.531C>A c.(529-531)gcC>gcA p.A177A RP11-758P17.2_ENST00000492523.1_RNA|PPP1R35_ENST00000476185.1_Intron NM_145030.2 NP_659467.1 Q8TAP8 CG047_HUMAN protein phosphatase 1, regulatory subunit 35 177 p.A177A(1) CCCTGAGCGCGGCATTCAGAA 0.667000 5 12 0.0293803 0.0296259 0.029380 1 0 PCDHGB3 56102 broad.mit.edu 37 5 140750326 140750326 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140750326T>A ENST00000576222.1 + 1 496 c.365T>A c.(364-366)cTg>cAg p.L122Q PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAACTGTGCTGATCCAGGAT 0.448000 111 153 0 0 0.139131 0 0 CBL 867 broad.mit.edu 37 11 119144584 119144584 + Silent SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:119144584A>T ENST00000264033.4 + 4 973 c.597A>T c.(595-597)atA>atT p.I199I NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 199 Cbl-PTB.|EF-hand-like. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.I199I(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CCAGGACAATAGTCCCTTGGA 0.493000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 18 42 0 0 0.189662 0 0 OTUD7B 56957 broad.mit.edu 37 1 149915923 149915923 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:149915923C>A ENST00000369135.3 - 12 2659 c.2365G>T c.(2365-2367)Gct>Tct p.A789S NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 789 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding p.A789S(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) AGACCTCCAGCCCATCCATCT 0.547000 55 98 1.67886e-27 2.31964e-27 0.139131 1 0 TSG101 7251 broad.mit.edu 37 11 18541090 18541090 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:18541090G>C ENST00000536719.1 - 2 237 c.103C>G c.(103-105)Ctc>Gtc p.L35V TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Missense_Mutation_p.L35V Q99816 TS101_HUMAN tumor susceptibility 101 35 UEV. cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding p.L35V(1) kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 ACAGGTTTGAGATCTTTGTAT 0.294000 37 64 0 0 0.104719 0 0 FAT3 120114 broad.mit.edu 37 11 92616156 92616156 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:92616156G>T ENST00000298047.6 + 23 12551 c.12534G>T c.(12532-12534)aaG>aaT p.K4178N FAT3_ENST00000409404.2_Missense_Mutation_p.K4178N|FAT3_ENST00000525166.1_Missense_Mutation_p.K4028N|FAT3_ENST00000533797.1_Missense_Mutation_p.K513N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4178 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.K4178N(2)|p.K753N(1) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCCGCAAGAAGGTCTTCCGCA 0.582000 TCGA Ovarian(4;0.039) 10 16 3.07112e-06 3.27948e-06 0.080935 1 0 MTSS1 9788 broad.mit.edu 37 8 125603417 125603417 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:125603417C>A ENST00000518547.1 - 4 741 c.268G>T c.(268-270)Gaa>Taa p.E90* MTSS1_ENST00000378017.3_Nonsense_Mutation_p.E90*|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Nonsense_Mutation_p.E90* NM_014751.4 NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 90 IMD. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding p.E90*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AGCTTGGCTTCAATGCTTCTG 0.517000 32 24 6.50621e-10 7.38322e-10 0.173368 1 0 ZNF257 113835 broad.mit.edu 37 19 22271507 22271507 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:22271507G>A ENST00000594947.1 + 4 1099 c.955G>A c.(955-957)Gaa>Aaa p.E319K NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E319K(1) haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) CTACAAATGTGAAGAGTGTGG 0.423000 4 38 0 0 0.184627 0 0 ZDHHC22 283576 broad.mit.edu 37 14 77605913 77605913 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:77605913G>T ENST00000319374.4 - 2 371 c.169C>A c.(169-171)Ctc>Atc p.L57I RP11-463C8.4_ENST00000557752.1_Intron NM_174976.2 NP_777636.2 Q8N966 ZDH22_HUMAN zinc finger, DHHC-type containing 22 57 integral to membrane acyltransferase activity|zinc ion binding p.L57I(2) kidney(1)|lung(1)|urinary_tract(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0277) TTGGCCGAGAGGAATAGGAAG 0.687000 OREG0022834 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 12 0.000602214 0.000621087 0.184627 1 0 LRP1B 53353 broad.mit.edu 37 2 141459344 141459344 + Missense_Mutation SNP C C A rs147767913 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:141459344C>A ENST00000389484.3 - 40 7344 c.6373G>T c.(6373-6375)Ggc>Tgc p.G2125C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2125 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G2125C(1)|p.G2125S(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACTCCAAGGCCGGTTCTCATG 0.403000 TSP Lung(27;0.18) 31 50 4.74835e-14 5.74244e-14 0.153744 1 0 LPA 4018 broad.mit.edu 37 6 161027594 161027594 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:161027594C>T ENST00000447678.1 - 18 2820 c.2700G>A c.(2698-2700)ctG>ctA p.L900L LPA_ENST00000316300.5_Silent_p.L900L NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3408 Kringle 8. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.L900L(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AGCATTGTGTCAGGTTGCAGT 0.542000 40 114 0 0 0.117977 0 0 SIX3 6496 broad.mit.edu 37 2 45170024 45170024 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:45170024G>T ENST00000260653.3 + 1 1123 c.781G>T c.(781-783)Gac>Tac p.D261Y NM_005413.3 NP_005404.1 O95343 SIX3_HUMAN SIX homeobox 3 261 visual perception nucleus p.D261Y(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1) 11 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GCGGCAGCGCGACCGCGCCGC 0.677000 14 28 1.02788e-11 1.2081e-11 0.160694 1 0 TCEA3 6920 broad.mit.edu 37 1 23713895 23713895 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:23713895T>A ENST00000450454.2 - 9 943 c.837A>T c.(835-837)gaA>gaT p.E279D NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 279 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding p.E279D(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) ACTCCCTCAGTTCATCACTGG 0.557000 5 7 0 0 0.184627 0 0 PYHIN1 149628 broad.mit.edu 37 1 158913661 158913661 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:158913661C>G ENST00000368140.1 + 6 1329 c.1084C>G c.(1084-1086)Cac>Gac p.H362D PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.H353D|PYHIN1_ENST00000368138.3_Missense_Mutation_p.H353D|PYHIN1_ENST00000392254.2_Missense_Mutation_p.H362D NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 362 HIN-200. cell cycle nuclear speck p.H362D(1) breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AGGAGAATGCCACAATATCCC 0.353000 36 28 0 0 0.235728 0 0 AFTPH 54812 broad.mit.edu 37 2 64794785 64794785 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:64794785G>A ENST00000422803.1 + 3 2339 c.2025G>A c.(2023-2025)ctG>ctA p.L675L AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409933.1_Silent_p.L675L|AFTPH_ENST00000238856.4_Silent_p.L675L|AFTPH_ENST00000409183.1_Silent_p.L306L|AFTPH_ENST00000238855.7_Silent_p.L675L Q6ULP2 AFTIN_HUMAN aftiphilin 675 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding p.L675L(2) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TTACTTCCCTGAAGCACTTGC 0.423000 76 107 0 0 0.139131 0 0 CLMN 79789 broad.mit.edu 37 14 95662857 95662857 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:95662857T>A ENST00000298912.4 - 10 2799 c.2686A>T c.(2686-2688)Agc>Tgc p.S896C NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 896 integral to membrane actin binding p.S896C(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) CTGTAGTCGCTACTGTCTTCT 0.403000 47 74 0 0 0.139131 0 0 KIAA1468 57614 broad.mit.edu 37 18 59919955 59919955 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:59919955G>A ENST00000256858.6 + 12 2040 c.1792G>A c.(1792-1794)Gaa>Aaa p.E598K KIAA1468_ENST00000398130.2_Missense_Mutation_p.E598K Q9P260 K1468_HUMAN KIAA1468 598 binding p.E598K(1) autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) AACACGTGTAGAAGCTGAACT 0.373000 4 58 0 0 0.184627 0 0 GMPPA 29926 broad.mit.edu 37 2 220368852 220368852 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:220368852C>G ENST00000358215.3 + 7 906 c.537C>G c.(535-537)atC>atG p.I179M GMPPA_ENST00000341142.3_Missense_Mutation_p.I179M|GMPPA_ENST00000373908.1_Missense_Mutation_p.I179M|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.I179M|GMPPA_ENST00000313597.5_Missense_Mutation_p.I179M NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 179 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity p.I109M(1)|p.I179M(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) GTGACATCATCAACTGCGGCA 0.517000 77 186 0 0 0.139131 0 0 PURG 29942 broad.mit.edu 37 8 30890181 30890181 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:30890181G>C ENST00000475541.1 - 1 1050 c.118C>G c.(118-120)Ccc>Gcc p.P40A PURG_ENST00000339382.2_Missense_Mutation_p.P40A NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 40 nucleus DNA binding p.P40A(2) endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) GCGTAGTGGGGGTAGTGGGAG 0.637000 5 11 0 0 0.217242 0 0 ATP8B5P 158381 broad.mit.edu 37 9 35450184 35450184 + RNA SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:35450184C>T ENST00000430846.1 + 0 3034 GTTTCATGTGCAGGAAGAAAG 0.393000 21 31 0 0 0.069288 0 0 PRR23A 729627 broad.mit.edu 37 3 138724871 138724871 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:138724871C>T ENST00000383163.2 - 1 239 c.240G>A c.(238-240)ctG>ctA p.L80L MRPS22_ENST00000495075.1_5'UTR NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 80 p.L80L(1) endometrium(3)|kidney(1)|lung(7) 11 GCGGGAGCTCCAGCACCAGGT 0.677000 10 21 0 0 0.069234 0 0 IGSF1 3547 broad.mit.edu 37 X 130419770 130419770 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:130419770G>T ENST00000370904.1 - 10 1233 c.323C>A c.(322-324)cCc>cAc p.P108H IGSF1_ENST00000361420.3_Missense_Mutation_p.P117H|IGSF1_ENST00000370910.1_Missense_Mutation_p.P108H|IGSF1_ENST00000370900.1_Missense_Mutation_p.P117H|IGSF1_ENST00000370903.3_Missense_Mutation_p.P117H|IGSF1_ENST00000370901.4_Missense_Mutation_p.P117H Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 117 Ig-like C2-type 1. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding p.P117H(2) 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 AACTTTACTGGGCTTTGACCA 0.483000 51 76 1.86277e-20 2.41693e-20 0.139131 1 0 C17orf80 55028 broad.mit.edu 37 17 71228443 71228443 + Translation_Start_Site SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:71228443C>A ENST00000255557.4 + 0 72 FAM104A_ENST00000581110.1_Start_Codon_SNP_p.M1I|FAM104A_ENST00000583024.1_Start_Codon_SNP_p.M1I|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000405159.3_Start_Codon_SNP_p.M1I|FAM104A_ENST00000403627.3_Start_Codon_SNP_p.M1I Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 integral to membrane p.M1I(1) kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) CGCGCCCCCCCATGTCGCTGC 0.721000 6 17 2.80697e-09 3.15567e-09 0.080935 1 0 ARHGAP31 57514 broad.mit.edu 37 3 119133386 119133386 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:119133386C>T ENST00000264245.4 + 12 3142 c.2610C>T c.(2608-2610)atC>atT p.I870I NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 870 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity p.I870I(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AGGTTGAGATCGTCTCACAAG 0.507000 42 123 0 0 0.104719 0 0 CXCL12 6387 broad.mit.edu 37 10 44874113 44874113 + Nonsense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:44874113G>A ENST00000374429.2 - 3 324 c.238C>T c.(238-240)Cag>Tag p.Q80* CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374426.2_Nonsense_Mutation_p.Q80*|CXCL12_ENST00000343575.6_Nonsense_Mutation_p.Q80*|CXCL12_ENST00000395794.2_Nonsense_Mutation_p.Q80*|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000395795.4_Nonsense_Mutation_p.Q80* NM_000609.5|NM_001277990.1 NP_000600.1|NP_001264919.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 80 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity p.Q80*(3) endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) AGGTACTCCTGAATCCACTTT 0.473000 23 122 0 0 0.091800 0 0 FASN 2194 broad.mit.edu 37 17 80039971 80039971 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:80039971C>T ENST00000306749.2 - 36 6295 c.6077G>A c.(6076-6078)cGt>cAt p.R2026H FASN_ENST00000579758.1_5'UTR NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 2026 Beta-ketoacyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding p.R2026H(1) central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CGCATTGCCACGCCCGCAGCT 0.632000 53 8 0 0 0.139131 0 0 FZD2 2535 broad.mit.edu 37 17 42635929 42635929 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:42635929G>T ENST00000315323.3 + 1 1005 c.873G>T c.(871-873)tcG>tcT p.S291S NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 291 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.S291S(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CCATGGTGTCGGTGGCCTACA 0.607000 33 46 8.16277e-20 1.05033e-19 0.246493 1 0 OR10A6 390093 broad.mit.edu 37 11 7949817 7949817 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:7949817G>A ENST00000309838.2 - 1 392 c.393C>T c.(391-393)aaC>aaT p.N131N NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N131N(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCATTTGGTAGTTGAGAGGAT 0.358000 43 53 0 0 0.124865 0 0 BRCA2 675 broad.mit.edu 37 13 32914679 32914679 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:32914679G>A ENST00000544455.1 + 11 6414 c.6187G>A c.(6187-6189)Gga>Aga p.G2063R BRCA2_ENST00000380152.3_Missense_Mutation_p.G2063R NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2063 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding p.G2063R(2) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TACAGCAAGTGGAAAGCAAGT 0.343000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 43 11 0 0 0.104719 0 0 RB1 5925 broad.mit.edu 37 13 49033954 49033954 + Missense_Mutation SNP C C G rs3092903 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:49033954C>G ENST00000267163.4 + 20 2229 c.2091C>G c.(2089-2091)gaC>gaG p.D697E NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 697 Domain B.|Pocket; binds T and E1A. D -> E (in dbSNP:rs3092903). androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11)|p.D697E(2) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCATGAGAGACAGGCATTTGG 0.413000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 31 13 0 0 0.193644 0 0 HOXD9 3235 broad.mit.edu 37 2 176987735 176987735 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:176987735C>A ENST00000249499.6 + 1 648 c.239C>A c.(238-240)tCc>tAc p.S80Y HOXD-AS2_ENST00000440016.2_RNA NM_014213.3 NP_055028.3 P28356 HXD9_HUMAN homeobox D9 80 nucleus sequence-specific DNA binding p.S70Y(1)|p.S80Y(1) endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GCCTCGTGGTCCGCGGTGCCC 0.751000 5 7 0.00198382 0.00203056 0.029380 1 0 KIF25 3834 broad.mit.edu 37 6 168431482 168431482 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:168431482C>T ENST00000443060.2 + 4 513 c.122C>T c.(121-123)gCg>gTg p.A41V KIF25_ENST00000354419.2_Missense_Mutation_p.A41V|KIF25_ENST00000351261.3_Missense_Mutation_p.A41V Q9UIL4 KIF25_HUMAN kinesin family member 25 41 Kinesin-motor. A -> T (in dbSNP:rs34049091). microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.A41V(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TCTCAGAGCGCGGTCTTTGGA 0.423000 68 92 0 0 0.139131 0 0 FAM47A 158724 broad.mit.edu 37 X 34148385 34148385 + Nonsense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:34148385G>A ENST00000346193.3 - 1 2062 c.2011C>T c.(2011-2013)Cag>Tag p.Q671* NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 671 p.Q671*(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TATTTTTCCTGTGAGAAGAAT 0.438000 114 15 0 0 0.139131 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3675341 3675341 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:3675341G>A ENST00000344754.4 - 11 2912 c.2913C>T c.(2911-2913)agC>agT p.S971S SIGLEC1_ENST00000202578.4_Silent_p.S971S NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 971 Ig-like C2-type 9. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.S971S(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GTGCAGCTAGGCTCGTGGTGG 0.602000 20 34 0 0 0.125774 0 0 ZNF623 9831 broad.mit.edu 37 8 144733168 144733168 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:144733168G>C ENST00000501748.2 + 1 1215 c.1126G>C c.(1126-1128)Gaa>Caa p.E376Q ZNF623_ENST00000526926.1_Missense_Mutation_p.E336Q|ZNF623_ENST00000458270.2_Missense_Mutation_p.E336Q NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E376Q(1) endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GAAACTCTATGAATGTAACGA 0.458000 8 84 0 0 0.047766 0 0 USH2A 7399 broad.mit.edu 37 1 216062335 216062335 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:216062335G>T ENST00000366943.2 - 41 8042 c.7656C>A c.(7654-7656)acC>acA p.T2552T USH2A_ENST00000307340.3_Silent_p.T2552T|RP5-1111A8.3_ENST00000414995.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2552 Fibronectin type-III 12. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.T2552K(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GATGCTGCCAGGTGACCAACA 0.408000 HNSCC(13;0.011) 52 115 1.4374e-25 1.95127e-25 0.139131 1 0 PSMB5 5693 broad.mit.edu 37 14 23504054 23504054 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:23504054C>A ENST00000361611.6 - 1 300 c.37G>T c.(37-39)Gtg>Ttg p.V13L PSMB5_ENST00000493471.2_Missense_Mutation_p.V13L|PSMB5_ENST00000460922.2_Missense_Mutation_p.V13L|PSMB5_ENST00000425762.2_Intron NM_002797.3 NP_002788.1 P28074 PSB5_HUMAN proteasome (prosome, macropain) subunit, beta type, 5 13 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus protein binding|threonine-type endopeptidase activity p.V13L(2) kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) CGCTGGTTCACCGGTAGCGGT 0.592000 29 24 2.08457e-15 2.57255e-15 0.153744 1 0 PCK2 5106 broad.mit.edu 37 14 24567693 24567693 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:24567693T>C ENST00000545054.2 + 4 986 c.68T>C c.(67-69)aTg>aCg p.M23T PCK2_ENST00000396973.4_Missense_Mutation_p.M157T|PCK2_ENST00000561286.1_Missense_Mutation_p.M23T|PCK2_ENST00000216780.4_Missense_Mutation_p.M157T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.M23T|PCK2_ENST00000559250.1_Missense_Mutation_p.M169T Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 157 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity p.M157T(2) breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) GGCCGCACCATGTATGTGCTT 0.597000 14 17 0 0 0.146539 0 0 PGBD4 161779 broad.mit.edu 37 15 34396295 34396295 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:34396295A>G ENST00000397766.2 + 1 2022 c.1563A>G c.(1561-1563)ggA>ggG p.G521G NM_152595.4 NP_689808.2 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 521 p.G521G(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) GTCTGTCTGGAAGACATTTCC 0.493000 38 4 0 0 0.131918 0 0 CSMD2 114784 broad.mit.edu 37 1 34112374 34112374 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:34112374G>T ENST00000373381.4 - 29 4824 c.4648C>A c.(4648-4650)Cct>Act p.P1550T CSMD2_ENST00000373380.1_Missense_Mutation_p.P423T|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1510 CUB 9. integral to membrane|plasma membrane protein binding p.P1510T(1) 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) CCTATGAGAGGGCTGAGAGAG 0.562000 13 15 1.01871e-10 1.17319e-10 0.204396 1 0 ROBO3 64221 broad.mit.edu 37 11 124740583 124740583 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:124740583G>T ENST00000397801.1 + 6 1184 c.992G>T c.(991-993)aGt>aTt p.S331I ROBO3_ENST00000538940.1_Missense_Mutation_p.S309I NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 331 Ig-like C2-type 3. axon midline choice point recognition integral to membrane receptor activity p.S331I(2) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GCGGAGAACAGTGTGGGCCGC 0.592000 11 11 1.61879e-10 1.8564e-10 0.093190 1 0 PLB1 151056 broad.mit.edu 37 2 28855839 28855839 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:28855839C>T ENST00000422425.2 + 55 4042 c.3998C>T c.(3997-3999)tCc>tTc p.S1333F PLB1_ENST00000541605.1_Missense_Mutation_p.S309F|PLB1_ENST00000327757.5_Missense_Mutation_p.S1344F NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1344 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity p.S1344F(1)|p.S1333F(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) ACCTTCTTCTCCGAGGACTGT 0.582000 36 61 0 0 0.124865 0 0 ABCA9 10350 broad.mit.edu 37 17 66979867 66979867 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:66979867C>A ENST00000340001.4 - 36 4834 c.4623G>T c.(4621-4623)caG>caT p.Q1541H ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1503H|ABCA9_ENST00000370732.2_3'UTR NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1541 transport integral to membrane ATP binding|ATPase activity p.Q1541H(1)|p.Q1541Q(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GCTGAGCAGCCTGGGGGAAAA 0.453000 30 154 5.8336e-16 7.22382e-16 0.183431 1 0 HMX2 3167 broad.mit.edu 37 10 124909497 124909497 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:124909497G>T ENST00000339992.3 + 2 937 c.680G>T c.(679-681)aGc>aTc p.S227I NM_005519.1 NP_005510.1 A2RU54 HMX2_HUMAN H6 family homeobox 2 227 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S227I(1) endometrium(1)|kidney(1)|lung(4)|prostate(1) 7 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) ACTCTGGTGAGCATGCCGCTG 0.672000 15 2 1.99824e-07 2.18979e-07 0.160694 1 0 TDRD10 126668 broad.mit.edu 37 1 154517340 154517340 + Silent SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:154517340C>G ENST00000368482.4 + 11 1705 c.867C>G c.(865-867)acC>acG p.T289T TDRD10_ENST00000368480.3_Silent_p.T289T|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 289 Tudor. nucleotide binding|RNA binding p.T289T(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AGTTGGCCACCATCCCTGTGC 0.542000 27 77 0 0 0.108266 0 0 LCT 3938 broad.mit.edu 37 2 136594643 136594643 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:136594643C>T ENST00000264162.2 - 1 107 c.97G>A c.(97-99)Ggt>Agt p.G33S NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 33 carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity p.G33S(1) breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GTTAGAGGACCAGCGGTGGAA 0.468000 30 40 0 0 0.134883 0 0 XKR7 343702 broad.mit.edu 37 20 30556135 30556135 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:30556135G>A ENST00000217299.3 + 1 331 c.157G>A c.(157-159)Gag>Aag p.E53K NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 53 integral to membrane p.E53K(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) gccgcgcTACGAGCTGCGGGA 0.776000 14 10 0 0 0.146539 0 0 MCOLN1 57192 broad.mit.edu 37 19 7589950 7589950 + Silent SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:7589950C>G ENST00000264079.6 + 2 260 c.135C>G c.(133-135)ctC>ctG p.L45L NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 45 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity p.L45L(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCCGTCGTCTCAAATACTTTT 0.622000 3 56 0 0 0.115264 0 0 CFHR4 10877 broad.mit.edu 37 1 196883639 196883639 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:196883639C>A ENST00000367416.2 + 8 1329 c.1192C>A c.(1192-1194)Cct>Act p.P398T CFHR4_ENST00000367418.1_Missense_Mutation_p.P152T|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.P152T NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 p.P152T(1)|p.P398T(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TTGTGATATGCCTGTTTTTGA 0.373000 41 44 1.57945e-13 1.89325e-13 0.124865 1 0 C8B 732 broad.mit.edu 37 1 57395200 57395200 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:57395200C>G ENST00000543257.1 - 13 2063 c.1497G>C c.(1495-1497)tgG>tgC p.W499C C8B_ENST00000371237.4_Missense_Mutation_p.W551C|C8B_ENST00000535057.1_Missense_Mutation_p.W489C NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 551 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.W551C(2) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 ACCAATTTGACCAGCAATTCC 0.463000 3 66 0 0 0.115264 0 0 THSD7A 221981 broad.mit.edu 37 7 11501698 11501698 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:11501698C>A ENST00000423059.3 - 10 2692 c.2441G>T c.(2440-2442)tGc>tTc p.C814F AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 814 TSP type-1 8. integral to membrane p.C814F(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) GGGATCTGTGCAGTCTCGGCC 0.537000 HNSCC(18;0.044) 54 82 1.48341e-19 1.90423e-19 0.139131 1 0 TTN 7273 broad.mit.edu 37 2 179422208 179422208 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179422208G>T ENST00000589042.1 - 329 88005 c.87781C>A c.(87781-87783)Cca>Aca p.P29261T TTN_ENST00000460472.2_Missense_Mutation_p.P20196T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27620T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P20321T|TTN_ENST00000342992.6_Missense_Mutation_p.P26693T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P20388T|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27620 Fibronectin type-III 113. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P26693K(1)|p.P26691K(1)|p.P20321K(1)|p.P20196K(1)|p.P20388K(1) 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) TTTGACACTGGTTCATGCCAG 0.453000 39 53 4.44401e-20 5.73183e-20 0.117977 1 0 CDH9 1007 broad.mit.edu 37 5 26885756 26885756 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:26885756C>G ENST00000231021.4 - 11 2021 c.1849G>C c.(1849-1851)Gtt>Ctt p.V617L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 617 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V617L(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGAATCGCAACGAGAGCTCCC 0.507000 13 16 0 0 0.105934 0 0 NLGN1 22871 broad.mit.edu 37 3 173997326 173997326 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:173997326T>C ENST00000457714.1 + 6 1964 c.1535T>C c.(1534-1536)gTa>gCa p.V512A NLGN1_ENST00000545397.1_Missense_Mutation_p.V512A|NLGN1_ENST00000401917.3_Missense_Mutation_p.V552A|NLGN1_ENST00000361589.4_Missense_Mutation_p.V512A NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 529 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.V512A(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GTTCCCTATGTACTGGGAATC 0.453000 49 78 0 0 0.139131 0 0 NMNAT2 23057 broad.mit.edu 37 1 183259340 183259340 + Splice_Site SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:183259340C>A ENST00000287713.6 - 4 578 c.242_splice c.e4-1 p.V82_splice NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Splice_Site_p.V77_splice NM_015039.3 NP_055854.1 Q9BZQ4 NMNA2_HUMAN nicotinamide nucleotide adenylyltransferase 2 82 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity p.V82L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 18 CAAGGGTCCACCCTAACATCA 0.512000 10 7 0.000442599 0.000457774 0.058154 1 0 PRDM9 56979 broad.mit.edu 37 5 23522995 23522995 + Splice_Site SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:23522995G>T ENST00000296682.3 + 8 1064 c.e8+1 NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.?(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CTCCTGGCTGGTAAGAAGAGC 0.493000 HNSCC(3;0.000094) 29 33 4.3181e-19 5.5235e-19 0.173368 1 0 PEAR1 375033 broad.mit.edu 37 1 156874598 156874598 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:156874598C>T ENST00000338302.3 + 4 385 c.160C>T c.(160-162)Ccc>Tcc p.P54S PEAR1_ENST00000292357.7_Missense_Mutation_p.P54S Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 54 EMI. integral to membrane p.P54S(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCCTCAGAGCCCTGCGAGCG 0.667000 49 111 0 0 0.139131 0 0 CENPF 1063 broad.mit.edu 37 1 214818275 214818275 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:214818275C>T ENST00000366955.3 + 13 5530 c.5362C>T c.(5362-5364)Cat>Tat p.H1788Y NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1884 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.H1788Y(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GAGATTACTTCATGTGATAGA 0.363000 13 65 0 0 0.105934 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709120 176709120 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:176709120C>T ENST00000367662.3 + 14 5103 c.3939C>T c.(3937-3939)acC>acT p.T1313T NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1313 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.T1313N(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTTCAGGAACCTATGGACTGT 0.388000 40 111 0 0 0.098360 0 0 UGT2B17 7367 broad.mit.edu 37 4 69417582 69417582 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:69417582A>T ENST00000317746.2 - 4 1095 c.1053T>A c.(1051-1053)aaT>aaA p.N351K NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 351 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.N351K(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 ACAGTCGAGTATTGGAACCTA 0.343000 17 5 0 0 0.204396 0 0 SNX14 57231 broad.mit.edu 37 6 86223826 86223826 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:86223826T>A ENST00000314673.3 - 25 2695 c.2519A>T c.(2518-2520)cAg>cTg p.Q840L SNX14_ENST00000513865.1_Missense_Mutation_p.Q559L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.Q788L|SNX14_ENST00000346348.3_Missense_Mutation_p.Q787L|SNX14_ENST00000369627.2_Missense_Mutation_p.Q831L NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 840 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity p.Q840L(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) ACGGTGCTCCTGAAATAGCTG 0.343000 31 46 0 0 0.203993 0 0 SCD5 79966 broad.mit.edu 37 4 83602054 83602054 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:83602054G>A ENST00000319540.4 - 3 694 c.375C>T c.(373-375)ttC>ttT p.F125F SCD5_ENST00000273908.4_Silent_p.F125F NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 125 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity p.F125F(4) endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) TGGACCACTCGAAGATGTCAT 0.607000 38 92 0 0 0.225048 0 0 RBM19 9904 broad.mit.edu 37 12 114384275 114384275 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:114384275C>A ENST00000545145.2 - 12 1491 c.1413G>T c.(1411-1413)agG>agT p.R471S RBM19_ENST00000392561.3_Missense_Mutation_p.R471S|RBM19_ENST00000261741.5_Missense_Mutation_p.R471S NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 471 RRM 3. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding p.R471S(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) CGTGGAGCATCCTGCCCTGGA 0.562000 24 40 5.61819e-17 7.05359e-17 0.108266 1 0 PRM2 5620 broad.mit.edu 37 16 11370155 11370155 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:11370155C>A ENST00000435245.2 - 1 182 c.73G>T c.(73-75)Gag>Tag p.E25* PRM2_ENST00000241808.4_Nonsense_Mutation_p.E25*|RMI2_ENST00000572173.1_Intron P04554 PRM2_HUMAN protamine 2 25 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding p.E25*(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2) 7 TGTCCTTGCTCTTGCCCATGC 0.622000 6 97 0.0215528 0.0217936 0.217242 1 0 KIAA1328 57536 broad.mit.edu 37 18 34753035 34753035 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:34753035C>A ENST00000591619.1 + 9 2288 c.1502C>A c.(1501-1503)aCc>aAc p.T501N KIAA1328_ENST00000586135.1_Missense_Mutation_p.T257N|KIAA1328_ENST00000435985.2_Missense_Mutation_p.T257N|KIAA1328_ENST00000543923.1_Missense_Mutation_p.T397N|KIAA1328_ENST00000280020.5_Missense_Mutation_p.T505N Q86T90 K1328_HUMAN KIAA1328 505 p.T505N(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) TTACAGCACACCACCTCCCGG 0.403000 42 64 2.00842e-17 2.5274e-17 0.117977 1 0 LTBP2 4053 broad.mit.edu 37 14 74969961 74969961 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:74969961A>T ENST00000261978.4 - 33 5235 c.4849T>A c.(4849-4851)Tgg>Agg p.W1617R LTBP2_ENST00000556690.1_Missense_Mutation_p.W1573R NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1617 TB 4. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding p.W1617R(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TGCTGGCTCCAGGCCTCGCCG 0.652000 30 43 0 0 0.173368 0 0 BRDT 676 broad.mit.edu 37 1 92459667 92459667 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:92459667T>A ENST00000370389.2 + 15 2848 c.1924T>A c.(1924-1926)Tct>Act p.S642T BRDT_ENST00000399546.2_Missense_Mutation_p.S715T|BRDT_ENST00000394530.3_Missense_Mutation_p.S669T|BRDT_ENST00000402388.1_Missense_Mutation_p.S715T|BRDT_ENST00000362005.3_Missense_Mutation_p.S715T NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 715 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity p.S715T(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AGACACAACCTCTGCCAATAC 0.343000 62 99 0 0 0.139131 0 0 ZNF761 388561 broad.mit.edu 37 19 53960363 53960363 + RNA SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:53960363G>C ENST00000454407.1 + 0 3055 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TTAGTAGGCAGTCAACACTTG 0.433000 11 5 0 0 0.093190 0 0 KCNA4 3739 broad.mit.edu 37 11 30034042 30034042 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:30034042G>T ENST00000328224.6 - 2 1417 c.184C>A c.(184-186)Cac>Aac p.H62N NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 62 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.H62N(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TGGTGGTGGTGGGAGCCCCCA 0.662000 24 29 3.69857e-22 4.90433e-22 0.134883 1 0 COL5A2 1290 broad.mit.edu 37 2 189929300 189929300 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:189929300C>A ENST00000374866.3 - 25 1973 c.1699G>T c.(1699-1701)Ggg>Tgg p.G567W NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 567 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent p.G567W(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCTGGAAGCCCAGGTTCCCCT 0.527000 16 40 2.48551e-13 2.97275e-13 0.160694 1 0 ATP11B 23200 broad.mit.edu 37 3 182575779 182575779 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:182575779A>G ENST00000323116.5 + 11 1225 c.965A>G c.(964-966)tAt>tGt p.Y322C NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 322 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.Y322C(1) breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) GAACCTTGGTATAACCAAAAA 0.323000 32 143 0 0 0.173368 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 58 0 0 0.150653 0 0 PRR11 55771 broad.mit.edu 37 17 57247240 57247240 + Splice_Site SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:57247240A>T ENST00000262293.4 + 2 439 c.128_splice c.e2+1 p.R43_splice NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 43 p.R43*(1) breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CTCACCAGAAAGGTAAGGCTT 0.388000 29 83 0 0 0.144211 0 0 DCAF5 8816 broad.mit.edu 37 14 69529104 69529104 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:69529104G>A ENST00000341516.5 - 8 1218 c.1071C>T c.(1069-1071)atC>atT p.I357I DCAF5_ENST00000553293.1_Intron|DCAF5_ENST00000557386.1_Silent_p.I356I|DCAF5_ENST00000554215.1_Silent_p.I275I|DCAF5_ENST00000556847.1_Silent_p.I275I NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 357 CUL4 RING ubiquitin ligase complex p.I357I(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 GCCTCACCTTGATAATCTTTT 0.383000 21 86 0 0 0.083992 0 0 LMBR1L 55716 broad.mit.edu 37 12 49495285 49495285 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:49495285G>C ENST00000267102.8 - 12 1320 c.978C>G c.(976-978)atC>atG p.I326M LMBR1L_ENST00000395141.4_Missense_Mutation_p.I321M|LMBR1L_ENST00000547382.1_Missense_Mutation_p.I326M NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 326 endocytosis integral to membrane|plasma membrane receptor activity p.I326M(1)|p.I321M(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CAGCCTCATCGATGAGCAGCT 0.612000 12 11 0 0 0.132662 0 0 DNAJC7 7266 broad.mit.edu 37 17 40142374 40142374 + Silent SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:40142374T>C ENST00000457167.4 - 6 743 c.507A>G c.(505-507)ctA>ctG p.L169L DNAJC7_ENST00000426588.3_Silent_p.L113L|DNAJC7_ENST00000316603.7_Silent_p.L113L NM_003315.3 NP_003306.3 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 169 chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding p.L159L(1)|p.L169L(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) GGGCAAATTCTAGGGCACGGT 0.463000 10 5 0 0 0.080935 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229828 140229828 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140229828G>T ENST00000378122.3 + 1 2472 c.1748G>T c.(1747-1749)cGg>cTg p.R583L PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R583L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron NM_014005.3 NP_054724.1 p.R583L(2)|p.R583K(2) breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGTGCTGCGGTCGGTGGGC 0.667000 31 59 1.32667e-27 1.83537e-27 0.139131 1 0 CNBD1 168975 broad.mit.edu 37 8 88296931 88296931 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:88296931C>G ENST00000518476.1 + 7 848 c.797C>G c.(796-798)aCt>aGt p.T266S CNBD1_ENST00000522427.1_3'UTR NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 266 p.T266S(2) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 ACCTTTGGGACTCTGGAAGTT 0.393000 13 7 0 0 0.119110 0 0 SLC39A2 29986 broad.mit.edu 37 14 21469627 21469627 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:21469627C>T ENST00000298681.4 + 4 976 c.819C>T c.(817-819)acC>acT p.T273T SLC39A2_ENST00000554422.1_3'UTR NM_014579.3 NP_055394.2 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), member 2 273 cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity p.T273T(1) breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) TGTATGTCACCTTCCTAGAAA 0.572000 50 90 0 0 0.139131 0 0 COL4A2 1284 broad.mit.edu 37 13 111009827 111009827 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:111009827G>A ENST00000360467.5 + 4 414 c.108G>A c.(106-108)aaG>aaA p.K36K NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 36 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding p.K36K(1) NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGGGTGTGAAGAAGTTTGATG 0.413000 5 35 0 0 0.029380 0 0 FAM71C 196472 broad.mit.edu 37 12 100042298 100042298 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:100042298G>C ENST00000324341.1 + 1 768 c.346G>C c.(346-348)Gaa>Caa p.E116Q ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 116 p.E116Q(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) AGAGATCTTAGAACTAACCAG 0.512000 9 101 0 0 0.069234 0 0 KCNAB3 9196 broad.mit.edu 37 17 7830686 7830686 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:7830686G>A ENST00000303790.2 - 4 379 c.380C>T c.(379-381)aCc>aTc p.T127I RP11-1099M24.7_ENST00000573621.1_3'UTR NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 127 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) CACTTCGGCGGTGTCAAACAG 0.498000 52 49 0 0 0.139131 0 0 ITPRIP 85450 broad.mit.edu 37 10 106075557 106075557 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:106075557C>A ENST00000278071.2 - 3 705 c.253G>T c.(253-255)Gcc>Tcc p.A85S ITPRIP_ENST00000358187.2_Missense_Mutation_p.A85S|ITPRIP_ENST00000337478.1_Missense_Mutation_p.A85S NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 85 plasma membrane p.A85S(1) breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 AGGTCCCAGGCCACGCGTGTC 0.677000 69 21 1.14856e-27 1.59506e-27 0.139131 1 0 CAMSAP1 157922 broad.mit.edu 37 9 138713293 138713293 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:138713293G>A ENST00000389532.4 - 11 3278 c.3214C>T c.(3214-3216)Cca>Tca p.P1072S CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1083S|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P794S|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1072 cytoplasm|microtubule p.P1072S(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) AAGTGGACTGGTGCCTTCACT 0.612000 36 46 0 0 0.225048 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635274 122635274 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:122635274C>G ENST00000249284.2 - 1 480 c.415G>C c.(415-417)Gta>Cta p.V139L NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 139 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding p.V139L(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ATGATTGTTACACAAGTAATC 0.403000 34 52 0 0 0.173368 0 0 DNAH5 1767 broad.mit.edu 37 5 13751251 13751251 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:13751251A>C ENST00000265104.4 - 65 11251 c.11147T>G c.(11146-11148)tTc>tGc p.F3716C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3716 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.F3716C(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGTGACAGTGAAGTCAATGAT 0.488000 Kartagener syndrome 40 61 0 0 0.098360 0 0 TP63 8626 broad.mit.edu 37 3 189349318 189349318 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:189349318C>T ENST00000264731.3 + 1 103 c.14C>T c.(13-15)aCt>aTt p.T5I TP63_ENST00000418709.2_Missense_Mutation_p.T5I|TP63_ENST00000440651.2_Missense_Mutation_p.T5I|TP63_ENST00000382063.4_Missense_Mutation_p.T5I|TP63_ENST00000320472.5_Missense_Mutation_p.T5I|TP63_ENST00000392460.3_Missense_Mutation_p.T5I NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 5 Transcription activation. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|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 p.T5I(1) 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) AATTTTGAAACTTCACGGTGT 0.373000 HNSCC(45;0.13) 42 370 0 0 0.117977 0 0 CLEC6A 93978 broad.mit.edu 37 12 8628815 8628815 + Missense_Mutation SNP C C A rs139024188 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:8628815C>A ENST00000382073.3 + 5 650 c.464C>A c.(463-465)aCa>aAa p.T155K NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 155 C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding p.T155K(1) breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) attgataagacaccttatgag 0.358000 23 35 7.38237e-10 8.36874e-10 0.116897 1 0 TRIM49 57093 broad.mit.edu 37 11 89537465 89537465 + Nonsense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:89537465G>T ENST00000329758.1 - 3 501 c.173C>A c.(172-174)tCa>tAa p.S58* TRIM49_ENST00000532501.2_Nonsense_Mutation_p.S58* NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 58 intracellular zinc ion binding p.S58Y(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CTGCTCGGTTGACTTTGTGCA 0.473000 43 102 4.07013e-28 5.68875e-28 0.104719 1 0 KRT8 3856 broad.mit.edu 37 12 53295812 53295812 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:53295812C>G ENST00000552551.1 - 3 801 c.369G>C c.(367-369)tgG>tgC p.W123C KRT8_ENST00000293308.6_Missense_Mutation_p.W123C|KRT8_ENST00000546897.1_Missense_Mutation_p.W123C|KRT8_ENST00000552150.1_Missense_Mutation_p.W151C P05787 K2C8_HUMAN keratin 8 123 Coil 1A.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity p.W123C(1) endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAGGAGGCTCCACTTGGTCT 0.547000 17 27 0 0 0.234183 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128347858 128347858 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:128347858C>A ENST00000265960.3 - 5 979 c.647G>T c.(646-648)aGc>aTc p.S216I MAPKAP1_ENST00000394060.3_Missense_Mutation_p.S216I|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.S24I|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.S216I|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.S216I|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.S24I|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.S216I|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.S24I NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 216 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding p.S216I(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 CCGTCCTTCGCTTGTATACTG 0.552000 48 59 1.83081e-24 2.45767e-24 0.139131 1 0 CRB1 23418 broad.mit.edu 37 1 197390239 197390239 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:197390239C>G ENST00000367400.3 + 6 1416 c.1281C>G c.(1279-1281)aaC>aaG p.N427K CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.N126K|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.N427K|CRB1_ENST00000367399.2_Missense_Mutation_p.N315K|CRB1_ENST00000535699.1_Missense_Mutation_p.N358K NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 427 EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.N427K(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CATTTGATAACCTTTCTAGAA 0.428000 102 82 0 0 0.139131 0 0 NLRP3 114548 broad.mit.edu 37 1 247597474 247597474 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:247597474G>T ENST00000366497.2 + 6 3177 c.2397G>T c.(2395-2397)aaG>aaT p.K799N NLRP3_ENST00000336119.3_Missense_Mutation_p.K799N|NLRP3_ENST00000348069.2_Missense_Mutation_p.K742N|NLRP3_ENST00000391827.2_Missense_Mutation_p.K742N|NLRP3_ENST00000366496.2_Missense_Mutation_p.K799N|NLRP3_ENST00000391828.3_Missense_Mutation_p.K799N NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 856 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.K799N(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCAACCAGAAGCTGGTGGAGC 0.552000 131 72 9.30381e-49 1.41314e-48 0.139131 1 0 ZNF488 118738 broad.mit.edu 37 10 48371464 48371464 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:48371464A>C ENST00000395702.2 + 2 1159 c.932A>C c.(931-933)aAg>aCg p.K311T ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.K204T Q96MN9 ZN488_HUMAN zinc finger protein 488 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K311T(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CATTCTCAGAAGCGGAGAGAA 0.597000 65 106 0 0 0.139131 0 0 ALPK2 115701 broad.mit.edu 37 18 56205026 56205026 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:56205026C>G ENST00000361673.3 - 5 2606 c.2393G>C c.(2392-2394)aGa>aCa p.R798T RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 798 ATP binding|protein serine/threonine kinase activity p.R164T(1)|p.R798T(1) 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 CACTGCTTCTCTGTCCCTTGG 0.498000 63 75 0 0 0.139131 0 0 C1orf173 127254 broad.mit.edu 37 1 75038802 75038802 + Silent SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:75038802T>C ENST00000326665.5 - 14 2810 c.2592A>G c.(2590-2592)gcA>gcG p.A864A C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 864 Glu-rich. p.A864A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CAGCATCTTTTGCTGCTGCTT 0.552000 104 134 0 0 0.139131 0 0 ADCY10 55811 broad.mit.edu 37 1 167780114 167780114 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:167780114G>T ENST00000367848.1 - 32 4740 c.4243C>A c.(4243-4245)Cct>Act p.P1415T ADCY10_ENST00000367851.4_Missense_Mutation_p.P1507T|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.P1354T Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1507 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding p.P1507T(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CAAAAGACAGGGCCAGTGGTA 0.443000 28 57 2.81731e-10 3.2105e-10 0.153744 1 0 INPP5J 27124 broad.mit.edu 37 22 31522647 31522647 + Silent SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:31522647C>G ENST00000331075.5 + 4 1483 c.1434C>G c.(1432-1434)ctC>ctG p.L478L INPP5J_ENST00000404390.3_Silent_p.L110L|INPP5J_ENST00000412277.2_Silent_p.L411L|INPP5J_ENST00000405300.1_Silent_p.L111L|INPP5J_ENST00000400294.2_Silent_p.L111L Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 478 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding p.L111L(1)|p.L478L(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 AGGACGCCCTCTTCACGGACC 0.617000 108 138 0 0 0.139131 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656956 40656956 + Silent SNP T T C rs149690605 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:40656956T>C ENST00000406785.1 - 2 654 c.465A>G c.(463-465)gaA>gaG p.E155E SLC8A1_ENST00000332839.4_Silent_p.E155E|SLC8A1_ENST00000405901.3_Silent_p.E155E|SLC8A1_ENST00000405269.1_Silent_p.E155E|SLC8A1_ENST00000542756.1_Silent_p.E155E|SLC8A1_ENST00000542024.1_Silent_p.E155E|SLC8A1_ENST00000408028.2_Silent_p.E155E|SLC8A1_ENST00000406391.2_Silent_p.E155E|SLC8A1_ENST00000403092.1_Silent_p.E155E|SLC8A1_ENST00000402441.1_Silent_p.E155E P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 155 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.E155E(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GGCCACACACTTCAATTACTG 0.463000 41 56 0 0 0.104719 0 0 FAM114A1 92689 broad.mit.edu 37 4 38907405 38907405 + Missense_Mutation SNP G G T rs139238894 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:38907405G>T ENST00000358869.2 + 6 756 c.580G>T c.(580-582)Gca>Tca p.A194S FAM114A1_ENST00000515037.1_5'UTR NM_138389.2 NP_612398.2 Q8IWE2 NXP20_HUMAN family with sequence similarity 114, member A1 194 cytoplasm p.A194S(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 TCAGGGCCCTGCAGAAAGCCC 0.488000 17 6 1.2644e-06 1.36646e-06 0.219247 1 0 OSBPL7 114881 broad.mit.edu 37 17 45891105 45891105 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:45891105G>C ENST00000007414.3 - 15 1638 c.1447C>G c.(1447-1449)Ctg>Gtg p.L483V OSBPL7_ENST00000392507.3_Missense_Mutation_p.L483V NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 483 lipid transport lipid binding p.L483V(1) autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 TTGTTGCGCAGAATGTTCCAC 0.657000 15 42 0 0 0.146539 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125660661 125660661 + Silent SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:125660661G>C ENST00000431078.1 + 22 4000 c.3636G>C c.(3634-3636)acG>acC p.T1212T NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1212 cell adhesion|signal transduction integral to membrane receptor binding p.T1212T(1) 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) CAGTGACCACGGTGCATTCTT 0.512000 2 3 0 0 0.115264 0 0 ATRN 8455 broad.mit.edu 37 20 3556573 3556573 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:3556573A>G ENST00000262919.5 + 13 2260 c.2192A>G c.(2191-2193)aAc>aGc p.N731S ATRN_ENST00000446916.2_Missense_Mutation_p.N731S NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 731 PSI 1. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding p.N731S(1) breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GTCCCCAGGAACCACAGCTGC 0.448000 25 39 0 0 0.124865 0 0 DOCK5 80005 broad.mit.edu 37 8 25222219 25222219 + Splice_Site SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:25222219A>T ENST00000276440.7 + 30 3166 c.3123_splice c.e30+1 p.Q1041_splice NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1041 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.Q1041L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TTTGAACTTCAGGTAGGCATG 0.418000 6 5 0 0 0.029380 0 0 ANPEP 290 broad.mit.edu 37 15 90328733 90328733 + Splice_Site SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:90328733C>G ENST00000300060.6 - 21 3065 c.e21-1 NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding p.?(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) ACTGCTCCAGCTGCCAGAAAA 0.567000 59 89 0 0 0.139131 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735206 55735206 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:55735206G>T ENST00000312345.2 - 1 784 c.734C>A c.(733-735)gCa>gAa p.A245E NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A245E(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) GATAGTACCTGCTCCAAAGAA 0.388000 19 14 2.4624e-09 2.77115e-09 0.204396 1 0 BRINP2 57795 broad.mit.edu 37 1 177249996 177249996 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:177249996G>T ENST00000361539.4 + 8 1996 c.1684G>T c.(1684-1686)Ggg>Tgg p.G562W FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 562 extracellular region p.G562W(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GTACAAGCCTGGGCTGGTGCA 0.567000 8 40 1.76689e-08 1.96201e-08 0.058154 1 0 PKD1L2 114780 broad.mit.edu 37 16 81232343 81232343 + Silent SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:81232343G>C ENST00000599697.1 - 7 1466 c.1467C>G c.(1465-1467)ctC>ctG p.L489L PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 489 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding p.L489L(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGGTTGCATTGAGTCCAGCCA 0.557000 38 38 0 0 0.225048 0 0 ROCK2 9475 broad.mit.edu 37 2 11484214 11484214 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:11484214C>A ENST00000315872.6 - 1 497 c.49G>T c.(49-51)Gcg>Tcg p.A17S ROCK2_ENST00000462366.1_Intron NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 17 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity p.A17S(2) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TCCCCCGGCGCGGTCTCGGGG 0.741000 13 7 7.93312e-07 8.60676e-07 0.119110 1 0 IGDCC4 57722 broad.mit.edu 37 15 65677328 65677328 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:65677328C>A ENST00000352385.2 - 19 3515 c.3306G>T c.(3304-3306)acG>acT p.T1102T IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1102 T -> A (in dbSNP:rs33918653). integral to membrane|plasma membrane p.T1102T(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GCAGCAACAGCGTCTGCCCAG 0.652000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 107 1.00246e-47 1.51838e-47 0.139131 1 0 RIMBP2 23504 broad.mit.edu 37 12 130912820 130912820 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:130912820G>A ENST00000261655.4 - 12 2428 c.2265C>T c.(2263-2265)gaC>gaT p.D755D NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 755 cell junction|synapse p.D755D(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CCTCCATGATGTCTGAGAGGT 0.612000 35 74 0 0 0.214465 0 0 ZNF761 388561 broad.mit.edu 37 19 53958024 53958024 + RNA SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:53958024A>T ENST00000454407.1 + 0 716 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q34L(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TTTTGCTACCAGGATGTTGAT 0.388000 22 15 0 0 0.234183 0 0 IGHG4 3503 broad.mit.edu 37 14 106092257 106092257 + RNA SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:106092257G>T ENST00000390543.2 - 0 146 AGGTGTGCACGCCGCTGGTCA 0.652000 21 76 2.70639e-06 2.89286e-06 0.069288 1 0 STAT3 6774 broad.mit.edu 37 17 40491337 40491337 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:40491337C>T ENST00000264657.5 - 5 775 c.463G>A c.(463-465)Gtg>Atg p.V155M STAT3_ENST00000588969.1_Missense_Mutation_p.V155M|STAT3_ENST00000389272.3_Missense_Mutation_p.V57M|STAT3_ENST00000585517.1_Missense_Mutation_p.V155M|STAT3_ENST00000404395.3_Missense_Mutation_p.V155M NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 155 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding p.V155M(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) ATCACCTGCACTCTCTTCCGG 0.542000 Hyperimmunoglobulin E Recurrent Infection Syndrome 28 90 0 0 0.163468 0 0 ATAD2 29028 broad.mit.edu 37 8 124381404 124381404 + Nonsense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:124381404G>A ENST00000287394.5 - 8 1050 c.943C>T c.(943-945)Cag>Tag p.Q315* ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity p.Q315*(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GGCTTTCTCTGGTGACGAGGT 0.328000 7 48 0 0 0.038147 0 0 KIF4B 285643 broad.mit.edu 37 5 154395250 154395250 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:154395250G>T ENST00000435029.4 + 1 1991 c.1831G>T c.(1831-1833)Gat>Tat p.D611Y NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 611 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.D611Y(2) 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) TCAAATAGCTGATCTGAAGAA 0.453000 57 57 1.1794e-34 1.7055e-34 0.139131 1 0 PICK1 9463 broad.mit.edu 37 22 38470903 38470903 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:38470903G>C ENST00000404072.3 + 13 1359 c.1012G>C c.(1012-1014)Gtg>Ctg p.V338L PICK1_ENST00000356976.3_Missense_Mutation_p.V338L NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 338 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding p.V338L(1) cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) GCAGCGCCTCGTGTCCACCAT 0.632000 18 45 0 0 0.219247 0 0 PAPOLG 64895 broad.mit.edu 37 2 60987327 60987327 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:60987327A>T ENST00000238714.3 + 2 325 c.76A>T c.(76-78)Agt>Tgt p.S26C NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 26 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding p.S26C(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) CTCCCCAATTAGTTTGGCATC 0.348000 42 42 0 0 0.131918 0 0 HERC6 55008 broad.mit.edu 37 4 89338598 89338598 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:89338598A>C ENST00000380265.5 + 13 1763 c.1580A>C c.(1579-1581)cAa>cCa p.Q527P HERC6_ENST00000264346.7_Missense_Mutation_p.Q527P NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 527 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity p.Q527P(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GCATTTTTGCAAGAATCTTCT 0.408000 6 12 0 0 0.047766 0 0 CLASP2 23122 broad.mit.edu 37 3 33614712 33614712 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:33614712C>A ENST00000399362.4 - 26 2966 c.2613G>T c.(2611-2613)caG>caT p.Q871H CLASP2_ENST00000359576.5_Missense_Mutation_p.Q863H|CLASP2_ENST00000480013.1_Missense_Mutation_p.Q651H|CLASP2_ENST00000307312.7_Missense_Mutation_p.Q352H|CLASP2_ENST00000468888.2_Missense_Mutation_p.Q872H|CLASP2_ENST00000539981.1_Missense_Mutation_p.Q641H|CLASP2_ENST00000461133.3_Missense_Mutation_p.Q630H NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 872 p.Q863H(1) breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 CATCTTCCGTCTGCCTCATAT 0.428000 86 39 4.04957e-52 6.21163e-52 0.139131 1 0 FCER1A 2205 broad.mit.edu 37 1 159277563 159277563 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:159277563A>G ENST00000368115.1 + 6 714 c.615A>G c.(613-615)caA>caG p.Q205Q FCER1A_ENST00000368114.1_Silent_p.Q172Q NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 205 integral to plasma membrane p.Q205Q(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) ACTGGCTACAATTTTTTATCC 0.403000 6 137 0 0 0.069234 0 0 ZNF595 152687 broad.mit.edu 37 4 59969 59969 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:59969C>A ENST00000509152.2 + 3 334 c.149C>A c.(148-150)cCa>cAa p.P50Q ZNF595_ENST00000526473.2_Missense_Mutation_p.P50Q|ZNF595_ENST00000339368.6_3'UTR zinc finger protein 595 p.P50Q(1) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ATCTCTAACCCAGACCTGGTC 0.398000 11 98 1.58986e-06 1.71119e-06 0.069234 1 0 LEFTY2 7044 broad.mit.edu 37 1 226128626 226128626 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:226128626C>T ENST00000366820.5 - 1 563 c.215G>A c.(214-216)cGc>cAc p.R72H LEFTY2_ENST00000420304.2_Missense_Mutation_p.R72H NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 72 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding p.R72H(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) TCCGCGGGAGCGGTCCCCGTG 0.687000 25 68 0 0 0.144211 0 0 MTMR7 9108 broad.mit.edu 37 8 17228696 17228696 + Nonsense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:17228696G>A ENST00000180173.5 - 3 194 c.160C>T c.(160-162)Cag>Tag p.Q54* MTMR7_ENST00000521857.1_Nonsense_Mutation_p.Q54* NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 54 protein tyrosine phosphatase activity p.Q54*(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) GTGGAAATCTGACTGTGAAGA 0.408000 44 69 0 0 0.139131 0 0 LINC00521 256369 broad.mit.edu 37 14 94464535 94464535 + RNA SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:94464535G>A ENST00000444118.1 + 0 215 NR_024182.1 p.G17M(1) TGACAAGGAAGGGGACCTTCA 0.617000 18 41 0 0 0.204396 0 0 C14orf166 51637 broad.mit.edu 37 14 52471094 52471094 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:52471094G>A ENST00000261700.3 + 8 760 c.595G>A c.(595-597)Gaa>Aaa p.E199K C14orf166_ENST00000556760.1_Missense_Mutation_p.M183I NM_016039.2 NP_057123.1 Q9Y224 CN166_HUMAN chromosome 14 open reading frame 166 199 microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex identical protein binding p.E199K(1) endometrium(1)|large_intestine(3)|lung(2) 6 Breast(41;0.0639)|all_epithelial(31;0.101) AGTTCTTAATGAAGCTGCTCA 0.373000 11 44 0 0 0.093190 0 0 C3P1 388503 broad.mit.edu 37 19 10169335 10169335 + RNA SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:10169335T>A ENST00000495140.1 + 0 1885 p.?(1) endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 AGACAGAAGGTAGGACCCCAG 0.567000 31 32 0 0 0.173368 0 0 CXorf67 340602 broad.mit.edu 37 X 51150737 51150737 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:51150737G>T ENST00000342995.2 + 1 971 c.869G>T c.(868-870)cGc>cTc p.R290L chromosome X open reading frame 67 p.R290L(1) breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 GGCCCTGCCCGCCGAGGCCGC 0.736000 7 0 0.00136819 0.0014044 0.093190 1 0 SPIDR 23514 broad.mit.edu 37 8 48647874 48647874 + Nonsense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:48647874C>G ENST00000297423.4 + 20 2994 c.2610C>G c.(2608-2610)taC>taG p.Y870* SPIDR_ENST00000518074.1_Missense_Mutation_p.R811G|SPIDR_ENST00000541342.1_Nonsense_Mutation_p.Y800*|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518060.1_Missense_Mutation_p.T94R|SPIDR_ENST00000517693.1_Nonsense_Mutation_p.Y345* NM_001080394.2 NP_001073863.1 scaffolding protein involved in DNA repair p.Y870*(1) TGCAGAGCTACGAAGTGAAGA 0.517000 104 139 0 0 0.139131 0 0 NR1H4 9971 broad.mit.edu 37 12 100926249 100926249 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:100926249A>T ENST00000548884.1 + 5 1000 c.459A>T c.(457-459)agA>agT p.R153S NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000392986.3_Missense_Mutation_p.R153S|NR1H4_ENST00000188403.7_Missense_Mutation_p.R163S|NR1H4_ENST00000551379.1_Missense_Mutation_p.R163S NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 163 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.R163S(1)|p.R153S(1) NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 TCTTCAGGAGAAGCATTACCA 0.423000 37 56 0 0 0.246493 0 0 SLC35F3 148641 broad.mit.edu 37 1 234041292 234041292 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:234041292C>T ENST00000366618.3 + 2 216 c.71C>T c.(70-72)cCg>cTg p.P24L NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 0 transport integral to membrane p.P24L(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) AGGAGGTCACCGGACGTCAGC 0.642000 31 18 0 0 0.183431 0 0 TRAJ25 28730 broad.mit.edu 37 14 22987821 22987821 + RNA SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:22987821G>A ENST00000390512.2 + 0 32 TTATCTTTGGGAAGGGGACAA 0.438000 10 16 0 0 0.093190 0 0 PLCG1 5335 broad.mit.edu 37 20 39794392 39794392 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:39794392G>T ENST00000373272.2 + 16 2130 c.1725G>T c.(1723-1725)gaG>gaT p.E575D PLCG1_ENST00000244007.3_Missense_Mutation_p.E575D|PLCG1_ENST00000373271.1_Missense_Mutation_p.E575D NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 575 SH2 1. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity p.E575D(1) breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) ACTGCATCGAGACCGGAGCCC 0.587000 49 59 6.81593e-30 9.60065e-30 0.139131 1 0 PLOD2 5352 broad.mit.edu 37 3 145790448 145790448 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:145790448C>G ENST00000282903.5 - 17 1925 c.1748G>C c.(1747-1749)tGt>tCt p.C583S PLOD2_ENST00000360060.3_Missense_Mutation_p.C562S|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.C243S|PLOD2_ENST00000494950.1_Missense_Mutation_p.C528S NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 562 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding p.C583S(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) GACATCTGGACAGGGCTATAA 0.328000 13 46 0 0 0.105934 0 0 KRTAP6-3 337968 broad.mit.edu 37 21 31964886 31964886 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr21:31964886G>C ENST00000391624.1 + 1 128 c.101G>C c.(100-102)tGc>tCc p.C34S NM_181605.3 NP_853636.3 keratin associated protein 6-3 p.C34S(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7) 10 ggctatgggtgctgtggctac 0.597000 23 32 0 0 0.116897 0 0 NETO1 81832 broad.mit.edu 37 18 70417719 70417719 + Silent SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:70417719G>C ENST00000327305.6 - 9 1776 c.1119C>G c.(1117-1119)gtC>gtG p.V373V NETO1_ENST00000583169.1_Silent_p.V373V|NETO1_ENST00000299430.2_Silent_p.V372V NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 373 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity p.V373V(1) NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ATTTCCTTTGGACATACTTTT 0.453000 11 52 0 0 0.080935 0 0 MYH13 8735 broad.mit.edu 37 17 10243657 10243657 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:10243657C>A ENST00000418404.3 - 16 2119 c.1956G>T c.(1954-1956)tcG>tcT p.S652S RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Silent_p.S652S|MYH13_ENST00000252172.4_Silent_p.S652S Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 652 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.S652S(2) 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 TGAACACGGCCGACACGGTCT 0.512000 15 12 3.45872e-05 3.62215e-05 0.146539 1 0 FAM135B 51059 broad.mit.edu 37 8 139164452 139164452 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:139164452C>G ENST00000395297.1 - 13 2436 c.2266G>C c.(2266-2268)Gag>Cag p.E756Q NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 756 p.E756Q(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCATCCTCCTCAAAAGGTAAA 0.532000 HNSCC(54;0.14) 26 32 0 0 0.125774 0 0 APC 324 broad.mit.edu 37 5 112175225 112175225 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:112175225G>C ENST00000457016.1 + 16 4314 c.3934G>C c.(3934-3936)Gga>Cga p.G1312R APC_ENST00000508376.2_Missense_Mutation_p.G1312R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.G1312R P25054 APC_HUMAN adenomatous polyposis coli 1312 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. G -> E (in gastric cancer). canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.G1312*(25)|p.G1312R(1)|p.K1192fs*3(1)|p.?(1)|p.G1312fs*1(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGAAAAGATTGGAACTAGGTC 0.428000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 19 5 0 0 0.076483 0 0 TTN 7273 broad.mit.edu 37 2 179427123 179427123 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179427123G>T ENST00000589042.1 - 326 83960 c.83736C>A c.(83734-83736)acC>acA p.T27912T TTN_ENST00000460472.2_Silent_p.T18847T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T26271T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.T18972T|TTN_ENST00000342992.6_Silent_p.T25344T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T19039T|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26271 Fibronectin type-III 103. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T25344T(1)|p.T25342T(1)|p.T18847T(1)|p.T18972T(1)|p.T19039T(1) 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) CTTGTGTGCAGGTGCTCCACT 0.433000 46 71 3.54909e-21 4.63259e-21 0.124865 1 0 CENPF 1063 broad.mit.edu 37 1 214819658 214819658 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:214819658C>A ENST00000366955.3 + 13 6913 c.6745C>A c.(6745-6747)Cag>Aag p.Q2249K NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2345 2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.Q2249K(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AGCAGAGATACAGATCAAAGA 0.373000 32 147 8.4185e-14 1.01471e-13 0.163468 1 0 FUT9 10690 broad.mit.edu 37 6 96651667 96651667 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:96651667C>A ENST00000302103.5 + 3 962 c.636C>A c.(634-636)agC>agA p.S212R NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 212 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity p.S212R(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) TAAGCAAAAGCATTGAAATCC 0.373000 10 13 0.00829132 0.00844688 0.069234 1 0 ZNF268 10795 broad.mit.edu 37 12 133779191 133779191 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:133779191A>T ENST00000536435.2 + 6 1249 c.919A>T c.(919-921)Aat>Tat p.N307Y ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.N146Y|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.N307Y NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 307 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N307Y(1) NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CTATGGTTGTAATGAATGTGG 0.413000 4 4 0 0 0.217242 0 0 TMEM52B 120939 broad.mit.edu 37 12 10339082 10339082 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:10339082C>T ENST00000298530.3 + 3 719 c.141C>T c.(139-141)tgC>tgT p.C47C TMEM52B_ENST00000536952.1_Silent_p.C67C|TMEM52B_ENST00000381923.2_Silent_p.C67C NM_153022.2 NP_694567.1 transmembrane protein 52B p.C47C(1) GCTTCCGCTGCTGCTGTCTGA 0.597000 7 45 0 0 0.047766 0 0 PLCB1 23236 broad.mit.edu 37 20 8698346 8698346 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:8698346C>T ENST00000378641.3 + 14 1839 c.1364C>T c.(1363-1365)cCt>cTt p.P455L PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.P455L|PLCB1_ENST00000338037.6_Missense_Mutation_p.P455L NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 455 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|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 acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity p.P455L(2) 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 CTTCCAAGCCCTATGGATTTA 0.408000 55 106 0 0 0.139131 0 0 MYO7B 4648 broad.mit.edu 37 2 128381781 128381781 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:128381781C>T ENST00000389524.4 + 29 3908 c.3855C>T c.(3853-3855)ttC>ttT p.F1285F MYO7B_ENST00000409816.2_Silent_p.F1285F|MYO7B_ENST00000409090.1_Silent_p.F138F|MYO7B_ENST00000428314.1_Silent_p.F1285F Q6PIF6 MYO7B_HUMAN myosin VIIB 1285 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity p.F1285F(2) breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCATCTACTTCCGGAAGGAAT 0.642000 6 6 0 0 0.217242 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719051 140719051 + Silent SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140719051A>T ENST00000394576.2 + 1 513 c.513A>T c.(511-513)gcA>gcT p.A171A PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.A171A(2) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAGTACGCACTCAACCCAA 0.537000 47 83 0 0 0.139131 0 0 HIP1R 9026 broad.mit.edu 37 12 123341206 123341206 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:123341206A>G ENST00000253083.4 + 17 1678 c.1553A>G c.(1552-1554)aAg>aGg p.K518R NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 518 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding p.K518R(1) breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) GAGAAGCTCAAGAGGGAGCTG 0.662000 5 7 0 0 0.184627 0 0 AMMECR1L 83607 broad.mit.edu 37 2 128628438 128628438 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:128628438C>G ENST00000272647.5 - 5 843 c.583G>C c.(583-585)Gtc>Ctc p.V195L AMMECR1L_ENST00000393001.1_Missense_Mutation_p.V195L NM_001199140.1 NP_001186069.1 Q6DCA0 AMERL_HUMAN AMMECR1-like 195 AMMECR1. p.V195L(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 9 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) AGGAGGGAGACAGAGCAGAAA 0.522000 16 26 0 0 0.189662 0 0 MEP1A 4224 broad.mit.edu 37 6 46806815 46806815 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:46806815G>C ENST00000230588.4 + 14 2192 c.2183G>C c.(2182-2184)gGc>gCc p.G728A NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 728 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding p.G728A(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GGCACGGCTGGCGTGATCTTC 0.602000 6 183 0 0 0.029380 0 0 DEFA4 1669 broad.mit.edu 37 8 6794318 6794318 + Missense_Mutation SNP C C A rs149266478 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:6794318C>A ENST00000297435.2 - 2 228 c.104G>T c.(103-105)cGt>cTt p.R35L NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 35 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space p.R35L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TTCTGGCCCACGCTGCTCCTG 0.552000 47 63 1.15181e-12 1.36706e-12 0.139131 1 0 TMC1 117531 broad.mit.edu 37 9 75420388 75420388 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:75420388T>C ENST00000297784.5 + 18 2197 c.1657T>C c.(1657-1659)Tgc>Cgc p.C553R TMC1_ENST00000396237.3_Missense_Mutation_p.C553R|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.C553R NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 553 sensory perception of sound integral to membrane p.C553R(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TGTGAGGTTTTGCAATTATTG 0.348000 133 192 0 0 0.139131 0 0 ZNF274 10782 broad.mit.edu 37 19 58718164 58718164 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:58718164G>A ENST00000326804.4 + 5 793 c.334G>A c.(334-336)Gag>Aag p.E112K ZNF274_ENST00000424679.2_Missense_Mutation_p.E7K|ZNF274_ENST00000345813.3_Missense_Mutation_p.E80K|ZNF274_ENST00000597818.1_3'UTR NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 112 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.E80K(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) TGAGGTTGTTGAGGTCCTCAC 0.532000 10 13 0 0 0.058154 0 0 UNC80 285175 broad.mit.edu 37 2 210642194 210642194 + Nonsense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:210642194G>T ENST00000439458.1 + 4 591 c.511G>T c.(511-513)Gag>Tag p.E171* UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Nonsense_Mutation_p.E171* NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 171 integral to membrane p.E171*(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 TGACGAAGAAGAGAACAACCG 0.512000 68 81 2.36135e-34 3.40562e-34 0.139131 1 0 CA5A 763 broad.mit.edu 37 16 87935551 87935551 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:87935551C>A ENST00000309893.2 - 5 650 c.585G>T c.(583-585)agG>agT p.R195S NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 195 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding p.R195S(1) large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) TGTCCACCAGCCTCTGCAGCG 0.557000 129 150 3.57201e-63 5.58159e-63 0.139131 1 0 ZNF831 128611 broad.mit.edu 37 20 57768837 57768837 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:57768837C>T ENST00000371030.2 + 1 2763 c.2763C>T c.(2761-2763)acC>acT p.T921T NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 921 intracellular nucleic acid binding|zinc ion binding p.T921T(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CGCTGGCCACCCCACCTCAGG 0.632000 35 64 0 0 0.117977 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607206 84607206 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:84607206T>A ENST00000344803.2 + 4 1868 c.1821T>A c.(1819-1821)caT>caA p.H607Q NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 p.H607Q(2) TGTGTTTTCATAGACCCCAGA 0.488000 55 72 0 0 0.139131 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110454334 110454334 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:110454334G>C ENST00000260283.4 - 14 1827 c.1543C>G c.(1543-1545)Cca>Gca p.P515A ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P492A|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P479A|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P489A|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.P58A|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P479A|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P489A NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 515 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.P515A(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) AGAATACTTGGAGCGACACAC 0.403000 5 32 0 0 0.217242 0 0 ANGPT2 285 broad.mit.edu 37 8 6389855 6389855 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:6389855G>T ENST00000325203.5 - 2 916 c.442C>A c.(442-444)Caa>Aaa p.Q148K MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Missense_Mutation_p.Q148K|ANGPT2_ENST00000415216.1_Missense_Mutation_p.Q148K|ANGPT2_ENST00000338312.6_Intron O15123 ANGP2_HUMAN angiopoietin 2 148 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding p.Q148K(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) TTACTTACTTGGGCTTCCACA 0.483000 59 105 5.5144e-22 7.2766e-22 0.139131 1 0 AMPH 273 broad.mit.edu 37 7 38424511 38424511 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:38424511C>A ENST00000356264.2 - 21 2211 c.1996G>T c.(1996-1998)Gtg>Ttg p.V666L AMPH_ENST00000325590.5_Missense_Mutation_p.V624L|AMPH_ENST00000428293.2_Missense_Mutation_p.V624L NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 666 SH3. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane p.V666L(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TTCACTCCCACCAGCCAGCCT 0.453000 30 40 7.63091e-17 9.53644e-17 0.098360 1 0 LHX8 431707 broad.mit.edu 37 1 75626524 75626524 + Nonsense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:75626524G>T ENST00000294638.5 + 10 1679 c.1015G>T c.(1015-1017)Gga>Tga p.G339* LHX8_ENST00000356261.3_Nonsense_Mutation_p.G329* NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 339 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G339*(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 AACAACTCTTGGACTCCAGCC 0.343000 48 62 1.63038e-21 2.14098e-21 0.139131 1 0 DLK1 8788 broad.mit.edu 37 14 101200812 101200812 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:101200812G>T ENST00000341267.4 + 5 973 c.731G>T c.(730-732)tGt>tTt p.C244F DLK1_ENST00000331224.6_Intron NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 244 EGF-like 6. multicellular organismal development extracellular space|integral to membrane|soluble fraction p.C244F(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) GGTCTCACCTGTGTCAAGAAG 0.677000 39 41 1.5731e-28 2.20437e-28 0.124865 1 0 OR2T11 127077 broad.mit.edu 37 1 248790328 248790328 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:248790328C>A ENST00000330803.2 - 1 163 c.102G>T c.(100-102)ggG>ggT p.G34G NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G34G(1) breast(1)|large_intestine(5)|lung(20)|skin(2) 28 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) CAGTCACGGCCCCCAAGAAAA 0.507000 85 9 1.52223e-32 2.18381e-32 0.139131 1 0 AGAP1 116987 broad.mit.edu 37 2 236957706 236957706 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:236957706C>T ENST00000409538.1 + 15 3027 c.2531C>T c.(2530-2532)cCc>cTc p.P844L AGAP1_ENST00000304032.7_Missense_Mutation_p.P632L|AGAP1_ENST00000428334.2_Missense_Mutation_p.P471L|AGAP1_ENST00000336665.5_Missense_Mutation_p.P579L Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 632 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding p.P632L(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CCCGTAGATCCCAACTGGGCC 0.512000 43 55 0 0 0.117977 0 0 STAG3 10734 broad.mit.edu 37 7 99802356 99802356 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:99802356C>A ENST00000426455.1 + 27 3316 c.2909C>A c.(2908-2910)cCc>cAc p.P970H GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Missense_Mutation_p.P912H|STAG3_ENST00000317296.5_Missense_Mutation_p.P970H|STAG3_ENST00000440830.1_3'UTR Q9UJ98 STAG3_HUMAN stromal antigen 3 970 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding p.P970H(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGTTTTGGACCCCAGCAGCTG 0.582000 15 27 1.5739e-10 1.80682e-10 0.146539 1 0 ACOX3 8310 broad.mit.edu 37 4 8390969 8390969 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:8390969C>A ENST00000356406.5 - 13 1545 c.1468G>T c.(1468-1470)Gac>Tac p.D490Y ACOX3_ENST00000503233.1_Missense_Mutation_p.D490Y|ACOX3_ENST00000413009.2_Missense_Mutation_p.D490Y NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 490 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity p.D490Y(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 GGATAGGCGTCCAGAAAGTCC 0.552000 9 3 5.16669e-11 6.00752e-11 0.080935 1 0 OR2T6 254879 broad.mit.edu 37 1 248551769 248551769 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:248551769C>A ENST00000355728.2 + 1 860 c.860C>A c.(859-861)cCt>cAt p.P287H NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P287H(1) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 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) TTATTAAACCCTCTCATCTAC 0.458000 41 77 4.01765e-15 4.93014e-15 0.111260 1 0 CCDC88C 440193 broad.mit.edu 37 14 91779509 91779509 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:91779509C>T ENST00000389857.6 - 15 2737 c.2651G>A c.(2650-2652)gGc>gAc p.G884D NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 884 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association p.G884D(2) central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CTTCAGCTTGCCGGCTGCGTC 0.602000 4 119 0 0 0.150653 0 0 URI1 8725 broad.mit.edu 37 19 30502071 30502071 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:30502071G>A ENST00000392271.1 + 9 1403 c.878G>A c.(877-879)cGa>cAa p.R293Q URI1_ENST00000542441.2_Missense_Mutation_p.R369Q|URI1_ENST00000360605.4_Missense_Mutation_p.R351Q|URI1_ENST00000312051.6_Missense_Mutation_p.R329Q NM_003796.3 NP_003787.2 O94763 RMP_HUMAN URI1, prefoldin-like chaperone 369 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding p.R369Q(1) AAACGTAAACGAAAGAACAGC 0.468000 57 86 0 0 0.139131 0 0 CENPF 1063 broad.mit.edu 37 1 214815414 214815414 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:214815414C>T ENST00000366955.3 + 12 3901 c.3733C>T c.(3733-3735)Ctt>Ttt p.L1245F NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1321 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.L1245F(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TAGAGGAGATCTTGAAACCAG 0.388000 16 77 0 0 0.146539 0 0 MMD2 221938 broad.mit.edu 37 7 4950852 4950852 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:4950852A>G ENST00000404774.3 - 5 585 c.391T>C c.(391-393)Tgg>Cgg p.W131R MMD2_ENST00000401401.3_Missense_Mutation_p.W131R|MMD2_ENST00000406755.1_Missense_Mutation_p.W131R NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 131 integral to membrane receptor activity p.W131R(2) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) TGGGAGGCCCAGGGGCCCAGC 0.657000 4 6 0 0 0.029380 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377019 125377019 + Translation_Start_Site SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:125377019G>A ENST00000297913.2 + 1 72 c.3G>A c.(1-3)atG>atA p.M1I RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M1I(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 GGCAACAGATGGACAACAGCA 0.433000 47 68 0 0 0.139131 0 0 GPR97 222487 broad.mit.edu 37 16 57713163 57713163 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:57713163G>T ENST00000333493.4 + 5 728 c.567G>T c.(565-567)atG>atT p.M189I GPR97_ENST00000450388.3_Missense_Mutation_p.M69I|GPR97_ENST00000327655.6_5'UTR NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 189 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.M189I(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGGGACAAATGCATGTCACCA 0.647000 74 84 2.72187e-29 3.82399e-29 0.139131 1 0 TRPA1 8989 broad.mit.edu 37 8 72975803 72975803 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:72975803T>C ENST00000262209.4 - 5 763 c.556A>G c.(556-558)Aaa>Gaa p.K186E NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 186 K -> N (in dbSNP:rs7819749). integral to plasma membrane p.N186D(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) GCTCCTTTTTTAAGCTGGAAG 0.363000 25 25 0 0 0.091800 0 0 SYT10 341359 broad.mit.edu 37 12 33532835 33532835 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:33532835G>T ENST00000228567.3 - 6 1728 c.1432C>A c.(1432-1434)Cga>Aga p.R478R SYT10_ENST00000535526.1_Silent_p.R297R NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 478 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.R478R(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CAGTGGTCTCGCCCAAGACCC 0.458000 48 85 9.45407e-15 1.15102e-14 0.139131 1 0 ASXL3 80816 broad.mit.edu 37 18 31325273 31325273 + Nonsense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:31325273A>T ENST00000269197.5 + 12 5461 c.5461A>T c.(5461-5463)Aga>Tga p.R1821* NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1821 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.R1821*(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACTCCAAATGAGAAAGCGAGA 0.478000 93 136 0 0 0.139131 0 0 TTN 7273 broad.mit.edu 37 2 179604494 179604494 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179604494G>T ENST00000589042.1 - 48 13690 c.13466C>A c.(13465-13467)aCa>aAa p.T4489K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T4126K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T4172K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T4251K|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T4318K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4172 Ig-like 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T4251K(1) 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) ACCCTCAGCTGTTAGGATGTC 0.388000 115 167 2.09629e-50 3.19743e-50 0.139131 1 0 BRD4 23476 broad.mit.edu 37 19 15350202 15350202 + Splice_Site SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:15350202C>A ENST00000263377.2 - 17 3798 c.e17+1 NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding p.?(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TCCATCCCAACCTTTTTGGGC 0.627000 T C15orf55 lethal midline carcinoma of young people 41 81 9.52127e-25 1.28289e-24 0.139131 1 0 PHLDB1 23187 broad.mit.edu 37 11 118509945 118509945 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:118509945G>A ENST00000361417.2 + 13 3123 c.2712G>A c.(2710-2712)ccG>ccA p.P904P PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_5'UTR|PHLDB1_ENST00000356063.5_Silent_p.P904P NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 904 p.P904P(1) breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GGCCTTTCCCGAAGACCACAT 0.552000 40 47 0 0 0.104719 0 0 SPATA16 83893 broad.mit.edu 37 3 172835417 172835417 + Silent SNP C C G rs141312480 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:172835417C>G ENST00000351008.3 - 2 288 c.105G>C c.(103-105)gcG>gcC p.A35A NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 35 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding p.A35A(1) breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TAGGTGGGTGCGCTAAGGTGG 0.403000 139 612 0 0 0.139131 0 0 C1orf127 148345 broad.mit.edu 37 1 11008812 11008812 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:11008812C>A ENST00000377004.4 - 12 1379 c.1380G>T c.(1378-1380)caG>caT p.Q460H C1orf127_ENST00000377008.4_Missense_Mutation_p.Q293H NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 311 p.Q460H(1)|p.Q293H(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GGGGACCTCGCTGAGCTTGCA 0.627000 44 76 2.68985e-26 3.67444e-26 0.139131 1 0 CHST1 8534 broad.mit.edu 37 11 45672310 45672310 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:45672310T>C ENST00000308064.2 - 4 834 c.164A>G c.(163-165)tAc>tGc p.Y55C NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 55 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity p.Y55C(1) breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGAGAGGTTGTAGGCGAAGGT 0.657000 42 46 0 0 0.139131 0 0 INSC 387755 broad.mit.edu 37 11 15197587 15197587 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:15197587C>T ENST00000379554.3 + 3 544 c.498C>T c.(496-498)agC>agT p.S166S INSC_ENST00000379556.3_Silent_p.S119S|INSC_ENST00000530161.1_Silent_p.S119S|INSC_ENST00000528567.1_Silent_p.S119S|INSC_ENST00000424273.1_Silent_p.S119S|INSC_ENST00000525218.1_Silent_p.S119S NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 166 cell differentiation|nervous system development cytoplasm binding p.S166S(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 CCATGGTCAGCGAGTACAGTG 0.627000 7 3 0 0 0.069234 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390292 61390292 + RNA SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:61390292A>T ENST00000544088.1 + 0 900 SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity p.R78*(1)|p.R280*(1) breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CATGATGGAAAGAGAAGTTGA 0.423000 3 13 0 0 0.115264 0 0 C1orf168 199920 broad.mit.edu 37 1 57216826 57216826 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:57216826G>C ENST00000343433.6 - 9 1358 c.1278C>G c.(1276-1278)caC>caG p.H426Q C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 426 p.H426Q(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTCTACCTGTGTGGACGTTGG 0.493000 32 31 0 0 0.163468 0 0 RTL1 388015 broad.mit.edu 37 14 101349375 101349375 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:101349375G>T ENST00000534062.1 - 1 1809 c.1751C>A c.(1750-1752)tCc>tAc p.S584Y MIR127_ENST00000384876.1_RNA NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 584 p.S584Y(1) breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 AAGATCATCGGATCCGTCTGA 0.562000 20 28 2.27731e-05 2.40345e-05 0.234183 1 0 NDUFB4 4710 broad.mit.edu 37 3 120320114 120320114 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:120320114C>G ENST00000485064.1 + 2 369 c.337C>G c.(337-339)Cag>Gag p.Q113E NDUFB4_ENST00000492739.1_Intron|NDUFB4_ENST00000184266.2_Intron NM_001168331.1 NP_001161803.1 O95168 NDUB4_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa 0 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.Q113E(1)|p.?(1) breast(1)|large_intestine(1)|lung(3) 5 GBM - Glioblastoma multiforme(114;0.14) NADH(DB00157) GGTAAGTATTCAGACCAGATG 0.458000 67 181 0 0 0.139131 0 0 ZNF841 284371 broad.mit.edu 37 19 52568469 52568469 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:52568469C>T ENST00000389534.4 - 7 3125 c.2666G>A c.(2665-2667)cGc>cAc p.R889H ZNF841_ENST00000426391.2_Missense_Mutation_p.R773H|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.R889H|ZNF841_ENST00000359973.2_Missense_Mutation_p.R465H NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 773 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R889H(2)|p.R330H(1)|p.R465H(1) breast(1)|endometrium(4)|kidney(3)|lung(3) 11 GAGGCCTGAGCGACTAATGTA 0.428000 8 20 0 0 0.058154 0 0 TTC27 55622 broad.mit.edu 37 2 32897384 32897384 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:32897384G>C ENST00000317907.4 + 8 1216 c.985G>C c.(985-987)Gca>Cca p.A329P NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 329 protein binding p.A329P(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 CATAAAGTTAGCAGATTGTGA 0.358000 70 129 0 0 0.139131 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 538915 538915 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:538915G>T ENST00000262305.4 + 5 1568 c.1180G>T c.(1180-1182)Ggt>Tgt p.G394C RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.G394C|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.G98C NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) 394 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding p.G394C(1) breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) TGAGGACTACGGTGAAGGCAG 0.582000 19 41 7.45023e-12 8.76592e-12 0.219247 1 0 SLC26A9 115019 broad.mit.edu 37 1 205884139 205884139 + Silent SNP G G T rs147712135 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:205884139G>T ENST00000367134.2 - 22 2658 c.2545C>A c.(2545-2547)Cga>Aga p.R849R SLC26A9_ENST00000340781.4_Silent_p.R849R|SLC26A9_ENST00000367135.3_3'UTR NM_134325.2 NP_599152.2 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 0 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity p.R849R(1) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TGGCTCACTCGTAAAAGCTGG 0.562000 59 158 5.73332e-34 8.2578e-34 0.139131 1 0 FAM154B 283726 broad.mit.edu 37 15 82575200 82575200 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:82575200G>A ENST00000339465.5 + 3 1063 c.994G>A c.(994-996)Gag>Aag p.E332K FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.E317K NM_001008226.1 NP_001008227.1 Q658L1 F154B_HUMAN family with sequence similarity 154, member B 332 p.E332K(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2) 19 GATCCCAACAGAGAGTTGCAA 0.383000 14 52 0 0 0.160694 0 0 NEB 4703 broad.mit.edu 37 2 152423688 152423688 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:152423688C>T ENST00000397345.3 - 114 18352 c.18150G>A c.(18148-18150)caG>caA p.Q6050Q NEB_ENST00000427231.2_Silent_p.Q6050Q|NEB_ENST00000603639.1_Silent_p.Q6050Q|NEB_ENST00000172853.10_Silent_p.Q4349Q|NEB_ENST00000604864.1_Silent_p.Q6050Q|NEB_ENST00000409198.1_Silent_p.Q4349Q NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6044 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.Q4349Q(1)|p.Q6050Q(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTACATCACTCTGTAGGTCAT 0.398000 37 75 0 0 0.225048 0 0 PTCHD2 57540 broad.mit.edu 37 1 11577583 11577583 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:11577583G>T ENST00000294484.6 + 7 1951 c.1813G>T c.(1813-1815)Gtg>Ttg p.V605L PTCHD2_ENST00000389575.3_Missense_Mutation_p.V605L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 605 SSD. cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity p.V822L(1) NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CTGGCTGGCCGTGCTTGTCAC 0.612000 35 54 4.44401e-20 5.73183e-20 0.117977 1 0 PKHD1 5314 broad.mit.edu 37 6 51524215 51524215 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:51524215G>A ENST00000371117.3 - 61 10984 c.10709C>T c.(10708-10710)tCa>tTa p.S3570L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3570 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.S3570L(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TTCTAAGACTGAAACCATCAC 0.423000 8 45 0 0 0.047766 0 0 SNHG14 104472715 broad.mit.edu 37 15 25486832 25486832 + RNA SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:25486832G>C ENST00000453082.2 + 0 2151 NR_003343.1 TCTGCACTAAGCTGTGGTGAG 0.542000 51 17 0 0 0.139131 0 0 RNGTT 8732 broad.mit.edu 37 6 89324034 89324034 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:89324034C>T ENST00000369485.4 - 15 1773 c.1587G>A c.(1585-1587)caG>caA p.Q529Q RNGTT_ENST00000538899.1_Silent_p.Q446Q|RNGTT_ENST00000265607.6_Silent_p.Q506Q NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 529 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.Q529Q(1) endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) TGTCTGTTCTCTGTCTCATGA 0.348000 22 30 0 0 0.083992 0 0 LMOD2 442721 broad.mit.edu 37 7 123302795 123302795 + Silent SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:123302795T>A ENST00000458573.2 + 2 1312 c.1155T>A c.(1153-1155)ccT>ccA p.P385P LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 385 Pro-rich. cytoskeleton actin binding|tropomyosin binding p.P385P(1) GAGGAACACCTAGCTCTTCAC 0.507000 50 70 0 0 0.139131 0 0 CTSD 1509 broad.mit.edu 37 11 1774740 1774740 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:1774740C>T ENST00000236671.2 - 9 1364 c.1232G>A c.(1231-1233)cGc>cAc p.R411H RP11-295K3.1_ENST00000427721.1_Intron NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 411 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity p.R411H(1) endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAACTAGAGGCGGGCAGCCTC 0.662000 34 39 0 0 0.117977 0 0 KCNB2 9312 broad.mit.edu 37 8 73849879 73849879 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:73849879G>T ENST00000523207.1 + 3 2877 c.2289G>T c.(2287-2289)caG>caT p.Q763H NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 763 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.Q763H(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CCCCCTCCCAGGGAGACAGAC 0.582000 105 130 8.43681e-56 1.30891e-55 0.139131 1 0 OR5B21 219968 broad.mit.edu 37 11 58275014 58275014 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:58275014C>G ENST00000360374.2 - 1 564 c.565G>C c.(565-567)Gac>Cac p.D189H NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D189Y(1)|p.D189H(1) 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) ATGCGTGTGTCAGAGCATGAG 0.463000 11 37 0 0 0.069234 0 0 RNF43 54894 broad.mit.edu 37 17 56435120 56435120 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:56435120T>C ENST00000584437.1 - 8 3972 c.2017A>G c.(2017-2019)Act>Gct p.T673A RNF43_ENST00000500597.2_Missense_Mutation_p.T632A|RNF43_ENST00000577716.1_Missense_Mutation_p.T673A|RNF43_ENST00000407977.2_Missense_Mutation_p.T673A|RNF43_ENST00000581868.1_Missense_Mutation_p.T546A|RNF43_ENST00000583753.1_Missense_Mutation_p.T632A|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.T546A Q68DV7 RNF43_HUMAN ring finger protein 43 673 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.T673A(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGTGCACAGTTGCATCCTGG 0.607000 110 205 0 0 0.139131 0 0 ZNF236 7776 broad.mit.edu 37 18 74639891 74639891 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:74639891G>T ENST00000253159.8 + 25 4615 c.4417G>T c.(4417-4419)Gac>Tac p.D1473Y ZNF236_ENST00000320610.9_Missense_Mutation_p.D1475Y NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1473 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D1473Y(2) NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AGGGACCCAAGACCTCACTCA 0.423000 41 53 1.68508e-10 1.92632e-10 0.111260 1 0 ARHGAP5 394 broad.mit.edu 37 14 32562802 32562802 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:32562802A>G ENST00000345122.3 + 2 3242 c.2927A>G c.(2926-2928)aAt>aGt p.N976S ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.N976S|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.N976S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.N976S NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 976 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding p.N976S(1) NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTTCCCTATAATAACTACCCT 0.393000 32 62 0 0 0.173368 0 0 ADCY2 108 broad.mit.edu 37 5 7727279 7727279 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:7727279C>A ENST00000338316.4 + 14 1865 c.1776C>A c.(1774-1776)taC>taA p.Y592* ADCY2_ENST00000537121.1_Nonsense_Mutation_p.Y412*|RP11-711G10.1_ENST00000514105.2_RNA NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 592 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.Y592*(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 CCCCTCAGTACCGGGCCACGG 0.512000 21 40 1.9806e-07 2.17485e-07 0.069288 1 0 SEPT5 5413 broad.mit.edu 37 22 19707146 19707146 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:19707146G>T ENST00000438754.2 + 2 383 c.103G>T c.(103-105)Ggc>Tgc p.G35C SEPT5_ENST00000455784.2_Missense_Mutation_p.G26C|SEPT5_ENST00000383045.3_Missense_Mutation_p.G35C|SEPT5_ENST00000406395.1_Missense_Mutation_p.G26C NM_001009939.2 NP_001009939.1 Q99719 SEPT5_HUMAN septin 5 26 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity p.G26C(1) lung(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) GCAGTACGTGGGCTTCGCCAC 0.567000 21 30 5.45024e-15 6.658e-15 0.083992 1 0 TCHHL1 126637 broad.mit.edu 37 1 152057805 152057805 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:152057805C>A ENST00000368806.1 - 3 2417 c.2353G>T c.(2353-2355)Gac>Tac p.D785Y NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 785 calcium ion binding p.D785Y(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GGCTCTTGGTCTCTCTGCATC 0.488000 58 96 3.7469e-33 5.38958e-33 0.139131 1 0 BEND3 57673 broad.mit.edu 37 6 107391998 107391998 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:107391998C>A ENST00000429433.2 - 5 1046 c.397G>T c.(397-399)Ggc>Tgc p.G133C BEND3_ENST00000369042.1_Missense_Mutation_p.G133C NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 133 p.G133C(1) central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 TGCGAGATGCCATACAGAGGC 0.592000 79 108 9.37156e-40 1.38847e-39 0.139131 1 0 ITPR2 3709 broad.mit.edu 37 12 26784866 26784866 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:26784866C>A ENST00000381340.3 - 22 3283 c.2867G>T c.(2866-2868)gGg>gTg p.G956V RP11-666F17.1_ENST00000414098.2_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 956 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 p.G956V(1) 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) GGTGGGGCTCCCTTGCTTGCT 0.552000 93 120 1.77486e-58 2.76542e-58 0.139131 1 0 GCK 2645 broad.mit.edu 37 7 44190624 44190624 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:44190624C>A ENST00000403799.3 - 4 883 c.414G>T c.(412-414)caG>caT p.Q138H GCK_ENST00000345378.2_Missense_Mutation_p.Q139H|GCK_ENST00000395796.3_Missense_Mutation_p.Q137H|GCK_ENST00000437084.1_Splice_Site NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 138 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding p.Q138H(1)|p.Q139H(1) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 TGTGTTTCATCTGATGCTTGT 0.577000 38 48 7.63091e-17 9.53644e-17 0.098360 1 0 HOXB7 3217 broad.mit.edu 37 17 46685385 46685385 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:46685385T>C ENST00000239165.7 - 2 571 c.473A>G c.(472-474)tAc>tGc p.Y158C HOXB7_ENST00000567101.1_5'UTR NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 158 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Y158C(1) NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 GTAGCGATTGTAGTGAAATTC 0.557000 52 53 0 0 0.139131 0 0 KMT2C 58508 broad.mit.edu 37 7 151962241 151962241 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:151962241G>T ENST00000355193.2 - 8 1284 c.1066C>A c.(1066-1068)Cag>Aag p.Q356K KMT2C_ENST00000262189.6_Missense_Mutation_p.Q356K lysine (K)-specific methyltransferase 2C p.Q356K(4) CAAAAGAACTGATCTAAGAGG 0.413000 20 189 1.5548e-18 1.98415e-18 0.108266 1 0 PCLO 27445 broad.mit.edu 37 7 82581186 82581186 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:82581186C>A ENST00000423517.2 - 5 9420 c.9083G>T c.(9082-9084)gGg>gTg p.G3028V PCLO_ENST00000333891.8_Missense_Mutation_p.G3028V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2959 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.G3028V(2)|p.G2959V(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGTAACTCTCCCTGAAGTCAG 0.378000 26 48 7.07758e-08 7.81123e-08 0.099896 1 0 PRG4 10216 broad.mit.edu 37 1 186276051 186276051 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:186276051C>T ENST00000445192.2 + 7 1245 c.1200C>T c.(1198-1200)acC>acT p.T400T PRG4_ENST00000367486.3_Silent_p.T357T|PRG4_ENST00000367485.4_Silent_p.T307T|PRG4_ENST00000367483.4_Silent_p.T359T|PRG4_ENST00000367484.3_Silent_p.T359T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 400 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T400T(3)|p.T400>?(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCACCAAGGAGC 0.647000 3 80 0 0 0.115264 0 0 TMEM132C 92293 broad.mit.edu 37 12 128899611 128899611 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:128899611C>A ENST00000435159.2 + 2 420 c.420C>A c.(418-420)gtC>gtA p.V140V NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C 140 integral to membrane p.V140V(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 GGGACAAAGTCTACCTGAGCC 0.502000 3 12 0.00909568 0.00924033 0.150653 1 0 DNAJA2 10294 broad.mit.edu 37 16 46992959 46992959 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:46992959C>A ENST00000317089.5 - 8 1218 c.1003G>T c.(1003-1005)Gtg>Ttg p.V335L NM_005880.3 NP_005871.1 O60884 DNJA2_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 2 335 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding p.V335L(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) GGAAACTGCACATCAAACTTT 0.383000 31 34 3.90053e-15 4.79182e-15 0.163468 1 0 DMRT3 58524 broad.mit.edu 37 9 990207 990207 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:990207C>T ENST00000190165.2 + 2 659 c.621C>T c.(619-621)gtC>gtT p.V207V NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 207 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.V207V(1)|p.V70V(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GATACGCTGTCCAGAAAAACG 0.597000 37 35 0 0 0.235728 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20874895 20874895 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:20874895C>A ENST00000381552.1 + 8 1301 c.933C>A c.(931-933)tcC>tcA p.S311S SLCO1C1_ENST00000266509.2_Silent_p.S311S|SLCO1C1_ENST00000545102.1_Silent_p.S193S|SLCO1C1_ENST00000545604.1_Silent_p.S311S|SLCO1C1_ENST00000540354.1_Silent_p.S262S Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 311 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.S311S(2) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CTAATTCTTCCTCTGAGAAAT 0.373000 23 24 2.39556e-15 2.94964e-15 0.076483 1 0 TDP1 55775 broad.mit.edu 37 14 90429553 90429553 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:90429553C>T ENST00000335725.4 + 3 345 c.95C>T c.(94-96)tCt>tTt p.S32F TDP1_ENST00000555880.1_Missense_Mutation_p.S32F|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Missense_Mutation_p.S32F|TDP1_ENST00000393452.3_Missense_Mutation_p.S32F NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 32 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding p.S32F(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) TCTACCTCTTCTCTTCTCTGT 0.473000 Repair of DNA-protein crosslinks 74 81 0 0 0.139131 0 0 KRI1 65095 broad.mit.edu 37 19 10668695 10668695 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:10668695C>T ENST00000312962.6 - 14 1349 c.1330G>A c.(1330-1332)Gga>Aga p.G444R KRI1_ENST00000361821.5_Missense_Mutation_p.G440R NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 444 p.G444R(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CTCCAGTCTCCCTCCTGCTCA 0.652000 14 24 0 0 0.175082 0 0 C12orf43 64897 broad.mit.edu 37 12 121442169 121442169 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:121442169C>T ENST00000445832.3 - 6 588 c.486G>A c.(484-486)aaG>aaA p.K162K C12orf43_ENST00000366211.2_Silent_p.K151K|C12orf43_ENST00000539736.1_Silent_p.K182K|C12orf43_ENST00000288757.3_Silent_p.K192K|C12orf43_ENST00000537817.1_Silent_p.K193K|C12orf43_ENST00000536407.2_Intron Q96C57 CL043_HUMAN chromosome 12 open reading frame 43 192 p.K192K(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCTTTTTCAACTTCCTTTTCT 0.592000 62 88 0 0 0.139131 0 0 ANKRD33 341405 broad.mit.edu 37 12 52283238 52283238 + Silent SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:52283238G>C ENST00000301190.6 + 4 836 c.609G>C c.(607-609)gcG>gcC p.A203A ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_Silent_p.A68A|ANKRD33_ENST00000547119.1_3'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 68 p.A203A(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GGCTCACGGCGTTAATGAAGG 0.662000 23 35 0 0 0.116897 0 0 HEATR1 55127 broad.mit.edu 37 1 236719179 236719179 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:236719179C>T ENST00000366582.3 - 39 5689 c.5575G>A c.(5575-5577)Gag>Aag p.E1859K HEATR1_ENST00000366581.2_Missense_Mutation_p.E1778K NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1859 rRNA processing nucleolus|ribonucleoprotein complex protein binding p.E1859K(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GAGGTGAGCTCTTCCTTCTTC 0.483000 59 187 0 0 0.139131 0 0 DENND2A 27147 broad.mit.edu 37 7 140246714 140246714 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:140246714C>T ENST00000275884.6 - 12 2480 c.2063G>A c.(2062-2064)cGa>cAa p.R688Q DENND2A_ENST00000492720.1_Missense_Mutation_p.R688Q|DENND2A_ENST00000496613.1_Missense_Mutation_p.R688Q|DENND2A_ENST00000537639.1_Missense_Mutation_p.R688Q Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 688 DENN. p.R688Q(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) AGAGATGCCTCGTCTTTTTTC 0.517000 18 38 0 0 0.204396 0 0 FAM168B 130074 broad.mit.edu 37 2 131829459 131829459 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:131829459C>A ENST00000409185.1 - 3 230 c.123G>T c.(121-123)atG>atT p.M41I FAM168B_ENST00000389915.3_Missense_Mutation_p.M41I NM_001009993.2 NP_001009993.2 A1KXE4 F168B_HUMAN family with sequence similarity 168, member B 41 p.M41I(1) endometrium(3)|lung(2) 5 CTCCAGGATACATGTTAGGAG 0.463000 24 37 1.84765e-07 2.03092e-07 0.193644 1 0 NDST4 64579 broad.mit.edu 37 4 115773903 115773903 + Silent SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:115773903T>A ENST00000264363.2 - 8 2472 c.1794A>T c.(1792-1794)ctA>ctT p.L598L NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 598 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.L598L(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GACCAATTACTAGAAATTTTG 0.318000 10 25 0 0 0.080935 0 0 KLHDC9 126823 broad.mit.edu 37 1 161069200 161069200 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:161069200C>G ENST00000392192.2 + 2 734 c.592C>G c.(592-594)Cct>Gct p.P198A KLHDC9_ENST00000368011.4_Missense_Mutation_p.P198A|KLHDC9_ENST00000490724.2_3'UTR NM_001007255.2 NP_001007256.1 Q8NEP7 KLDC9_HUMAN kelch domain containing 9 198 p.P198A(2) lung(5)|upper_aerodigestive_tract(1) 6 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GCTCCAAACTCCTGGACCCCA 0.517000 51 111 0 0 0.139131 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060907 35060907 + Nonsense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:35060907G>T ENST00000373913.3 + 3 1267 c.787G>T c.(787-789)Gag>Tag p.E263* DLGAP4_ENST00000373907.2_Nonsense_Mutation_p.E263*|DLGAP4_ENST00000339266.5_Nonsense_Mutation_p.E263*|DLGAP4_ENST00000401952.2_Nonsense_Mutation_p.E263* Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 263 cell-cell signaling membrane protein binding p.E263*(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CAACACTACTGAGCTGACTGC 0.627000 30 45 7.01153e-11 8.10919e-11 0.125774 1 0 CENPF 1063 broad.mit.edu 37 1 214818975 214818975 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:214818975C>G ENST00000366955.3 + 13 6230 c.6062C>G c.(6061-6063)tCt>tGt p.S2021C NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2117 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.S2021C(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ACTTTGTCCTCTGATGTGAGT 0.458000 25 133 0 0 0.091800 0 0 MTF1 4520 broad.mit.edu 37 1 38322977 38322977 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:38322977A>C ENST00000373036.4 - 2 494 c.354T>G c.(352-354)atT>atG p.I118M NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 118 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding p.I118M(1) endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TTGCACCTTCAATATTTCTTG 0.448000 51 80 0 0 0.139131 0 0 MED13 9969 broad.mit.edu 37 17 60130024 60130024 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:60130024C>T ENST00000397786.2 - 3 420 c.344G>A c.(343-345)tGc>tAc p.C115Y NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 115 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.C115Y(1) breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CAGAGTACGGCATTCATAGGA 0.358000 91 113 0 0 0.139131 0 0 CCDC39 339829 broad.mit.edu 37 3 180397253 180397253 + Translation_Start_Site SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:180397253C>T ENST00000442201.2 - 0 35 CCDC39_ENST00000273654.4_Intron NM_181426.1 NP_852091.1 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AGCCCAGGCACCTGCACAGTG 0.582000 19 115 0 0 0.175082 0 0 VAC14 55697 broad.mit.edu 37 16 70819711 70819711 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:70819711T>A ENST00000261776.5 - 3 577 c.317A>T c.(316-318)gAc>gTc p.D106V NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 106 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity p.D106V(1) breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) CAGCCTGCTGTCTGCATCATT 0.592000 4 9 0 0 0.217242 0 0 LRRC8E 80131 broad.mit.edu 37 19 7963616 7963616 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:7963616A>C ENST00000306708.6 + 3 310 c.209A>C c.(208-210)cAg>cCg p.Q70P NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 70 integral to membrane p.Q70P(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 GCCCCGTGCCAGCAATTGCTG 0.507000 47 149 0 0 0.124865 0 0 C3orf30 152405 broad.mit.edu 37 3 118865123 118865123 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:118865123C>A ENST00000295622.1 + 1 127 c.87C>A c.(85-87)ggC>ggA p.G29G NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 29 p.G29G(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) ACACTAAGGGCCAGGAAGAAG 0.572000 28 17 1.80694e-10 2.06345e-10 0.144211 1 0 SLC18A1 6570 broad.mit.edu 37 8 20004895 20004895 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:20004895G>T ENST00000440926.1 - 16 1808 c.1338C>A c.(1336-1338)tcC>tcA p.S446S SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000519026.1_Silent_p.S414S|SLC18A1_ENST00000265808.7_Silent_p.S414S|SLC18A1_ENST00000276373.5_Silent_p.S446S NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 446 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity p.S446S(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) CACCACCGGTGGATGGACCTG 0.537000 25 36 5.45024e-15 6.658e-15 0.083992 1 0 TMEM132B 114795 broad.mit.edu 37 12 126137174 126137174 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:126137174A>T ENST00000299308.3 + 8 2095 c.2087A>T c.(2086-2088)cAg>cTg p.Q696L TMEM132B_ENST00000535886.1_Missense_Mutation_p.Q208L NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 696 integral to membrane p.Q696L(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CAGTCCCCACAGCAGGTGAGC 0.607000 24 56 0 0 0.116897 0 0 MTUS2 23281 broad.mit.edu 37 13 29608211 29608211 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:29608211C>A ENST00000431530.3 + 2 2483 c.2425C>A c.(2425-2427)Cca>Aca p.P809T NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 799 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C. cytoplasm|microtubule microtubule binding|protein homodimerization activity p.P809T(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CGCCATCCACCCACCAGGACC 0.507000 16 9 4.7546e-09 5.31771e-09 0.146539 1 0 UMOD 7369 broad.mit.edu 37 16 20359605 20359605 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:20359605C>A ENST00000396134.2 - 5 1135 c.1012G>T c.(1012-1014)Gac>Tac p.D338Y UMOD_ENST00000302509.4_Missense_Mutation_p.D305Y|UMOD_ENST00000570689.1_Missense_Mutation_p.D305Y|UMOD_ENST00000424589.1_Missense_Mutation_p.D338Y|UMOD_ENST00000396138.4_Missense_Mutation_p.D354Y|UMOD_ENST00000396142.2_Missense_Mutation_p.D305Y NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 305 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding p.D305Y(1) endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GATTTGCAGTCCTCGTCTATA 0.562000 69 99 2.22156e-40 3.30948e-40 0.139131 1 0 OBSCN 84033 broad.mit.edu 37 1 228492083 228492083 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:228492083G>A ENST00000570156.2 + 53 14156 c.14082G>A c.(14080-14082)ctG>ctA p.L4694L OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.L1384L|OBSCN_ENST00000359599.6_3'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3737 Ig-like 47. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.L4319L(1)|p.L4548L(1)|p.L4449L(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACTGTGAACTGAGCAAGGTGG 0.597000 61 123 0 0 0.139131 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31797875 31797875 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr21:31797875G>A ENST00000390690.2 - 1 411 c.356C>T c.(355-357)tCa>tTa p.S119L NM_181622.1 NP_853653.1 Q3SY46 KR133_HUMAN keratin associated protein 13-3 119 intermediate filament p.S119L(1) endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 14 ACAGCCCAGTGAGGAGCAGCT 0.483000 20 25 0 0 0.204396 0 0 MPHOSPH6 10200 broad.mit.edu 37 16 82182933 82182933 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:82182933C>A ENST00000258169.4 - 4 381 c.331G>T c.(331-333)Gat>Tat p.D111Y MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.D82Y NM_005792.2 NP_005783.2 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 111 M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding p.D111Y(1) endometrium(1)|large_intestine(1)|lung(3) 5 ATCTCTTCATCTGACACATCA 0.458000 78 107 1.91123e-38 2.81246e-38 0.139131 1 0 PPFIA4 8497 broad.mit.edu 37 1 203013218 203013218 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:203013218G>A ENST00000367240.2 + 4 1023 c.496G>A c.(496-498)Gag>Aag p.E166K PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E166K O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 0 cell communication cell surface|cytoplasm protein binding p.E313K(1) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GGCCCTGGATGAGAAGGTGCC 0.612000 4 47 0 0 0.150653 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76555172 76555172 + Nonsense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:76555172T>A ENST00000307431.8 + 17 2883 c.2498T>A c.(2497-2499)tTg>tAg p.L833* CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.L785*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.L761*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.L837* NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 834 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.L833*(1)|p.L761*(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TTAGAGAACTTGGGGATTGCT 0.368000 75 86 0 0 0.139131 0 0 MAD2L2 10459 broad.mit.edu 37 1 11734865 11734865 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:11734865A>G ENST00000235310.3 - 11 1531 c.603T>C c.(601-603)ctT>ctC p.L201L MAD2L2_ENST00000376667.3_Silent_p.L201L|MAD2L2_ENST00000376669.5_Silent_p.L214L|MAD2L2_ENST00000376672.1_Silent_p.L214L|MAD2L2_ENST00000376692.4_Silent_p.L201L Q9UI95 MD2L2_HUMAN MAD2 mitotic arrest deficient-like 2 (yeast) 201 HORMA.|Mediates interaction with ipaB. cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex JUN kinase binding p.L201L(1) kidney(1)|large_intestine(1)|lung(2)|ovary(1) 5 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;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTTCCACGTAAAGCTGCATCT 0.612000 DNA polymerases (catalytic subunits) 31 47 0 0 0.144211 0 0 KIF4B 285643 broad.mit.edu 37 5 154395249 154395249 + Silent SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:154395249T>C ENST00000435029.4 + 1 1990 c.1830T>C c.(1828-1830)gcT>gcC p.A610A NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 610 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.D611Y(2) 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) GTCAAATAGCTGATCTGAAGA 0.453000 57 59 0 0 0.139131 0 0 SLC29A1 2030 broad.mit.edu 37 6 44200166 44200166 + Splice_Site SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:44200166G>A ENST00000393841.1 + 12 1550 c.e12+1 SLC29A1_ENST00000371724.1_Splice_Site|SLC29A1_ENST00000371731.1_Splice_Site|SLC29A1_ENST00000393844.1_Splice_Site|SLC29A1_ENST00000371740.5_Splice_Site|SLC29A1_ENST00000427851.2_Splice_Site|SLC29A1_ENST00000371713.1_Splice_Site|SLC29A1_ENST00000371708.1_Splice_Site|SLC29A1_ENST00000313248.7_Splice_Site|SLC29A1_ENST00000371755.3_Splice_Site NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding p.?(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) ATTCATGTGGGTAAGTGGAGG 0.512000 46 60 0 0 0.139131 0 0 EMILIN1 11117 broad.mit.edu 37 2 27303608 27303608 + Missense_Mutation SNP G G A rs140139205 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:27303608G>A ENST00000380320.4 + 3 798 c.299G>A c.(298-300)cGc>cAc p.R100H NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 100 EMI. cell adhesion collagen p.R100H(1) breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGTACCGCCGCTTCCTCCGC 0.627000 OREG0014513 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 4 0 0 0.047766 0 0 ACAP3 116983 broad.mit.edu 37 1 1233224 1233224 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:1233224C>A ENST00000354700.5 - 14 1308 c.1106G>T c.(1105-1107)aGc>aTc p.S369I ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Missense_Mutation_p.S327I NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 369 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding p.S327I(1)|p.S369I(1) endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 ACTGTCAGGGCTCTCGCGGTA 0.687000 19 4 6.02846e-25 8.1328e-25 0.183431 1 0 IFNA7 3444 broad.mit.edu 37 9 21201973 21201973 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:21201973C>G ENST00000239347.3 - 1 231 c.192G>C c.(190-192)gaG>gaC p.E64D NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 64 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding p.E64D(1) endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CATCAAACTCCTCCTCTGGGA 0.498000 54 73 0 0 0.139131 0 0 SELP 6403 broad.mit.edu 37 1 169572376 169572376 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:169572376A>G ENST00000263686.6 - 10 1630 c.1593T>C c.(1591-1593)agT>agC p.S531S SELP_ENST00000367794.2_Silent_p.S469S|SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Silent_p.S469S|SELP_ENST00000367788.2_Silent_p.S469S|SELP_ENST00000367786.2_Silent_p.S469S|SELP_ENST00000367791.2_Silent_p.S407S|SELP_ENST00000458599.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 531 Sushi 6. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.S531S(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TGGATTTATAACTGGAACTTC 0.473000 90 67 0 0 0.139131 0 0 PYDC2 152138 broad.mit.edu 37 3 191179171 191179171 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:191179171C>A ENST00000518817.1 + 1 220 c.220C>A c.(220-222)Cag>Aag p.Q74K NM_001083308.1 NP_001076777.1 Q56P42 PYDC2_HUMAN pyrin domain containing 2 74 DAPIN. cytoplasm|nucleus p.Q74K(1) breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 GGCAGCCATCCAGGTCTTTGA 0.532000 98 81 2.87887e-39 4.25368e-39 0.139131 1 0 ZNF689 115509 broad.mit.edu 37 16 30616690 30616690 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:30616690C>T ENST00000287461.3 - 3 735 c.398G>A c.(397-399)cGg>cAg p.R133Q RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R133Q(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) GCTGGGCCTCCGGCCTCGCTT 0.572000 77 211 0 0 0.139131 0 0 DACT1 51339 broad.mit.edu 37 14 59112838 59112838 + Silent SNP G G A rs145184753 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:59112838G>A ENST00000395153.3 + 4 1533 c.1386G>A c.(1384-1386)gaG>gaA p.E462E DACT1_ENST00000395151.3_Silent_p.E218E|DACT1_ENST00000541264.2_Silent_p.E218E|DACT1_ENST00000556859.1_Silent_p.E218E|DACT1_ENST00000335867.4_Silent_p.E499E NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 499 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus p.E499E(1) endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CGCCGCAGGAGAACAAAGTTG 0.607000 55 96 0 0 0.139131 0 0 GNAI1 2770 broad.mit.edu 37 7 79818431 79818431 + Nonsense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:79818431G>T ENST00000351004.3 + 3 560 c.187G>T c.(187-189)Gaa>Taa p.E63* GNAI1_ENST00000457358.2_Nonsense_Mutation_p.E11*|GNAI1_ENST00000490206.1_3'UTR NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 63 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity p.E63*(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 TGGTTATTCAGAAGAGGAGTG 0.363000 15 16 3.45872e-05 3.62215e-05 0.146539 1 0 SYNE1 23345 broad.mit.edu 37 6 152737697 152737697 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:152737697C>A ENST00000367255.5 - 41 6476 c.5875G>T c.(5875-5877)Gta>Tta p.V1959L SYNE1_ENST00000341594.5_Missense_Mutation_p.V1996L|SYNE1_ENST00000265368.4_Missense_Mutation_p.V1959L|SYNE1_ENST00000423061.1_Missense_Mutation_p.V1966L|SYNE1_ENST00000448038.1_Missense_Mutation_p.V1966L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1959 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.V1959L(2)|p.V1966L(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCCTCTCTACCTCTCCACAG 0.502000 HNSCC(10;0.0054) 107 155 1.73885e-55 2.69385e-55 0.139131 1 0 FOXK1 221937 broad.mit.edu 37 7 4780536 4780536 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:4780536G>T ENST00000328914.4 + 2 628 c.628G>T c.(628-630)Gcc>Tcc p.A210S FOXK1_ENST00000446823.1_Missense_Mutation_p.A47S NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 210 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.A210S(1)|p.A36S(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CAAAGAAGAGGCCCCAGCCTC 0.632000 158 178 4.78454e-111 7.5965e-111 0.139131 1 0 TJP1 7082 broad.mit.edu 37 15 30010302 30010302 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:30010302T>G ENST00000346128.6 - 22 4371 c.3897A>C c.(3895-3897)aaA>aaC p.K1299N TJP1_ENST00000400011.2_Missense_Mutation_p.K1223N|TJP1_ENST00000356107.6_Missense_Mutation_p.K1299N|TJP1_ENST00000545208.2_Missense_Mutation_p.K1219N NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1299 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction p.K1299N(1) breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CACCTGAAGGTTTAGATGCTA 0.368000 153 38 0 0 0.139131 0 0 LMNA 4000 broad.mit.edu 37 1 156100423 156100423 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:156100423G>A ENST00000368300.4 + 2 584 c.372G>A c.(370-372)gaG>gaA p.E124E LMNA_ENST00000392353.3_Silent_p.E43E|LMNA_ENST00000361308.4_Silent_p.E124E|LMNA_ENST00000347559.2_Silent_p.E124E|LMNA_ENST00000448611.2_Silent_p.E12E|LMNA_ENST00000473598.2_Silent_p.E25E|LMNA_ENST00000368299.3_Silent_p.E124E|LMNA_ENST00000368301.2_Silent_p.E124E|LMNA_ENST00000368297.1_Silent_p.E43E NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 124 Coil 1B.|Interaction with MLIP.|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 p.E124E(1) NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) CCAAGAAGGAGGGTGACCTGA 0.572000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome OREG0013866 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 57 0 0 0.144211 0 0 TDO2 6999 broad.mit.edu 37 4 156841118 156841118 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:156841118C>A ENST00000536354.2 + 12 1261 c.1197C>A c.(1195-1197)taC>taA p.Y399* NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 399 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity p.Y399*(1) breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) ATAGCTCCTACTTCAGCAGTG 0.348000 30 24 2.80507e-11 3.26857e-11 0.163468 1 0 BRINP3 339479 broad.mit.edu 37 1 190067209 190067209 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:190067209T>G ENST00000367462.3 - 8 2471 c.2240A>C c.(2239-2241)cAg>cCg p.Q747P FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.Q645P NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 747 extracellular region p.Q747P(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) ATTAAACGCCTGCAGAGCAGA 0.438000 73 177 0 0 0.139131 0 0 TRMT10C 54931 broad.mit.edu 37 3 101283640 101283640 + Silent SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:101283640C>G ENST00000309922.6 + 2 169 c.15C>G c.(13-15)ctC>ctG p.L5L NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) p.L5L(1) CTGCTTTCCTCAAAATGAGTG 0.323000 17 427 0 0 0.189662 0 0 PPFIA2 8499 broad.mit.edu 37 12 81762625 81762625 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:81762625C>G ENST00000550584.2 - 12 1656 c.1361G>C c.(1360-1362)aGa>aCa p.R454T PPFIA2_ENST00000541570.2_Missense_Mutation_p.R21T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R454T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R454T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R380T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R301T|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R454T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R436T|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R355T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R436T NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 380 p.R454T(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CATTTTCTCTCTTTGCCTAGC 0.303000 22 35 0 0 0.076483 0 0 CD5L 922 broad.mit.edu 37 1 157804200 157804200 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:157804200C>A ENST00000368174.4 - 4 811 c.715G>T c.(715-717)Gaa>Taa p.E239* NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 239 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity p.E239*(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCATTACCTTCACATTCGACC 0.453000 30 19 1.99505e-19 2.55498e-19 0.163468 1 0 PDK2 5164 broad.mit.edu 37 17 48184161 48184161 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:48184161T>C ENST00000503176.1 + 5 682 c.521T>C c.(520-522)cTc>cCc p.L174P PDK2_ENST00000007708.3_Missense_Mutation_p.L110P NM_002611.4 NP_002602.2 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase, isozyme 2 174 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.L174P(1) central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 20 CCTGCAGCCCTCATCTTTGAT 0.592000 Autosomal Dominant Polycystic Kidney Disease 3 85 0 0 0.115264 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186901923 186901923 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:186901923G>T ENST00000367466.3 + 8 739 c.587G>T c.(586-588)gGt>gTt p.G196V PLA2G4A_ENST00000466600.1_Intron|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.G136V NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 196 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity p.G196V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TTGGGTTCAGGTGGGGGTTTC 0.448000 69 147 5.52034e-35 8.00413e-35 0.139131 1 0 CLDN17 26285 broad.mit.edu 37 21 31538455 31538455 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr21:31538455G>C ENST00000286808.3 - 1 516 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_012131.2 NP_036263.1 P56750 CLD17_HUMAN claudin 17 161 calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity p.L161V(1) NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 23 GCTGCTCCCAGCTCTCGTTTC 0.517000 30 30 0 0 0.125774 0 0 TTLL2 83887 broad.mit.edu 37 6 167753987 167753987 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:167753987A>G ENST00000239587.5 + 3 687 c.599A>G c.(598-600)cAg>cGg p.Q200R NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 200 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity p.Q200R(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CAGGAGAGGCAGATGCTGGGC 0.473000 42 69 0 0 0.139131 0 0 TPH1 7166 broad.mit.edu 37 11 18057531 18057531 + Silent SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:18057531T>G ENST00000250018.2 - 2 838 c.276A>C c.(274-276)ccA>ccC p.P92P TPH1_ENST00000341556.2_Silent_p.P92P NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 92 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity p.P92P(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) TAAAATTATCTGGTAGATTCA 0.318000 23 25 0 0 0.083992 0 0 KMT2C 58508 broad.mit.edu 37 7 151970897 151970897 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:151970897C>A ENST00000355193.2 - 7 1123 c.905G>T c.(904-906)tGt>tTt p.C302F KMT2C_ENST00000262189.6_Missense_Mutation_p.C302F lysine (K)-specific methyltransferase 2C p.C302F(2) CATCTGGGTACATTTCTCTTC 0.433000 7 112 0.000673444 0.000693232 0.069234 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140720708 140720708 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140720708C>G ENST00000394576.2 + 1 2170 c.2170C>G c.(2170-2172)Ctg>Gtg p.L724V PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.L724V(2) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGTCACGCCTGCTGCAGGC 0.642000 55 75 0 0 0.139131 0 0 ERCC6 2074 broad.mit.edu 37 10 50690785 50690785 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:50690785T>A ENST00000355832.5 - 10 2195 c.2117A>T c.(2116-2118)cAg>cTg p.Q706L ERCC6_ENST00000542458.1_Missense_Mutation_p.Q76L NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 706 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding p.Q706L(1) breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GACGGAGAACTGCTCCATAAA 0.448000 Direct reversal of damage;Nucleotide excision repair (NER) 26 49 0 0 0.108266 0 0 CHD2 1106 broad.mit.edu 37 15 93492225 93492225 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:93492225C>G ENST00000394196.4 + 13 2489 c.1421C>G c.(1420-1422)cCt>cGt p.P474R CHD2_ENST00000536619.1_Missense_Mutation_p.P487R|CHD2_ENST00000420239.2_Missense_Mutation_p.P474R|CHD2_ENST00000557381.1_Missense_Mutation_p.P474R NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 474 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding p.P474R(2) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAGAAACAACCTGCATATTTA 0.408000 92 96 0 0 0.139131 0 0 NLRP14 338323 broad.mit.edu 37 11 7091678 7091678 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:7091678A>T ENST00000299481.4 + 11 3483 c.3137A>T c.(3136-3138)cAa>cTa p.Q1046L NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 1046 cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.Q1046L(1) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGTAAACTACAAGTTCTAGGG 0.388000 35 49 0 0 0.203993 0 0 TTN 7273 broad.mit.edu 37 2 179441840 179441840 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179441840G>A ENST00000589042.1 - 324 69446 c.69222C>T c.(69220-69222)tcC>tcT p.S23074S TTN_ENST00000460472.2_Silent_p.S14009S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.S21433S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S14134S|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Silent_p.S20506S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.S14201S|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21433 P -> L. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S14134S(1)|p.S20504S(1)|p.S20506S(1)|p.S14201S(1)|p.S14009S(1) 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) CAAGTATATAGGACTTAATTG 0.448000 35 47 0 0 0.183431 0 0 AP3B1 8546 broad.mit.edu 37 5 77385316 77385316 + Silent SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:77385316T>A ENST00000255194.6 - 22 2653 c.2478A>T c.(2476-2478)ccA>ccT p.P826P AP3B1_ENST00000519295.1_Silent_p.P777P NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 826 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity p.P826P(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) GAGTGGATACTGGGTTAACTG 0.353000 Hermansky-Pudlak syndrome 22 33 0 0 0.076483 0 0 NT5E 4907 broad.mit.edu 37 6 86176908 86176908 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:86176908T>C ENST00000257770.3 + 2 519 c.470T>C c.(469-471)cTt>cCt p.L157P NT5E_ENST00000369651.3_Missense_Mutation_p.L157P|NT5E_ENST00000369646.3_Missense_Mutation_p.L157P NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 157 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding p.L157P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) ATATCAGGACTTTATTTGCCA 0.418000 36 41 0 0 0.214465 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654687 31654687 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr21:31654687G>T ENST00000340345.4 - 1 589 c.564C>A c.(562-564)gtC>gtA p.V188V NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 188 keratin filament structural molecule activity p.V188V(1) breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 ATAATGGTGAGACGTAGCTGG 0.418000 58 106 4.6707e-30 6.58751e-30 0.139131 1 0 EPS15 2060 broad.mit.edu 37 1 51875246 51875246 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:51875246G>T ENST00000371733.3 - 14 1332 c.1236C>A c.(1234-1236)ctC>ctA p.L412L EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Silent_p.L412L|EPS15_ENST00000396122.4_Silent_p.L89L NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 412 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2)|p.L412L(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 TGACTTCCTTGAGTTGCTCCT 0.483000 T MLL ALL 31 59 1.45844e-13 1.75012e-13 0.173368 1 0 IGSF21 84966 broad.mit.edu 37 1 18692014 18692014 + Missense_Mutation SNP A A T rs140063076 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:18692014A>T ENST00000251296.1 + 6 1221 c.838A>T c.(838-840)Agc>Tgc p.S280C NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 280 extracellular region p.S280C(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CTGGGTCCACAGCGCCGAGCC 0.637000 59 94 0 0 0.139131 0 0 SRRM2 23524 broad.mit.edu 37 16 2815031 2815031 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:2815031C>T ENST00000301740.8 + 11 5051 c.4502C>T c.(4501-4503)tCa>tTa p.S1501L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1501 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding p.S1501L(1) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CGTTCTCCATCATCCCCAGAG 0.522000 128 187 0 0 0.139131 0 0 ADCY5 111 broad.mit.edu 37 3 123038571 123038571 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:123038571G>A ENST00000462833.1 - 10 3418 c.2206C>T c.(2206-2208)Cac>Tac p.H736Y ADCY5_ENST00000309879.5_Missense_Mutation_p.H386Y|ADCY5_ENST00000491190.1_Missense_Mutation_p.H369Y NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 736 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding p.H736Y(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) TTGCGGACGTGCTCAGACCGA 0.597000 20 59 0 0 0.219247 0 0 ICK 22858 broad.mit.edu 37 6 52871150 52871150 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:52871150C>T ENST00000356971.3 - 14 2196 c.1707G>A c.(1705-1707)caG>caA p.Q569Q ICK_ENST00000350082.5_Silent_p.Q569Q NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 569 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding p.Q569Q(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) GGTGTACCCTCTGCATAGCAG 0.408000 21 129 0 0 0.083992 0 0 COL4A4 1286 broad.mit.edu 37 2 228004926 228004926 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:228004926C>G ENST00000396625.3 - 4 350 c.143G>C c.(142-144)gGa>gCa p.G48A COL4A4_ENST00000329662.7_Missense_Mutation_p.G48A NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 48 7S domain. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.G48A(1) breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ATCTCTTCCTCCACAAGGACC 0.403000 18 45 0 0 0.091800 0 0 OXR1 55074 broad.mit.edu 37 8 107752601 107752601 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:107752601G>T ENST00000445937.1 + 13 2374 c.2113G>T c.(2113-2115)Ggc>Tgc p.G705C OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000312046.6_Missense_Mutation_p.G698C|OXR1_ENST00000449762.2_Missense_Mutation_p.G75C|OXR1_ENST00000452423.2_Missense_Mutation_p.G153C|OXR1_ENST00000531443.1_Missense_Mutation_p.G705C|OXR1_ENST00000517566.2_Missense_Mutation_p.G732C|OXR1_ENST00000442977.2_Missense_Mutation_p.G733C|OXR1_ENST00000297447.6_Missense_Mutation_p.G102C NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 733 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion p.G102C(1)|p.G733C(1)|p.G617C(1) NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) AAGAACAATTGGCTATCCATG 0.383000 31 48 1.06801e-11 1.2539e-11 0.144211 1 0 GC 2638 broad.mit.edu 37 4 72623761 72623761 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:72623761C>A ENST00000273951.8 - 7 1172 c.829G>T c.(829-831)Gag>Tag p.E277* GC_ENST00000513476.1_Nonsense_Mutation_p.E277*|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Nonsense_Mutation_p.E296* NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 277 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity p.E296*(1)|p.E277*(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TGTCTTACCTCTTTGGCCATG 0.423000 20 38 1.10923e-09 1.25613e-09 0.076483 1 0 GPR85 54329 broad.mit.edu 37 7 112724477 112724477 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:112724477C>A ENST00000501255.2 - 3 923 c.300G>T c.(298-300)ctG>ctT p.L100L GPR85_ENST00000449591.1_Silent_p.L100L|GPR85_ENST00000297146.2_Silent_p.L100L|GPR85_ENST00000424100.1_Silent_p.L100L NM_001146265.1|NM_001146266.1|NM_018970.6 NP_001139737.1|NP_001139738.1|NP_061843.3 P60893 GPR85_HUMAN G protein-coupled receptor 85 100 integral to membrane|plasma membrane G-protein coupled receptor activity p.L100L(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 ACAAAACCCCCAGAAAGGCAA 0.443000 39 80 6.68952e-21 8.70038e-21 0.131918 1 0 OR5K4 403278 broad.mit.edu 37 3 98072866 98072866 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:98072866A>T ENST00000354924.2 + 1 169 c.169A>T c.(169-171)Aca>Tca p.T57S RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T57S(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 TCGTCTTCTCACACCAATGTA 0.468000 136 380 0 0 0.139131 0 0 TRPM8 79054 broad.mit.edu 37 2 234846051 234846051 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:234846051G>T ENST00000324695.4 + 4 286 c.246G>T c.(244-246)caG>caT p.Q82H TRPM8_ENST00000355722.4_Missense_Mutation_p.Q32H|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.Q5H NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 82 integral to membrane p.Q82H(1) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) AAGGCACCCAGATCAACCAAA 0.488000 68 78 4.46356e-37 6.55058e-37 0.139131 1 0 SLC14A2 8170 broad.mit.edu 37 18 43247870 43247870 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:43247870C>A ENST00000255226.6 + 14 2606 c.1790C>A c.(1789-1791)cCc>cAc p.P597H SLC14A2_ENST00000586448.1_Missense_Mutation_p.P597H|SLC14A2_ENST00000589658.1_Missense_Mutation_p.P74H NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 597 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity p.P597H(1) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTGAACAACCCCCTCAGCGGC 0.567000 95 136 4.10057e-40 6.09196e-40 0.139131 1 0 NTF3 4908 broad.mit.edu 37 12 5603701 5603701 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:5603701C>A ENST00000423158.3 + 2 572 c.360C>A c.(358-360)agC>agA p.S120R NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.S107R NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 107 signal transduction extracellular region growth factor activity|neurotrophin receptor binding p.S107R(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 TCCTGCTGAGCGACAGCACCC 0.632000 32 37 4.65686e-17 5.85342e-17 0.193644 1 0 FOXB2 442425 broad.mit.edu 37 9 79635143 79635143 + Silent SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:79635143T>C ENST00000376708.1 + 1 573 c.573T>C c.(571-573)ccT>ccC p.P191P NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 191 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P191P(2) breast(1)|lung(8)|ovary(1) 10 CGCAGCCGCCTCCGCACCTCC 0.731000 5 17 0 0 0.038147 0 0 RUVBL2 10856 broad.mit.edu 37 19 49518853 49518853 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:49518853A>G ENST00000413176.2 + 14 2289 c.1141A>G c.(1141-1143)Atc>Gtc p.I381V RUVBL2_ENST00000601968.1_Silent_p.T337T|RUVBL2_ENST00000595090.1_Missense_Mutation_p.I426V Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 426 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding p.I426V(1) large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) GGTGGATGACATCAAGCGGGT 0.587000 41 13 0 0 0.139131 0 0 ACER3 55331 broad.mit.edu 37 11 76709817 76709817 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:76709817G>C ENST00000532485.1 + 7 553 c.449G>C c.(448-450)gGa>gCa p.G150A ACER3_ENST00000526597.1_Missense_Mutation_p.G55A|ACER3_ENST00000544113.1_Missense_Mutation_p.G17A|ACER3_ENST00000533873.1_Missense_Mutation_p.G113A|ACER3_ENST00000538157.1_Missense_Mutation_p.G108A NM_018367.5 NP_060837.3 Q9NUN7 ACER3_HUMAN alkaline ceramidase 3 150 ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process integral to endoplasmic reticulum membrane|integral to Golgi membrane phytoceramidase activity p.G150A(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 9 GTCATGTATGGAATGTTGGTC 0.338000 17 32 0 0 0.189662 0 0 IL27 246778 broad.mit.edu 37 16 28515337 28515337 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:28515337A>G ENST00000356897.1 - 2 88 c.66T>C c.(64-66)gtT>gtC p.V22V NM_145659.3 NP_663634.2 Q8NEV9 IL27A_HUMAN interleukin 27 22 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding p.V22V(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 CACCAGCTTGAACCAGGAGCA 0.607000 30 37 0 0 0.173368 0 0 YEATS2 55689 broad.mit.edu 37 3 183474351 183474351 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:183474351C>T ENST00000305135.5 + 12 1621 c.1426C>T c.(1426-1428)Cct>Tct p.P476S NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 476 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding p.P476S(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATCACCATTGCCTCGAACCCC 0.443000 220 201 0 0 0.139131 0 0 OR4D2 124538 broad.mit.edu 37 17 56247335 56247335 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:56247335T>G ENST00000545221.1 + 1 319 c.319T>G c.(319-321)Ttg>Gtg p.L107V NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L107V(1) breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 CTTCCACTTTTTGGGAGGTGC 0.527000 127 97 0 0 0.139131 0 0 DNAH5 1767 broad.mit.edu 37 5 13823414 13823414 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:13823414G>A ENST00000265104.4 - 40 6749 c.6645C>T c.(6643-6645)gaC>gaT p.D2215D NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2215 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D2215D(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AACCTGCCTTGTCCAGAAGAA 0.388000 Kartagener syndrome 66 83 0 0 0.139131 0 0 C1orf177 163747 broad.mit.edu 37 1 55277513 55277513 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:55277513A>T ENST00000358193.3 + 5 581 c.527A>T c.(526-528)tAc>tTc p.Y176F C1orf177_ENST00000371273.3_Missense_Mutation_p.Y176F NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 176 p.Y176F(1) breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 GGTAACCCATACACCAAGCTG 0.587000 28 38 0 0 0.134883 0 0 C7 730 broad.mit.edu 37 5 40937675 40937675 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:40937675G>T ENST00000313164.9 + 6 809 c.450G>T c.(448-450)caG>caT p.Q150H NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 150 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex p.Q150H(1) Ovarian(839;0.0112) TCACTGGCCAGTTTAGGAACA 0.408000 9 18 1.49906e-05 1.58672e-05 0.119110 1 0 CDK5RAP2 55755 broad.mit.edu 37 9 123201727 123201727 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:123201727G>A ENST00000349780.4 - 24 3851 c.3672C>T c.(3670-3672)ttC>ttT p.F1224F CDK5RAP2_ENST00000359309.3_Silent_p.F1183F|CDK5RAP2_ENST00000360822.3_Silent_p.F1192F|CDK5RAP2_ENST00000360190.4_Silent_p.F1224F NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1224 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding p.F1224F(1) breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GGATCTCACTGAAAAGTTGCA 0.493000 OREG0019438 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 107 0 0 0.029380 0 0 ZNF343 79175 broad.mit.edu 37 20 2474173 2474173 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:2474173G>T ENST00000278772.4 - 4 656 c.169C>A c.(169-171)Caa>Aaa p.Q57K ZNF343_ENST00000358413.2_Missense_Mutation_p.Q57K|ZNF343_ENST00000381253.1_Missense_Mutation_p.Q57K|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.Q57K NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q57K(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 ACCACTATTTGGGCCTTTCCC 0.448000 32 27 6.05902e-23 8.11356e-23 0.193644 1 0 KCNV2 169522 broad.mit.edu 37 9 2717919 2717919 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:2717919C>T ENST00000382082.3 + 1 418 c.180C>T c.(178-180)gaC>gaT p.D60D NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 60 voltage-gated potassium channel complex voltage-gated potassium channel activity p.D60D(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) AAGACGAAGACGGCGAGGAGG 0.652000 59 100 0 0 0.139131 0 0 MEGF10 84466 broad.mit.edu 37 5 126783278 126783278 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:126783278G>A ENST00000274473.6 + 22 3025 c.2758G>A c.(2758-2760)Gct>Act p.A920T MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.A920T NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 920 cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup p.A920T(1) breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TGGTGGAAACGCTAATAGCCA 0.493000 44 58 0 0 0.139131 0 0 C14orf39 317761 broad.mit.edu 37 14 60903733 60903733 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:60903733C>A ENST00000321731.3 - 18 1753 c.1594G>T c.(1594-1596)Ggc>Tgc p.G532C NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 532 p.G532C(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) AATGTAAAGCCATCTTCTCCT 0.313000 36 52 1.34996e-11 1.58322e-11 0.111260 1 0 FBN3 84467 broad.mit.edu 37 19 8138167 8138167 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:8138167C>A ENST00000600128.1 - 62 8131 c.7717G>T c.(7717-7719)Gcc>Tcc p.A2573S FBN3_ENST00000270509.2_Missense_Mutation_p.A2573S|FBN3_ENST00000601739.1_Missense_Mutation_p.A2573S Q75N90 FBN3_HUMAN fibrillin 3 2573 EGF-like 43; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.A2573S(1) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGCGACAGGGCACACTCATTC 0.642000 18 14 3.32936e-07 3.6302e-07 0.175082 1 0 DLL1 28514 broad.mit.edu 37 6 170592416 170592416 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:170592416C>A ENST00000366756.3 - 9 2284 c.1951G>T c.(1951-1953)Gac>Tac p.D651Y NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 651 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding p.D651Y(1) NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) ACGGCGGTGTCGTCACCCTTG 0.657000 37 45 2.66277e-13 3.18126e-13 0.246493 1 0 CHD1L 9557 broad.mit.edu 37 1 146758077 146758077 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:146758077G>A ENST00000369258.4 + 18 2141 c.2121G>A c.(2119-2121)ctG>ctA p.L707L CHD1L_ENST00000431239.1_Silent_p.L613L|CHD1L_ENST00000361293.5_Silent_p.L426L|CHD1L_ENST00000369259.3_Silent_p.L503L|CHD1L_ENST00000467213.1_3'UTR NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 707 Macro. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding p.D708Y(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) CTGCTGAGCTGGATTACCAAG 0.562000 65 100 0 0 0.139131 0 0 THSD7A 221981 broad.mit.edu 37 7 11468641 11468641 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:11468641G>A ENST00000423059.3 - 14 3427 c.3176C>T c.(3175-3177)tCt>tTt p.S1059F AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1059 TSP type-1 11. integral to membrane p.S1059F(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) CAGCCATTTAGAACGAACCTT 0.507000 HNSCC(18;0.044) 101 180 0 0 0.139131 0 0 RP11-467H10.2 0 broad.mit.edu 37 7 76682356 76682356 + RNA SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:76682356G>T ENST00000459742.1 + 0 58 CTGGAACAGGGCTATCTGAGA 0.587000 25 96 1.42033e-22 1.89261e-22 0.203993 1 0 SPTLC3 55304 broad.mit.edu 37 20 13029632 13029632 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:13029632G>C ENST00000399002.2 + 2 431 c.157G>C c.(157-159)Gaa>Caa p.E53Q SPTLC3_ENST00000378194.4_Missense_Mutation_p.E53Q|SPTLC3_ENST00000476791.1_3'UTR NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 53 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups p.E26Q(1)|p.E53Q(1) breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GCTCATTGTTGAATCGTTTGA 0.373000 42 125 0 0 0.139131 0 0 OPTN 10133 broad.mit.edu 37 10 13154609 13154609 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:13154609G>T ENST00000378748.3 + 6 888 c.526G>T c.(526-528)Gat>Tat p.D176Y OPTN_ENST00000378757.2_Missense_Mutation_p.D176Y|OPTN_ENST00000378752.3_Missense_Mutation_p.D176Y|OPTN_ENST00000378747.3_Missense_Mutation_p.D176Y|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378764.2_Missense_Mutation_p.D176Y|OPTN_ENST00000263036.5_Missense_Mutation_p.D176Y NM_001008211.1|NM_001008213.1 NP_001008212.1|NP_001008214.1 Q96CV9 OPTN_HUMAN optineurin 176 Interaction with Rab8. cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding p.D176Y(1) breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 CTCCTCAGAAGATTCCTTTGT 0.463000 64 95 1.49552e-23 2.00511e-23 0.139131 1 0 BBS10 79738 broad.mit.edu 37 12 76739974 76739974 + Silent SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:76739974A>T ENST00000393262.3 - 2 1874 c.1791T>A c.(1789-1791)ggT>ggA p.G597G NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 597 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding p.G597G(1) endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 GCAAAACACAACCAGCTGGCA 0.383000 Bardet-Biedl syndrome 50 53 0 0 0.139131 0 0 DNAH10 196385 broad.mit.edu 37 12 124360011 124360011 + Silent SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:124360011T>C ENST00000409039.3 + 46 7843 c.7818T>C c.(7816-7818)taT>taC p.Y2606Y NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2606 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.Y2606Y(1)|p.Y1198Y(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ATTTAATTTATTCCTCCATCC 0.448000 40 60 0 0 0.124865 0 0 C4orf27 54969 broad.mit.edu 37 4 170652995 170652995 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:170652995C>G ENST00000393381.2 - 7 844 c.769G>C c.(769-771)Gag>Cag p.E257Q NM_017867.2 NP_060337.2 Q9NWY4 CD027_HUMAN chromosome 4 open reading frame 27 257 nucleus p.E257Q(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 12 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116) CTTGCAGCCTCAACTATTGTC 0.353000 18 46 0 0 0.219247 0 0 ZNF536 9745 broad.mit.edu 37 19 30935922 30935922 + Nonsense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:30935922A>T ENST00000355537.3 + 2 1600 c.1453A>T c.(1453-1455)Aag>Tag p.K485* NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.K485*(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGAGGGGGACAAGCACTCCCT 0.657000 41 56 0 0 0.117977 0 0 NUP205 23165 broad.mit.edu 37 7 135290909 135290909 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:135290909T>C ENST00000285968.6 + 20 2866 c.2840T>C c.(2839-2841)cTa>cCa p.L947P NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 947 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.L947P(1) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AGTCAGAAACTAATGGCTGGA 0.318000 71 90 0 0 0.139131 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723873 140723873 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140723873C>A ENST00000253812.6 + 1 273 c.273C>A c.(271-273)gaC>gaA p.D91E PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.D91E(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGGATAGACCGGGAGGAGC 0.498000 41 57 2.59497e-14 3.15228e-14 0.098360 1 0 FAM47A 158724 broad.mit.edu 37 X 34148601 34148601 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:34148601G>A ENST00000346193.3 - 1 1846 c.1795C>T c.(1795-1797)Ctt>Ttt p.L599F NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 599 p.L599F(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CTATATTGAAGAGAGTCAGAA 0.443000 48 12 0 0 0.139131 0 0 LPHN3 23284 broad.mit.edu 37 4 62758560 62758560 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:62758560C>G ENST00000512091.1 + 9 2210 c.1463C>G c.(1462-1464)tCg>tGg p.S488W LPHN3_ENST00000507164.1_Missense_Mutation_p.S556W|LPHN3_ENST00000511324.1_Missense_Mutation_p.S556W|LPHN3_ENST00000507625.1_Missense_Mutation_p.S556W|LPHN3_ENST00000504896.1_Missense_Mutation_p.S488W|LPHN3_ENST00000545650.1_Missense_Mutation_p.S488W|LPHN3_ENST00000508693.1_Missense_Mutation_p.S556W|LPHN3_ENST00000506720.1_Missense_Mutation_p.S556W|LPHN3_ENST00000506746.1_Missense_Mutation_p.S556W|LPHN3_ENST00000508946.1_Missense_Mutation_p.S488W|LPHN3_ENST00000506700.1_Missense_Mutation_p.S488W|LPHN3_ENST00000514996.1_Missense_Mutation_p.S488W|LPHN3_ENST00000509896.1_Missense_Mutation_p.S556W|LPHN3_ENST00000514591.1_Missense_Mutation_p.S488W|LPHN3_ENST00000514157.1_Missense_Mutation_p.S488W Q9HAR2 LPHN3_HUMAN latrophilin 3 488 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.S488W(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CCATCAGCATCGTCCCAAATC 0.522000 13 18 0 0 0.119110 0 0 CENPF 1063 broad.mit.edu 37 1 214830542 214830542 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:214830542G>A ENST00000366955.3 + 18 8920 c.8752G>A c.(8752-8754)Gaa>Aaa p.E2918K NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 3014 Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.E2918K(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TTCTGTTACTGAAAAGAGGTT 0.478000 57 198 0 0 0.139131 0 0 CRYBG3 131544 broad.mit.edu 37 3 97596395 97596395 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:97596395G>A ENST00000182096.4 + 1 577 c.513G>A c.(511-513)caG>caA p.Q171Q NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 p.Q171Q(1) breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 GTGAAAACCAGTCCTCTTCTG 0.458000 7 83 0 0 0.029380 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69002401 69002401 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:69002401C>A ENST00000295381.3 + 2 529 c.110C>A c.(109-111)cCa>cAa p.P37Q ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P37Q|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P30Q|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P30Q|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P30Q|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P37Q|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.P11Q NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 37 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.P30Q(1)|p.P37Q(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GCCTTCCATCCATCGTCCACC 0.587000 155 239 6.19549e-64 9.70895e-64 0.139131 1 0 TTN 7273 broad.mit.edu 37 2 179422207 179422207 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179422207G>T ENST00000589042.1 - 329 88006 c.87782C>A c.(87781-87783)cCa>cAa p.P29261Q TTN_ENST00000460472.2_Missense_Mutation_p.P20196Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27620Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P20321Q|TTN_ENST00000342992.6_Missense_Mutation_p.P26693Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P20388Q|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27620 Fibronectin type-III 113. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P26693K(1)|p.P26691K(1)|p.P20321K(1)|p.P20196K(1)|p.P20388K(1) 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) ATTTGACACTGGTTCATGCCA 0.453000 38 51 4.44401e-20 5.73183e-20 0.117977 1 0 MADD 8567 broad.mit.edu 37 11 47330834 47330834 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:47330834A>C ENST00000342922.4 + 24 4114 c.3757A>C c.(3757-3759)Aaa>Caa p.K1253Q MADD_ENST00000311027.5_Missense_Mutation_p.K1312Q|MADD_ENST00000407859.3_Missense_Mutation_p.K1230Q|MADD_ENST00000395344.3_Missense_Mutation_p.K1206Q|MADD_ENST00000349238.3_Missense_Mutation_p.K1273Q|MADD_ENST00000406482.1_Missense_Mutation_p.K1210Q|MADD_ENST00000402799.1_Missense_Mutation_p.K1210Q|MADD_ENST00000395336.3_Missense_Mutation_p.K1312Q|MADD_ENST00000405573.2_Missense_Mutation_p.K122Q|MADD_ENST00000402192.2_Missense_Mutation_p.K1252Q NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1312 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity p.K1312Q(1) breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CTATGCAGGCAAAGAGCGTTC 0.398000 78 110 0 0 0.139131 0 0 KLHL22 84861 broad.mit.edu 37 22 20796476 20796476 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:20796476G>C ENST00000328879.4 - 7 1945 c.1789C>G c.(1789-1791)Ctg>Gtg p.L597V KLHL22_ENST00000440659.2_Missense_Mutation_p.L454V NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 597 cell division Cul3-RING ubiquitin ligase complex p.L597V(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TCAAGGAGCAGGGAGCGGGGC 0.642000 6 28 0 0 0.029380 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686330 108686330 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:108686330C>A ENST00000397688.2 - 3 773 c.404G>T c.(403-405)cGc>cTc p.R135L CMKLR1_ENST00000550402.1_Missense_Mutation_p.R137L|CMKLR1_ENST00000312143.7_Missense_Mutation_p.R137L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R137L|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R135L NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 137 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.R135L(1) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 AGAGATGCAGCGGTCAGAGCT 0.557000 31 55 8.73648e-17 1.0893e-16 0.203993 1 0 GCC2 9648 broad.mit.edu 37 2 109087635 109087635 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:109087635G>T ENST00000309863.6 + 6 2564 c.1850G>T c.(1849-1851)tGt>tTt p.C617F NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 617 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding p.C617F(1) breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 CATAAGAAATGTGAAAGGGAA 0.303000 18 16 1.01871e-10 1.17319e-10 0.204396 1 0 LY9 4063 broad.mit.edu 37 1 160783548 160783548 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:160783548C>A ENST00000263285.5 + 3 607 c.577C>A c.(577-579)Cca>Aca p.P193T LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.P153T|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.P193T NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 193 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane p.P193T(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CAGCTGGACCCCAAGGGAACC 0.522000 91 239 1.61169e-53 2.48974e-53 0.139131 1 0 TTLL4 9654 broad.mit.edu 37 2 219602866 219602866 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:219602866G>C ENST00000392102.1 + 3 807 c.467G>C c.(466-468)aGt>aCt p.S156T TTLL4_ENST00000442769.1_Missense_Mutation_p.S156T|TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000258398.4_Missense_Mutation_p.S156T NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 156 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity p.S156T(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CTCCCTGTCAGTCTCACTGCC 0.542000 104 118 0 0 0.139131 0 0 OAS1 4938 broad.mit.edu 37 12 113357227 113357227 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:113357227G>A ENST00000202917.5 + 6 1335 c.1072G>A c.(1072-1074)Gat>Aat p.D358N OAS1_ENST00000445409.2_Intron|OAS1_ENST00000551241.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA NM_016816.2 NP_058132.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 358 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding p.D358N(2) cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 TGAGACCGACGATCCCAGGAG 0.507000 26 51 0 0 0.139131 0 0 SSPO 23145 broad.mit.edu 37 7 149508066 149508066 + RNA SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:149508066G>T ENST00000378016.2 + 0 9460 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTACCCCCCGGGCAGCACTGT 0.602000 17 4 2.21704e-12 2.62849e-12 0.076483 1 0 SPARC 6678 broad.mit.edu 37 5 151043710 151043710 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:151043710T>G ENST00000231061.4 - 9 1134 c.821A>C c.(820-822)gAc>gCc p.D274A NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 274 EF-hand. ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding p.D274A(1) central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) ATTGTCCAGGTCACAGGTCTC 0.587000 46 66 0 0 0.139131 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709119 176709119 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:176709119C>A ENST00000367662.3 + 14 5102 c.3938C>A c.(3937-3939)aCc>aAc p.T1313N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1313 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.T1313N(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TCTTCAGGAACCTATGGACTG 0.393000 40 111 7.63091e-17 9.53644e-17 0.098360 1 0 ZNF536 9745 broad.mit.edu 37 19 30936282 30936282 + Silent SNP C C A rs141248439 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:30936282C>A ENST00000355537.3 + 2 1960 c.1813C>A c.(1813-1815)Cgg>Agg p.R605R NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 605 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.R605R(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGAAAGCAGTCGGGATTTTTT 0.547000 80 96 5.81834e-28 8.11132e-28 0.139131 1 0 GIN1 54826 broad.mit.edu 37 5 102432295 102432295 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:102432295G>A ENST00000399004.2 - 7 1338 c.1244C>T c.(1243-1245)cCt>cTt p.P415L GIN1_ENST00000508629.1_Intron NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 415 DNA integration DNA binding p.P415L(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) CATTTTGATAGGTCTTTTCAG 0.398000 123 58 0 0 0.139131 0 0 CA7 766 broad.mit.edu 37 16 66880940 66880940 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:66880940G>T ENST00000338437.2 + 2 157 c.48G>T c.(46-48)tcG>tcT p.S16S CA7_ENST00000394069.3_5'UTR|RP11-61A14.1_ENST00000551187.1_RNA NM_005182.2 NP_005173.1 P43166 CAH7_HUMAN carbonic anhydrase VII 16 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding p.S16S(1) kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) CAGGCCCCTCGCATTGGCACA 0.597000 15 29 1.5739e-10 1.80682e-10 0.146539 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64619165 64619165 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:64619165C>G ENST00000498707.1 - 14 2500 c.2158G>C c.(2158-2160)Gtc>Ctc p.V720L ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V692L NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 720 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.V720L(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) AGGCCCTGGACACAGATATCA 0.488000 45 21 0 0 0.117977 0 0 GINS2 51659 broad.mit.edu 37 16 85721135 85721135 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:85721135G>T ENST00000253462.3 - 2 236 c.136C>A c.(136-138)Ctg>Atg p.L46M NM_016095.2 NP_057179.1 Q9Y248 PSF2_HUMAN GINS complex subunit 2 (Psf2 homolog) 46 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle nucleoplasm protein binding p.L46M(1) endometrium(2)|large_intestine(2)|lung(2) 6 GCCAGCCACAGGGGCACTTCC 0.483000 41 67 7.38948e-41 1.10233e-40 0.139131 1 0 TEX15 56154 broad.mit.edu 37 8 30706080 30706080 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:30706080G>T ENST00000256246.2 - 1 528 c.454C>A c.(454-456)Caa>Aaa p.Q152K NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 152 p.Q152K(1) NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AAATTACCTTGGTCCTTACAT 0.448000 45 75 1.7489e-18 2.22924e-18 0.124865 1 0 TENM2 57451 broad.mit.edu 37 5 167553854 167553854 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:167553854G>T ENST00000519204.1 + 11 2060 c.1942G>T c.(1942-1944)Gtg>Ttg p.V648L TENM2_ENST00000518659.1_Missense_Mutation_p.V769L|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.V537L|TENM2_ENST00000403607.2_Missense_Mutation_p.V602L|TENM2_ENST00000545108.1_Missense_Mutation_p.V769L teneurin transmembrane protein 2 p.V648L(1)|p.V602L(1)|p.V769L(1) TGACCAGCGCGTGTGCCACCC 0.602000 7 8 3.86212e-05 4.03683e-05 0.069234 1 0 JOSD2 126119 broad.mit.edu 37 19 51013625 51013625 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:51013625C>G ENST00000598418.1 - 2 317 c.64G>C c.(64-66)Gag>Cag p.E22Q JOSD2_ENST00000595669.1_Missense_Mutation_p.E22Q|JOSD2_ENST00000391815.3_Missense_Mutation_p.E22Q|JOSD2_ENST00000601423.1_Missense_Mutation_p.E22Q NM_001270639.1|NM_001270640.1 NP_001257568.1|NP_001257569.1 Q8TAC2 JOS2_HUMAN Josephin domain containing 2 22 Josephin. protein deubiquitination ubiquitin-specific protease activity p.E22Q(1) kidney(1)|lung(3)|prostate(1) 5 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364) GCACACAGCTCCAGGCGCTGC 0.667000 28 36 0 0 0.246493 0 0 ST6GALNAC4 27090 broad.mit.edu 37 9 130676970 130676970 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:130676970G>C ENST00000335791.5 - 3 438 c.163C>G c.(163-165)Cac>Gac p.H55D ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_5'UTR NM_175039.3 NP_778204.1 Q9H4F1 SIA7D_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 55 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 p.H55D(1) endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 CCACTGAAGTGCAGGGGTCCC 0.652000 4 23 0 0 0.217242 0 0 ALG13 79868 broad.mit.edu 37 X 110996020 110996020 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:110996020A>T ENST00000394780.3 + 25 2947 c.2935A>T c.(2935-2937)Aca>Tca p.T979S ALG13_ENST00000251943.4_Missense_Mutation_p.T796S|ALG13_ENST00000470971.1_3'UTR NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 979 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity p.T796S(1)|p.T301S(1)|p.T979S(1) endometrium(2)|lung(10)|skin(1) 13 AATTTTAGATACAAAAGTTTT 0.323000 17 1 0 0 0.204396 0 0 BCL9L 283149 broad.mit.edu 37 11 118772871 118772871 + Nonsense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:118772871G>C ENST00000334801.3 - 6 2545 c.1581C>G c.(1579-1581)taC>taG p.Y527* BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 527 Necessary for interaction with CTNNB1 (By similarity). negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity p.Y527*(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TCTCTTCGTAGTACTCCTCCT 0.617000 44 74 0 0 0.139131 0 0 CIB4 130106 broad.mit.edu 37 2 26806683 26806683 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:26806683C>T ENST00000288861.4 - 5 465 c.412G>A c.(412-414)Gac>Aac p.D138N CIB4_ENST00000405346.3_5'UTR NM_001029881.1 NP_001025052.1 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 138 EF-hand 3. calcium ion binding p.D138N(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCAGGAGGTCCTCAGACATG 0.562000 58 79 0 0 0.139131 0 0 BAIAP3 8938 broad.mit.edu 37 16 1394604 1394604 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:1394604A>G ENST00000324385.5 + 19 1925 c.1767A>G c.(1765-1767)ccA>ccG p.P589P BAIAP3_ENST00000426824.3_Silent_p.P554P|BAIAP3_ENST00000568887.1_Silent_p.P526P|BAIAP3_ENST00000397488.2_Silent_p.P571P|BAIAP3_ENST00000397489.1_Silent_p.P571P|BAIAP3_ENST00000562208.1_Silent_p.P531P|BAIAP3_ENST00000421665.2_Silent_p.P518P NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 589 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding p.P589P(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CCTTGCAGCCAGGACCACAGC 0.622000 123 190 0 0 0.139131 0 0 WDR75 84128 broad.mit.edu 37 2 190315685 190315685 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:190315685C>T ENST00000314761.4 + 3 333 c.273C>T c.(271-273)atC>atT p.I91I NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 91 nucleolus p.I91I(1) breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TAGATGGCATCTTAATAAAGG 0.289000 53 106 0 0 0.139131 0 0 TPM4 7171 broad.mit.edu 37 19 16204497 16204497 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:16204497G>C ENST00000300933.4 + 7 858 c.598G>C c.(598-600)Gag>Cag p.E200Q TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000538887.1_Missense_Mutation_p.E236Q|TPM4_ENST00000344824.6_Missense_Mutation_p.E236Q NM_003290.2 NP_003281.1 P67936 TPM4_HUMAN tropomyosin 4 200 cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle p.E236Q(1) TPM4/ALK(12) breast(1)|large_intestine(3) 4 TATCTAGGCTGAGACCCGTGC 0.478000 T ALK ALCL 49 151 0 0 0.139131 0 0 LINC00475 158314 broad.mit.edu 37 9 94903903 94903903 + RNA SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:94903903G>C ENST00000416438.2 + 0 155 NR_027341.1 CCGCCATACCGGGGGACCTGG 0.687000 4 8 0 0 0.038147 0 0 FAM208A 23272 broad.mit.edu 37 3 56675595 56675595 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:56675595T>A ENST00000431842.2 - 8 2137 c.1213A>T c.(1213-1215)Act>Tct p.T405S FAM208A_ENST00000493960.2_Missense_Mutation_p.T801S|FAM208A_ENST00000355628.5_Missense_Mutation_p.T801S NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 801 p.T405S(1)|p.T801S(1) NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 GCATCATCAGTGCTCAATCCT 0.428000 34 9 0 0 0.183431 0 0 CWH43 80157 broad.mit.edu 37 4 48996751 48996751 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:48996751C>A ENST00000226432.4 + 5 810 c.627C>A c.(625-627)acC>acA p.T209T CWH43_ENST00000513409.1_Silent_p.T182T NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 209 GPI anchor biosynthetic process integral to membrane p.T209T(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TGTTCCTCACCCACTGGGTTT 0.537000 55 17 2.47907e-22 3.29128e-22 0.139131 1 0 C7orf31 136895 broad.mit.edu 37 7 25194768 25194768 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:25194768G>A ENST00000409280.1 - 6 765 c.457C>T c.(457-459)Cac>Tac p.H153Y C7orf31_ENST00000283905.3_Missense_Mutation_p.H153Y Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 153 p.H153Y(1) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 CGACAGATGTGTGTGTGGTAG 0.498000 16 86 0 0 0.132662 0 0 THRAP3 9967 broad.mit.edu 37 1 36752349 36752349 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:36752349A>T ENST00000354618.5 + 4 742 c.518A>T c.(517-519)aAg>aTg p.K173M THRAP3_ENST00000469141.2_Missense_Mutation_p.K173M NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 173 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.K173M(1) 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) GAATCTTCTAAGCGCAAGTCT 0.522000 T USP6 aneurysmal bone cysts 183 284 0 0 0.139131 0 0 ARID4A 5926 broad.mit.edu 37 14 58820404 58820404 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:58820404G>A ENST00000355431.3 + 17 2057 c.1684G>A c.(1684-1686)Gaa>Aaa p.E562K ARID4A_ENST00000348476.3_Missense_Mutation_p.E562K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E562K|ARID4A_ENST00000553355.1_3'UTR|ARID4A_ENST00000431317.2_Missense_Mutation_p.E562K NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 562 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity p.E562K(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ATGTGACTCTGAAGGAGAGGA 0.368000 27 28 0 0 0.134883 0 0 CTNND1 1500 broad.mit.edu 37 11 57569422 57569422 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:57569422C>T ENST00000524630.1 + 7 1687 c.1174C>T c.(1174-1176)Cac>Tac p.H392Y CTNND1_ENST00000527467.1_Missense_Mutation_p.H69Y|CTNND1_ENST00000531014.1_Missense_Mutation_p.H69Y|CTNND1_ENST00000428599.2_Missense_Mutation_p.H392Y|CTNND1_ENST00000525902.1_Missense_Mutation_p.H69Y|CTNND1_ENST00000529873.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000528232.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000533667.1_Missense_Mutation_p.H69Y|CTNND1_ENST00000399039.4_Missense_Mutation_p.H392Y|CTNND1_ENST00000532649.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000530748.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000361391.6_Missense_Mutation_p.H392Y|CTNND1_ENST00000526357.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000534579.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000529526.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000361796.4_Missense_Mutation_p.H392Y|CTNND1_ENST00000426142.2_Missense_Mutation_p.H291Y|CTNND1_ENST00000532245.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000399050.4_Missense_Mutation_p.H392Y|CTNND1_ENST00000532787.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000530094.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000360682.6_Missense_Mutation_p.H392Y|CTNND1_ENST00000532463.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000529986.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000528621.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000529919.1_Missense_Mutation_p.H392Y|CTNND1_ENST00000358694.6_Missense_Mutation_p.H392Y|CTNND1_ENST00000532844.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000526772.1_Missense_Mutation_p.H69Y|CTNND1_ENST00000415361.2_Missense_Mutation_p.H291Y|CTNND1_ENST00000526938.1_Missense_Mutation_p.H392Y|CTNND1_ENST00000361332.4_Missense_Mutation_p.H392Y O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 392 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding p.H392Y(2) breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) ATACCTGCAACACTTATGCTA 0.522000 55 79 0 0 0.139131 0 0 IL37 27178 broad.mit.edu 37 2 113675249 113675249 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:113675249C>T ENST00000263326.3 + 4 345 c.303C>T c.(301-303)gcC>gcT p.A101A IL37_ENST00000352179.3_Silent_p.A80A|IL37_ENST00000353225.3_Silent_p.A61A|IL37_ENST00000311328.2_Silent_p.A75A|IL37_ENST00000349806.3_Silent_p.A40A NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 101 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding p.A75A(1)|p.A101A(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 TGAGCTCAGCCTCTGCGGAGA 0.493000 167 268 0 0 0.139131 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605336 140605336 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140605336G>T ENST00000239449.4 + 1 2259 c.2259G>T c.(2257-2259)gtG>gtT p.V753V PCDHB14_ENST00000515856.2_Silent_p.V600V NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 753 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.V753V(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATACGAGGTGTGTCTGACAG 0.557000 47 84 1.26005e-42 1.89531e-42 0.139131 1 0 LAMA2 3908 broad.mit.edu 37 6 129663545 129663545 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:129663545G>A ENST00000421865.2 + 30 4418 c.4369G>A c.(4369-4371)Gga>Aga p.G1457R NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1457 Laminin EGF-like 15. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.G1457R(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGGATACTATGGAATTGTCAA 0.383000 40 75 0 0 0.139131 0 0 OR4D9 390199 broad.mit.edu 37 11 59283042 59283042 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:59283042G>T ENST00000329328.3 + 1 657 c.657G>T c.(655-657)acG>acT p.T219T NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T219T(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 TATCTTACACGGTCATCTTGA 0.493000 94 174 7.0627e-44 1.06529e-43 0.139131 1 0 LBP 3929 broad.mit.edu 37 20 36997738 36997738 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:36997738T>A ENST00000217407.2 + 10 1242 c.1081T>A c.(1081-1083)Tat>Aat p.Y361N NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 361 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding p.Y361N(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TGTGGACCCCTATATGGAGAT 0.552000 174 184 0 0 0.139131 0 0 RDH11 51109 broad.mit.edu 37 14 68159752 68159752 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:68159752C>T ENST00000381346.4 - 2 202 c.92G>A c.(91-93)gGg>gAg p.G31E RDH11_ENST00000428130.2_Missense_Mutation_p.G31E|RDH11_ENST00000553384.1_Missense_Mutation_p.G31E NM_001252650.1|NM_016026.3 NP_001239579.1|NP_057110.3 Q8TC12 RDH11_HUMAN retinol dehydrogenase 11 (all-trans/9-cis/11-cis) 31 retinol metabolic process|steroid metabolic process endoplasmic reticulum membrane|integral to membrane binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity p.G31E(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1) 12 all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924) Vitamin A(DB00162) TGTACACACCCCACTGGACAG 0.498000 10 27 0 0 0.080935 0 0 ZNF714 148206 broad.mit.edu 37 19 21300980 21300980 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:21300980G>T ENST00000596143.1 + 5 1835 c.1510G>T c.(1510-1512)Ggc>Tgc p.G504C ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G609C(1)|p.G504C(1) endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 AATTCAgcagggcatggtggc 0.433000 16 14 2.31682e-05 2.43334e-05 0.132662 1 0 SORCS1 114815 broad.mit.edu 37 10 108431096 108431096 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:108431096C>A ENST00000263054.6 - 16 2095 c.2088G>T c.(2086-2088)agG>agT p.R696S SORCS1_ENST00000344440.6_Missense_Mutation_p.R696S|SORCS1_ENST00000369698.1_Missense_Mutation_p.R231S NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 696 integral to membrane neuropeptide receptor activity|protein binding p.R696S(2) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCTTATATATCCTTTTTGCTC 0.443000 51 24 1.39843e-22 1.86801e-22 0.139131 1 0 TRIM49 57093 broad.mit.edu 37 11 89537464 89537464 + Silent SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:89537464T>A ENST00000329758.1 - 3 502 c.174A>T c.(172-174)tcA>tcT p.S58S TRIM49_ENST00000532501.2_Silent_p.S58S NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 58 intracellular zinc ion binding p.S58Y(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TCTGCTCGGTTGACTTTGTGC 0.468000 44 102 0 0 0.111260 0 0 DGKB 1607 broad.mit.edu 37 7 14216479 14216479 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:14216479C>G ENST00000403951.2 - 25 2711 c.2292G>C c.(2290-2292)atG>atC p.M764I DGKB_ENST00000402815.1_Missense_Mutation_p.M763I|DGKB_ENST00000406247.3_Missense_Mutation_p.M764I|DGKB_ENST00000258767.5_Missense_Mutation_p.M764I|DGKB_ENST00000407950.1_Missense_Mutation_p.M756I|DGKB_ENST00000399322.3_Missense_Mutation_p.M764I|DGKB_ENST00000444700.2_Missense_Mutation_p.M745I Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 764 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|protein binding p.M764I(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) ATGGGGTCTGCATCCATGGCT 0.388000 79 106 0 0 0.139131 0 0 KLHL1 57626 broad.mit.edu 37 13 70514361 70514361 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:70514361C>A ENST00000377844.4 - 4 1584 c.825G>T c.(823-825)ttG>ttT p.L275F KLHL1_ENST00000545028.1_Missense_Mutation_p.L82F NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 275 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.L275F(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTTTTAATTCCAAGCAGCCTA 0.393000 7 14 0.0381472 0.0383947 0.038147 1 0 ERBB4 2066 broad.mit.edu 37 2 212288914 212288914 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:212288914G>T ENST00000342788.4 - 23 3142 c.2832C>A c.(2830-2832)atC>atA p.I944I ERBB4_ENST00000436443.1_Silent_p.I944I|ERBB4_ENST00000402597.1_Silent_p.I934I NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 944 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.I944I(1) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CAATAGTGCAGATGGGAGGCT 0.398000 TSP Lung(8;0.080) 21 38 4.47668e-21 5.83634e-21 0.091800 1 0 FLCN 201163 broad.mit.edu 37 17 17127348 17127348 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:17127348C>T ENST00000285071.4 - 6 960 c.506G>A c.(505-507)tGg>tAg p.W169* FLCN_ENST00000389169.5_Nonsense_Mutation_p.W169*|RP11-45M22.4_ENST00000427497.3_Intron NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin 169 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding p.W169*(2) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GATGCTGTACCAGCGCTGGAA 0.587000 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome 22 6 0 0 0.108266 0 0 EFTUD1 79631 broad.mit.edu 37 15 82422766 82422766 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:82422766T>A ENST00000268206.7 - 20 3479 c.3311A>T c.(3310-3312)gAa>gTa p.E1104V EFTUD1_ENST00000359445.3_Missense_Mutation_p.E1053V NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 1104 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity p.E1104V(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 CACAATCTTTTCTTCCACATA 0.438000 40 61 0 0 0.117977 0 0 OBSCN 84033 broad.mit.edu 37 1 228481316 228481316 + Splice_Site SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:228481316G>C ENST00000570156.2 + 46 12491 c.12418_splice c.e46+1 p.R4139_splice OBSCN_ENST00000422127.1_Splice_Site_p.R3710_splice|OBSCN_ENST00000284548.11_Splice_Site_p.R3710_splice|OBSCN_ENST00000366709.4_Splice_Site_p.R829_splice|OBSCN_ENST00000366707.4_Splice_Site_p.R829_splice|OBSCN_ENST00000359599.6_Splice_Site_p.R2557_splice NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3181 Ig-like 42. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.R3710S(1)|p.R3764S(1)|p.R3993S(1)|p.R3894S(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCACCGTCAGGGGTAAAGGCC 0.607000 20 51 0 0 0.083992 0 0 SRD5A2 6716 broad.mit.edu 37 2 31805958 31805958 + RNA SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:31805958C>A ENST00000405650.1 - 0 178 P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) TCTGCTGGCACTGAACCTGCA 0.687000 10 16 2.27111e-07 2.48381e-07 0.093190 1 0 CSMD2 114784 broad.mit.edu 37 1 34049279 34049279 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:34049279G>A ENST00000373381.4 - 47 7379 c.7203C>T c.(7201-7203)ctC>ctT p.L2401L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2403 CUB 14. integral to membrane|plasma membrane protein binding p.L2403L(1) 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) GCTTCTCGCTGAGGAAGTACT 0.507000 67 124 0 0 0.139131 0 0 IRS4 8471 broad.mit.edu 37 X 107976561 107976561 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:107976561G>T ENST00000372129.2 - 1 3090 c.3014C>A c.(3013-3015)aCa>aAa p.T1005K NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 1005 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity p.T1005K(1) NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 ATTGCTACCTGTAGCACTGAG 0.493000 95 108 4.66267e-56 7.24415e-56 0.139131 1 0 ALDH1B1 219 broad.mit.edu 37 9 38396249 38396249 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:38396249C>G ENST00000377698.3 + 2 657 c.504C>G c.(502-504)ttC>ttG p.F168L NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 168 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity p.F168L(1) NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GCCAGCATTTCTGCTTCACCC 0.577000 16 104 0 0 0.160694 0 0 TTC22 55001 broad.mit.edu 37 1 55253465 55253465 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:55253465C>A ENST00000371276.4 - 3 761 c.658G>T c.(658-660)Gag>Tag p.E220* TTC22_ENST00000371274.4_Nonsense_Mutation_p.E220* NM_001114108.1 NP_001107580.1 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 220 binding p.E219_E220>D*(2) kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 CTCTTCTGCTCCTCACTGCCC 0.662000 6 13 0.000274275 0.00028422 0.047766 1 0 KIAA0141 9812 broad.mit.edu 37 5 141303535 141303535 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:141303535G>A ENST00000432126.2 + 1 163 c.29G>A c.(28-30)cGa>cAa p.R10Q KIAA0141_ENST00000194118.4_Missense_Mutation_p.R10Q NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 10 apoptosis|regulation of caspase activity mitochondrion protein binding p.R10Q(1) endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCTGGGCCGAGGTAAGGGA 0.667000 5 6 0 0 0.029380 0 0 SHANK1 50944 broad.mit.edu 37 19 51219627 51219627 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:51219627G>T ENST00000293441.1 - 2 382 c.364C>A c.(364-366)Ccg>Acg p.P122T SHANK1_ENST00000359082.3_Missense_Mutation_p.P122T|SHANK1_ENST00000391814.1_Missense_Mutation_p.P122T NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 122 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding p.P122T(1) breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GAGGTGGCCGGTTGGAACAGG 0.632000 29 11 4.00102e-26 5.45183e-26 0.235728 1 0 CADM1 23705 broad.mit.edu 37 11 115069138 115069138 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:115069138G>C ENST00000537058.1 - 9 1119 c.1099C>G c.(1099-1101)Cca>Gca p.P367A CADM1_ENST00000452722.2_Intron|CADM1_ENST00000331581.6_Missense_Mutation_p.P367A|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Missense_Mutation_p.P339A|CADM1_ENST00000537140.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 359 adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TGAACTGCTGGTTCTGTCGTC 0.458000 3 13 0 0 0.184627 0 0 LINC00521 256369 broad.mit.edu 37 14 94464536 94464536 + RNA SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:94464536G>T ENST00000444118.1 + 0 216 NR_024182.1 p.G17M(1) GACAAGGAAGGGGACCTTCAA 0.617000 17 40 2.54575e-18 3.23355e-18 0.219247 1 0 CLTCL1 8218 broad.mit.edu 37 22 19171032 19171032 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:19171032G>A ENST00000263200.10 - 30 4770 c.4698C>T c.(4696-4698)ttC>ttT p.F1566F CLTCL1_ENST00000427926.1_Silent_p.F1566F|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Silent_p.F1509F NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1566 Heavy chain arm.|Proximal segment.|Trimerization (By similarity). anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity p.F1566F(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GACAAGCTGCGAAGCACTCCC 0.597000 T ? ALCL 19 38 0 0 0.219247 0 0 OR10A5 144124 broad.mit.edu 37 11 6867641 6867641 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:6867641C>A ENST00000299454.4 + 1 759 c.728C>A c.(727-729)tCc>tAc p.S243Y OR10A5_ENST00000379831.2_Missense_Mutation_p.S247Y Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S243Y(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCTACGTGCTCCTCACACCTC 0.438000 112 193 4.73232e-52 7.24867e-52 0.139131 1 0 KIAA1429 25962 broad.mit.edu 37 8 95539314 95539314 + Silent SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:95539314T>A ENST00000297591.5 - 8 1233 c.1158A>T c.(1156-1158)acA>acT p.T386T KIAA1429_ENST00000437199.1_Silent_p.T386T|KIAA1429_ENST00000421249.2_Silent_p.T386T NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 386 mRNA processing|RNA splicing nucleus p.T386T(1) 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) CTAAGAGTTCTGTTAACTTCA 0.343000 91 112 0 0 0.139131 0 0 PRPF8 10594 broad.mit.edu 37 17 1563786 1563786 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:1563786C>A ENST00000572621.1 - 29 4990 c.4725G>T c.(4723-4725)caG>caT p.Q1575H PRPF8_ENST00000304992.6_Missense_Mutation_p.Q1575H Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1575 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding p.Q1575H(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CTCGGAAGATCTGGATGAGAG 0.512000 267 66 6.16129e-102 9.73969e-102 0.139131 1 0 SCAND3 114821 broad.mit.edu 37 6 28543098 28543098 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:28543098C>A ENST00000452236.2 - 3 2001 c.1384G>T c.(1384-1386)Ggg>Tgg p.G462W NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 462 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.G462W(1) NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TGAGACTTCCCATGGACAATT 0.448000 32 32 1.88708e-17 2.38022e-17 0.134883 1 0 RIMBP2 23504 broad.mit.edu 37 12 130919333 130919333 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:130919333C>A ENST00000261655.4 - 11 2311 c.2148G>T c.(2146-2148)aaG>aaT p.K716N RIMBP2_ENST00000535703.1_Missense_Mutation_p.K624N|RIMBP2_ENST00000536002.1_Missense_Mutation_p.K624N NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 716 cell junction|synapse p.K716N(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CGCCCCTCCTCTTGAAGTCTG 0.622000 64 78 6.07242e-22 8.00322e-22 0.139131 1 0 NLGN4X 57502 broad.mit.edu 37 X 5827225 5827225 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:5827225C>A ENST00000381095.3 - 4 1308 c.681G>T c.(679-681)caG>caT p.Q227H NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q227H|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q247H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q227H|NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q227H NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 227 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 p.Q227H(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GTGCTTGAATCTGATCCAGGA 0.512000 56 8 2.01871e-26 2.76111e-26 0.139131 1 0 PNLIP 5406 broad.mit.edu 37 10 118313238 118313238 + Splice_Site SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:118313238G>A ENST00000369221.2 + 6 487 c.e6-1 NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity p.?(2) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) CTTTCCGACAGTCGGCGTTCG 0.488000 25 8 0 0 0.134883 0 0 BAGE2 85319 broad.mit.edu 37 21 11049568 11049568 + RNA SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr21:11049568G>T ENST00000470054.1 - 0 540 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAAAAGAACTGATCTAAGAGG 0.413000 9 147 0.00136819 0.0014044 0.093190 1 0 SLC7A10 56301 broad.mit.edu 37 19 33716539 33716539 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:33716539G>A ENST00000253188.3 - 1 217 c.71C>T c.(70-72)cCa>cTa p.P24L NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 24 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity p.P24L(1) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) GACGGTCCCTGGGACTGGGGA 0.751000 9 9 0 0 0.080935 0 0 PCDH20 64881 broad.mit.edu 37 13 61987001 61987001 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:61987001T>A ENST00000409186.1 - 5 3336 c.1231A>T c.(1231-1233)Act>Tct p.T411S PCDH20_ENST00000409204.4_Missense_Mutation_p.T411S Q8N6Y1 PCD20_HUMAN protocadherin 20 384 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T384S(1)|p.T411S(1) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) ACAAGAGCAGTGATTACAGCA 0.428000 88 29 0 0 0.139131 0 0 ASNA1 439 broad.mit.edu 37 19 12858371 12858371 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:12858371G>T ENST00000591090.1 + 7 982 c.880G>T c.(880-882)Gcc>Tcc p.A294S ASNA1_ENST00000357332.3_Missense_Mutation_p.A294S O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) 294 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding p.A294S(1) endometrium(1)|lung(6)|ovary(3) 10 Adenosine triphosphate(DB00171) GATGTGTGAGGCCCGTCACAA 0.552000 12 32 5.50884e-06 5.86529e-06 0.093190 1 0 DPP10 57628 broad.mit.edu 37 2 116525913 116525913 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:116525913T>C ENST00000410059.1 + 13 1634 c.1154T>C c.(1153-1155)tTt>tCt p.F385S DPP10_ENST00000393147.2_Missense_Mutation_p.F389S|DPP10_ENST00000409163.1_Missense_Mutation_p.F335S|DPP10_ENST00000310323.8_Missense_Mutation_p.F378S NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 385 proteolysis integral to membrane|membrane fraction serine-type peptidase activity p.F385S(1)|p.F378S(1) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AGCAAATTCTTTATGACAGTG 0.448000 18 26 0 0 0.069288 0 0 CBR4 84869 broad.mit.edu 37 4 169923276 169923276 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:169923276C>A ENST00000306193.3 - 4 649 c.481G>T c.(481-483)Gct>Tct p.A161S CBR4_ENST00000509108.1_5'UTR|CBR4_ENST00000504480.1_Missense_Mutation_p.A161S NM_032783.4 NP_116172.2 Q8N4T8 CBR4_HUMAN carbonyl reductase 4 161 fatty acid biosynthetic process|protein homotetramerization mitochondrial matrix NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding p.A161S(1) kidney(1)|large_intestine(2)|lung(2) 5 Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123) GBM - Glioblastoma multiforme(119;0.0321) TTAGCAAGAGCACGTGAAAAT 0.348000 16 28 1.33834e-09 1.51085e-09 0.189662 1 0 SEC16A 9919 broad.mit.edu 37 9 139368707 139368707 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:139368707T>C ENST00000313050.7 - 1 3434 c.3361A>G c.(3361-3363)Agc>Ggc p.S1121G SEC16A_ENST00000290037.6_Missense_Mutation_p.S943G|SEC16A_ENST00000431893.2_Missense_Mutation_p.S943G|SEC16A_ENST00000371706.3_Missense_Mutation_p.S943G NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 943 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane p.S1121G(2) breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) AGAGACACGCTAGAGGACTGA 0.682000 7 9 0 0 0.105934 0 0 CHST15 51363 broad.mit.edu 37 10 125801930 125801930 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:125801930C>A ENST00000346248.5 - 4 1562 c.920G>T c.(919-921)cGc>cTc p.R307L CHST15_ENST00000421115.1_Missense_Mutation_p.R307L|CHST15_ENST00000435907.1_Missense_Mutation_p.R307L NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 307 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity p.R307L(2) endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 CACGGGATAGCGGTCTCGCAG 0.542000 30 18 1.61788e-16 2.01262e-16 0.163468 1 0 SLC25A46 91137 broad.mit.edu 37 5 110083920 110083920 + Silent SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:110083920A>C ENST00000355943.3 + 5 645 c.519A>C c.(517-519)acA>acC p.T173T SLC25A46_ENST00000513807.1_Silent_p.T11T|SLC25A46_ENST00000509442.2_Silent_p.T82T|SLC25A46_ENST00000447245.2_Silent_p.T173T|SLC25A46_ENST00000504098.1_Silent_p.T27T NM_138773.1 NP_620128.1 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 173 transport integral to membrane|mitochondrial inner membrane p.T173T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) AGGGAGTCACACTTGGAGCAG 0.368000 31 15 0 0 0.225048 0 0 TPR 7175 broad.mit.edu 37 1 186306192 186306192 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:186306192C>A ENST00000367478.3 - 32 4755 c.4459G>T c.(4459-4461)Gaa>Taa p.E1487* NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1487 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.E1488*(1)|p.E1487*(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GATTTTGTTTCAGCTTGGTTG 0.423000 T NTRK1 papillary thyroid 61 50 1.48873e-21 1.95733e-21 0.139131 1 0 SLC4A1AP 22950 broad.mit.edu 37 2 27886959 27886959 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:27886959G>A ENST00000326019.6 + 1 622 c.340G>A c.(340-342)Ggg>Agg p.G114R NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 114 SNSGE -> PIAKP (in Ref. 6; AAN12269). cytoplasm|nucleus double-stranded RNA binding|protein binding p.G114R(1) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) CTCCAATTCTGGGGAGCCCGA 0.642000 59 67 0 0 0.139131 0 0 ABCC12 94160 broad.mit.edu 37 16 48119591 48119591 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:48119591C>A ENST00000311303.3 - 27 4086 c.3741G>T c.(3739-3741)caG>caT p.Q1247H ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR|ABCC12_ENST00000416054.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1247 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.Q1247H(1) NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TGACTTCTGCCTGTAATTTTT 0.403000 85 127 7.74691e-53 1.19335e-52 0.139131 1 0 PLCB4 5332 broad.mit.edu 37 20 9382220 9382220 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:9382220G>T ENST00000378501.2 + 17 1609 c.1594G>T c.(1594-1596)Gca>Tca p.A532S PLCB4_ENST00000378473.3_Missense_Mutation_p.A532S|PLCB4_ENST00000334005.3_Missense_Mutation_p.A532S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.A532S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A532S|PLCB4_ENST00000378493.1_Missense_Mutation_p.A532S NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 532 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.A532S(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GGAAGCTGTTGCAAATAGCGT 0.423000 14 15 7.07596e-05 7.38184e-05 0.175082 1 0 OR2T27 403239 broad.mit.edu 37 1 248813331 248813331 + Silent SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:248813331G>C ENST00000344889.3 - 1 854 c.855C>G c.(853-855)ctC>ctG p.L285L NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L285L(1) breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGAGTGGATTGAGCATGGGAG 0.502000 16 62 0 0 0.204396 0 0 OR2M3 127062 broad.mit.edu 37 1 248366960 248366960 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:248366960G>T ENST00000456743.1 + 1 629 c.591G>T c.(589-591)aaG>aaT p.K197N NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K197N(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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) TATTTGAAAAGATTCTTTTCA 0.428000 241 183 9.11149e-109 1.44454e-108 0.139131 1 0 DBT 1629 broad.mit.edu 37 1 100696436 100696436 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:100696436C>G ENST00000370132.3 - 4 299 c.286G>C c.(286-288)Gat>Cat p.D96H DBT_ENST00000370131.3_Missense_Mutation_p.D96H NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 96 Lipoyl-binding. branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding p.D96H(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) CAGATGCTATCAAACTGAGAC 0.323000 8 40 0 0 0.069234 0 0 LSAMP 4045 broad.mit.edu 37 3 115805239 115805239 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:115805239C>A ENST00000490035.1 - 2 819 c.320G>T c.(319-321)gGt>gTt p.G107V LSAMP_ENST00000539563.1_Missense_Mutation_p.G104V NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 107 Ig-like C2-type 1. cell adhesion|nervous system development anchored to membrane|plasma membrane p.G107V(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) AGTGTAGGAACCCTCATCATA 0.502000 44 17 1.23713e-20 1.60708e-20 0.139131 1 0 ESYT3 83850 broad.mit.edu 37 3 138191516 138191516 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:138191516T>G ENST00000389567.4 + 18 2238 c.2052T>G c.(2050-2052)agT>agG p.S684R NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 684 integral to membrane|plasma membrane p.S684R(1) breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 AGAAGAAGAGTCCAGCCACCA 0.602000 38 115 0 0 0.104719 0 0 PRSS21 10942 broad.mit.edu 37 16 2871586 2871586 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:2871586C>T ENST00000455114.1 + 6 1025 c.919C>T c.(919-921)Cca>Tca p.P307S PRSS21_ENST00000450020.3_Missense_Mutation_p.P295S|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Missense_Mutation_p.P309S NM_001270452.1|NM_006799.3|NM_144956.2 NP_001257381.1|NP_006790.1|NP_659205.1 Q9Y6M0 TEST_HUMAN protease, serine, 21 (testisin) 309 proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity p.P309S(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 15 CTGGGCTCTCCCACTCCTGGG 0.587000 41 69 0 0 0.139131 0 0 TNNI2 7136 broad.mit.edu 37 11 1861882 1861882 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:1861882T>A ENST00000381906.1 + 5 251 c.182T>A c.(181-183)gTg>gAg p.V61E TNNI2_ENST00000381905.3_Missense_Mutation_p.V61E|TNNI2_ENST00000252898.7_Missense_Mutation_p.V61E|TNNI2_ENST00000381911.1_Missense_Mutation_p.V61E NM_001145829.1 NP_001139301.1 P48788 TNNI2_HUMAN troponin I type 2 (skeletal, fast) 61 muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding p.V61E(1) lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ATGTCTGAAGTGCAGGTACCA 0.657000 13 22 0 0 0.160694 0 0 OR2A12 346525 broad.mit.edu 37 7 143792896 143792896 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:143792896C>A ENST00000408949.2 + 1 756 c.696C>A c.(694-696)ggC>ggA p.G232G NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G232G(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) CTGGGGAGGGCCGCAGAAAGG 0.587000 106 149 4.55152e-58 7.08159e-58 0.139131 1 0 UPK1B 7348 broad.mit.edu 37 3 118905622 118905622 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:118905622C>A ENST00000264234.3 + 2 183 c.34C>A c.(34-36)Cag>Aag p.Q12K UPK1B_ENST00000497685.1_Intron|UPK1B_ENST00000460625.1_Missense_Mutation_p.Q12K|RP11-484M3.5_ENST00000490594.1_Intron NM_006952.3 NP_008883.2 O75841 UPK1B_HUMAN uroplakin 1B 12 epithelial cell differentiation integral to membrane structural molecule activity p.Q12K(1) breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 14 GBM - Glioblastoma multiforme(114;0.222) TCGTTGCTTCCAGGGCCTGCT 0.388000 39 105 7.63091e-17 9.53644e-17 0.098360 1 0 KIF2B 84643 broad.mit.edu 37 17 51900958 51900958 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:51900958G>T ENST00000268919.4 + 1 720 c.564G>T c.(562-564)atG>atT p.M188I NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 188 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.M188I(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ACGAAATCATGCACATGATCG 0.582000 14 114 3.27435e-08 3.62113e-08 0.119110 1 0 AVPR1B 553 broad.mit.edu 37 1 206225092 206225092 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:206225092T>C ENST00000367126.4 + 1 1117 c.652T>C c.(652-654)Tgc>Cgc p.C218R NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 218 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity p.C218R(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) GCTCACGGCCTGCTACAGCCT 0.617000 46 114 0 0 0.139131 0 0 OR52N5 390075 broad.mit.edu 37 11 5799839 5799839 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:5799839C>T ENST00000317093.2 - 1 58 c.26G>A c.(25-27)tGg>tAg p.W9* TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W9*(1) endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 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) TGTTGGAAACCAGCATAATGA 0.353000 27 59 0 0 0.099896 0 0 DDX18 8886 broad.mit.edu 37 2 118579625 118579625 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:118579625G>T ENST00000263239.2 + 6 1067 c.939G>T c.(937-939)ctG>ctT p.L313L DDX18_ENST00000474694.1_3'UTR NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 313 Helicase ATP-binding. ATP binding|ATP-dependent RNA helicase activity|RNA binding p.D314Y(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GCCGTCTGCTGGACCATATGC 0.418000 42 74 1.48734e-19 1.90702e-19 0.131918 1 0 GLUL 2752 broad.mit.edu 37 1 182355522 182355522 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:182355522T>A ENST00000311223.5 - 5 1240 c.344A>T c.(343-345)cAc>cTc p.H115L GLUL_ENST00000339526.4_Missense_Mutation_p.H115L|GLUL_ENST00000331872.6_Missense_Mutation_p.H115L|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.H115L NM_002065.5 NP_002056.2 P15104 GLNA_HUMAN glutamate-ammonia ligase 115 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding p.H115L(1) endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) TTTACAGGTGTGCCTCAAATT 0.483000 81 238 0 0 0.139131 0 0 RBL2 5934 broad.mit.edu 37 16 53513070 53513070 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:53513070C>A ENST00000262133.6 + 18 2845 c.2708C>A c.(2707-2709)aCa>aAa p.T903K RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 903 Domain B.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.T903K(1) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TGCCAGGTCACAAAAGAAGAT 0.458000 7 55 8.12818e-05 8.47141e-05 0.029380 1 0 PDE1C 5137 broad.mit.edu 37 7 31864497 31864497 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:31864497C>A ENST00000396184.3 - 14 1594 c.1390G>T c.(1390-1392)Gga>Tga p.G464* PDE1C_ENST00000396193.1_Nonsense_Mutation_p.G524*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.G464*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.G464*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.G464* NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 464 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.G464*(2)|p.G464R(2)|p.G524*(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CGCCTCTGTCCTGTCCCACCA 0.512000 53 70 2.30037e-20 2.98114e-20 0.139131 1 0 YY1AP1 55249 broad.mit.edu 37 1 155629693 155629693 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:155629693T>C ENST00000368340.5 - 10 2470 c.2362A>G c.(2362-2364)Act>Gct p.T788A YY1AP1_ENST00000355499.4_Missense_Mutation_p.T670A|YY1AP1_ENST00000361831.5_Missense_Mutation_p.T659A|YY1AP1_ENST00000368339.5_Missense_Mutation_p.T808A|YY1AP1_ENST00000404643.1_Missense_Mutation_p.T650A|YY1AP1_ENST00000407221.1_Missense_Mutation_p.T639A|YY1AP1_ENST00000359205.5_Missense_Mutation_p.T659A|YY1AP1_ENST00000368330.2_Missense_Mutation_p.T670A|YY1AP1_ENST00000535662.1_Missense_Mutation_p.T516A|YY1AP1_ENST00000295566.4_Missense_Mutation_p.T716A|YY1AP1_ENST00000347088.5_Missense_Mutation_p.T670A|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.T639A NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GGGAAAACAGTAGCAGAGAGA 0.507000 3 213 0 0 0.115264 0 0 EPHX2 2053 broad.mit.edu 37 8 27373877 27373877 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:27373877T>G ENST00000521400.1 + 8 1302 c.872T>G c.(871-873)aTg>aGg p.M291R EPHX2_ENST00000517536.1_Missense_Mutation_p.M108R|EPHX2_ENST00000380476.3_Missense_Mutation_p.M238R|EPHX2_ENST00000518379.1_Missense_Mutation_p.M259R|EPHX2_ENST00000521780.1_Missense_Mutation_p.M225R NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 291 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) GTCCTAGCTATGGACATGAAA 0.567000 OREG0018668 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 408 0 0 0.217242 0 0 ANO6 196527 broad.mit.edu 37 12 45744489 45744489 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:45744489G>T ENST00000320560.8 + 7 997 c.795G>T c.(793-795)cgG>cgT p.R265R ANO6_ENST00000423947.3_Silent_p.R286R|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Silent_p.R247R|ANO6_ENST00000435642.1_Silent_p.R265R|ANO6_ENST00000425752.2_Silent_p.R265R NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 265 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity p.R265R(2) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CTAATGAACGGTACCTTCTGT 0.493000 16 29 3.32936e-07 3.6302e-07 0.175082 1 0 TUB 7275 broad.mit.edu 37 11 8122429 8122429 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:8122429G>A ENST00000305253.4 + 12 1678 c.1437G>A c.(1435-1437)gaG>gaA p.E479E TUB_ENST00000534099.1_Silent_p.E430E|TUB_ENST00000299506.2_Silent_p.E424E NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 424 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane p.E479E(1) breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) GTATCATCGAGCTGCAAAACA 0.547000 57 74 0 0 0.139131 0 0 TMEM71 137835 broad.mit.edu 37 8 133771110 133771110 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:133771110G>C ENST00000356838.3 - 2 158 c.16C>G c.(16-18)Caa>Gaa p.Q6E TMEM71_ENST00000523829.1_Missense_Mutation_p.Q6E|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.Q6E NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 6 integral to membrane p.Q6E(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GACATCAGTTGAGATATTCGG 0.348000 32 102 0 0 0.098360 0 0 FGR 2268 broad.mit.edu 37 1 27943704 27943704 + Splice_Site SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:27943704C>A ENST00000374005.3 - 6 820 c.532_splice c.e6+1 p.G178_splice FGR_ENST00000374004.1_Splice_Site_p.G178_splice|FGR_ENST00000545953.1_Intron|FGR_ENST00000399173.1_Splice_Site_p.G178_splice NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 178 SH2. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity p.G178C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCACCCCTACCTTTGGTGGTC 0.602000 53 66 4.33383e-22 5.73269e-22 0.139131 1 0 GPR112 139378 broad.mit.edu 37 X 135433701 135433701 + Splice_Site SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:135433701G>T ENST00000394143.1 + 7 7113 c.e7+1 GPR112_ENST00000412101.1_Splice_Site|GPR112_ENST00000394141.1_Splice_Site|GPR112_ENST00000370652.1_Splice_Site|GPR112_ENST00000287534.4_Intron NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.?(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGAAAATTCGGTAAAATAATC 0.274000 13 18 6.81908e-15 8.31147e-15 0.119110 1 0 TBC1D31 93594 broad.mit.edu 37 8 124132407 124132407 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:124132407G>C ENST00000287380.1 + 11 1639 c.1549G>C c.(1549-1551)Gaa>Caa p.E517Q TBC1D31_ENST00000378080.2_Missense_Mutation_p.E412Q|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E394Q|TBC1D31_ENST00000522420.1_Missense_Mutation_p.E412Q|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E150Q|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E517Q|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E517Q NM_145647.3 NP_663622.2 TBC1 domain family, member 31 p.E517Q(1) CATCTGTTTTGAAGTTATTGC 0.333000 6 7 0 0 0.029380 0 0 TBC1D15 64786 broad.mit.edu 37 12 72266764 72266764 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:72266764G>A ENST00000550746.1 + 3 249 c.185G>A c.(184-186)aGt>aAt p.S62N TBC1D15_ENST00000319106.8_Missense_Mutation_p.S70N|TBC1D15_ENST00000485960.2_Missense_Mutation_p.S62N|TBC1D15_ENST00000393309.3_5'UTR NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 62 protein binding|Rab GTPase activator activity p.S70N(1)|p.S62N(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GATTCCTCTAGTATTCTCTAT 0.299000 35 52 0 0 0.104719 0 0 ODF3L2 284451 broad.mit.edu 37 19 474645 474645 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:474645A>T ENST00000315489.4 - 1 338 c.103T>A c.(103-105)Tgt>Agt p.C35S ODF3L2_ENST00000382696.3_Missense_Mutation_p.C35S NM_182577.2 NP_872383.1 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 35 p.C35S(1) large_intestine(1)|lung(2) 3 GCCGTCCCACAGGACTTCCTC 0.672000 8 8 0 0 0.105934 0 0 NOL4 8715 broad.mit.edu 37 18 31432983 31432983 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:31432983G>A ENST00000261592.5 - 11 2037 c.1740C>T c.(1738-1740)agC>agT p.S580S NOL4_ENST00000535475.1_Silent_p.S361S|NOL4_ENST00000269185.4_Silent_p.S364S|NOL4_ENST00000589544.1_Silent_p.S478S|NOL4_ENST00000535384.1_Silent_p.S295S|NOL4_ENST00000538587.1_Silent_p.S506S NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 580 nucleolus RNA binding p.S580S(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GTCTCTTCATGCTGAGATCAG 0.418000 18 28 0 0 0.204396 0 0 DMD 1756 broad.mit.edu 37 X 32867855 32867855 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:32867855C>T ENST00000357033.4 - 3 382 c.176G>A c.(175-177)gGg>gAg p.G59E DMD_ENST00000378677.2_Missense_Mutation_p.G55E|DMD_ENST00000288447.4_Missense_Mutation_p.G51E NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 59 Actin-binding.|CH 1. Missing (in BMD). 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 p.G55E(1)|p.G54E(1)|p.G59E(1) 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) CAGTTTTTGCCCTGTCAGGCC 0.383000 49 1 0 0 0.139131 0 0 PTPRD 5789 broad.mit.edu 37 9 8521381 8521381 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:8521381C>G ENST00000381196.4 - 17 1400 c.857G>C c.(856-858)aGa>aCa p.R286T PTPRD_ENST00000537002.1_Missense_Mutation_p.R283T|PTPRD_ENST00000358503.5_Missense_Mutation_p.R273T|PTPRD_ENST00000355233.5_Missense_Mutation_p.R286T|PTPRD_ENST00000397617.3_Missense_Mutation_p.R276T|PTPRD_ENST00000486161.1_Missense_Mutation_p.R286T|PTPRD_ENST00000356435.5_Missense_Mutation_p.R286T|PTPRD_ENST00000540109.1_Missense_Mutation_p.R286T|PTPRD_ENST00000360074.4_Missense_Mutation_p.R273T|PTPRD_ENST00000397606.3_Missense_Mutation_p.R276T|PTPRD_ENST00000397611.3_Missense_Mutation_p.R283T NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 286 Ig-like C2-type 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R286T(4) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TAGCACATTTCTTCCTATTGG 0.443000 TSP Lung(15;0.13) 38 50 0 0 0.246493 0 0 UBE4A 9354 broad.mit.edu 37 11 118243384 118243384 + Nonsense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:118243384G>T ENST00000431736.2 + 6 796 c.724G>T c.(724-726)Gag>Tag p.E242* UBE4A_ENST00000252108.3_Intron Q14139 UBE4A_HUMAN ubiquitination factor E4A 240 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding p.E242*(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GGGAGCCCGTGAGTACATGAA 0.393000 63 63 2.79145e-41 4.1699e-41 0.139131 1 0 HEPACAM2 253012 broad.mit.edu 37 7 92844989 92844989 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:92844989G>C ENST00000394468.2 - 3 517 c.440C>G c.(439-441)aCa>aGa p.T147R HEPACAM2_ENST00000440868.1_Missense_Mutation_p.T135R|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.T170R|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.T135R NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 147 integral to membrane p.T135R(1)|p.T147R(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 CACTGGCTTTGTGACAGGATC 0.443000 10 37 0 0 0.080935 0 0 NR3C1 2908 broad.mit.edu 37 5 142780341 142780341 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:142780341C>A ENST00000343796.2 - 2 1057 c.64G>T c.(64-66)Gag>Tag p.E22* NR3C1_ENST00000504572.1_Nonsense_Mutation_p.E22*|NR3C1_ENST00000424646.2_Nonsense_Mutation_p.E22*|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Nonsense_Mutation_p.E22*|NR3C1_ENST00000503201.1_Nonsense_Mutation_p.E22*|NR3C1_ENST00000415690.2_Nonsense_Mutation_p.E22*|NR3C1_ENST00000231509.3_Nonsense_Mutation_p.E22*|NR3C1_ENST00000394466.2_Nonsense_Mutation_p.E22* NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 22 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding p.E22*(2) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TCTCCCCTCTCCTGAGCAAGC 0.448000 28 56 3.65163e-15 4.49113e-15 0.116897 1 0 PPP1R7 5510 broad.mit.edu 37 2 242097260 242097260 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:242097260C>G ENST00000234038.6 + 3 694 c.220C>G c.(220-222)Ctg>Gtg p.L74V PPP1R7_ENST00000407025.1_Missense_Mutation_p.L74V|PPP1R7_ENST00000406106.3_Missense_Mutation_p.L74V|PPP1R7_ENST00000272983.8_Missense_Mutation_p.L31V|PPP1R7_ENST00000404405.3_Missense_Mutation_p.L74V|PPP1R7_ENST00000402734.1_Missense_Mutation_p.L15V|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Missense_Mutation_p.L31V NM_002712.1 NP_002703.1 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 74 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity p.L74V(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) AACCATCAACCTGGACAGAGA 0.468000 12 12 0 0 0.175082 0 0 TTC22 55001 broad.mit.edu 37 1 55253466 55253466 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:55253466C>A ENST00000371276.4 - 3 760 c.657G>T c.(655-657)gaG>gaT p.E219D TTC22_ENST00000371274.4_Missense_Mutation_p.E219D NM_001114108.1 NP_001107580.1 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 219 binding p.E219_E220>D*(2) kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 TCTTCTGCTCCTCACTGCCCA 0.662000 8 11 0.000673444 0.000693232 0.069234 1 0 STMN3 50861 broad.mit.edu 37 20 62275217 62275217 + Silent SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:62275217A>C ENST00000370053.1 - 3 264 c.183T>G c.(181-183)ccT>ccG p.P61P STMN3_ENST00000540534.1_Silent_p.P50P NM_001276310.1|NM_015894.2 NP_001263239.1|NP_056978.2 Q9NZ72 STMN3_HUMAN stathmin-like 3 61 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding p.P61P(1) kidney(1)|large_intestine(1)|lung(5)|prostate(1) 8 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) ACAGGTCAGAAGGGGACTTGA 0.612000 42 320 0 0 0.131918 0 0 YLPM1 56252 broad.mit.edu 37 14 75295991 75295991 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:75295991A>G ENST00000325680.7 + 19 6363 c.6239A>G c.(6238-6240)tAt>tGt p.Y2080C YLPM1_ENST00000552421.1_Missense_Mutation_p.Y1374C NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1885 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck p.Y2080C(1) breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ATGGAGGATTATCTTCAGCTC 0.483000 31 63 0 0 0.173368 0 0 TECPR2 9895 broad.mit.edu 37 14 102900761 102900761 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:102900761G>T ENST00000359520.7 + 9 1833 c.1607G>T c.(1606-1608)gGt>gTt p.G536V TECPR2_ENST00000558678.1_Missense_Mutation_p.G536V NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 536 protein binding p.G536V(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GAAGTGAACGGTGTCCCACAG 0.493000 61 46 5.86059e-21 7.63141e-21 0.139131 1 0 VENTX 27287 broad.mit.edu 37 10 135051554 135051554 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:135051554C>A ENST00000325980.9 + 1 647 c.136C>A c.(136-138)Cct>Act p.P46T NM_014468.2 NP_055283.1 O95231 VENTX_HUMAN VENT homeobox 46 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P46T(1) NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) GGGGAGCCTCCCTGGCCCAGG 0.701000 4 1 0.014758 0.0149647 0.184627 1 0 MICALCL 84953 broad.mit.edu 37 11 12376383 12376383 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:12376383A>G ENST00000256186.2 + 8 2173 c.1882A>G c.(1882-1884)Aga>Gga p.R628G NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 628 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.R628G(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) GCAGAAACTGAGAGAGAAAAT 0.463000 11 26 0 0 0.175082 0 0 ABCC8 6833 broad.mit.edu 37 11 17491753 17491753 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:17491753G>A ENST00000302539.4 - 3 432 c.307C>T c.(307-309)Cat>Tat p.H103Y ABCC8_ENST00000389817.3_Missense_Mutation_p.H103Y NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 103 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity p.H103Y(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGTGCAGATGGTGGGATTCG 0.537000 10 43 0 0 0.093190 0 0 CDK12 51755 broad.mit.edu 37 17 37657618 37657618 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:37657618A>C ENST00000447079.4 + 6 2568 c.2535A>C c.(2533-2535)gaA>gaC p.E845D CDK12_ENST00000430627.2_Missense_Mutation_p.E845D NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 845 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.E845D(1) NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AGCTAATGGAAGGATTGGAAT 0.358000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 76 96 0 0 0.139131 0 0 PIGL 9487 broad.mit.edu 37 17 16203251 16203251 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:16203251A>G ENST00000225609.5 + 3 402 c.385A>G c.(385-387)Aga>Gga p.R129G PIGL_ENST00000395844.3_Missense_Mutation_p.R129G|PIGL_ENST00000498772.2_Missense_Mutation_p.R129G|PIGL_ENST00000581006.1_Missense_Mutation_p.R129G NM_004278.3 NP_004269.1 Q9Y2B2 PIGL_HUMAN phosphatidylinositol glycan anchor biosynthesis, class L 129 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminylphosphatidylinositol deacetylase activity p.R129G(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 UCEC - Uterine corpus endometrioid carcinoma (92;0.0934) GCACGTGGCCAGAGTCCTCCT 0.512000 98 44 0 0 0.139131 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43506963 43506963 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:43506963C>A ENST00000528273.1 - 5 2073 c.683G>T c.(682-684)gGa>gTa p.G228V ARHGAP27_ENST00000290470.3_Missense_Mutation_p.G228V|ARHGAP27_ENST00000442348.1_Intron|ARHGAP27_ENST00000532891.2_Intron|ARHGAP27_ENST00000428638.1_Intron Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 636 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding p.G228V(1) endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) CCACCCGCCTCCGCGCCCCAG 0.731000 4 1 0.00024832 0.00025757 0.150653 1 0 CHRM5 1133 broad.mit.edu 37 15 34356223 34356223 + Silent SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:34356223C>G ENST00000383263.5 + 3 1975 c.1305C>G c.(1303-1305)gtC>gtG p.V435V CHRM5_ENST00000557872.1_Silent_p.V435V NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 435 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity p.V435V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) TGGTCCTAGTCAAAGAGAGGA 0.522000 5 55 0 0 0.217242 0 0 EDNRB 1910 broad.mit.edu 37 13 78492680 78492680 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:78492680C>A ENST00000377211.4 - 2 451 c.299G>T c.(298-300)cGc>cTc p.R100L EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000446573.1_Missense_Mutation_p.R10L|EDNRB_ENST00000334286.5_Missense_Mutation_p.R10L NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 10 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding p.R100L(1)|p.R10L(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) AACCAGGGCGCGTCCGCACAG 0.647000 OREG0022452 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 23 2.24059e-21 2.93167e-21 0.116897 1 0 TRAF3IP3 80342 broad.mit.edu 37 1 209933482 209933482 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:209933482G>A ENST00000367024.1 + 3 614 c.98G>A c.(97-99)cGc>cAc p.R33H TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R33H|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R33H|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R33H|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R33H Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 33 integral to membrane protein binding p.R33H(1) breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) CGTGAAAGCCGCCGCTGCCGT 0.622000 18 26 0 0 0.234183 0 0 PTPN11 5781 broad.mit.edu 37 12 112924336 112924336 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:112924336G>A ENST00000351677.2 + 11 1480 c.1282G>A c.(1282-1284)Gtg>Atg p.V428M PTPN11_ENST00000392597.1_Missense_Mutation_p.V428M NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 432 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.V428M(1) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 GGACCACGGCGTGCCCAGCGA 0.572000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 4 96 0 0 0.217242 0 0 CENPF 1063 broad.mit.edu 37 1 214830356 214830356 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:214830356G>A ENST00000366955.3 + 18 8734 c.8566G>A c.(8566-8568)Gag>Aag p.E2856K NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2952 Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.E2856K(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAAAACCAAGGAGGCAGATGA 0.383000 37 148 0 0 0.183431 0 0 MOGAT2 80168 broad.mit.edu 37 11 75428947 75428947 + Missense_Mutation SNP C C T rs146774065 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:75428947C>T ENST00000198801.5 + 1 84 c.14C>T c.(13-15)gCg>gTg p.A5V NM_025098.2 NP_079374.2 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 5 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity p.A5V(1) NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) GTAGAGTTCGCGCCCTTGTTT 0.577000 5 34 0 0 0.038147 0 0 SCN3A 6328 broad.mit.edu 37 2 165987863 165987863 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:165987863T>C ENST00000360093.3 - 16 2947 c.2456A>G c.(2455-2457)tAt>tGt p.Y819C SCN3A_ENST00000409101.3_Missense_Mutation_p.Y770C|SCN3A_ENST00000283254.7_Missense_Mutation_p.Y819C NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 819 voltage-gated sodium channel complex voltage-gated sodium channel activity p.Y819C(1)|p.Y770C(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTCTTGGAAATAGTAATAAGG 0.398000 40 46 0 0 0.104719 0 0 CMKLR1 1240 broad.mit.edu 37 12 108685692 108685692 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:108685692G>T ENST00000397688.2 - 3 1411 c.1042C>A c.(1042-1044)Cat>Aat p.H348N CMKLR1_ENST00000550402.1_Missense_Mutation_p.H350N|CMKLR1_ENST00000312143.7_Missense_Mutation_p.H350N|CMKLR1_ENST00000412676.1_Missense_Mutation_p.H350N|CMKLR1_ENST00000552995.1_Missense_Mutation_p.H348N NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 350 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.H348N(1) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 AAGCTTCTATGGCTGGGGTAG 0.483000 66 46 1.43987e-31 2.05209e-31 0.139131 1 0 ANGPT4 51378 broad.mit.edu 37 20 870983 870983 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:870983C>T ENST00000381922.3 - 2 440 c.338G>A c.(337-339)aGg>aAg p.R113K ANGPT4_ENST00000546022.1_Missense_Mutation_p.R113K NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 113 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.R113K(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 CAGCTTCGACCTCAAGATCGT 0.642000 15 19 0 0 0.160694 0 0 IFNA4 3441 broad.mit.edu 37 9 21187458 21187458 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:21187458C>A ENST00000421715.1 - 1 140 c.73G>T c.(73-75)Gat>Tat p.D25Y NM_021068.2 NP_066546.1 P05014 IFNA4_HUMAN interferon, alpha 4 25 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding p.D25Y(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TGAGGCAGATCACAGCCCAGA 0.502000 20 30 4.02929e-09 4.52046e-09 0.153744 1 0 AGMO 392636 broad.mit.edu 37 7 15427053 15427053 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:15427053C>A ENST00000342526.3 - 9 1104 c.935G>T c.(934-936)gGt>gTt p.G312V NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 312 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding p.G312V(1) breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 TTCACTGAGACCAAGTCTTGG 0.433000 55 98 5.76465e-13 6.86448e-13 0.139131 1 0 METTL3 56339 broad.mit.edu 37 14 21969067 21969067 + Silent SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:21969067G>C ENST00000298717.4 - 5 1255 c.1104C>G c.(1102-1104)ctC>ctG p.L368L NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 368 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding p.L368L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) GAGGTGGGAAGAGTCGGTCTG 0.512000 12 23 0 0 0.105934 0 0 MYLK3 91807 broad.mit.edu 37 16 46781676 46781676 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:46781676C>T ENST00000394809.4 - 1 545 c.430G>A c.(430-432)Ggg>Agg p.G144R MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 144 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity p.G144R(2) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GGCACACGCCCCTGCATGAGG 0.662000 48 66 0 0 0.139131 0 0 SH3GLB2 56904 broad.mit.edu 37 9 131774573 131774573 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:131774573A>G ENST00000372564.3 - 6 711 c.566T>C c.(565-567)gTg>gCg p.V189A SH3GLB2_ENST00000416629.1_Intron|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.V189A|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.V189A|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.V193A NM_020145.2 NP_064530.1 Q9NR46 SHLB2_HUMAN SH3-domain GRB2-like endophilin B2 189 BAR. filopodium assembly|signal transduction cytoplasm|nucleus cytoskeletal adaptor activity|SH3 domain binding p.V189A(1) NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1) 12 AAAGTCAGGCACCGTCTGGCG 0.637000 4 2 0 0 0.184627 0 0 TTN 7273 broad.mit.edu 37 2 179583172 179583172 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179583172T>C ENST00000589042.1 - 85 24885 c.24661A>G c.(24661-24663)Atg>Gtg p.M8221V TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M7904V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M6977V|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7904 Ig-like 64. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.M6977V(1) 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) TTTTCTGTCATAGTAATACTG 0.418000 24 31 0 0 0.076483 0 0 PPIG 9360 broad.mit.edu 37 2 170489708 170489708 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:170489708G>C ENST00000260970.3 + 12 1188 c.968G>C c.(967-969)cGa>cCa p.R323P PPIG_ENST00000409714.3_Missense_Mutation_p.R308P|PPIG_ENST00000462903.1_Missense_Mutation_p.R323P|PPIG_ENST00000448752.2_Missense_Mutation_p.R323P|PPIG_ENST00000482772.1_3'UTR NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 323 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity p.R323P(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) TACCAGAGACGACTTTTAGTT 0.393000 37 34 0 0 0.111260 0 0 CABYR 26256 broad.mit.edu 37 18 21736412 21736412 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:21736412T>C ENST00000399481.2 + 2 805 c.653T>C c.(652-654)aTa>aCa p.I218T CABYR_ENST00000581397.1_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000327201.6_Intron O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 316 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding p.I316T(1) breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) CCAGAACAAATAGTTATCCCT 0.378000 46 51 0 0 0.139131 0 0 TUBB4A 10382 broad.mit.edu 37 19 6501606 6501606 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:6501606C>T ENST00000264071.2 - 2 457 c.86G>A c.(85-87)gGc>gAc p.G29D TUBB4A_ENST00000601152.1_Intron|TUBB4A_ENST00000540257.1_Missense_Mutation_p.G29D|TUBB4A_ENST00000598006.1_Intron|TUBB4A_ENST00000596926.1_Missense_Mutation_p.G29D P04350 TBB4_HUMAN tubulin, beta 4A class IVa 29 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.G29D(1) GGGGTCGATGCCATGTTCGTC 0.587000 56 46 0 0 0.139131 0 0 SLIT3 6586 broad.mit.edu 37 5 168187941 168187941 + Splice_Site SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:168187941C>T ENST00000519560.1 - 16 2030 c.1610_splice c.e16-1 p.L537_splice SLIT3_ENST00000332966.8_Splice_Site_p.L537_splice|SLIT3_ENST00000404867.3_Splice_Site_p.L537_splice NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 537 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|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.L537L(1) 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) CATTCAGTCGCCTGTGTAGGA 0.532000 36 67 0 0 0.203993 0 0 RHCG 51458 broad.mit.edu 37 15 90030080 90030080 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:90030080C>A ENST00000268122.4 - 2 389 c.321G>T c.(319-321)caG>caT p.Q107H RHCG_ENST00000544600.1_Missense_Mutation_p.Q107H NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 107 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.Q107H(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) GGAACCAGCCCTGCATGAGCA 0.652000 17 18 3.5997e-14 4.3679e-14 0.069288 1 0 PTPN20B 26095 broad.mit.edu 37 10 48771317 48771317 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:48771317G>C ENST00000395668.1 - 6 610 c.338C>G c.(337-339)cCa>cGa p.P113R PTPN20B_ENST00000395662.3_Missense_Mutation_p.P113R|PTPN20B_ENST00000395674.2_Intron|PTPN20B_ENST00000509544.1_Intron|PTPN20B_ENST00000512321.1_Intron|PTPN20B_ENST00000509753.1_Missense_Mutation_p.P166R|PTPN20B_ENST00000507417.1_Missense_Mutation_p.P166R|PTPN20B_ENST00000374233.3_Missense_Mutation_p.P194R|PTPN20B_ENST00000509230.1_Missense_Mutation_p.P185R|PTPN20B_ENST00000395660.2_Missense_Mutation_p.P166R|PTPN20B_ENST00000374235.2_Intron|PTPN20B_ENST00000374240.3_Missense_Mutation_p.P194R|PTPN20B_ENST00000510840.1_Intron|PTPN20B_ENST00000511387.1_Intron|PTPN20B_ENST00000509631.1_Missense_Mutation_p.P113R|PTPN20B_ENST00000514491.1_Missense_Mutation_p.P185R|PTPN20B_ENST00000514592.1_Intron|PTPN20B_ENST00000395661.3_Intron|PTPN20B_ENST00000502266.1_Missense_Mutation_p.P113R|PTPN20B_ENST00000331650.4_Missense_Mutation_p.P113R|PTPN20B_ENST00000512924.1_Intron|PTPN20B_ENST00000515532.1_Missense_Mutation_p.P194R NM_001042363.3 NP_001035822.1 protein tyrosine phosphatase, non-receptor type 20B p.P194R(1) large_intestine(1)|lung(1) 2 Kidney(211;0.201) TAGCTTACATGGAAGAATATC 0.353000 6 2 0 0 0.029380 0 0 ETV3L 440695 broad.mit.edu 37 1 157062682 157062682 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:157062682T>C ENST00000454449.2 - 5 1129 c.845A>G c.(844-846)cAt>cGt p.H282R NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 282 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H282R(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) CCCTGGAAAATGCCAGGCCCC 0.637000 26 57 0 0 0.163468 0 0 ART4 420 broad.mit.edu 37 12 14993793 14993793 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:14993793G>C ENST00000228936.4 - 2 820 c.439C>G c.(439-441)Cca>Gca p.P147A C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 147 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity p.P147A(1) large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 TACTGCTGTGGAGTCCTGGCA 0.443000 16 79 0 0 0.175082 0 0 NRAP 4892 broad.mit.edu 37 10 115356858 115356858 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:115356858A>G ENST00000369358.4 - 37 4686 c.4442T>C c.(4441-4443)aTg>aCg p.M1481T NRAP_ENST00000369360.3_Missense_Mutation_p.M1446T|NRAP_ENST00000359988.3_Missense_Mutation_p.M1473T|NRAP_ENST00000360478.3_Missense_Mutation_p.M1438T Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1473 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding p.M1473T(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ATTGCAGTGCATATAGCTGTT 0.493000 69 19 0 0 0.139131 0 0 SLC28A2 9153 broad.mit.edu 37 15 45559991 45559991 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:45559991G>T ENST00000347644.3 + 12 1261 c.1196G>T c.(1195-1197)cGt>cTt p.R399L CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 399 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity p.R399L(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) AAGCTGCCCCGTGGGTGAGTC 0.547000 60 30 1.05635e-38 1.55657e-38 0.139131 1 0 CD86 942 broad.mit.edu 37 3 121838334 121838334 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:121838334A>G ENST00000330540.2 + 7 1059 c.943A>G c.(943-945)Aaa>Gaa p.K315E CD86_ENST00000493101.1_Missense_Mutation_p.K203E|CD86_ENST00000469710.1_Missense_Mutation_p.K233E|CD86_ENST00000264468.5_Missense_Mutation_p.K102E|CD86_ENST00000393627.2_Missense_Mutation_p.K309E NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 315 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding p.K315E(1) breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) GCGTGTTTTTAAAAGTTCGAA 0.323000 33 44 0 0 0.193644 0 0 ANK3 288 broad.mit.edu 37 10 62023774 62023774 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:62023774C>G ENST00000280772.1 - 6 709 c.518G>C c.(517-519)gGc>gCc p.G173A ANK3_ENST00000503366.1_Missense_Mutation_p.G156A|ANK3_ENST00000373827.2_Missense_Mutation_p.G167A NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 173 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.G173A(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGTGTGAAGCCATCCTGCAA 0.428000 14 5 0 0 0.146539 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229891 87229891 + Silent SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:87229891T>A ENST00000297524.3 - 3 1090 c.987A>T c.(985-987)acA>acT p.T329T SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.T320T NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 329 integral to membrane amino acid transmembrane transporter activity p.T329T(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GACTATTAAGTGTATTAAATA 0.353000 41 58 0 0 0.139131 0 0 RAB27B 5874 broad.mit.edu 37 18 52546615 52546615 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:52546615G>C ENST00000262094.5 + 3 690 c.169G>C c.(169-171)Gga>Cga p.G57R RAB27B_ENST00000586594.1_3'UTR NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 57 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity p.G57R(1) large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) TAATGCACAAGGACCGAATGG 0.398000 51 80 0 0 0.139131 0 0 ABCA3 21 broad.mit.edu 37 16 2333253 2333253 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:2333253G>A ENST00000301732.5 - 26 4669 c.3969C>T c.(3967-3969)ctC>ctT p.L1323L ABCA3_ENST00000382381.3_Silent_p.L1265L NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1323 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.L1323L(1) breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TGGTCTCGATGAGGAAGAGCA 0.657000 28 26 0 0 0.183431 0 0 RPF1 80135 broad.mit.edu 37 1 84962049 84962049 + Missense_Mutation SNP A A G rs147803982 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:84962049A>G ENST00000370654.5 + 8 1019 c.1004A>G c.(1003-1005)cAt>cGt p.H335R NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 335 rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding p.H335R(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1) 14 GAATGGGTCCATAAGGTATGT 0.378000 34 45 0 0 0.203993 0 0 ABCA8 10351 broad.mit.edu 37 17 66928445 66928445 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:66928445G>T ENST00000269080.2 - 6 918 c.781C>A c.(781-783)Cgg>Agg p.R261R ABCA8_ENST00000586539.1_Silent_p.R261R|ABCA8_ENST00000430352.2_Silent_p.R261R NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 261 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R261R(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GCTGAATCCCGAAGACCCATC 0.383000 33 31 3.76114e-14 4.55362e-14 0.203993 1 0 TBC1D3P5 440419 broad.mit.edu 37 17 25758423 25758423 + RNA SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:25758423T>C ENST00000586223.1 + 0 2857 NR_033892.1 cttatgaaaatttattaagat 0.448000 OREG0024258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 11 0 0 0.080935 0 0 JMJD1C 221037 broad.mit.edu 37 10 64968029 64968029 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:64968029G>T ENST00000399262.2 - 10 3618 c.3400C>A c.(3400-3402)Caa>Aaa p.Q1134K JMJD1C_ENST00000402544.1_Missense_Mutation_p.Q915K|JMJD1C_ENST00000399251.1_Missense_Mutation_p.Q915K|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Q952K NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1134 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding p.Q915K(1)|p.Q1134K(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GTCAGAGTTTGAGGATTAGCT 0.403000 93 34 1.97301e-41 2.95544e-41 0.139131 1 0 KRT35 3886 broad.mit.edu 37 17 39636931 39636931 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:39636931A>T ENST00000246639.2 - 1 461 c.329T>A c.(328-330)aTg>aAg p.M110K KRT35_ENST00000393989.1_Missense_Mutation_p.M140K Q92764 KRT35_HUMAN keratin 35 140 Coil 1A.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity p.M140K(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) GTCAGGGCACATGTAGGGGAC 0.592000 46 73 0 0 0.139131 0 0 OR6C1 390321 broad.mit.edu 37 12 55715172 55715172 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:55715172A>G ENST00000379668.2 + 1 827 c.789A>G c.(787-789)aaA>aaG p.K263K NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K263K(1) endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 CCTCAGCAAAAGATAGAGTGT 0.443000 48 68 0 0 0.139131 0 0 SLC35F1 222553 broad.mit.edu 37 6 118598702 118598702 + Nonsense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:118598702G>A ENST00000360388.4 + 6 1041 c.840G>A c.(838-840)tgG>tgA p.W280* NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 280 transport integral to membrane p.W280*(1) breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) CCTGGGACTGGCAAATAGGTA 0.433000 5 190 0 0 0.029380 0 0 SLC26A6 65010 broad.mit.edu 37 3 48665887 48665887 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:48665887C>T ENST00000358747.6 - 15 1967 c.1717G>A c.(1717-1719)Gag>Aag p.E573K SLC26A6_ENST00000420764.2_Missense_Mutation_p.E594K|SLC26A6_ENST00000455886.2_Missense_Mutation_p.E558K|SLC26A6_ENST00000395550.2_Missense_Mutation_p.E594K|SLC26A6_ENST00000383733.3_Missense_Mutation_p.E594K|SLC26A6_ENST00000337000.8_Missense_Mutation_p.E487K NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 p.E594K(1) SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) AGCTTCTCCTCTTTCTGCAGT 0.572000 44 24 0 0 0.139131 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95067575 95067575 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:95067575C>T ENST00000379982.3 + 2 523 c.15C>T c.(13-15)atC>atT p.I5I RHOBTB3_ENST00000506817.1_Silent_p.I5I|RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 5 Rho-like. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding p.I5I(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) CCATCCACATCGTGGCGCTGG 0.677000 3 45 0 0 0.115264 0 0 DDRGK1 65992 broad.mit.edu 37 20 3180739 3180739 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:3180739C>A ENST00000354488.3 - 4 475 c.418G>T c.(418-420)Gct>Tct p.A140S DDRGK1_ENST00000380201.2_Missense_Mutation_p.A140S NM_023935.1 NP_076424.1 Q96HY6 DDRGK_HUMAN DDRGK domain containing 1 140 endoplasmic reticulum protein binding p.E139_A140>DS(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1) 7 TCACGTTCAGCCTCCTCTGCC 0.637000 19 21 1.87028e-06 2.00903e-06 0.234183 1 0 VPS41 27072 broad.mit.edu 37 7 38791787 38791787 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:38791787G>A ENST00000310301.4 - 22 1969 c.1915C>T c.(1915-1917)Cca>Tca p.P639S VPS41_ENST00000395969.2_Missense_Mutation_p.P614S NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 639 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding p.P639S(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TTTTCAAGTGGGCAATGGGTA 0.433000 68 101 0 0 0.139131 0 0 MDM2 4193 broad.mit.edu 37 12 69218142 69218142 + Splice_Site SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:69218142G>T ENST00000462284.1 + 6 660 c.e6-1 MDM2_ENST00000540827.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000350057.5_Splice_Site|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258149.5_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding p.?(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TTTTCTCTCAGAATCATCGGA 0.448000 A """sarcoma, glioma, colorectal, other""" 12 27 2.27111e-07 2.48381e-07 0.093190 1 0 NRP2 8828 broad.mit.edu 37 2 206659486 206659486 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:206659486G>C ENST00000360409.3 + 17 3291 c.2500G>C c.(2500-2502)Gag>Cag p.E834Q NRP2_ENST00000357785.5_Missense_Mutation_p.E829Q|NRP2_ENST00000540841.1_Missense_Mutation_p.E812Q|NRP2_ENST00000412873.2_Missense_Mutation_p.E812Q|NRP2_ENST00000540178.1_Missense_Mutation_p.E829Q NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 834 angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity p.E834Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 AGATGAATACGAGGTGGACTG 0.532000 5 176 0 0 0.217242 0 0 LSMD1 84316 broad.mit.edu 37 17 7760052 7760052 + Silent SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:7760052G>C ENST00000333775.5 - 2 949 c.519C>G c.(517-519)ctC>ctG p.L173L LSMD1_ENST00000575771.1_Silent_p.L73L|LSMD1_ENST00000335155.5_Silent_p.L125L|LSMD1_ENST00000575071.1_Silent_p.L83L|LSMD1_ENST00000575208.1_Silent_p.L73L|LSMD1_ENST00000576384.1_Silent_p.L83L|LSMD1_ENST00000576861.1_Silent_p.L99L NM_032356.3 NP_115732.2 Q9BRA0 LSMD1_HUMAN LSM domain containing 1 125 cytoplasm|nucleus p.L173L(1) endometrium(1)|lung(2)|ovary(1) 4 all_cancers(10;0.11)|Prostate(122;0.219) ATCGTGGTCAGAGATACGGAG 0.592000 OREG0024146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 98 0 0 0.116897 0 0 ZNF536 9745 broad.mit.edu 37 19 30934685 30934685 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:30934685G>C ENST00000355537.3 + 2 363 c.216G>C c.(214-216)atG>atC p.M72I NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.M72I(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACGTGCCCATGAGCGGCCAGC 0.687000 21 44 0 0 0.083992 0 0 PRKDC 5591 broad.mit.edu 37 8 48733455 48733455 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:48733455T>G ENST00000314191.2 - 67 9214 c.9158A>C c.(9157-9159)cAg>cCg p.Q3053P PRKDC_ENST00000338368.3_Missense_Mutation_p.Q3053P|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3054 FAT.|KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding p.Q3053P(1)|p.Q3054P(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGCCTCTCCCTGGAGCAGCAG 0.453000 Non-homologous end-joining 21 45 0 0 0.099896 0 0 TMPO 7112 broad.mit.edu 37 12 98927517 98927517 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:98927517C>G ENST00000266732.4 + 4 1720 c.1482C>G c.(1480-1482)ttC>ttG p.F494L TMPO_ENST00000393053.2_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron NM_003276.2 NP_003267.1 P42167 LAP2B_HUMAN thymopoietin 0 integral to membrane|nuclear inner membrane DNA binding|lamin binding p.F494L(1) breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CTTTTCCCTTCCATGAATCTA 0.413000 17 65 0 0 0.204396 0 0 ATP10B 23120 broad.mit.edu 37 5 160097559 160097559 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:160097559G>A ENST00000327245.5 - 7 1432 c.586C>T c.(586-588)Ccc>Tcc p.P196S NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 196 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.P196S(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCCCATTGGGGTCAGAGGAA 0.498000 86 113 0 0 0.139131 0 0 EDEM3 80267 broad.mit.edu 37 1 184688331 184688331 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:184688331A>C ENST00000318130.8 - 11 1392 c.1126T>G c.(1126-1128)Tat>Gat p.Y376D EDEM3_ENST00000367512.3_Missense_Mutation_p.Y333D NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 376 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding p.Y333D(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ATCACCTGATATAACATTTCA 0.313000 17 64 0 0 0.189662 0 0 UBA6 55236 broad.mit.edu 37 4 68500215 68500215 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:68500215T>C ENST00000322244.4 - 21 1923 c.1864A>G c.(1864-1866)Ata>Gta p.I622V NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 622 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding p.I622V(1) central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 CAAAATGGTATTTCCTCTTCT 0.333000 7 22 0 0 0.029380 0 0 KIAA1522 57648 broad.mit.edu 37 1 33235819 33235819 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:33235819C>T ENST00000401073.2 + 6 1109 c.1039C>T c.(1039-1041)Cag>Tag p.Q347* KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.Q299*|KIAA1522_ENST00000373480.1_Nonsense_Mutation_p.Q288*|KIAA1522_ENST00000294521.3_Intron NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 288 Ser-rich. p.Q347*(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CATCTCCCCCCAGGCCACCTA 0.662000 46 49 0 0 0.139131 0 0 GRID2 2895 broad.mit.edu 37 4 94137997 94137997 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:94137997C>T ENST00000282020.4 + 6 1156 c.898C>T c.(898-900)Cgt>Tgt p.R300C GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.R205C NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 300 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.R300C(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GCGGTGTTTCCGTGGCAACCA 0.418000 22 71 0 0 0.076483 0 0 ISLR 3671 broad.mit.edu 37 15 74467991 74467991 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:74467991C>A ENST00000249842.3 + 2 1149 c.792C>A c.(790-792)gcC>gcA p.A264A ISLR_ENST00000395118.1_Silent_p.A264A|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 264 Ig-like. cell adhesion extracellular region p.A264A(1) central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GGCAGCCGGCCCCTCAGCTTC 0.647000 63 83 3.13765e-25 4.25405e-25 0.139131 1 0 LPHN2 23266 broad.mit.edu 37 1 82456749 82456749 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:82456749A>T ENST00000370728.1 + 25 4945 c.4300A>T c.(4300-4302)Ata>Tta p.I1434L LPHN2_ENST00000394879.1_Missense_Mutation_p.I1436L|LPHN2_ENST00000370723.1_Missense_Mutation_p.I1436L|LPHN2_ENST00000319517.6_Missense_Mutation_p.I1378L|LPHN2_ENST00000370727.1_Missense_Mutation_p.I1406L|LPHN2_ENST00000370730.1_Missense_Mutation_p.I1391L|LPHN2_ENST00000271029.4_Missense_Mutation_p.I1406L|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.I1449L|LPHN2_ENST00000370721.1_Missense_Mutation_p.I1359L|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.I1391L|LPHN2_ENST00000359929.3_Missense_Mutation_p.I1378L|LPHN2_ENST00000370725.1_Missense_Mutation_p.I1449L O95490 LPHN2_HUMAN latrophilin 2 1434 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.I1378L(1)|p.I1449L(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) tgatggttatataatccccat 0.413000 19 30 0 0 0.175082 0 0 MAATS1 89876 broad.mit.edu 37 3 119466715 119466715 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:119466715C>T ENST00000273390.5 + 16 2186 c.2109C>T c.(2107-2109)atC>atT p.I703I RP11-169N13.4_ENST00000489428.2_RNA NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 p.I703I(1) GTTTTCTGATCCCAGAGGTGC 0.299000 10 87 0 0 0.132662 0 0 OR6C75 390323 broad.mit.edu 37 12 55759747 55759747 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:55759747C>A ENST00000343399.3 + 1 853 c.853C>A c.(853-855)Ccc>Acc p.P285T NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P285T(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TCTCTTGAATCCCTTCATATA 0.383000 26 41 1.7881e-09 2.01649e-09 0.134883 1 0 ANO4 121601 broad.mit.edu 37 12 101480521 101480521 + Silent SNP G G A rs138063019 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:101480521G>A ENST00000392979.3 + 16 1876 c.1515G>A c.(1513-1515)gcG>gcA p.A505A ANO4_ENST00000299222.9_Silent_p.A60A|ANO4_ENST00000392977.3_Silent_p.A540A|ANO4_ENST00000550015.1_Silent_p.A60A NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 540 chloride channel complex chloride channel activity p.A505A(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TTAAGTGGGCGTTAATCAGGA 0.502000 HNSCC(74;0.22) 100 126 0 0 0.139131 0 0 HDAC8 55869 broad.mit.edu 37 X 71791953 71791953 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:71791953T>C ENST00000439122.2 - 2 404 c.118A>G c.(118-120)Atg>Gtg p.M40V HDAC8_ENST00000373560.2_Missense_Mutation_p.M40V|HDAC8_ENST00000373571.1_Missense_Mutation_p.M40V|HDAC8_ENST00000373583.1_Missense_Mutation_p.M40V|HDAC8_ENST00000373589.4_Missense_Mutation_p.M40V|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373559.4_Missense_Mutation_p.M40V|HDAC8_ENST00000373556.3_Missense_Mutation_p.M40V|HDAC8_ENST00000373561.4_Missense_Mutation_p.M40V|HDAC8_ENST00000373554.1_Missense_Mutation_p.M40V|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373573.3_Missense_Mutation_p.M40V NM_001166419.1 NP_001159891.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 40 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding p.M40V(1) breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) GAATGCACCATACTGGCCTAA 0.373000 11 0 0 0 0.080935 0 0 BIRC7 79444 broad.mit.edu 37 20 61869766 61869766 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:61869766G>T ENST00000217169.3 + 3 682 c.468G>T c.(466-468)cgG>cgT p.R156R BIRC7_ENST00000342412.6_Silent_p.R156R|BIRC7_ENST00000395306.1_Silent_p.R69R NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 156 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding p.R156R(1) endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) TCCTGCTCCGGTCAAAAGGAA 0.627000 41 52 4.10826e-27 5.66189e-27 0.139131 1 0 P2RX3 5024 broad.mit.edu 37 11 57114659 57114659 + Nonsense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:57114659G>T ENST00000263314.2 + 3 359 c.325G>T c.(325-327)Gag>Tag p.E109* NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 109 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity p.E109*(1) endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 ATTCTGCCCAGAGGTGAGGGG 0.522000 9 9 7.03913e-09 7.85662e-09 0.093190 1 0 ZSCAN25 221785 broad.mit.edu 37 7 99220250 99220250 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:99220250C>A ENST00000394152.2 + 6 995 c.668C>A c.(667-669)aCt>aAt p.T223N ZSCAN25_ENST00000334715.3_Missense_Mutation_p.T223N|ZSCAN25_ENST00000262941.6_Intron|ZSCAN25_ENST00000466948.1_Intron NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 p.T223N(1) GGGTTCTTTACTGCTGGATCG 0.537000 76 75 3.66258e-25 4.95955e-25 0.139131 1 0 KCNAB3 9196 broad.mit.edu 37 17 7830685 7830685 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:7830685G>A ENST00000303790.2 - 4 380 c.381C>T c.(379-381)acC>acT p.T127T RP11-1099M24.7_ENST00000573621.1_3'UTR NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 127 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) ACACTTCGGCGGTGTCAAACA 0.498000 52 47 0 0 0.139131 0 0 OR14C36 127066 broad.mit.edu 37 1 248512220 248512220 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:248512220C>T ENST00000317861.1 + 1 144 c.144C>T c.(142-144)acC>acT p.T48T NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T48T(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CCGTCACCACCTGTGACAGCA 0.433000 61 140 0 0 0.139131 0 0 ZDBF2 57683 broad.mit.edu 37 2 207169613 207169613 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:207169613C>A ENST00000374423.3 + 5 747 c.361C>A c.(361-363)Cct>Act p.P121T NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 121 nucleic acid binding|zinc ion binding p.P121T(2) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ACATTCCAGACCTCATAAATC 0.458000 18 22 4.75885e-15 5.83308e-15 0.160694 1 0 CAMK2A 815 broad.mit.edu 37 5 149631370 149631370 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:149631370C>A ENST00000348628.6 - 9 1301 c.636G>T c.(634-636)ccG>ccT p.P212P CAMK2A_ENST00000398376.3_Silent_p.P212P NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha 212 Protein kinase. interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.P212P(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATCCCAGAACGGGGGGTACC 0.602000 5 13 3.59834e-05 3.76473e-05 0.217242 1 0 TYW1B 441250 broad.mit.edu 37 7 72267537 72267537 + RNA SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:72267537C>A ENST00000438125.1 - 0 336 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GGTTCTTCCTCCTGGAAGAGA 0.433000 37 55 1.66425e-11 1.94551e-11 0.214465 1 0 SKAP1 8631 broad.mit.edu 37 17 46474063 46474063 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:46474063C>A ENST00000336915.6 - 2 200 c.131G>T c.(130-132)gGc>gTc p.G44V SKAP1_ENST00000584924.1_Missense_Mutation_p.G44V NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 44 positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding p.G44L(1) large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 TTGCTGAAAGCCCCGTAGAAT 0.378000 59 97 9.40535e-28 1.30784e-27 0.139131 1 0 PHLDA1 22822 broad.mit.edu 37 12 76424431 76424431 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:76424431G>C ENST00000266671.5 - 1 3281 c.1091C>G c.(1090-1092)tCg>tGg p.S364W RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.S223W Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 364 14 X 2 AA repeats of P-H. apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding p.S364W(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) gtgtgggtgcgagtgaggatg 0.662000 5 11 0 0 0.217242 0 0 PRRC2A 7916 broad.mit.edu 37 6 31592974 31592974 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:31592974C>A ENST00000376033.2 + 6 724 c.490C>A c.(490-492)Cga>Aga p.R164R PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Silent_p.R164R NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 164 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding p.R164R(1) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCTACTGTCACGATTCTCTCG 0.552000 70 75 7.62596e-35 1.10424e-34 0.139131 1 0 BIRC3 330 broad.mit.edu 37 11 102206810 102206810 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:102206810G>A ENST00000263464.3 + 7 4188 c.1438G>A c.(1438-1440)Gat>Aat p.D480N BIRC3_ENST00000532808.1_Missense_Mutation_p.D480N NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 480 CARD. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.D480N(1) endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) ACAAGAACATGATGTTATTAA 0.348000 T MALT1 MALT 86 93 0 0 0.139131 0 0 GFER 2671 broad.mit.edu 37 16 2035896 2035896 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:2035896C>T ENST00000248114.6 + 3 491 c.485C>T c.(484-486)aCc>aTc p.T162I GFER_ENST00000569451.1_Silent_p.H96H|GFER_ENST00000567719.1_Missense_Mutation_p.T87I|AC005606.14_ENST00000564438.1_lincRNA NM_005262.2 NP_005253.3 P55789 ALR_HUMAN growth factor, augmenter of liver regeneration 162 ERV/ALR sulfhydryl oxidase. cell proliferation|spermatogenesis extracellular region|mitochondrial intermembrane space growth factor activity|thiol oxidase activity p.T162I(1) endometrium(1)|large_intestine(1)|lung(3) 5 GACACCCGCACCCGGGCATGC 0.602000 51 96 0 0 0.139131 0 0 ASTN2 23245 broad.mit.edu 37 9 119737521 119737521 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:119737521C>A ENST00000313400.4 - 10 1955 c.1855G>T c.(1855-1857)Gat>Tat p.D619Y ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.D615Y|ASTN2_ENST00000361209.2_Missense_Mutation_p.D568Y O75129 ASTN2_HUMAN astrotactin 2 619 integral to membrane p.D568Y(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACGAGCACATCGGTCTTGCAG 0.542000 28 54 3.11337e-16 3.86414e-16 0.173368 1 0 SOCS6 9306 broad.mit.edu 37 18 67992312 67992312 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:67992312G>T ENST00000397942.3 + 2 724 c.408G>T c.(406-408)ccG>ccT p.P136P SOCS6_ENST00000582322.1_Silent_p.P136P NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 136 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm p.P136P(1) NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GTCCCGCGCCGTGGCCTCTGC 0.592000 41 31 1.30091e-30 1.84678e-30 0.246493 1 0 DDRGK1 65992 broad.mit.edu 37 20 3180740 3180740 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:3180740C>A ENST00000354488.3 - 4 474 c.417G>T c.(415-417)gaG>gaT p.E139D DDRGK1_ENST00000380201.2_Missense_Mutation_p.E139D NM_023935.1 NP_076424.1 Q96HY6 DDRGK_HUMAN DDRGK domain containing 1 139 endoplasmic reticulum protein binding p.E139_A140>DS(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1) 7 CACGTTCAGCCTCCTCTGCCT 0.632000 19 21 1.87028e-06 2.00903e-06 0.234183 1 0 FOLH1 2346 broad.mit.edu 37 11 49227674 49227674 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:49227674T>A ENST00000340334.7 - 3 492 c.124A>T c.(124-126)Aat>Tat p.N42Y FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.N42Y|FOLH1_ENST00000356696.3_Missense_Mutation_p.N57Y|FOLH1_ENST00000256999.2_Missense_Mutation_p.N57Y NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 57 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.N57Y(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GCTTTCATATTATGCTTTGGA 0.328000 13 16 0 0 0.175082 0 0 OR5L1 219437 broad.mit.edu 37 11 55579396 55579396 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:55579396G>A ENST00000333973.2 + 1 543 c.454G>A c.(454-456)Ggg>Agg p.G152R NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G152R(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CTACTTCTGTGGGACGGTGTG 0.468000 51 87 0 0 0.139131 0 0 AGPS 8540 broad.mit.edu 37 2 178378551 178378551 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:178378551G>T ENST00000264167.4 + 17 1758 c.1612G>T c.(1612-1614)Gta>Tta p.V538L AGPS_ENST00000409888.1_Intron NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 538 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity p.V538L(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) TTTTAGGGTGGTAGATCTCTG 0.328000 13 50 4.7546e-09 5.31771e-09 0.146539 1 0 HERC6 55008 broad.mit.edu 37 4 89311943 89311943 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:89311943C>A ENST00000380265.5 + 4 759 c.576C>A c.(574-576)caC>caA p.H192Q HERC6_ENST00000273960.3_Missense_Mutation_p.H192Q|HERC6_ENST00000264346.7_Missense_Mutation_p.H192Q NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 192 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity p.H192Q(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GAGGGGCTCACAGCTTTGCCC 0.637000 4 44 5.9392e-07 6.44997e-07 0.217242 1 0 MOV10L1 54456 broad.mit.edu 37 22 50563913 50563913 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:50563913G>T ENST00000262794.5 + 11 1745 c.1662G>T c.(1660-1662)atG>atT p.M554I MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.M554I|MOV10L1_ENST00000540615.1_Missense_Mutation_p.M534I|MOV10L1_ENST00000395858.3_Missense_Mutation_p.M554I NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 554 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding p.M534I(1)|p.M554I(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGTATAACATGAGCGGGATCA 0.463000 61 15 4.45325e-31 6.33015e-31 0.139131 1 0 SLC36A2 153201 broad.mit.edu 37 5 150715005 150715005 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:150715005G>T ENST00000335244.4 - 6 758 c.629C>A c.(628-630)cCc>cAc p.P210H SLC36A2_ENST00000521967.1_Missense_Mutation_p.P210H NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 210 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity p.P210H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACCAGGAAGGGCAGGAAGGA 0.522000 48 81 1.32667e-27 1.83537e-27 0.139131 1 0 EMILIN1 11117 broad.mit.edu 37 2 27306454 27306454 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:27306454G>A ENST00000380320.4 + 4 2514 c.2015G>A c.(2014-2016)gGc>gAc p.G672D NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 672 cell adhesion collagen p.G672D(1) breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGGGCCAGGGCGCTGATCTG 0.567000 56 63 0 0 0.139131 0 0 PIGK 10026 broad.mit.edu 37 1 77629531 77629531 + Splice_Site SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:77629531C>A ENST00000370812.3 - 6 607 c.584_splice c.e6+1 p.R195_splice PIGK_ENST00000370813.5_Splice_Site_p.R119_splice|PIGK_ENST00000359130.1_Splice_Site_p.R195_splice|PIGK_ENST00000445065.1_Splice_Site_p.R101_splice|PIGK_ENST00000478391.1_5'UTR NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K 195 attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding p.R195L(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 TGCTAATTACCGTCTTTTCTG 0.299000 11 32 0.000151284 0.000157371 0.105934 1 0 CYFIP1 23191 broad.mit.edu 37 15 22955225 22955225 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:22955225A>G ENST00000313077.7 + 15 1744 c.1619A>G c.(1618-1620)aAg>aGg p.K540R CYFIP1_ENST00000560848.1_Missense_Mutation_p.K540R NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 540 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding p.K540R(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) AAGGACCCCAAGAGCGGCTTC 0.642000 25 40 0 0 0.116897 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576960 33576960 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:33576960G>T ENST00000504830.1 - 19 3506 c.3171C>A c.(3169-3171)tcC>tcA p.S1057S ADAMTS12_ENST00000352040.3_Silent_p.S972S NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1057 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.S1057S(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CTCCTTCTTTGGAGGCTGTGG 0.557000 HNSCC(64;0.19) 26 56 9.65021e-13 1.14662e-12 0.153744 1 0 SERTAD2 9792 broad.mit.edu 37 2 64863200 64863200 + Nonsense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:64863200G>C ENST00000313349.3 - 2 1103 c.806C>G c.(805-807)tCa>tGa p.S269* NM_014755.2 NP_055570.1 Q14140 SRTD2_HUMAN SERTA domain containing 2 269 negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus p.S269*(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1) 12 GGCCATTTTTGAGGCTGTCCC 0.512000 12 93 0 0 0.093190 0 0 SUN1 23353 broad.mit.edu 37 7 905691 905691 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:905691G>A ENST00000456758.2 + 22 2534 c.2534G>A c.(2533-2535)cGc>cAc p.R845H SUN1_ENST00000389574.3_Missense_Mutation_p.R573H|SUN1_ENST00000452783.2_Missense_Mutation_p.R553H|SUN1_ENST00000405266.1_Missense_Mutation_p.R693H|SUN1_ENST00000413514.2_Missense_Mutation_p.R454H|SUN1_ENST00000401592.1_Missense_Mutation_p.R656H|SUN1_ENST00000425407.2_Missense_Mutation_p.R573H O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 683 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding p.R656H(1)|p.R573H(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CAGTCCCCGCGCGTGGTCATC 0.582000 28 25 0 0 0.134883 0 0 SCN7A 6332 broad.mit.edu 37 2 167318937 167318937 + Missense_Mutation SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:167318937A>C ENST00000409855.1 - 9 1171 c.1045T>G c.(1045-1047)Tta>Gta p.L349V NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 349 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.L349V(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TGAGCCATTAACCGAAATAGG 0.418000 11 7 0 0 0.093190 0 0 RGS8 85397 broad.mit.edu 37 1 182615882 182615882 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:182615882C>G ENST00000483095.2 - 7 788 c.531G>C c.(529-531)agG>agC p.R177S RGS8_ENST00000258302.4_Missense_Mutation_p.R195S|RGS8_ENST00000367556.1_Missense_Mutation_p.R177S|RGS8_ENST00000367557.4_Missense_Mutation_p.R177S P57771 RGS8_HUMAN regulator of G-protein signaling 8 177 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.R195S(1)|p.R177S(1) haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 AACTGAGCCTCCTCTGGCTTT 0.483000 170 108 0 0 0.139131 0 0 FAM134B 54463 broad.mit.edu 37 5 16508688 16508688 + Splice_Site SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:16508688T>C ENST00000399793.2 - 1 419 c.35_splice c.e1+1 p.S12_splice FAM134B_ENST00000306320.9_Intron NM_019000.4 NP_061873.2 Q9H6L5 F134B_HUMAN family with sequence similarity 134, member B 153 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane p.S12G(1) breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1) 16 CACAATTACCTTTTGCCTGGT 0.368000 24 39 0 0 0.134883 0 0 EPM2AIP1 9852 broad.mit.edu 37 3 37033806 37033806 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:37033806C>G ENST00000322716.5 - 1 989 c.763G>C c.(763-765)Gag>Cag p.E255Q NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 255 endoplasmic reticulum p.E255Q(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 CCTGAGTTCTCACCAATCATC 0.483000 60 75 0 0 0.139131 0 0 REG3A 5068 broad.mit.edu 37 2 79385532 79385532 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:79385532C>T ENST00000393878.1 - 3 507 c.253G>A c.(253-255)Gga>Aga p.G85R AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.G85R|REG3A_ENST00000409839.3_Missense_Mutation_p.G85R NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 85 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding p.G85*(1)|p.G85R(1) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 ACGAAGGATCCCTCAGCCCCA 0.572000 45 62 0 0 0.139131 0 0 FRAS1 80144 broad.mit.edu 37 4 79403083 79403083 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:79403083C>T ENST00000264895.6 + 57 9009 c.8569C>T c.(8569-8571)Cgg>Tgg p.R2857W NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2852 Calx-beta 3. cell communication integral to membrane|plasma membrane metal ion binding p.R2858W(1)|p.R2857W(1) 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 TCCCAGCTCTCGGAAGGTGGA 0.522000 47 68 0 0 0.131918 0 0 MDGA2 161357 broad.mit.edu 37 14 47426604 47426604 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:47426604C>A ENST00000426342.1 - 9 1914 c.1168G>T c.(1168-1170)Gct>Tct p.A390S MDGA2_ENST00000357362.3_Missense_Mutation_p.A390S|MDGA2_ENST00000439988.2_Missense_Mutation_p.A619S|MDGA2_ENST00000399232.2_Missense_Mutation_p.A688S NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 619 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane p.A390S(2)|p.A688S(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 CATCTCCCAGCTCCAGCTTCA 0.368000 29 27 1.39806e-14 1.70021e-14 0.134883 1 0 BAI3 577 broad.mit.edu 37 6 70040437 70040437 + Silent SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:70040437T>C ENST00000370598.1 + 23 3896 c.3075T>C c.(3073-3075)ttT>ttC p.F1025F BAI3_ENST00000238918.8_Silent_p.F231F NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1025 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.F1025F(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TCTATGCTTTTGTGGGACCTG 0.368000 16 28 0 0 0.175082 0 0 PDGFRA 5156 broad.mit.edu 37 4 55130019 55130019 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:55130019G>T ENST00000257290.5 + 4 884 c.553G>T c.(553-555)Ggg>Tgg p.G185W FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.G185W NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 185 Ig-like C2-type 2. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.G185W(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTTCACTGTAGGGCCCTATAT 0.478000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 51 47 9.40368e-32 1.34374e-31 0.139131 1 0 ABT1 29777 broad.mit.edu 37 6 26598745 26598745 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:26598745C>T ENST00000274849.1 + 3 722 c.691C>T c.(691-693)Cgt>Tgt p.R231C NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 231 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity p.R231C(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 GCCAGGGGGACGTGAACGGGC 0.657000 16 50 0 0 0.204396 0 0 RGS18 64407 broad.mit.edu 37 1 192153479 192153479 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:192153479C>A ENST00000367460.3 + 5 684 c.503C>A c.(502-504)cCt>cAt p.P168H NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 168 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.P168H(1) kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ATCACTCAACCTACCCTCCAC 0.348000 21 61 5.45024e-15 6.658e-15 0.083992 1 0 NR4A1 3164 broad.mit.edu 37 12 52451017 52451017 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:52451017G>T ENST00000545748.1 + 6 2492 c.1497G>T c.(1495-1497)gaG>gaT p.E499D NR4A1_ENST00000360284.3_Missense_Mutation_p.E458D|NR4A1_ENST00000243050.1_Missense_Mutation_p.E445D|NR4A1_ENST00000394824.2_Missense_Mutation_p.E445D|NR4A1_ENST00000394825.1_Missense_Mutation_p.E445D|NR4A1_ENST00000550082.1_Missense_Mutation_p.E458D P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 445 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding p.E445D(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) CCTTCCTGGAGCTCTTCATCC 0.607000 13 30 4.3838e-07 4.77513e-07 0.105934 1 0 MMP1 4312 broad.mit.edu 37 11 102667841 102667841 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:102667841C>G ENST00000315274.6 - 3 470 c.403G>C c.(403-405)Gag>Cag p.E135Q WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 135 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.E135Q(1) breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) AAGGCTTTCTCAATGGCATGG 0.433000 73 102 0 0 0.139131 0 0 COL6A3 1293 broad.mit.edu 37 2 238280656 238280656 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:238280656C>A ENST00000295550.4 - 9 4456 c.4004G>T c.(4003-4005)gGc>gTc p.G1335V COL6A3_ENST00000392003.2_Missense_Mutation_p.G928V|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1134V|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1135V|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1129V|COL6A3_ENST00000392004.3_Missense_Mutation_p.G1129V|COL6A3_ENST00000472056.1_Missense_Mutation_p.G728V|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1129V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1335 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.G1335V(1)|p.G1129V(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGCGGGACGCCCTCTTCAAT 0.622000 17 20 3.51602e-12 4.15947e-12 0.204396 1 0 CRB2 286204 broad.mit.edu 37 9 126132933 126132933 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:126132933G>T ENST00000373631.3 + 7 1602 c.1601G>T c.(1600-1602)cGg>cTg p.R534L CRB2_ENST00000373629.2_Missense_Mutation_p.R202L|CRB2_ENST00000359999.3_Missense_Mutation_p.R534L NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 534 Laminin G-like 1. R -> Q. extracellular region|integral to membrane|plasma membrane calcium ion binding p.R534L(1) NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 CTGGAGCTACGGCTCTGGCAT 0.652000 42 54 4.75955e-12 5.61223e-12 0.139131 1 0 PDCD10 11235 broad.mit.edu 37 3 167413436 167413436 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:167413436T>A ENST00000392750.2 - 6 760 c.343A>T c.(343-345)Agt>Tgt p.S115C PDCD10_ENST00000497056.2_Missense_Mutation_p.S115C|PDCD10_ENST00000470131.1_Missense_Mutation_p.S115C|PDCD10_ENST00000492396.1_Missense_Mutation_p.S52C|PDCD10_ENST00000487947.2_Missense_Mutation_p.S115C|PDCD10_ENST00000471885.1_Missense_Mutation_p.S115C|PDCD10_ENST00000461494.1_Missense_Mutation_p.S115C|PDCD10_ENST00000473645.2_Missense_Mutation_p.S115C NM_007217.3 NP_009148.2 Q9BUL8 PDC10_HUMAN programmed cell death 10 115 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding p.S115C(1) central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2) 12 GGGATCTTACTGAGAATTTGT 0.338000 143 188 0 0 0.139131 0 0 ZDHHC19 131540 broad.mit.edu 37 3 195935386 195935386 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:195935386G>A ENST00000296326.3 - 4 533 c.454C>T c.(454-456)Cgc>Tgc p.R152C ZDHHC19_ENST00000488508.1_5'UTR NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 152 integral to membrane acyltransferase activity|zinc ion binding p.R152C(1) breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) CGGAAGTTGCGGTGACCGATG 0.587000 54 103 0 0 0.139131 0 0 RRP12 23223 broad.mit.edu 37 10 99126871 99126871 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:99126871G>C ENST00000370992.4 - 26 3085 c.2974C>G c.(2974-2976)Ctt>Gtt p.L992V RRP12_ENST00000414986.1_Missense_Mutation_p.L931V|RRP12_ENST00000315563.6_Missense_Mutation_p.L892V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.L710V NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 992 integral to membrane|nuclear membrane|nucleolus protein binding p.L992V(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TCATCTGAAAGCTTCCCAATG 0.602000 41 14 0 0 0.111260 0 0 ZNF695 57116 broad.mit.edu 37 1 247163260 247163260 + Silent SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:247163260C>G ENST00000339986.7 - 2 267 c.120G>C c.(118-120)ctG>ctC p.L40L ZNF695_ENST00000487338.2_Silent_p.L40L|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 40 KRAB. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.L40L(1) endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CAAGGGAGATCAGGTTTCTGT 0.433000 51 46 0 0 0.139131 0 0 GP2 2813 broad.mit.edu 37 16 20329700 20329700 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:20329700G>A ENST00000302555.5 - 7 1209 c.1060C>T c.(1060-1062)Ctc>Ttc p.L354F GP2_ENST00000381360.5_Missense_Mutation_p.L210F|GP2_ENST00000381362.4_Missense_Mutation_p.L357F|GP2_ENST00000341642.5_Missense_Mutation_p.L207F P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 357 ZP. anchored to membrane|extracellular region|plasma membrane p.L354F(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TCTTGGAAGAGGGCCATCCTG 0.488000 96 138 0 0 0.139131 0 0 ANKRD1 27063 broad.mit.edu 37 10 92675309 92675309 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:92675309G>C ENST00000371697.3 - 8 1088 c.840C>G c.(838-840)atC>atG p.I280M NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 280 cellular lipid metabolic process|defense response|signal transduction DNA binding p.I280M(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) CACAGTTCTTGATGTTGAGAT 0.458000 4 26 0 0 0.150653 0 0 ITK 3702 broad.mit.edu 37 5 156679624 156679624 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:156679624A>G ENST00000422843.3 + 17 1951 c.1799A>G c.(1798-1800)gAa>gGa p.E600G ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 600 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.E600G(1) breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGAGACCAGAAGATCGGCCA 0.473000 T SYK peripheral T-cell lymphoma 32 55 0 0 0.203993 0 0 KIF20A 10112 broad.mit.edu 37 5 137519015 137519015 + Silent SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:137519015G>C ENST00000394894.3 + 8 1216 c.990G>C c.(988-990)cgG>cgC p.R330R KIF20A_ENST00000508792.1_Silent_p.R312R NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 330 Kinesin-motor. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity p.R330R(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AGACTTTGCGGCTATGCGAGG 0.488000 24 55 0 0 0.163468 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5146429 5146429 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:5146429C>A ENST00000274181.7 + 3 500 c.362C>A c.(361-363)cCt>cAt p.P121H CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.P121H NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 121 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P121H(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CTAGTGGCTCCTGGCTTTATT 0.537000 71 63 2.05912e-35 2.99358e-35 0.139131 1 0 F13B 2165 broad.mit.edu 37 1 197030920 197030920 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:197030920C>T ENST00000367412.1 - 3 488 c.445G>A c.(445-447)Gaa>Aaa p.E149K NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 149 blood coagulation extracellular region p.E149K(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 ATACCATGTTCTTTCCTACAG 0.348000 15 31 0 0 0.146539 0 0 BICD1 636 broad.mit.edu 37 12 32458910 32458910 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:32458910G>T ENST00000548411.1 + 4 1040 c.859G>T c.(859-861)Ggt>Tgt p.G287C BICD1_ENST00000281474.5_Missense_Mutation_p.G287C NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 287 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton p.G287C(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) CAAAATGAACGGTCATATCCA 0.443000 36 62 1.07121e-22 1.43267e-22 0.246493 1 0 C4orf27 54969 broad.mit.edu 37 4 170652908 170652908 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:170652908C>G ENST00000393381.2 - 7 931 c.856G>C c.(856-858)Gat>Cat p.D286H NM_017867.2 NP_060337.2 Q9NWY4 CD027_HUMAN chromosome 4 open reading frame 27 286 nucleus p.D286H(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 12 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116) ATGCCATAATCACATTCATCA 0.443000 23 106 0 0 0.125774 0 0 ZNF618 114991 broad.mit.edu 37 9 116811439 116811439 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:116811439C>T ENST00000288466.7 + 14 1677 c.1578C>T c.(1576-1578)tgC>tgT p.C526C ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.C619C NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 619 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 TGACGGATTGCCGGGTGAGCA 0.617000 4 142 0 0 0.184627 0 0 DDX18 8886 broad.mit.edu 37 2 118579626 118579626 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:118579626G>T ENST00000263239.2 + 6 1068 c.940G>T c.(940-942)Gac>Tac p.D314Y DDX18_ENST00000474694.1_3'UTR NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 314 Helicase ATP-binding. ATP binding|ATP-dependent RNA helicase activity|RNA binding p.D314Y(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CCGTCTGCTGGACCATATGCA 0.418000 41 75 3.54909e-21 4.63259e-21 0.124865 1 0 CROCC 9696 broad.mit.edu 37 1 17266430 17266430 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:17266430C>A ENST00000375541.5 + 13 1719 c.1650C>A c.(1648-1650)ggC>ggA p.G550G CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 550 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.G550G(1) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ACCTACTGGGCACCCTGCGGA 0.687000 37 109 2.00842e-17 2.5274e-17 0.117977 1 0 MBTPS1 8720 broad.mit.edu 37 16 84099360 84099360 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:84099360G>A ENST00000343411.3 - 18 2861 c.2366C>T c.(2365-2367)tCa>tTa p.S789L NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 789 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity p.S789L(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GCTGCACCCTGACGCATAATA 0.433000 45 48 0 0 0.139131 0 0 CEP164 22897 broad.mit.edu 37 11 117267987 117267987 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:117267987A>G ENST00000278935.3 + 27 3606 c.3459A>G c.(3457-3459)ccA>ccG p.P1153P CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1153 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus p.P1153P(1) breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AAGACCCACCAGGCATCAAGG 0.642000 3 69 0 0 0.115264 0 0 CENPF 1063 broad.mit.edu 37 1 214818772 214818772 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:214818772C>T ENST00000366955.3 + 13 6027 c.5859C>T c.(5857-5859)ctC>ctT p.L1953L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2049 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.L1953L(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGAAGAACTCTCAGTGGTCA 0.398000 24 144 0 0 0.108266 0 0 PRDM11 56981 broad.mit.edu 37 11 45245962 45245962 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:45245962C>G ENST00000263765.4 + 8 1288 c.1039C>G c.(1039-1041)Ctg>Gtg p.L347V PRDM11_ENST00000530656.1_Missense_Mutation_p.L347V|PRDM11_ENST00000424263.2_Missense_Mutation_p.L313V|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA Q9NQV5 PRD11_HUMAN PR domain containing 11 347 p.L347V(1) endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 GGAGGCCTCACTGGAATCTGC 0.517000 112 146 0 0 0.139131 0 0 CHD6 84181 broad.mit.edu 37 20 40045257 40045257 + Missense_Mutation SNP C C T rs138675502 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:40045257C>T ENST00000373233.3 - 33 6634 c.6457G>A c.(6457-6459)Ggc>Agc p.G2153S NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2153 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding p.G2153S(1) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) AATGCTGCGCCGTTGCTGAAG 0.572000 89 59 0 0 0.139131 0 0 ABHD4 63874 broad.mit.edu 37 14 23079849 23079849 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:23079849G>A ENST00000428304.2 + 7 1094 c.1024G>A c.(1024-1026)Gat>Aat p.D342N NM_022060.2 NP_071343.2 Q8TB40 ABHD4_HUMAN abhydrolase domain containing 4 342 lipid catabolic process hydrolase activity p.D342N(1) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) CGACTCAGTTGATTGAGCTGC 0.517000 4 58 0 0 0.150653 0 0 USH2A 7399 broad.mit.edu 37 1 216062336 216062336 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:216062336G>T ENST00000366943.2 - 41 8041 c.7655C>A c.(7654-7656)aCc>aAc p.T2552N USH2A_ENST00000307340.3_Missense_Mutation_p.T2552N|RP5-1111A8.3_ENST00000414995.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2552 Fibronectin type-III 12. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.T2552K(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATGCTGCCAGGTGACCAACAT 0.408000 HNSCC(13;0.011) 51 116 1.83081e-24 2.45767e-24 0.139131 1 0 UGT2B15 7366 broad.mit.edu 37 4 69520853 69520853 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:69520853A>T ENST00000338206.5 - 4 1062 c.1053T>A c.(1051-1053)aaT>aaA p.N351K NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 351 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.N351K(1) ACAGTCGAGTATTGGAACCTA 0.363000 4 103 0 0 0.069234 0 0 PDGFRB 5159 broad.mit.edu 37 5 149515439 149515439 + Nonsense_Mutation SNP C C A rs148853962 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:149515439C>A ENST00000261799.4 - 3 512 c.43G>T c.(43-45)Gag>Tag p.E15* NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 15 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity p.E15*(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AACAGCAGCTCGCCTTTGGGA 0.592000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 19 26 7.45023e-12 8.76592e-12 0.219247 1 0 RAD54B 25788 broad.mit.edu 37 8 95412520 95412520 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:95412520T>A ENST00000336148.5 - 7 1240 c.1116A>T c.(1114-1116)aaA>aaT p.K372N NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding p.K372N(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TTTGAAATTCTTTCTTCCAAT 0.373000 Direct reversal of damage;Homologous recombination 33 29 0 0 0.214465 0 0 PTPRO 5800 broad.mit.edu 37 12 15699587 15699587 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:15699587A>G ENST00000281171.4 + 13 2579 c.2249A>G c.(2248-2250)gAt>gGt p.D750G PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000442921.2_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.D750G|PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000445537.2_5'UTR NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 750 Fibronectin type-III 8. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.D750G(1) NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GGAGTAGCTGATTTCTTTGAA 0.428000 31 22 0 0 0.203993 0 0 ZNF669 79862 broad.mit.edu 37 1 247263792 247263792 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:247263792A>T ENST00000343381.6 - 4 1451 c.1279T>A c.(1279-1281)Tac>Aac p.Y427N ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.Y341N NM_024804.2 NP_079080.2 Q96BR6 ZN669_HUMAN zinc finger protein 669 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y427N(1) breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6) 17 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GAACGAGTGTAGGCTTTACCG 0.468000 87 318 0 0 0.139131 0 0 GLI1 2735 broad.mit.edu 37 12 57859454 57859454 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:57859454C>G ENST00000228682.2 + 6 690 c.599C>G c.(598-600)tCc>tGc p.S200C GLI1_ENST00000546141.1_Missense_Mutation_p.S159C|GLI1_ENST00000543426.1_Missense_Mutation_p.S72C NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 200 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding p.S200C(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) GGTGATATGTCCAGCCCCAAC 0.562000 41 48 0 0 0.117977 0 0 HCN1 348980 broad.mit.edu 37 5 45645362 45645362 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:45645362C>G ENST00000303230.4 - 2 831 c.774G>C c.(772-774)agG>agC p.R258S NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 258 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.R258S(1) 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 TTTTTGTAAACCTCACAATGC 0.353000 11 20 0 0 0.069234 0 0 AGPAT3 56894 broad.mit.edu 37 21 45400903 45400903 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr21:45400903A>G ENST00000398063.2 + 8 1369 c.877A>G c.(877-879)Atg>Gtg p.M293V AGPAT3_ENST00000291572.8_Missense_Mutation_p.M293V|AGPAT3_ENST00000546158.1_Missense_Mutation_p.M293V|AGPAT3_ENST00000398061.1_Missense_Mutation_p.M293V|AGPAT3_ENST00000327505.2_Missense_Mutation_p.M293V|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.M293V NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 293 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity p.M293V(1) large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TCAGAAGGGCATGTTTCCAGG 0.507000 79 113 0 0 0.139131 0 0 SLC5A1 6523 broad.mit.edu 37 22 32495224 32495224 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:32495224G>T ENST00000266088.4 + 12 1585 c.1335G>T c.(1333-1335)caG>caT p.Q445H SLC5A1_ENST00000543737.1_Missense_Mutation_p.Q318H NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 445 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding p.Q445H(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 CCATTGTGCAGTCAGCACAAA 0.483000 128 199 4.26933e-77 6.71955e-77 0.139131 1 0 CFH 3075 broad.mit.edu 37 1 196714946 196714946 + Splice_Site SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:196714946G>T ENST00000367429.4 + 21 3550 c.e21-1 NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H complement activation, alternative pathway extracellular space p.?(1) 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 ATGTTTTTTAGATTCTACAGG 0.383000 66 169 7.1157e-29 9.98404e-29 0.139131 1 0 CSMD3 114788 broad.mit.edu 37 8 113668392 113668392 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:113668392G>T ENST00000297405.5 - 18 3239 c.2995C>A c.(2995-2997)Cat>Aat p.H999N CSMD3_ENST00000343508.3_Missense_Mutation_p.H959N|CSMD3_ENST00000352409.3_Missense_Mutation_p.H999N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H895N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 999 CUB 5. integral to membrane|plasma membrane p.H959N(1)|p.H999N(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTTTCATAATGAATCTTGAAA 0.308000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 23 2.17888e-05 2.30405e-05 0.058154 1 0 GPANK1 7918 broad.mit.edu 37 6 31631770 31631770 + Silent SNP G G A rs142946824 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:31631770G>A ENST00000375906.1 - 3 1170 c.486C>T c.(484-486)ctC>ctT p.L162L GPANK1_ENST00000375893.2_Silent_p.L162L|GPANK1_ENST00000375896.4_Silent_p.L162L|GPANK1_ENST00000375895.2_Silent_p.L162L|GPANK1_ENST00000375900.4_Silent_p.L162L NM_001199237.1 NP_001186166.1 O95872 GPAN1_HUMAN G patch domain and ankyrin repeats 1 162 intracellular nucleic acid binding p.L162L(1) central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7) 12 CACGGCCCAGGAGATAGCTCA 0.662000 8 62 0 0 0.069234 0 0 CDH22 64405 broad.mit.edu 37 20 44828182 44828182 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:44828182C>T ENST00000372262.3 - 7 1703 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K CDH22_ENST00000537909.1_Missense_Mutation_p.E435K NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 435 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E435K(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) AAATCTGATTCGCGGTCAATG 0.607000 26 17 0 0 0.134883 0 0 GABRA5 2558 broad.mit.edu 37 15 27193365 27193365 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:27193365C>A ENST00000335625.5 + 11 2262 c.1374C>A c.(1372-1374)gcC>gcA p.A458A GABRA5_ENST00000400081.3_Silent_p.A458A|GABRA5_ENST00000355395.5_Silent_p.A458A NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 458 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.A458A(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TAAAAGGAGCCGCCTCTCCAA 0.483000 2 1 2.7689e-08 3.06526e-08 0.029380 1 0 KIAA0408 9729 broad.mit.edu 37 6 127765277 127765277 + Missense_Mutation SNP G G C rs151145731 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:127765277G>C ENST00000483725.3 - 6 2398 c.2062C>G c.(2062-2064)Cga>Gga p.R688G SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 688 protein binding p.R688G(1) endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) GCTTCGGATCGCAGAGAAATG 0.488000 13 14 0 0 0.105934 0 0 QKI 9444 broad.mit.edu 37 6 163983080 163983080 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:163983080A>G ENST00000361752.3 + 5 1164 c.613A>G c.(613-615)Aga>Gga p.R205G QKI_ENST00000275262.7_Missense_Mutation_p.R205G|QKI_ENST00000392127.2_Missense_Mutation_p.R205G|QKI_ENST00000361195.2_Missense_Mutation_p.R205G|QKI_ENST00000424802.3_Missense_Mutation_p.R205G|QKI_ENST00000453779.2_Missense_Mutation_p.R205G NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 205 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding p.R205G(2) central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) TGGCACCTACAGAGATGCCAA 0.443000 21 34 0 0 0.076483 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129950633 129950633 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:129950633C>A ENST00000368149.2 - 5 739 c.651G>T c.(649-651)ctG>ctT p.L217L NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 217 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding p.L217L(1) NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) CAGGTGGGATCAGCTTCTCTT 0.453000 59 61 1.08141e-31 1.54324e-31 0.139131 1 0 PAX6 5080 broad.mit.edu 37 11 31811521 31811521 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:31811521A>G ENST00000419022.1 - 14 1740 c.1272T>C c.(1270-1272)agT>agC p.S424S PAX6_ENST00000379129.2_Silent_p.S424S|PAX6_ENST00000379115.4_Silent_p.S424S|PAX6_ENST00000379132.3_Silent_p.S410S|PAX6_ENST00000379123.5_Silent_p.S410S|PAX6_ENST00000379111.2_Silent_p.S410S|PAX6_ENST00000241001.8_Silent_p.S410S|PAX6_ENST00000379107.2_Silent_p.S424S NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 410 blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity p.S424S(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) TATCAGGTTCACTTCCGGGAA 0.368000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 26 41 0 0 0.134883 0 0 RAB8A 4218 broad.mit.edu 37 19 16238849 16238849 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:16238849A>G ENST00000300935.3 + 6 701 c.428A>G c.(427-429)tAt>tGt p.Y143C CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.Y143C NM_005370.4 NP_005361.2 P61006 RAB8A_HUMAN RAB8A, member RAS oncogene family 143 cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane GTP binding|protein binding p.Y143C(1) endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 8 GCCCTCGACTATGGAATCAAG 0.617000 25 36 0 0 0.144211 0 0 C19orf47 126526 broad.mit.edu 37 19 40827997 40827997 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:40827997T>C ENST00000582783.1 - 9 1073 c.1061A>G c.(1060-1062)aAg>aGg p.K354R C19orf47_ENST00000584868.1_5'UTR|C19orf47_ENST00000392035.2_Missense_Mutation_p.K287R NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 354 p.K354R(1)|p.K287R(1) endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) GCCCAGTCTCTTGATGATGCT 0.617000 18 12 0 0 0.076483 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767525 77767525 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:77767525G>A ENST00000521891.2 + 10 8816 c.8368G>A c.(8368-8370)Gag>Aag p.E2790K ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2764K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2745K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2745K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2745 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E2774K(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCCTCCTGCTGAGGCTGGGTA 0.428000 HNSCC(33;0.089) 15 32 0 0 0.175082 0 0 HNRNPR 10236 broad.mit.edu 37 1 23650093 23650093 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:23650093T>C ENST00000478691.1 - 5 599 c.328A>G c.(328-330)Atc>Gtc p.I110V HNRNPR_ENST00000302271.6_Missense_Mutation_p.I211V|HNRNPR_ENST00000606561.1_Missense_Mutation_p.I72V|HNRNPR_ENST00000374612.1_Missense_Mutation_p.I211V|HNRNPR_ENST00000427764.2_Missense_Mutation_p.I173V|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000374616.3_Missense_Mutation_p.I211V NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 211 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding p.I211V(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) CAGAAGGTGATAAATGCATAC 0.443000 73 81 0 0 0.139131 0 0 HSPB7 27129 broad.mit.edu 37 1 16342122 16342122 + Missense_Mutation SNP G G C rs114208608 by1000genomes TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:16342122G>C ENST00000311890.9 - 3 1292 c.466C>G c.(466-468)Cat>Gat p.H156D HSPB7_ENST00000487046.1_Missense_Mutation_p.H161D|HSPB7_ENST00000375718.4_Missense_Mutation_p.H231D|HSPB7_ENST00000411503.1_Missense_Mutation_p.H151D|HSPB7_ENST00000406363.2_Missense_Mutation_p.H160D NM_014424.4 NP_055239.1 Q9UBY9 HSPB7_HUMAN heat shock 27kDa protein family, member 7 (cardiovascular) 156 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding p.H156D(1) breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) TGTTCTGTATGCGGGTGACGC 0.657000 11 64 0 0 0.105934 0 0 TNR 7143 broad.mit.edu 37 1 175334239 175334239 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:175334239T>A ENST00000367674.1 - 12 3202 c.2494A>T c.(2494-2496)Atg>Ttg p.M832L TNR_ENST00000263525.2_Missense_Mutation_p.M832L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 832 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.M832L(1) 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) TGCAGGCCCATCAGGACAGCA 0.562000 67 36 0 0 0.139131 0 0 INADL 10207 broad.mit.edu 37 1 62550300 62550300 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:62550300G>C ENST00000371158.2 + 33 4471 c.4357G>C c.(4357-4359)Gga>Cga p.G1453R INADL_ENST00000316485.6_Missense_Mutation_p.G1453R|INADL_ENST00000545929.1_Missense_Mutation_p.G126R|INADL_ENST00000543708.1_Missense_Mutation_p.G237R NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1453 PDZ 8. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding p.G1453R(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CAGCATTGTGGGAGGAAAAGA 0.463000 58 81 0 0 0.139131 0 0 TUSC3 7991 broad.mit.edu 37 8 15480671 15480671 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:15480671G>T ENST00000382020.4 + 2 429 c.221G>T c.(220-222)cGa>cTa p.R74L TUSC3_ENST00000509380.1_Missense_Mutation_p.R74L|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000503731.1_Missense_Mutation_p.R74L|TUSC3_ENST00000506802.1_Missense_Mutation_p.R74L NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 74 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex p.R74L(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) GATAAATTCCGAAAATTTATA 0.398000 37 50 1.52319e-26 2.09125e-26 0.104719 1 0 ARHGAP31 57514 broad.mit.edu 37 3 119013842 119013842 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:119013842G>A ENST00000264245.4 + 1 623 c.91G>A c.(91-93)Gga>Aga p.G31R NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 31 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity p.G31R(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GGAAAGCTCGGGACAGGATGG 0.542000 35 90 0 0 0.193644 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189694 58189694 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:58189694C>T ENST00000318203.5 + 5 1420 c.723C>T c.(721-723)taC>taT p.Y241Y NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 241 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Y241Y(1) endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACAACCCATACAACTCAAAAA 0.448000 40 9 0 0 0.111260 0 0 TTN 7273 broad.mit.edu 37 2 179640522 179640522 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179640522C>A ENST00000589042.1 - 28 6293 c.6069G>T c.(6067-6069)aaG>aaT p.K2023N TTN_ENST00000460472.2_Missense_Mutation_p.K1977N|TTN_ENST00000591111.1_Missense_Mutation_p.K2023N|TTN_ENST00000360870.5_Missense_Mutation_p.K2023N|TTN_ENST00000359218.5_Missense_Mutation_p.K1977N|TTN_ENST00000342992.6_Missense_Mutation_p.K2023N|TTN_ENST00000342175.6_Missense_Mutation_p.K1977N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1785 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K2023N(3)|p.K1977N(3) 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) AGGATTCATCCTTCTTTCGAG 0.463000 83 111 2.05912e-35 2.99358e-35 0.139131 1 0 PLAG1 5324 broad.mit.edu 37 8 57080660 57080660 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:57080660T>C ENST00000316981.3 - 4 648 c.169A>G c.(169-171)Aca>Gca p.T57A PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Missense_Mutation_p.T57A NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 57 Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|Interacts with KPNA2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T57A(2) CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) CTCTCTCCTGTGTGAGAGTAG 0.398000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 33 24 0 0 0.203993 0 0 FAM133A 286499 broad.mit.edu 37 X 92965007 92965007 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:92965007G>A ENST00000538690.1 + 5 1150 c.589G>A c.(589-591)Gaa>Aaa p.E197K FAM133A_ENST00000332647.4_Missense_Mutation_p.E197K|FAM133A_ENST00000355813.5_Missense_Mutation_p.E197K|FAM133A_ENST00000322139.4_Missense_Mutation_p.E197K NM_001171110.1 NP_001164581.1 Q8N9E0 F133A_HUMAN family with sequence similarity 133, member A 197 Lys-rich.|Ser-rich. p.E197K(1) breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1) 20 GTCCTCATCTGAATCAGATTA 0.363000 23 1 0 0 0.076483 0 0 CCNT2 905 broad.mit.edu 37 2 135677405 135677405 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:135677405A>G ENST00000264157.5 + 2 214 c.184A>G c.(184-186)Att>Gtt p.I62V CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.I62V NM_001241.3|NM_058241.2 NP_001232.1|NP_490595.1 O60583 CCNT2_HUMAN cyclin T2 62 cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding p.I62V(1) endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) AAACACTGCGATTGTTTATAT 0.348000 42 64 0 0 0.139131 0 0 BFSP2 8419 broad.mit.edu 37 3 133191318 133191318 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:133191318C>T ENST00000302334.2 + 6 1242 c.1153C>T c.(1153-1155)Caa>Taa p.Q385* BFSP2_ENST00000511434.1_3'UTR NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 385 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens p.Q385*(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 GGAGCAGCAGCAACAGGAGCG 0.672000 16 32 0 0 0.204396 0 0 DUOX1 53905 broad.mit.edu 37 15 45454558 45454558 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:45454558C>G ENST00000321429.4 + 32 4638 c.4231C>G c.(4231-4233)Caa>Gaa p.Q1411E CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1411E|DUOX1_ENST00000561166.1_Missense_Mutation_p.Q1057E NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 1411 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity p.Q1411E(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CGTCAGCTGCCAAGTGTTCTG 0.537000 35 15 0 0 0.235728 0 0 SEC31B 25956 broad.mit.edu 37 10 102255201 102255201 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:102255201C>A ENST00000370345.3 - 19 2510 c.2413G>T c.(2413-2415)Gct>Tct p.A805S NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 805 A -> V (in Ref. 2; CAB45735). protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane p.A805S(1) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) TGGAGGGTAGCTCCCACAACA 0.478000 16 7 1.01871e-10 1.17319e-10 0.204396 1 0 SCO1 6341 broad.mit.edu 37 17 10600752 10600752 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:10600752G>C ENST00000255390.5 - 1 133 c.73C>G c.(73-75)Cgc>Ggc p.R25G SCO1_ENST00000577427.1_Missense_Mutation_p.R25G NM_004589.2 NP_004580.1 O75880 SCO1_HUMAN SCO1 cytochrome c oxidase assembly protein 25 cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding p.R25G(2) cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 10 TCGAGTCCGCGAGGCAAGAAG 0.667000 3 3 0 0 0.115264 0 0 FLG2 388698 broad.mit.edu 37 1 152326311 152326311 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:152326311C>T ENST00000388718.5 - 3 4023 c.3951G>A c.(3949-3951)caG>caA p.Q1317Q FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1317 calcium ion binding|structural molecule activity p.Q1317Q(1) 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) TATCTCCTCTCTGTCCATGAG 0.473000 158 216 0 0 0.139131 0 0 NEBL 10529 broad.mit.edu 37 10 21074756 21074756 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:21074756C>A ENST00000377122.4 - 28 3361 c.2965G>T c.(2965-2967)Gat>Tat p.D989Y NEBL_ENST00000377159.4_Missense_Mutation_p.D211Y|NEBL_ENST00000417816.2_Missense_Mutation_p.D245Y NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 989 SH3. regulation of actin filament length actin binding|structural constituent of muscle p.D989Y(1)|p.D245Y(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATCCAGCCATCGTCAATAGGC 0.493000 25 43 4.22769e-11 4.92098e-11 0.116897 1 0 OR2M3 127062 broad.mit.edu 37 1 248367211 248367211 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:248367211T>G ENST00000456743.1 + 1 880 c.842T>G c.(841-843)cTc>cGc p.L281R NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L281R(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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) TACACCATCCTCACTCCCATG 0.493000 80 81 0 0 0.139131 0 0 NETO1 81832 broad.mit.edu 37 18 70526213 70526213 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:70526213C>A ENST00000327305.6 - 4 974 c.317G>T c.(316-318)gGa>gTa p.G106V NETO1_ENST00000583169.1_Missense_Mutation_p.G106V|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.G105V|NETO1_ENST00000299430.2_Missense_Mutation_p.G105V NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 106 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity p.G105V(1)|p.G106V(1) NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GCCAAAAGGTCCATCTCGAAC 0.378000 24 25 7.01153e-11 8.10919e-11 0.125774 1 0 CDYL 9425 broad.mit.edu 37 6 4892563 4892563 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:4892563C>T ENST00000328908.5 + 4 934 c.803C>T c.(802-804)cCc>cTc p.P268L CDYL_ENST00000472453.1_Intron|CDYL_ENST00000449732.2_Missense_Mutation_p.P82L|CDYL_ENST00000397588.3_Missense_Mutation_p.P214L|CDYL_ENST00000343762.5_Missense_Mutation_p.P82L Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 268 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity p.P268L(1) breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) CCTCAGGTGCCCGGCCCTGTG 0.642000 29 43 0 0 0.173368 0 0 SMG1 23049 broad.mit.edu 37 16 18864947 18864947 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:18864947T>G ENST00000446231.2 - 31 5138 c.4726A>C c.(4726-4728)Acg>Ccg p.T1576P SMG1_ENST00000389467.3_Missense_Mutation_p.T1576P Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1576 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.T1572P(1)|p.T1576P(1) NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TCTTCCATCGTATTAACAGAT 0.358000 6 9 0 0 0.029380 0 0 NFAT5 10725 broad.mit.edu 37 16 69726378 69726378 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:69726378G>A ENST00000349945.1 + 14 3920 c.2368G>A c.(2368-2370)Gaa>Aaa p.E790K NFAT5_ENST00000354436.2_Missense_Mutation_p.E866K|NFAT5_ENST00000393742.2_Missense_Mutation_p.E790K|NFAT5_ENST00000432919.1_Missense_Mutation_p.E884K|NFAT5_ENST00000566899.1_Missense_Mutation_p.E790K|NFAT5_ENST00000567239.1_Missense_Mutation_p.E883K NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 866 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.E790K(1)|p.E884K(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TGGAAGAGCTGAAAGTGTTCA 0.448000 33 98 0 0 0.173368 0 0 ZNF71 58491 broad.mit.edu 37 19 57133862 57133862 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:57133862G>T ENST00000328070.6 + 3 1441 c.1207G>T c.(1207-1209)Gtg>Ttg p.V403L NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 403 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V403L(1) endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GCACCAGATCGTGCACACCGG 0.642000 26 6 2.65835e-16 3.30316e-16 0.125774 1 0 EFTUD2 9343 broad.mit.edu 37 17 42971873 42971873 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:42971873T>C ENST00000426333.2 - 2 314 c.17A>G c.(16-18)tAt>tGt p.Y6C EFTUD2_ENST00000592576.1_Missense_Mutation_p.Y6C|EFTUD2_ENST00000591382.1_Missense_Mutation_p.Y6C|EFTUD2_ENST00000402521.3_Intron NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 6 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding p.Y6C(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) AAACTCATCATATAAGTCGGT 0.388000 85 118 0 0 0.139131 0 0 SUPT5H 6829 broad.mit.edu 37 19 39955488 39955488 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:39955488C>G ENST00000599117.1 + 12 1042 c.675C>G c.(673-675)atC>atG p.I225M SUPT5H_ENST00000359191.6_Missense_Mutation_p.I221M|SUPT5H_ENST00000598725.1_Missense_Mutation_p.I225M|SUPT5H_ENST00000432763.2_Missense_Mutation_p.I225M|SUPT5H_ENST00000402194.2_Missense_Mutation_p.I221M O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 225 Interaction with SUPT4H1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity p.I225M(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGGGCTACATCTACGTGGAGG 0.582000 30 52 0 0 0.173368 0 0 PRND 23627 broad.mit.edu 37 20 4705650 4705650 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:4705650G>A ENST00000305817.2 + 2 524 c.453G>A c.(451-453)agG>agA p.R151R NM_012409.2 NP_036541.2 Q9UKY0 PRND_HUMAN prion protein 2 (dublet) 151 Globular. protein homooligomerization anchored to membrane|plasma membrane p.R151R(1) breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 13 GGTTGGAGAGGGGCGCAGGAC 0.592000 28 55 0 0 0.125774 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800564 185800564 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:185800564C>A ENST00000302277.6 + 4 1035 c.441C>A c.(439-441)aaC>aaA p.N147K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 147 intracellular zinc ion binding p.N147K(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGAGAGAAAACTGTAATGAAA 0.363000 23 43 4.26978e-12 5.04019e-12 0.083992 1 0 HOXC10 3226 broad.mit.edu 37 12 54379159 54379159 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:54379159T>C ENST00000303460.4 + 1 190 c.116T>C c.(115-117)tTc>tCc p.F39S HOXC-AS3_ENST00000514702.1_RNA NM_017409.3 NP_059105.2 Q9NYD6 HXC10_HUMAN homeobox C10 39 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F39S(1) endometrium(2)|large_intestine(3)|lung(14)|pancreas(1) 20 GGGAGTGACTTCAATTGCGGG 0.642000 56 69 0 0 0.139131 0 0 IGSF6 10261 broad.mit.edu 37 16 21654460 21654460 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:21654460G>T ENST00000268389.4 - 5 662 c.601C>A c.(601-603)Cgt>Agt p.R201S METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron NM_005849.3 NP_005840.2 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 201 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity p.R201S(1) endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(48;0.066) TGAAAAATACGCCGAGCACTC 0.323000 20 40 1.96292e-10 2.23922e-10 0.219247 1 0 GUCY2C 2984 broad.mit.edu 37 12 14798242 14798242 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:14798242A>G ENST00000261170.3 - 16 1854 c.1718T>C c.(1717-1719)tTa>tCa p.L573S NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 573 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity p.L573S(1) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TGTGTCATTTAAAACTTCCTG 0.343000 25 77 0 0 0.083992 0 0 GAD1 2571 broad.mit.edu 37 2 171716263 171716263 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:171716263C>A ENST00000358196.3 + 17 2206 c.1656C>A c.(1654-1656)acC>acA p.T552T NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 552 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding p.T552T(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CAGGTACGACCATGGTTGGCT 0.488000 14 28 4.7546e-09 5.31771e-09 0.146539 1 0 IARS 3376 broad.mit.edu 37 9 95003138 95003138 + Splice_Site SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:95003138C>T ENST00000375643.3 - 30 3549 c.3283_splice c.e30+1 p.G1095_splice IARS_ENST00000375627.1_Splice_Site_p.G148_splice|IARS_ENST00000375629.3_Splice_Site_p.G148_splice|IARS_ENST00000447699.2_Splice_Site_p.G985_splice|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000443024.2_Splice_Site_p.G1095_splice NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 1095 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding p.G1095S(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) TTACTCTTACCTTGTTCACTG 0.358000 9 15 0 0 0.047766 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140794977 140794977 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140794977G>T ENST00000398610.2 + 1 2235 c.2235G>T c.(2233-2235)gtG>gtT p.V745V PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 p.V745V(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCACTTTGTGGGCGTGGACG 0.632000 49 52 1.51926e-22 2.01948e-22 0.139131 1 0 SLC1A6 6511 broad.mit.edu 37 19 15083604 15083604 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:15083604C>T ENST00000598504.1 - 4 1478 c.119G>A c.(118-120)cGc>cAc p.R40H SLC1A6_ENST00000221742.3_Missense_Mutation_p.R40H|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R40H|SLC1A6_ENST00000430939.2_Silent_p.A44A|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R40H NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 40 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.R40H(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GGTCTGCAGGCGCAGGCGCGT 0.682000 6 29 0 0 0.217242 0 0 CDH2 1000 broad.mit.edu 37 18 25532316 25532316 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:25532316T>A ENST00000269141.3 - 16 2945 c.2522A>T c.(2521-2523)aAa>aTa p.K841I CDH2_ENST00000399380.3_Missense_Mutation_p.K810I NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 841 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding p.K841I(1) NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTCAGCCGCTTTAAGGCCCTG 0.453000 OREG0003876 type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 16 42 0 0 0.204396 0 0 CDH11 1009 broad.mit.edu 37 16 65032652 65032652 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:65032652G>T ENST00000394156.3 - 4 789 c.336C>A c.(334-336)gcC>gcA p.A112A CDH11_ENST00000566827.1_5'UTR|CDH11_ENST00000268603.4_Silent_p.A112A P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 112 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding p.A112A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ACGTCTTGGTGGCATGAATGT 0.498000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 35 54 2.38352e-08 2.64133e-08 0.203993 1 0 DNAJC8 22826 broad.mit.edu 37 1 28537106 28537106 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:28537106C>G ENST00000263697.4 - 4 306 c.280G>C c.(280-282)Gac>Cac p.D94H DNAJC8_ENST00000489277.1_5'UTR NM_014280.2 NP_055095.2 O75937 DNJC8_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 8 94 J. nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding p.D94H(1) kidney(1)|large_intestine(3)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) TGTGCTCTGTCAGCATCATCT 0.393000 3 135 0 0 0.115264 0 0 CTAGE15 441294 broad.mit.edu 37 7 143268923 143268923 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:143268923G>T ENST00000420911.2 + 1 30 c.13G>T c.(13-15)Ggt>Tgt p.G5C NM_001008747.1 NP_001008747.1 CTAGE family, member 15 GGAGGAGCCCGGTGCTACCCC 0.597000 14 41 1.50039e-11 1.75584e-11 0.234183 1 0 TNXB 7148 broad.mit.edu 37 6 32029430 32029430 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:32029430C>A ENST00000375244.3 - 21 7437 c.7236G>T c.(7234-7236)ccG>ccT p.P2412P TNXB_ENST00000375247.2_Silent_p.P2412P P22105 TENX_HUMAN tenascin XB 2472 Fibronectin type-III 16. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.P2412P(1)|p.P2499P(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCCCCAGGAGCGGCTCCTCAG 0.647000 22 42 3.73148e-12 4.40956e-12 0.125774 1 0 HRNR 388697 broad.mit.edu 37 1 152187577 152187577 + Silent SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:152187577C>G ENST00000368801.2 - 3 6603 c.6528G>C c.(6526-6528)ggG>ggC p.G2176G FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2176 keratinization calcium ion binding|protein binding p.G2176G(1) 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) CAGATCCAGACCCTTGTCGGC 0.632000 16 267 0 0 0.183431 0 0 OR5K3 403277 broad.mit.edu 37 3 98109951 98109951 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:98109951G>T ENST00000383695.1 + 1 442 c.442G>T c.(442-444)Gcc>Tcc p.A148S RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A148S(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 GACTGCAGGAGCCTACCTAGC 0.468000 62 98 1.72039e-30 2.43591e-30 0.139131 1 0 KLHL13 90293 broad.mit.edu 37 X 117043468 117043468 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:117043468C>T ENST00000371876.1 - 4 3430 c.1009G>A c.(1009-1011)Gga>Aga p.G337R KLHL13_ENST00000545703.1_Missense_Mutation_p.G346R|KLHL13_ENST00000469946.1_Missense_Mutation_p.G337R|KLHL13_ENST00000371878.1_Missense_Mutation_p.G337R|KLHL13_ENST00000540167.1_Missense_Mutation_p.G372R|KLHL13_ENST00000539496.1_Missense_Mutation_p.G391R|KLHL13_ENST00000371882.1_Missense_Mutation_p.G337R|KLHL13_ENST00000541812.1_Missense_Mutation_p.G372R|KLHL13_ENST00000262820.3_Missense_Mutation_p.G388R Q9P2N7 KLH13_HUMAN kelch-like family member 13 388 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex p.G388R(1) 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 AGAAAATTTCCAATGACGGCG 0.438000 45 52 0 0 0.139131 0 0 PCDH11X 27328 broad.mit.edu 37 X 91134002 91134002 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:91134002G>T ENST00000373094.1 + 2 3608 c.2763G>T c.(2761-2763)tgG>tgT p.W921C PCDH11X_ENST00000395337.2_Missense_Mutation_p.W921C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.W921C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.W921C|PCDH11X_ENST00000361724.1_Missense_Mutation_p.W921C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.W921C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.W921C|PCDH11X_ENST00000504220.1_Missense_Mutation_p.W921C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.W921C NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 921 homophilic cell adhesion integral to plasma membrane calcium ion binding p.W921C(3) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 AGTACAATTGGGTAACTACAC 0.453000 70 78 2.64105e-45 3.99469e-45 0.139131 1 0 LRIT3 345193 broad.mit.edu 37 4 110791278 110791278 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:110791278G>A ENST00000327908.3 + 4 1588 c.824G>A c.(823-825)gGa>gAa p.G275E LRIT3_ENST00000594814.1_Missense_Mutation_p.G458E|LRIT3_ENST00000379920.3_Missense_Mutation_p.G413E|LRIT3_ENST00000409621.2_Missense_Mutation_p.G275E Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 413 Ig-like. integral to membrane p.G413E(1)|p.G275E(1) cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GCAAAGAATGGAAGTAAGCTT 0.463000 32 41 0 0 0.183431 0 0 DEPDC5 9681 broad.mit.edu 37 22 32270283 32270283 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:32270283A>G ENST00000400246.1 + 36 3730 c.3588A>G c.(3586-3588)gaA>gaG p.E1196E DEPDC5_ENST00000400248.1_Silent_p.E1165E|DEPDC5_ENST00000382105.2_Silent_p.E1118E|DEPDC5_ENST00000382112.3_Silent_p.E1187E|DEPDC5_ENST00000266091.3_Silent_p.E1174E|DEPDC5_ENST00000382111.2_Silent_p.E1196E|DEPDC5_ENST00000535622.1_Silent_p.E1096E|DEPDC5_ENST00000400249.2_Silent_p.E1165E|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000539165.1_Silent_p.E13E O75140 DEPD5_HUMAN DEP domain containing 5 1165 DEP. intracellular signal transduction p.E1096E(1)|p.E1165E(1) breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TGCTCTCTGAACAGAAGGGCC 0.567000 2 14 0 0 0.184627 0 0 MFSD10 10227 broad.mit.edu 37 4 2935498 2935498 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:2935498C>G ENST00000329687.4 - 1 687 c.153G>C c.(151-153)gaG>gaC p.E51D MFSD10_ENST00000508221.1_Missense_Mutation_p.E51D|MFSD10_ENST00000507555.1_Missense_Mutation_p.E51D|MFSD10_ENST00000355443.4_Missense_Mutation_p.E51D|MFSD10_ENST00000514800.1_Missense_Mutation_p.E51D NM_001120.4 NP_001111.3 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 10 51 apoptosis integral to membrane tetracycline transporter activity p.E51D(1) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGCCGTGGCTCTCCAACAGCC 0.692000 6 4 0 0 0.038147 0 0 ZNF202 7753 broad.mit.edu 37 11 123598298 123598298 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:123598298G>A ENST00000336139.4 - 7 1200 c.838C>T c.(838-840)Cca>Tca p.P280S ZNF202_ENST00000529691.1_Missense_Mutation_p.P280S|ZNF202_ENST00000530393.1_Missense_Mutation_p.P280S O95125 ZN202_HUMAN zinc finger protein 202 280 KRAB. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P280S(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CTGGGGATTGGAAATGCTGCT 0.483000 14 65 0 0 0.119110 0 0 SUV420H1 51111 broad.mit.edu 37 11 67938611 67938611 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:67938611G>A ENST00000304363.4 - 9 1201 c.848C>T c.(847-849)tCa>tTa p.S283L SUV420H1_ENST00000402789.1_Missense_Mutation_p.S283L|SUV420H1_ENST00000402185.2_Missense_Mutation_p.S260L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.S283L|SUV420H1_ENST00000401547.2_Missense_Mutation_p.S283L NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 283 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.S283L(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TCGACCAGTTGACACAAACTA 0.328000 38 36 0 0 0.098360 0 0 SHD 56961 broad.mit.edu 37 19 4288274 4288274 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:4288274G>C ENST00000543264.2 + 5 2214 c.751G>C c.(751-753)Gag>Cag p.E251Q SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Intron NM_020209.3 NP_064594.3 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming protein D 251 SH2. p.E251Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGGATGCAGAGAGCCTCCT 0.572000 12 63 0 0 0.105934 0 0 ASPM 259266 broad.mit.edu 37 1 197073145 197073145 + Missense_Mutation SNP T T G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:197073145T>G ENST00000367409.4 - 18 5492 c.5236A>C c.(5236-5238)Aag>Cag p.K1746Q ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1746 IQ 6. mitosis cytoplasm|nucleus calmodulin binding p.K1746Q(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CTCATCTGCTTTCGGACAAGG 0.368000 126 81 0 0 0.139131 0 0 VPS8 23355 broad.mit.edu 37 3 184714270 184714270 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:184714270G>A ENST00000437079.3 + 44 3988 c.3817G>A c.(3817-3819)Gat>Aat p.D1273N VPS8_ENST00000436792.2_Missense_Mutation_p.D1271N|VPS8_ENST00000287546.4_Missense_Mutation_p.D1273N|VPS8_ENST00000446204.2_Missense_Mutation_p.D1181N NM_001009921.2 NP_001009921.1 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 1273 zinc ion binding p.D1273N(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) AGAAATGGCTGATGAAATAAT 0.418000 7 128 0 0 0.038147 0 0 MYBL1 4603 broad.mit.edu 37 8 67488548 67488548 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:67488548G>C ENST00000522677.3 - 10 1574 c.1164C>G c.(1162-1164)atC>atG p.I388M MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.I388M NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 388 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.I388M(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) GGGTGGATTTGATAGGAGAAG 0.368000 8 222 0 0 0.047766 0 0 CENPF 1063 broad.mit.edu 37 1 214826243 214826243 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:214826243G>A ENST00000366955.3 + 16 8401 c.8233G>A c.(8233-8235)Gag>Aag p.E2745K CENPF_ENST00000467765.1_3'UTR NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2841 Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.E2745K(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ACAGAAGCTGGAGATAGACCT 0.338000 20 130 0 0 0.069288 0 0 ALMS1 7840 broad.mit.edu 37 2 73679045 73679045 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:73679045G>T ENST00000264448.6 + 8 5499 c.5388G>T c.(5386-5388)ggG>ggT p.G1796G ALMS1_ENST00000409009.1_Silent_p.G1754G|ALMS1_ENST00000377715.1_Silent_p.G1796G NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1796 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.G1796G(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AGAAGACTGGGGTATCAACAG 0.438000 92 120 1.80868e-48 2.74333e-48 0.139131 1 0 MCM5 4174 broad.mit.edu 37 22 35802719 35802719 + Splice_Site SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:35802719G>A ENST00000216122.4 + 5 750 c.e5+1 CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Splice_Site NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding p.?(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 AGTGCAACACGTGAGTCTGTG 0.587000 6 52 0 0 0.029380 0 0 CENPF 1063 broad.mit.edu 37 1 214818774 214818774 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:214818774C>T ENST00000366955.3 + 13 6029 c.5861C>T c.(5860-5862)tCa>tTa p.S1954L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2050 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.S1954L(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GAAGAACTCTCAGTGGTCACA 0.393000 23 142 0 0 0.099896 0 0 ARID2 196528 broad.mit.edu 37 12 46211516 46211516 + Nonsense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:46211516T>A ENST00000334344.6 + 5 654 c.482T>A c.(481-483)tTg>tAg p.L161* ARID2_ENST00000422737.1_Nonsense_Mutation_p.L12* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 161 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.L161*(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TATAATAAATTGGTGCTTTCA 0.353000 """N, S, F""" hepatocellular carcinoma 44 47 0 0 0.139131 0 0 ZNF112 7665 broad.mit.edu 37 19 44834051 44834051 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:44834051C>A ENST00000354340.4 - 4 310 c.259G>T c.(259-261)Gta>Tta p.V87L CTC-512J12.6_ENST00000588212.1_Missense_Mutation_p.V92L|ZNF112_ENST00000337401.4_Missense_Mutation_p.V93L|ZNF112_ENST00000536500.1_Missense_Mutation_p.V110L NM_013380.3 NP_037512.3 zinc finger protein 112 p.V87L(1)|p.V93L(1) CTTACTGTTACTTCCTGAATA 0.403000 16 7 5.3912e-06 5.74568e-06 0.175082 1 0 PFKL 5211 broad.mit.edu 37 21 45738419 45738419 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr21:45738419G>A ENST00000403390.1 + 11 1144 c.1144G>A c.(1144-1146)Gtg>Atg p.V382M PFKL_ENST00000349048.4_Missense_Mutation_p.V335M P17858 K6PL_HUMAN phosphofructokinase, liver 335 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding p.V382M(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) GCCGGCCTGCGTGGTCACCCT 0.672000 9 6 0 0 0.119110 0 0 MMP25 64386 broad.mit.edu 37 16 3108841 3108841 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:3108841C>G ENST00000336577.4 + 10 1668 c.1431C>G c.(1429-1431)ttC>ttG p.F477L RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 477 Hemopexin-like 4. inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.F477L(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 ACACCTACTTCTTCAAGGGCG 0.697000 5 5 0 0 0.184627 0 0 ERC1 23085 broad.mit.edu 37 12 1137189 1137189 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:1137189G>T ENST00000397203.2 + 2 526 c.120G>T c.(118-120)ggG>ggT p.G40G ERC1_ENST00000543086.3_Silent_p.G40G|ERC1_ENST00000589028.1_Silent_p.G40G|ERC1_ENST00000355446.5_Silent_p.G40G|ERC1_ENST00000546231.2_Silent_p.G40G|ERC1_ENST00000360905.4_Silent_p.G40G Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 40 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding p.G40G(1) NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GTACGGGAGGGAGTTCGGGAA 0.557000 18 84 2.48551e-13 2.97275e-13 0.160694 1 0 NCOA3 8202 broad.mit.edu 37 20 46276056 46276056 + Silent SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:46276056A>T ENST00000372004.3 + 18 3708 c.3492A>T c.(3490-3492)acA>acT p.T1164T NCOA3_ENST00000371997.3_Silent_p.T1159T|NCOA3_ENST00000341724.6_Silent_p.T1094T|NCOA3_ENST00000371998.3_Silent_p.T1164T NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1164 Acetyltransferase. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.T1164T(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GACCCCGGACAAACACCCCCA 0.488000 39 45 0 0 0.098360 0 0 WAC 51322 broad.mit.edu 37 10 28905206 28905206 + Nonsense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:28905206C>G ENST00000375664.3 + 12 2135 c.1526C>G c.(1525-1527)tCa>tGa p.S509* WAC_ENST00000375646.1_Nonsense_Mutation_p.S402*|WAC_ENST00000347934.4_Nonsense_Mutation_p.S451*|WAC_ENST00000354911.4_Nonsense_Mutation_p.S554* Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 554 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding p.S554*(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 TCCACGTGTTCATTAACGCCT 0.438000 59 71 0 0 0.139131 0 0 ALDH9A1 223 broad.mit.edu 37 1 165667628 165667628 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:165667628G>A ENST00000354775.4 - 1 472 c.168C>T c.(166-168)ttC>ttT p.F56F ALDH9A1_ENST00000461664.1_5'UTR NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 32 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity p.F32F(1)|p.F56F(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) TTGCTGGCTCGAAAGCTTTCT 0.697000 14 9 0 0 0.189662 0 0 ALK 238 broad.mit.edu 37 2 30143288 30143288 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:30143288G>T ENST00000389048.3 - 1 1144 c.238C>A c.(238-240)Ctg>Atg p.L80M ALK_ENST00000431873.1_Missense_Mutation_p.L80M NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 80 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.L80M(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCAGCCTTCAGCTCCGAGGAG 0.706000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 7 10 0.00307968 0.00314631 0.038147 1 0 EPHA2 1969 broad.mit.edu 37 1 16462249 16462249 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:16462249C>A ENST00000358432.5 - 6 1483 c.1329G>T c.(1327-1329)agG>agT p.R443S NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 443 Fibronectin type-III 2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding p.R443S(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGCCCTCCAGCCTCACCTTGG 0.652000 26 29 1.26454e-06 1.36646e-06 0.108266 1 0 CENPF 1063 broad.mit.edu 37 1 214814818 214814818 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:214814818C>T ENST00000366955.3 + 12 3305 c.3137C>T c.(3136-3138)gCa>gTa p.A1046V NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1046 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.A1046V(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TACAAAGCAGCACAGGAAAAG 0.333000 17 79 0 0 0.160694 0 0 OR2C1 4993 broad.mit.edu 37 16 3406108 3406108 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:3406108T>A ENST00000304936.2 + 1 220 c.168T>A c.(166-168)caT>caA p.H56Q NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H56Q(1) kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCCGGCTCCATACACCCATGT 0.498000 112 161 0 0 0.139131 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216413 20216413 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:20216413A>G ENST00000331723.1 + 1 827 c.827A>G c.(826-828)tAc>tGc p.Y276C NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y276C(1) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCTTGTTTTACACAGTGATT 0.428000 45 132 0 0 0.124865 0 0 WWP2 11060 broad.mit.edu 37 16 69833148 69833148 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:69833148G>T ENST00000359154.2 + 4 391 c.290G>T c.(289-291)gGc>gTc p.G97V WWP2_ENST00000569174.1_Missense_Mutation_p.G97V|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.G97V|WWP2_ENST00000448661.1_Missense_Mutation_p.G97V NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 97 C2. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity p.G97V(1) breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GAACTGCTAGGCACCGCATCT 0.468000 OREG0023909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 55 8.78508e-14 1.05538e-13 0.139131 1 0 CST9 128822 broad.mit.edu 37 20 23584171 23584171 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:23584171G>A ENST00000376971.3 - 2 467 c.456C>T c.(454-456)gcC>gcT p.A152A NM_001008693.2 NP_001008693.2 Q5W186 CST9_HUMAN cystatin 9 (testatin) 152 extracellular region cysteine-type endopeptidase inhibitor activity p.A152A(1) central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) CCCTCGGAATGGCTTTGTCAG 0.582000 24 30 0 0 0.091800 0 0 ENTHD1 150350 broad.mit.edu 37 22 40231877 40231877 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:40231877G>T ENST00000325157.6 - 4 929 c.679C>A c.(679-681)Cca>Aca p.P227T NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 227 p.P227T(1) breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) ATCTTGAGTGGAAGTGTTTCC 0.378000 105 140 4.58075e-42 6.88062e-42 0.139131 1 0 PDE6G 5148 broad.mit.edu 37 17 79620334 79620334 + Missense_Mutation SNP A A G rs150256730 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:79620334A>G ENST00000573076.1 - 2 627 c.152T>C c.(151-153)aTg>aCg p.M51T PDE6G_ENST00000571224.1_Start_Codon_SNP_p.M1T|PDE6G_ENST00000571004.1_Start_Codon_SNP_p.M1T|PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000331056.5_Start_Codon_SNP_p.M1T P18545 CNRG_HUMAN phosphodiesterase 6G, cGMP-specific, rod, gamma 1 platelet activation|visual perception cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity p.M1T(1) lung(2)|urinary_tract(1) 3 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TTCCAGGTTCATGGTGAGGCT 0.667000 55 3 0 0 0.139131 0 0 SH2B1 25970 broad.mit.edu 37 16 28883956 28883956 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:28883956C>T ENST00000337120.5 + 7 5118 c.1827C>T c.(1825-1827)atC>atT p.I609I SH2B1_ENST00000359285.5_Silent_p.I609I|SH2B1_ENST00000395532.4_Silent_p.I609I|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Silent_p.I609I|SH2B1_ENST00000545570.1_Silent_p.I299I|SH2B1_ENST00000538342.1_Silent_p.I273I NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 609 SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity p.I609I(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 TGCACCCCATCCCTTTGGAGT 0.602000 52 54 0 0 0.139131 0 0 UBXN2B 137886 broad.mit.edu 37 8 59358602 59358602 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:59358602A>T ENST00000399598.2 + 7 930 c.808A>T c.(808-810)Ata>Tta p.I270L NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 270 UBX. cytosol|endoplasmic reticulum|Golgi apparatus|nucleus p.I270L(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 GAGTCGTTTGATACAAAGATT 0.358000 23 32 0 0 0.091800 0 0 TEX15 56154 broad.mit.edu 37 8 30703090 30703090 + Silent SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:30703090T>A ENST00000256246.2 - 1 3518 c.3444A>T c.(3442-3444)tcA>tcT p.S1148S NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1148 Ser-rich. p.S1148S(1) NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TATAATAAACTGACTGACTTG 0.413000 37 49 0 0 0.246493 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41609955 41609955 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr22:41609955G>C ENST00000216237.5 + 3 479 c.321G>C c.(319-321)aaG>aaC p.K107N L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 107 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding p.K107N(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCAAGACCAAGAGGTTCTGCA 0.512000 57 82 0 0 0.139131 0 0 TRAV25 28658 broad.mit.edu 37 14 22580304 22580304 + RNA SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:22580304T>A ENST00000390454.2 + 0 5 ACCGCAACTATTTCTATTGAT 0.423000 18 22 0 0 0.204396 0 0 MYT1 4661 broad.mit.edu 37 20 62859386 62859386 + Nonstop_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:62859386T>A ENST00000360149.4 + 16 1992 c.1774T>A c.(1774-1776)Taa>Aaa p.*592K MYT1_ENST00000328439.1_Intron|MYT1_ENST00000536311.1_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 0 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GTGTGTTTTATAATGTAAAAA 0.428000 20 31 0 0 0.204396 0 0 PNRC1 10957 broad.mit.edu 37 6 89790770 89790770 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:89790770C>T ENST00000336032.3 + 1 274 c.157C>T c.(157-159)Ccg>Tcg p.P53S PNRC1_ENST00000369472.1_Intron NM_006813.2 NP_006804.1 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.P53S(1) endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.102) GGCACTGCCCCCGACCCTCTT 0.692000 Multiple Myeloma(7;0.094) 33 44 0 0 0.225048 0 0 BRD4 23476 broad.mit.edu 37 19 15350203 15350203 + Splice_Site SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:15350203C>A ENST00000263377.2 - 17 3797 c.3576_splice c.e17+1 p.K1192_splice NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 1192 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding p.?(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CCATCCCAACCTTTTTGGGCG 0.632000 T C15orf55 lethal midline carcinoma of young people 40 81 1.51926e-22 2.01948e-22 0.139131 1 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36352517 36352517 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:36352517C>A ENST00000312412.4 - 11 1269 c.1270G>T c.(1270-1272)Ggc>Tgc p.G424C RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.G269C|TBC1D3_ENST00000537432.1_5'UTR p.G424C(2) kidney(1)|lung(3) 4 GATGGATGGCCCACACTGACC 0.418000 6 20 2.0095e-06 2.15431e-06 0.029380 1 0 FBN2 2201 broad.mit.edu 37 5 127626463 127626463 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:127626463A>T ENST00000508053.1 - 56 7380 c.6406T>A c.(6406-6408)Tgg>Agg p.W2136R FBN2_ENST00000262464.4_Missense_Mutation_p.W2136R P35556 FBN2_HUMAN fibrillin 2 2136 TB 8. 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 p.W2136R(2) 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) GGGTCCCCCCAGCCCTCTCCT 0.458000 36 61 0 0 0.203993 0 0 DNM1 1759 broad.mit.edu 37 9 131009749 131009749 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr9:131009749A>T ENST00000341179.7 + 17 1969 c.1877A>T c.(1876-1878)tAc>tTc p.Y626F DNM1_ENST00000486160.1_Missense_Mutation_p.Y626F|DNM1_ENST00000393594.3_Missense_Mutation_p.Y626F|DNM1_ENST00000372923.3_Missense_Mutation_p.Y626F|DNM1_ENST00000475805.1_Missense_Mutation_p.Y626F NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 626 receptor-mediated endocytosis microtubule GTP binding|GTPase activity p.Y626F(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GCTGGCGTGTACCCTGAGCGT 0.597000 10 21 0 0 0.069234 0 0 FAT3 120114 broad.mit.edu 37 11 92531208 92531208 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:92531208C>A ENST00000298047.6 + 9 5046 c.5029C>A c.(5029-5031)Caa>Aaa p.Q1677K FAT3_ENST00000409404.2_Missense_Mutation_p.Q1677K|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1527K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1677 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.Q1677K(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAAAGACTACCAAGCAGAAGT 0.428000 TCGA Ovarian(4;0.039) 28 59 1.16021e-09 1.31249e-09 0.125774 1 0 CABS1 85438 broad.mit.edu 37 4 71201045 71201045 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:71201045A>G ENST00000273936.4 + 1 348 c.289A>G c.(289-291)Acc>Gcc p.T97A NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 97 flagellum calcium ion binding p.T97A(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GAAAGAAATTACCTCTCTGAC 0.373000 32 37 0 0 0.183431 0 0 COL2A1 1280 broad.mit.edu 37 12 48391491 48391491 + Splice_Site SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:48391491C>A ENST00000380518.3 - 7 594 c.e7-1 COL2A1_ENST00000337299.6_Splice_Site NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding p.?(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CAGGGGCACCCTTGGCATAAA 0.587000 81 92 1.13027e-35 1.64761e-35 0.139131 1 0 PHF6 84295 broad.mit.edu 37 X 133559234 133559234 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:133559234A>G ENST00000332070.3 + 10 1174 c.972A>G c.(970-972)ctA>ctG p.L324L PHF6_ENST00000416404.2_Silent_p.L290L|PHF6_ENST00000370803.3_Silent_p.L324L|PHF6_ENST00000394292.1_Silent_p.L325L NM_032458.2 NP_115834.1 Q8IWS0 PHF6_HUMAN PHD finger protein 6 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding p.L324L(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) ATTGTAGACTATACTGTAAAA 0.368000 """F, N, Splice, Mis""" ETP ALL 59 3 0 0 0.139131 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450738 85450738 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:85450738G>A ENST00000393217.2 + 8 2228 c.2167G>A c.(2167-2169)Gat>Aat p.D723N NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 723 p.D723N(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) ACCTGAACCTGATAGCATGAC 0.353000 75 153 0 0 0.139131 0 0 CDH10 1008 broad.mit.edu 37 5 24511577 24511577 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:24511577G>T ENST00000264463.4 - 6 1368 c.861C>A c.(859-861)gcC>gcA p.A287A NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 287 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A287A(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CACTTCCAATGGCTGTGCCAA 0.418000 HNSCC(23;0.051) 21 45 1.01871e-10 1.17319e-10 0.204396 1 0 OSBPL7 114881 broad.mit.edu 37 17 45891033 45891033 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:45891033G>C ENST00000007414.3 - 15 1710 c.1519C>G c.(1519-1521)Ctg>Gtg p.L507V OSBPL7_ENST00000392507.3_Missense_Mutation_p.L507V NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 507 lipid transport lipid binding p.L507V(1) autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 AGCCGCTGCAGAGTGTTGAGC 0.617000 9 30 0 0 0.119110 0 0 SEMA7A 8482 broad.mit.edu 37 15 74703902 74703902 + Silent SNP G G A rs145844323 byFrequency TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr15:74703902G>A ENST00000261918.4 - 12 2120 c.1572C>T c.(1570-1572)tcC>tcT p.S524S SEMA7A_ENST00000542748.1_Silent_p.S359S|SEMA7A_ENST00000543145.2_Silent_p.S510S NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 524 axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity p.S524S(1) breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 CGTACCGTTCGGAGCTGTAGA 0.652000 31 39 0 0 0.203993 0 0 MYO16 23026 broad.mit.edu 37 13 109445881 109445881 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr13:109445881C>A ENST00000356711.2 + 6 694 c.568C>A c.(568-570)Ctg>Atg p.L190M MYO16_ENST00000357550.2_Missense_Mutation_p.L190M|MYO16_ENST00000251041.5_Missense_Mutation_p.L190M NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 190 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.L190M(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TTTGACCTCACTGCGCCAGAT 0.433000 134 112 1.88352e-63 2.94741e-63 0.139131 1 0 FAM198B 51313 broad.mit.edu 37 4 159076790 159076790 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:159076790C>T ENST00000296530.8 - 3 1719 c.1098G>A c.(1096-1098)aaG>aaA p.K366K FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000585682.1_Silent_p.K366K|FAM198B_ENST00000393807.5_Silent_p.K374K NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 366 Golgi membrane|integral to membrane p.K366K(1)|p.K374K(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 AGAGTGCCATCTTGGACCACT 0.408000 27 39 0 0 0.134883 0 0 DIRAS3 9077 broad.mit.edu 37 1 68512710 68512710 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:68512710C>T ENST00000370981.1 - 4 907 c.271G>A c.(271-273)Gac>Aac p.D91N DIRAS3_ENST00000395201.1_Missense_Mutation_p.D91N|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 91 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CTCTTGCTGTCGGTGATGTGC 0.602000 4 205 0 0 0.150653 0 0 FASTKD2 22868 broad.mit.edu 37 2 207652826 207652826 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:207652826G>T ENST00000236980.6 + 9 2108 c.1760G>T c.(1759-1761)gGa>gTa p.G587V FASTKD2_ENST00000402774.3_Missense_Mutation_p.G587V|FASTKD2_ENST00000403094.3_Missense_Mutation_p.G587V NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 587 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity p.G587L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) AGCCTTCTGGGAGGTGAAGGA 0.453000 14 21 4.36969e-10 4.96909e-10 0.105934 1 0 ANO3 63982 broad.mit.edu 37 11 26463463 26463463 + Splice_Site SNP A A C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:26463463A>C ENST00000256737.3 + 2 898 c.e2-1 ANO3_ENST00000525139.1_Splice_Site|ANO3_ENST00000537978.1_Splice_Site|ANO3_ENST00000531646.1_Splice_Site NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 chloride channel complex chloride channel activity p.?(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TTGGATTTGCAGGTATGAATA 0.368000 62 82 0 0 0.139131 0 0 GRM8 2918 broad.mit.edu 37 7 126173425 126173425 + Missense_Mutation SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:126173425T>A ENST00000339582.2 - 9 2819 c.2011A>T c.(2011-2013)Aac>Tac p.N671Y GRM8_ENST00000358373.3_Missense_Mutation_p.N671Y|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.N671Y O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 671 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.N671Y(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGGATACGGTTTGTTTTGGTC 0.478000 HNSCC(24;0.065) 45 52 0 0 0.139131 0 0 BAGE2 85319 broad.mit.edu 37 21 11058268 11058268 + RNA SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr21:11058268C>A ENST00000470054.1 - 0 379 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATCTGGGTACATTTCTCTTC 0.423000 6 100 0.000157383 0.000163402 0.038147 1 0 MYH6 4624 broad.mit.edu 37 14 23872970 23872970 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:23872970G>T ENST00000405093.3 - 9 823 c.753C>A c.(751-753)atC>atA p.I251I MYH6_ENST00000356287.3_Silent_p.I251I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 251 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.I251>?(1)|p.H252Y(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCCCAAAGTGGATCCTAATGA 0.582000 7 13 1.08611e-07 1.19626e-07 0.080935 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120300499 120300499 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:120300499C>A ENST00000397843.2 + 10 908 c.742C>A c.(742-744)Cag>Aag p.Q248K ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q145K|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q229K NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 248 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.Q248K(1) NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ACACATTCCTCAGCTGCAAGA 0.408000 T MLL AML 19 43 5.35356e-11 6.21814e-11 0.076483 1 0 USP7 7874 broad.mit.edu 37 16 8988689 8988689 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:8988689C>A ENST00000344836.4 - 29 3261 c.3063G>T c.(3061-3063)atG>atT p.M1021I USP7_ENST00000381886.4_Missense_Mutation_p.M1005I|USP7_ENST00000535863.1_Missense_Mutation_p.M922I NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 1021 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.M1021I(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 GGATTCGCTTCATCACTTCTC 0.592000 63 129 1.77791e-30 2.51408e-30 0.139131 1 0 PYHIN1 149628 broad.mit.edu 37 1 158906820 158906820 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:158906820A>T ENST00000368140.1 + 2 365 c.120A>T c.(118-120)aaA>aaT p.K40N PYHIN1_ENST00000392252.3_Missense_Mutation_p.K40N|PYHIN1_ENST00000368135.4_Missense_Mutation_p.K40N|PYHIN1_ENST00000368138.3_Missense_Mutation_p.K40N|PYHIN1_ENST00000392254.2_Missense_Mutation_p.K40N NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 40 DAPIN. cell cycle nuclear speck p.K40N(1) breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CAAAAATGAAAGAAGAGTATG 0.328000 24 79 0 0 0.099896 0 0 PCLO 27445 broad.mit.edu 37 7 82544020 82544020 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:82544020C>A ENST00000423517.2 - 7 13619 c.13282G>T c.(13282-13284)Gcc>Tcc p.A4428S PCLO_ENST00000333891.8_Missense_Mutation_p.A4428S|PCLO_ENST00000437081.1_Missense_Mutation_p.A1148S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4359 PDZ. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.A4428S(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCTGACATGGCATGTTGGAAG 0.438000 10 13 1.5842e-08 1.76456e-08 0.105934 1 0 MMRN1 22915 broad.mit.edu 37 4 90874329 90874329 + Nonsense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:90874329C>A ENST00000394980.1 + 9 3766 c.3447C>A c.(3445-3447)taC>taA p.Y1149* MMRN1_ENST00000394981.1_Nonsense_Mutation_p.Y452*|MMRN1_ENST00000508372.1_Nonsense_Mutation_p.Y891*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.Y1149* Q13201 MMRN1_HUMAN multimerin 1 1149 C1q. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen p.Y1149*(1) 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) TTTTCAAGTACACCATCGAGT 0.338000 14 50 2.31682e-05 2.43334e-05 0.132662 1 0 PRR25 388199 broad.mit.edu 37 16 855729 855729 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:855729C>G ENST00000301698.1 + 1 287 c.287C>G c.(286-288)aCa>aGa p.T96R NM_001013638.1 NP_001013660.1 Q96S07 PRR25_HUMAN proline rich 25 96 p.T96R(1) large_intestine(1)|lung(1)|skin(1) 3 AGCTCAGGAACAGCGCAGCCG 0.652000 5 17 0 0 0.038147 0 0 IGHV3-30 28439 broad.mit.edu 37 14 106791255 106791255 + RNA SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:106791255C>A ENST00000390613.2 - 0 180 CAGGGACCTCCCAGGCTGGAC 0.592000 21 96 1.68575e-08 1.87575e-08 0.125774 1 0 GCN1L1 10985 broad.mit.edu 37 12 120596319 120596319 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:120596319C>A ENST00000300648.6 - 25 2862 c.2850G>T c.(2848-2850)gcG>gcT p.A950A NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 950 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding p.A950A(1) NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCAGCATCACCGCCCTCTTCA 0.642000 3 7 0.004672 0.0047686 0.115264 1 0 OR10S1 219873 broad.mit.edu 37 11 123847636 123847636 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:123847636A>T ENST00000531945.1 - 1 852 c.763T>A c.(763-765)Tgc>Agc p.C255S NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C255S(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGGGCAGTGCAGGGGGAGAAG 0.627000 41 63 0 0 0.246493 0 0 GH2 2689 broad.mit.edu 37 17 61958249 61958249 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:61958249C>T ENST00000332800.7 - 4 472 c.339G>A c.(337-339)ctG>ctA p.L113L GH2_ENST00000449787.2_Silent_p.L98L|GH2_ENST00000423893.2_Silent_p.L113L|GH2_ENST00000456543.2_Silent_p.L113L NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 113 extracellular region hormone activity p.L113L(2) breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 GCACGGGCTCCAGCCATGACT 0.637000 44 47 0 0 0.139131 0 0 TMEM99 147184 broad.mit.edu 37 17 38990925 38990925 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:38990925C>G ENST00000301665.3 + 3 461 c.157C>G c.(157-159)Caa>Gaa p.Q53E NM_001195386.1|NM_001195387.1|NM_145274.3 NP_001182315.1|NP_001182316.1|NP_660317.2 Q8N816 TMM99_HUMAN transmembrane protein 99 53 integral to membrane p.Q53E(1) cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) CTCCCTTCCTCAAGTATTCTT 0.478000 69 24 0 0 0.139131 0 0 ANGPT4 51378 broad.mit.edu 37 20 853669 853669 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:853669G>T ENST00000381922.3 - 9 1548 c.1446C>A c.(1444-1446)caC>caA p.H482Q ANGPT4_ENST00000546022.1_3'UTR NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 482 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.H482Q(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 CCTTGAAGTAGTGCCAGCGGA 0.582000 33 57 5.34276e-22 7.05868e-22 0.139131 1 0 SMARCA1 6594 broad.mit.edu 37 X 128649712 128649712 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:128649712C>T ENST00000371122.4 - 5 711 c.582G>A c.(580-582)ttG>ttA p.L194L SMARCA1_ENST00000371123.1_Silent_p.L194L|SMARCA1_ENST00000371121.3_Silent_p.L194L|SMARCA1_ENST00000478420.1_5'UTR NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 194 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding p.L194L(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 ATAAAGAGATCAACCAATTCA 0.353000 110 13 0 0 0.139131 0 0 ANK1 286 broad.mit.edu 37 8 41550662 41550662 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:41550662G>C ENST00000396942.1 - 30 3673 c.3590C>G c.(3589-3591)gCc>gGc p.A1197G ANK1_ENST00000347528.4_Missense_Mutation_p.A1197G|ANK1_ENST00000289734.7_Missense_Mutation_p.A1197G|ANK1_ENST00000265709.8_Missense_Mutation_p.A1238G|ANK1_ENST00000396945.1_Missense_Mutation_p.A1197G|ANK1_ENST00000379758.2_Missense_Mutation_p.A1197G|ANK1_ENST00000352337.4_Missense_Mutation_p.A1197G P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1197 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.A1238G(1)|p.A1197G(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCACTCGTTGGCATATACAAG 0.562000 12 83 0 0 0.105934 0 0 ARHGEF38 54848 broad.mit.edu 37 4 106473981 106473981 + Missense_Mutation SNP C C T rs147662568 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:106473981C>T ENST00000420470.2 + 1 203 c.59C>T c.(58-60)gCc>gTc p.A20V ARHGEF38_ENST00000265154.2_Missense_Mutation_p.A20V NM_001242729.1 NP_001229658.1 Q9NXL2 ARH38_HUMAN Rho guanine nucleotide exchange factor (GEF) 38 20 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.A20V(2) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3) 11 AAGAATCTGGCCTTCTTGAGG 0.498000 26 31 0 0 0.099896 0 0 RPTN 126638 broad.mit.edu 37 1 152128437 152128437 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:152128437C>A ENST00000316073.3 - 3 1202 c.1138G>T c.(1138-1140)Ggt>Tgt p.G380C NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 380 Gln-rich. proteinaceous extracellular matrix calcium ion binding p.G380C(1) breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCTGGCTGACCATAGTGGGAA 0.473000 435 688 1.03697e-209 1.65124e-209 0.139131 1 0 PCDH11X 27328 broad.mit.edu 37 X 91873567 91873567 + Silent SNP T T A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:91873567T>A ENST00000373094.1 + 7 4517 c.3672T>A c.(3670-3672)ccT>ccA p.P1224P PCDH11X_ENST00000373097.1_Silent_p.P1214P|PCDH11X_ENST00000361655.2_Silent_p.P1206P|PCDH11X_ENST00000298274.8_Silent_p.P1187P|PCDH11X_ENST00000373088.1_Silent_p.P1187P|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.P1216P NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1224 homophilic cell adhesion integral to plasma membrane calcium ion binding p.P1224P(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACAGTCCTCCTCTAGTGCAGG 0.587000 155 16 0 0 0.139131 0 0 CHAT 1103 broad.mit.edu 37 10 50857656 50857656 + Missense_Mutation SNP A A T rs151031033 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:50857656A>T ENST00000395562.2 + 11 1708 c.1239A>T c.(1237-1239)ttA>ttT p.L413F CHAT_ENST00000339797.1_Missense_Mutation_p.L377F|CHAT_ENST00000395559.2_Missense_Mutation_p.L377F|CHAT_ENST00000351556.3_Missense_Mutation_p.L377F|CHAT_ENST00000455728.2_Missense_Mutation_p.L377F|CHAT_ENST00000337653.2_Missense_Mutation_p.L495F NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 495 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity p.L495F(1) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) AAGGCCACTTAGCCTCCTCGG 0.612000 39 76 0 0 0.098360 0 0 PTPRK 5796 broad.mit.edu 37 6 128411061 128411061 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:128411061C>A ENST00000368227.3 - 8 1605 c.1239G>T c.(1237-1239)ttG>ttT p.L413F PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.L413F|PTPRK_ENST00000532331.1_Missense_Mutation_p.L413F|PTPRK_ENST00000368207.3_Missense_Mutation_p.L413F|PTPRK_ENST00000368213.5_Missense_Mutation_p.L413F|PTPRK_ENST00000368210.3_Missense_Mutation_p.L413F|PTPRK_ENST00000368226.4_Missense_Mutation_p.L413F Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 413 Fibronectin type-III 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.L413F(1) PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TGTTGTAACCCAAGGATTCCC 0.438000 25 49 7.41945e-09 8.27261e-09 0.108266 1 0 SKAP1 8631 broad.mit.edu 37 17 46474064 46474064 + Missense_Mutation SNP C C G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:46474064C>G ENST00000336915.6 - 2 199 c.130G>C c.(130-132)Ggc>Cgc p.G44R SKAP1_ENST00000584924.1_Missense_Mutation_p.G44R NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 44 positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding p.G44C(1)|p.G44L(1) large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 TGCTGAAAGCCCCGTAGAATA 0.383000 57 99 0 0 0.139131 0 0 HIST1H4H 8365 broad.mit.edu 37 6 26285712 26285712 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:26285712T>C ENST00000289352.1 - 1 50 c.16A>G c.(16-18)Aaa>Gaa p.K6E HIST1H4H_ENST00000377727.1_Missense_Mutation_p.K6E P62805 H4_HUMAN histone cluster 1, H4h 6 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding p.K6E(1) lung(2)|ovary(2)|upper_aerodigestive_tract(3) 7 TTTCCACCTTTACCACGGCCA 0.498000 HNSCC(76;0.23) 40 54 0 0 0.104719 0 0 CCDC141 285025 broad.mit.edu 37 2 179732787 179732787 + Missense_Mutation SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179732787A>G ENST00000420890.2 - 16 2657 c.2540T>C c.(2539-2541)tTa>tCa p.L847S CCDC141_ENST00000295723.5_Missense_Mutation_p.L272S NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 272 Ig-like. protein binding p.L272S(1)|p.L847S(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GTCGACTCCTAAGGAAAGGGC 0.507000 35 40 0 0 0.225048 0 0 LAMC1 3915 broad.mit.edu 37 1 183099634 183099634 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:183099634G>A ENST00000258341.4 + 19 3693 c.3436G>A c.(3436-3438)Gaa>Aaa p.E1146K NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1146 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent p.E1146K(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGGTTGATTGAAATCGCATC 0.498000 37 99 0 0 0.203993 0 0 SLC9A9 285195 broad.mit.edu 37 3 143271268 143271268 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr3:143271268C>A ENST00000316549.6 - 9 1233 c.1025G>T c.(1024-1026)gGa>gTa p.G342V NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 342 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity p.G342V(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TTGTGTGACTCCACAGAAGAG 0.348000 15 36 8.00594e-06 8.51562e-06 0.189662 1 0 CAMK2B 816 broad.mit.edu 37 7 44282850 44282850 + Splice_Site SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:44282850A>T ENST00000395749.2 - 8 676 c.601_splice c.e8+1 p.C200_splice CAMK2B_ENST00000258682.6_Splice_Site_p.C200_splice|CAMK2B_ENST00000502837.2_Splice_Site_p.C71_splice|CAMK2B_ENST00000395747.2_Splice_Site_p.C200_splice|CAMK2B_ENST00000350811.3_Splice_Site_p.C200_splice|CAMK2B_ENST00000440254.2_Splice_Site_p.C200_splice|CAMK2B_ENST00000358707.3_Splice_Site_p.C200_splice|CAMK2B_ENST00000346990.4_Splice_Site_p.C200_splice|CAMK2B_ENST00000353625.4_Splice_Site_p.C200_splice|CAMK2B_ENST00000457475.1_Splice_Site_p.C200_splice|CAMK2B_ENST00000347193.4_Splice_Site_p.C200_splice NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 200 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.C200*(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 AGGCCTCACCACATGCCCAGA 0.612000 11 24 0 0 0.119110 0 0 MED12 9968 broad.mit.edu 37 X 70345900 70345900 + Nonsense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:70345900C>T ENST00000333646.6 + 18 2636 c.2437C>T c.(2437-2439)Cag>Tag p.Q813* MED12_ENST00000374102.1_Nonsense_Mutation_p.Q813*|MED12_ENST00000374080.3_Nonsense_Mutation_p.Q813* NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 813 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.Q813*(2) breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GGAGGATGGGCAGAAGCGGCG 0.552000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 103 26 0 0 0.139131 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815333 179815333 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:179815333G>A ENST00000367612.3 - 6 1673 c.1286C>T c.(1285-1287)tCt>tTt p.S429F NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 429 endoplasmic reticulum membrane|integral to membrane protein binding p.S429C(1)|p.S429F(1) cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 GGGAGTGTCAGAGTTGGTAAA 0.502000 55 128 0 0 0.139131 0 0 TIFAB 497189 broad.mit.edu 37 5 134785271 134785271 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:134785271G>A ENST00000537858.1 - 2 559 c.359C>T c.(358-360)aCa>aTa p.T120I NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 120 p.T120I(1) breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTCCAGGGATGTGCCTTCTTC 0.557000 58 108 0 0 0.139131 0 0 ABCC1 4363 broad.mit.edu 37 16 16130398 16130398 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:16130398G>A ENST00000399408.2 + 7 922 c.747G>A c.(745-747)acG>acA p.T249T ABCC1_ENST00000351154.5_Silent_p.T249T|ABCC1_ENST00000345148.5_Silent_p.T249T|ABCC1_ENST00000346370.5_Silent_p.T249T|ABCC1_ENST00000349029.5_Silent_p.T249T|ABCC1_ENST00000399410.3_Silent_p.T249T P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 249 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances p.T249T(1) breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AGGAGGACACGTCGGAACAAG 0.547000 39 70 0 0 0.246493 0 0 GSS 2937 broad.mit.edu 37 20 33533834 33533834 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:33533834T>C ENST00000216951.2 - 3 295 c.197A>G c.(196-198)tAt>tGt p.Y66C GSS_ENST00000541098.1_5'UTR|GSS_ENST00000451957.2_Missense_Mutation_p.Y66C NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 66 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity p.Y66C(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) CTGCACAGCATAGGCTTGCTC 0.557000 87 133 0 0 0.139131 0 0 ZNF75D 7626 broad.mit.edu 37 X 134425434 134425434 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:134425434C>A ENST00000370766.3 - 5 3369 c.660G>T c.(658-660)tgG>tgT p.W220C ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Intron NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 220 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.W220C(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 ATGCCATCTTCCAGTGTTTGA 0.448000 48 7 9.16383e-17 1.14128e-16 0.139131 1 0 HARS2 23438 broad.mit.edu 37 5 140076603 140076603 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140076603G>A ENST00000230771.3 + 9 1125 c.902G>A c.(901-903)gGa>gAa p.G301E HARS2_ENST00000448069.2_Missense_Mutation_p.G129E|HARS2_ENST00000435019.2_Missense_Mutation_p.G261E|HARS2_ENST00000508522.1_Missense_Mutation_p.G276E|HARS2_ENST00000432671.2_Missense_Mutation_p.G187E|HARS2_ENST00000437649.2_Missense_Mutation_p.G227E NM_012208.2 NP_036340.1 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2, mitochondrial 301 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity p.G301E(1) NS(1)|endometrium(3)|large_intestine(5)|lung(10) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGGCCTGGGAGACCTAAAG 0.483000 9 388 0 0 0.058154 0 0 DNAH8 1769 broad.mit.edu 37 6 38863991 38863991 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:38863991T>C ENST00000359357.3 + 58 8533 c.8279T>C c.(8278-8280)aTa>aCa p.I2760T DNAH8_ENST00000441566.1_Missense_Mutation_p.I2724T|DNAH8_ENST00000449981.2_Missense_Mutation_p.I2977T dynein, axonemal, heavy chain 8 p.I2760T(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTACCCAAAATATATGAATTG 0.398000 53 71 0 0 0.139131 0 0 FARSA 2193 broad.mit.edu 37 19 13035003 13035003 + Silent SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:13035003C>T ENST00000588025.1 - 13 1610 c.1470G>A c.(1468-1470)gaG>gaA p.E490E FARSA_ENST00000423140.2_Silent_p.E419E|FARSA_ENST00000314606.4_Silent_p.E450E Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 450 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding p.E450E(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) CCGACACGTTCTCGGGAAGCC 0.597000 65 97 0 0 0.139131 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319012 21319012 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:21319012C>A ENST00000583088.1 + 3 1253 c.358C>A c.(358-360)Cgc>Agc p.R120S KCNJ12_ENST00000331718.5_Missense_Mutation_p.R120S NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 p.R120S(1) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GGGCCGGGGCCGCACACCCTG 0.652000 Prostate(3;0.18) 3 41 2.0095e-06 2.15431e-06 0.029380 1 0 OLFM3 118427 broad.mit.edu 37 1 102302475 102302476 + Frame_Shift_Ins INS - - G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:102302475_102302476insG ENST00000370103.4 - 2 388_389 c.175_176insC c.(175-177)ggafs p.G59fs OLFM3_ENST00000359814.3_Frame_Shift_Ins_p.G79fs|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000338858.5_Frame_Shift_Ins_p.G79fs|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 79 extracellular region p.R59L(1)|p.R79L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TTTGGCATCCCGGGAACACAGG 0.475 16 61 --- --- --- --- OR6Y1 391112 broad.mit.edu 37 1 158517172 158517172 + Frame_Shift_Del DEL C C - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:158517172delC ENST00000302617.3 - 1 723 c.724delG c.(724-726)cafs p.A242fs NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GTGGAGAATGCCTTTTGGCGG 0.512 34 113 --- --- --- --- FAM71A 149647 broad.mit.edu 37 1 212798729 212798750 + Frame_Shift_Del DEL AATTTACCTCTTGCGGCCACCC AATTTACCTCTTGCGGCCACCC - rs138522825 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:212798729_212798750delAATTTACCTCTTGCGGCCACCC ENST00000294829.3 + 1 941_962 c.510_531delAATTTACCTCTTGCGGCCACCC c.(508-531)ctfs p.LIYLLRPP170fs RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 170 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GGGAAAAACTAATTTACCTCTTGCGGCCACCCATGGAGAGTA 0.523 67 223 --- --- --- --- ZP4 57829 broad.mit.edu 37 1 238045820 238045820 + Frame_Shift_Del DEL C C - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr1:238045820delC ENST00000366570.4 - 12 1683 c.1525delG c.(1525-1527)tgfs p.V509fs RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 509 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGGCCTGCCACCCACAGAACT 0.448 51 132 --- --- --- --- CRIPT 9419 broad.mit.edu 37 2 46846808 46846809 + Frame_Shift_Ins INS - - A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:46846808_46846809insA ENST00000238892.3 + 3 257_258 c.125_126insA c.(124-126)taafs p.*42fs CRIPT_ENST00000486447.1_3'UTR NM_014171.4 NP_054890.1 Q9P021 CRIPT_HUMAN cysteine-rich PDZ-binding protein 42 cell junction|cytoplasm|dendritic spine kidney(1)|large_intestine(1)|lung(2) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GCTTTGACTTCAAAAAAAGCAA 0.322 14 32 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179577936 179577951 + Frame_Shift_Del DEL GGTGGTCTGGTATTTC GGTGGTCTGGTATTTC - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr2:179577936_179577951delGGTGGTCTGGTATTTC ENST00000589042.1 - 93 27134_27149 c.26910_26925delGAAATACCAGACCACC c.(26908-26925)agfs p.RKYQTT8970fs TTN_ENST00000342992.6_Frame_Shift_Del_p.RKYQTT7726fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.RKYQTT8653fs|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8653 Ig-like 72. 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) TATCTGTCAGGGTGGTCTGGTATTTCCTTCCACTAC 0.435 9 31 --- --- --- --- LPHN3 23284 broad.mit.edu 37 4 62845363 62845390 + Frame_Shift_Del DEL GCATCTTCACATTTTGCTTTTTCCGGGG GCATCTTCACATTTTGCTTTTTCCGGGG - rs1397547 by1000genomes TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr4:62845363_62845390delGCATCTTCACATTTTGCTTTTTCCGGGG ENST00000512091.1 + 17 3431_3458 c.2684_2711delGCATCTTCACATTTTGCTTTTTCCGGGG c.(2683-2712)tgfs p.CIFTFCFFRG895fs LPHN3_ENST00000514996.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000504896.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000508946.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000514157.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000506720.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000545650.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000507625.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000506700.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000509896.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000506746.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000514591.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000508693.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000511324.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000507164.1_Frame_Shift_Del_p.CIFTFCFFRG963fs Q9HAR2 LPHN3_HUMAN latrophilin 3 882 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CTCCTGATTTGCATCTTCACATTTTGCTTTTTCCGGGGGCTCCAGAGT 0.482 11 181 --- --- --- --- MARCH11 441061 broad.mit.edu 37 5 16067851 16067851 + Frame_Shift_Del DEL C C - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:16067851delC ENST00000332432.8 - 4 1137 c.938delG c.(937-939)cafs p.R313fs NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 313 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 ATTCACAGCTCGCCAGCGCTT 0.423 15 24 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 90119264 90119264 + Frame_Shift_Del DEL T T - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:90119264delT ENST00000405460.2 + 76 16315 c.16219delT c.(16219-16221)ttfs p.F5407fs GPR98_ENST00000425867.2_Frame_Shift_Del_p.F1068fs NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5407 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTCAAGGTCTTTTGGCGAGT 0.468 40 57 --- --- --- --- PCDHB15 56121 broad.mit.edu 37 5 140627001 140627002 + Frame_Shift_Del DEL GC GC - rs17844634 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr5:140627001_140627002delGC ENST00000231173.3 + 1 1855_1856 c.1855_1856delGC c.(1855-1857)gfs p.A619fs NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 619 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A619E(1)|p.A619V(1) NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCGTGTGGGCGCACAATGGC 0.693 32 49 --- --- --- --- SLC35F1 222553 broad.mit.edu 37 6 118598709 118598709 + Splice_Site DEL G G - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:118598709delG ENST00000360388.4 + 6 1048 c.847_splice c.e6+1 p.G283_splice NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 283 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) CTGGCAAATAGGTAAGGAGTT 0.433 87 146 --- --- --- --- MYB 4602 broad.mit.edu 37 6 135522779 135522779 + Frame_Shift_Del DEL G G - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr6:135522779delG ENST00000341911.5 + 14 2152 c.1953delG c.(1951-1953)gtfs p.V651fs MYB_ENST00000367814.4_Frame_Shift_Del_p.V530fs|MYB_ENST00000534044.1_Intron|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000527615.1_Frame_Shift_Del_p.V530fs|MYB_ENST00000525369.1_Frame_Shift_Del_p.V445fs|MYB_ENST00000534121.1_Frame_Shift_Del_p.V635fs|MYB_ENST00000528774.1_Frame_Shift_Del_p.V648fs|MYB_ENST00000533624.1_Frame_Shift_Del_p.V495fs|MYB_ENST00000442647.2_Frame_Shift_Del_p.V527fs|MYB_ENST00000316528.8_Frame_Shift_Del_p.V530fs NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 538 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) GCTTTTAGGTGGAATCTCCAA 0.433 T NFIB adenoid cystic carcinoma 15 37 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66772495 66772495 + RNA DEL T T - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:66772495delT ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) GCTTGATTCCTTTTTTTTTTT 0.423 2 4 --- --- --- --- FAM115C 285966 broad.mit.edu 37 7 143417404 143417405 + Frame_Shift_Del DEL CT CT - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr7:143417404_143417405delCT ENST00000441159.2 + 3 1318_1319 c.1252_1253delCT c.(1252-1254)cfs p.L418fs FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C 418 endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 CCGCAAGGCGCTCTCTCAATTC 0.530 4 2 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139629159 139629159 + Frame_Shift_Del DEL G G - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:139629159delG ENST00000303045.6 - 54 4314 c.3868delC c.(3868-3870)ggfs p.R1290fs COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Frame_Shift_Del_p.R1270fs NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1290 Collagen-like 12.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCACTTACCCGGGGACCGGGT 0.577 HNSCC(7;0.00092) 19 71 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 144991960 144991961 + Frame_Shift_Del DEL GC GC - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr8:144991960_144991961delGC ENST00000322810.4 - 32 12608_12609 c.12439_12440delGC c.(12439-12441)cfs p.A4147fs PLEC_ENST00000354958.2_Frame_Shift_Del_p.A3988fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.A4010fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.A4010fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.A3996fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.A4037fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.A4033fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.A4014fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.A3978fs NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4147 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 CCCAGTGACGGCGCGCTCGGCC 0.614 30 54 --- --- --- --- LARP4B 23185 broad.mit.edu 37 10 858953 858961 + In_Frame_Del DEL CCTCTGGTC CCTCTGGTC - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:858953_858961delCCTCTGGTC ENST00000316157.3 - 17 2162_2170 c.2122_2130delGACCAGAGG c.(2122-2130)del p.DQR708del NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 708 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 ccgccggccgccTCTGGTCTCTGGGGGCT 0.651 37 66 --- --- --- --- ADARB2 105 broad.mit.edu 37 10 1279783 1279783 + Frame_Shift_Del DEL G G - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:1279783delG ENST00000381312.1 - 6 1691 c.1366delC c.(1366-1368)ggfs p.R457fs ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 457 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) TCCTCGCGCCGCTTGCTAGGG 0.507 50 73 --- --- --- --- DMBT1 1755 broad.mit.edu 37 10 124358327 124358327 + Frame_Shift_Del DEL A A - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:124358327delA ENST00000338354.3 + 26 3100 c.2994delA c.(2992-2994)ggfs p.G999fs DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Frame_Shift_Del_p.G999fs|DMBT1_ENST00000368956.2_Frame_Shift_Del_p.G500fs|DMBT1_ENST00000344338.3_Frame_Shift_Del_p.G989fs|DMBT1_ENST00000368955.3_Frame_Shift_Del_p.G989fs|DMBT1_ENST00000330163.4_Frame_Shift_Del_p.G500fs Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 999 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding p.G998G(3) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGTGAATGGAGGTGACAGGT 0.537 7 468 --- --- --- --- ADAM8 101 broad.mit.edu 37 10 135086366 135086366 + Frame_Shift_Del DEL T T - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr10:135086366delT ENST00000445355.3 - 8 691 c.641delA c.(640-642)cgfs p.Q214fs ADAM8_ENST00000415217.3_Frame_Shift_Del_p.Q214fs|ADAM8_ENST00000485491.2_Frame_Shift_Del_p.Q175fs NM_001109.4 NP_001100.3 B4DVM6 B4DVM6_HUMAN ADAM metallopeptidase domain 8 175 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) CCCCAGCATCTGGAACTGGGG 0.682 15 11 --- --- --- --- BRSK2 9024 broad.mit.edu 37 11 1467122 1467122 + Frame_Shift_Del DEL C C - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:1467122delC ENST00000308219.9 + 12 1597 c.1211delC c.(1210-1212)gcfs p.A404fs BRSK2_ENST00000531197.1_Frame_Shift_Del_p.A404fs|BRSK2_ENST00000528841.1_Frame_Shift_Del_p.A404fs|BRSK2_ENST00000308230.5_Frame_Shift_Del_p.A404fs|BRSK2_ENST00000528710.1_Frame_Shift_Del_p.A344fs|BRSK2_ENST00000544817.1_Frame_Shift_Del_p.A99fs|BRSK2_ENST00000382179.1_Frame_Shift_Del_p.A450fs|BRSK2_ENST00000526678.1_Frame_Shift_Del_p.A404fs NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 404 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) ATTGAGATGGCCCAGCACGGC 0.716 39 48 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14101781 14101782 + RNA INS - - T rs72219431 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:14101781_14101782insT ENST00000310358.7 + 0 1211 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TAttttttttcttttttttttt 0.441 2 4 --- --- --- --- OR4X1 390113 broad.mit.edu 37 11 48285662 48285662 + Frame_Shift_Del DEL T T - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:48285662delT ENST00000320048.1 + 1 250 c.250delT c.(250-252)ttfs p.F84fs NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 CTTTGACTCCTTTATCAAGAG 0.473 45 64 --- --- --- --- PCNXL3 399909 broad.mit.edu 37 11 65384435 65384435 + Frame_Shift_Del DEL G G - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:65384435delG ENST00000355703.3 + 2 833 c.294delG c.(292-294)atfs p.M98fs NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 98 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GCTCTACCATGGGGGAGCTGG 0.587 13 23 --- --- --- --- DLG2 1740 broad.mit.edu 37 11 84027970 84027971 + Frame_Shift_Ins INS - - A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:84027970_84027971insA ENST00000280241.8 - 1 217_218 c.218_219insT c.(217-219)ttgfs p.L73fs DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.L73fs|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CACTGTCCCACAAGGTCCTGTT 0.604 60 105 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 5 8 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26714783 26714784 + Frame_Shift_Ins INS - - A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:26714783_26714784insA ENST00000381340.3 - 35 5148_5149 c.4732_4733insT c.(4732-4734)gagfs p.E1578fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1578 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) TGATAGTCTCCAACCCATTGCT 0.436 26 31 --- --- --- --- ANO6 196527 broad.mit.edu 37 12 45797234 45797234 + Frame_Shift_Del DEL G G - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:45797234delG ENST00000320560.8 + 15 1997 c.1795delG c.(1795-1797)gcfs p.G599fs ANO6_ENST00000423947.3_Frame_Shift_Del_p.G620fs|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Frame_Shift_Del_p.G599fs|ANO6_ENST00000435642.1_Frame_Shift_Del_p.G599fs|ANO6_ENST00000441606.2_Frame_Shift_Del_p.G581fs NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 599 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity p.G599C(2) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TGACCCAGGTGGCTGTCTTCT 0.343 43 58 --- --- --- --- PPFIA2 8499 broad.mit.edu 37 12 81741530 81741530 + Frame_Shift_Del DEL C C - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr12:81741530delC ENST00000550584.2 - 17 2309 c.2014delG c.(2014-2016)aafs p.E672fs PPFIA2_ENST00000550359.2_Frame_Shift_Del_p.E519fs|PPFIA2_ENST00000549396.1_Frame_Shift_Del_p.E672fs|PPFIA2_ENST00000407050.4_Frame_Shift_Del_p.E598fs|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Frame_Shift_Del_p.E654fs|PPFIA2_ENST00000549325.1_Frame_Shift_Del_p.E654fs|PPFIA2_ENST00000552948.1_Frame_Shift_Del_p.E672fs|PPFIA2_ENST00000443686.3_Frame_Shift_Del_p.E573fs|PPFIA2_ENST00000541570.2_Frame_Shift_Del_p.E239fs|PPFIA2_ENST00000548586.1_Frame_Shift_Del_p.E672fs|PPFIA2_ENST00000541017.1_5'UTR NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 598 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TCTGTAGATTCTTTTTCTTCC 0.388 26 85 --- --- --- --- DLST 1743 broad.mit.edu 37 14 75360126 75360126 + Splice_Site DEL G G - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr14:75360126delG ENST00000334220.4 + 9 732 c.672_splice c.e9+1 p.R224_splice DLST_ENST00000334212.6_Splice_Site_p.R138_splice|DLST_ENST00000555190.1_3'UTR NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 224 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) TCAGAACATCGGGTAAGCCTC 0.517 38 69 --- --- --- --- RBBP6 5930 broad.mit.edu 37 16 24583448 24583448 + Frame_Shift_Del DEL A A - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr16:24583448delA ENST00000319715.4 + 18 5493 c.5061delA c.(5059-5061)atfs p.I1687fs RBBP6_ENST00000348022.2_Frame_Shift_Del_p.I1653fs|RBBP6_ENST00000381039.3_Frame_Shift_Del_p.I847fs NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1687 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AGGTGGGCATAAGCAGGAATC 0.527 45 90 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577537 7577537 + Frame_Shift_Del DEL C C - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:7577537delC ENST00000420246.2 - 7 876 c.744delG c.(742-744)cgfs p.R249fs TP53_ENST00000359597.4_Frame_Shift_Del_p.R249fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R249fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.R249fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R249fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R249fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 249 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.R248R(8)|p.?(5)|p.R248Q(5)|p.N247_R248delNR(2)|p.M246_P250delMNRRP(2)|p.R248L(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R248C(1)|p.R249fs*14(1)|p.R249fs*15(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGATGGGCCTCCGGTTCATGC 0.572 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 30 18 --- --- --- --- LRRC37A16P 651250 broad.mit.edu 37 17 66131215 66131215 + RNA DEL G G - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:66131215delG ENST00000590019.1 - 0 298 GCTCCTCTTCGGGGATCTTGC 0.572 13 19 --- --- --- --- CARD14 79092 broad.mit.edu 37 17 78175564 78175564 + Frame_Shift_Del DEL C C - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr17:78175564delC ENST00000573882.1 + 16 2409 c.1873delC c.(1873-1875)ccfs p.P625fs CARD14_ENST00000344227.2_Frame_Shift_Del_p.P625fs|CARD14_ENST00000570421.1_Frame_Shift_Del_p.P625fs|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000392434.2_Intron Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 625 PDZ. DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326). activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AGCCTCAGAGCCCTTGTTCAA 0.597 66 24 --- --- --- --- LAMA1 284217 broad.mit.edu 37 18 7036007 7036008 + Frame_Shift_Ins INS - - A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:7036007_7036008insA ENST00000389658.3 - 13 1910_1911 c.1817_1818insT c.(1816-1818)tcafs p.S606fs NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 606 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.S606S(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGTCAGCATGCGACATGAGGTT 0.436 12 58 --- --- --- --- ZNF521 25925 broad.mit.edu 37 18 22804911 22804911 + Frame_Shift_Del DEL G G - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr18:22804911delG ENST00000361524.3 - 4 3119 c.2971delC c.(2971-2973)ggfs p.R991fs ZNF521_ENST00000538137.2_Frame_Shift_Del_p.R991fs|ZNF521_ENST00000584787.1_Frame_Shift_Del_p.R771fs NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 991 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGCAAATCCGGCAGTTTCCA 0.478 T PAX5 ALL 41 59 --- --- --- --- TRAPPC6A 79090 broad.mit.edu 37 19 45667459 45667460 + Frame_Shift_Ins INS - - T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr19:45667459_45667460insT ENST00000006275.4 - 4 376_377 c.358_359insA c.(358-360)ggcfs p.G120fs TRAPPC6A_ENST00000588062.1_Frame_Shift_Ins_p.G83fs|TRAPPC6A_ENST00000592647.1_Frame_Shift_Ins_p.G97fs|TRAPPC6A_ENST00000585934.1_Frame_Shift_Ins_p.G106fs NM_024108.1 NP_077013.1 O75865 TPC6A_HUMAN trafficking protein particle complex 6A 106 SFPLLLPMASGLQYLEEAPKFLAFT -> KLSPPPPDGLWP AVSGGSTQVPGLH (in Ref. 1; AAF28967). vesicle-mediated transport endoplasmic reticulum|Golgi apparatus guanylate cyclase activity|heme binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 8 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233) GCCAGAGGCCATCGGGAGGAGG 0.634 16 6 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG CGG - rs63544660 TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:278688_278690delCGG ENST00000382352.3 + 1 952_954 c.461_463delCGG c.(460-465)ccg>c p.PA154del NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 154 nucleic acid binding|zinc ion binding p.A159delA(3) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGATGAgccggcggcggcggc 0.768 2 4 --- --- --- --- APCDD1L-AS1 149773 broad.mit.edu 37 20 57159888 57159891 + RNA DEL CTTC CTTC - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chr20:57159888_57159891delCTTC ENST00000427140.1 + 0 943 NR_034147.1 tcccttctttcttccttccttcct 0.534 7 14 --- --- --- --- ALG13 79868 broad.mit.edu 37 X 110951500 110951502 + In_Frame_Del DEL ACT ACT - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:110951500_110951502delACT ENST00000394780.3 + 4 641_643 c.629_631delACT c.(628-633)aac>a p.NY210del ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_In_Frame_Del_p.NY106del NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 210 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 GGATGGAAAAACTACTGCAGCCA 0.478 26 84 --- --- --- --- SPANXN2 494119 broad.mit.edu 37 X 142795501 142795501 + Frame_Shift_Del DEL C C - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b7be121-49af-4a44-95dd-0a487d47228f abaccb0a-5f60-45d6-aea2-6fb33a82b011 g.chrX:142795501delC ENST00000370498.1 - 2 930 c.177delG c.(175-177)aafs p.K59fs NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 59 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTTTCGTATGCTTCCTGTAGT 0.448 161 28 --- --- --- ---