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 ACHILLES_Top_Genes 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_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PLEKHN1 84069 broad.mit.edu 37 1 905907 905907 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:905907A>T uc001ace.2 + 4 372 c.337A>T c.(337-339)AGC>TGC p.S113C PLEKHN1_uc001acd.2_Missense_Mutation_p.S113C|PLEKHN1_uc001acf.2_Missense_Mutation_p.S113C NM_032129 NP_115505 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N 113 PH 1. 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) GCAGGATGTCAGCGACTGCTA 0.672 NA 29 54 0 0 0.009535 0 0 UBE2J2 118424 broad.mit.edu 37 1 1192480 1192480 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:1192480C>A uc001adn.2 - 5 616 c.306G>T c.(304-306)CCG>CCT p.P102P UBE2J2_uc001adm.2_Silent_p.P67P|UBE2J2_uc001ado.2_Silent_p.P118P|UBE2J2_uc001adp.2_Silent_p.P102P|UBE2J2_uc001adq.2_Silent_p.P50P|UBE2J2_uc001adr.2_Silent_p.P50P|UBE2J2_uc001ads.2_Silent_p.P50P NM_194458 NP_919440 Q8N2K1 UB2J2_HUMAN ubiquitin conjugating enzyme E2, J2 isoform 3 102 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) TCCACGTGTCCGGGTGGAAAT 0.642 NA 63 145 2.37532e-16 3.32545e-16 0.01441 1 0 Unknown 0 broad.mit.edu 37 1 1854885 1854885 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:1854885G>C uc001aik.2 - 8 1291 c.441C>G c.(439-441)TTC>TTG p.F147L uc001ail.2_Missense_Mutation_p.F147L RecName: Full=Uncharacterized protein C1orf222; NA CGCCCTCCACGAACATCATGT 0.637 NA 5 14 0 0 0.001984 0 0 C1orf200 644997 broad.mit.edu 37 1 9713992 9713992 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:9713992G>A uc001aqc.3 - 2 499 c.349C>T c.(349-351)CGC>TGC p.R117C PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.3_Intron NR_027045 RecName: Full=Putative uncharacterized protein C1orf200; 0 all_lung(157;0.222) Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419) Ggctgagagcggtagctcata 0.234 NA 15 26 0 0 0.004007 0 0 LOC649330 649330 broad.mit.edu 37 1 12908093 12908093 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:12908093C>A uc009vno.2 - 1 145 c.50G>T c.(49-51)CGT>CTT p.R17L HNRNPCL1_uc010obf.1_Missense_Mutation_p.R17L NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 17 nucleic acid binding|nucleotide binding 0 AATGAACACACGGGAGTTCAT 0.468 NA 16 174 1.67942e-08 2.01256e-08 0.006122 1 0 CROCC 9696 broad.mit.edu 37 1 17257855 17257855 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:17257855C>T uc001azt.2 + 8 988 c.919C>T c.(919-921)CGG>TGG p.R307W CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Missense_Mutation_p.R70W NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 307 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 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) GGTGGGGTTCCGGCGGCTGGT 0.622 NA 22 103 0 0 0.007291 0 0 PAX7 5081 broad.mit.edu 37 1 19062359 19062359 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:19062359C>A uc001bay.2 + 8 1987 c.1389C>A c.(1387-1389)GGC>GGA p.G463G PAX7_uc001baz.2_Silent_p.G461G|PAX7_uc010oct.1_Silent_p.G463G NM_002584 NP_002575 P23759 PAX7_HUMAN paired box 7 isoform 1 463 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1) 203 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) ATCAGTACGGCCAGTACGGCC 0.637 NA T FOXO1A alveolar rhabdomyosarcoma 13 68 1.33834e-09 1.64862e-09 0.007413 1 0 TAS1R2 80834 broad.mit.edu 37 1 19181144 19181144 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:19181144C>T uc001bba.1 - 3 821 c.820G>A c.(820-822)GTG>ATG p.V274M NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 274 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGCGAGAACACGACCACGACG 0.627 NA 4 52 0 0 0.009096 0 0 USP48 84196 broad.mit.edu 37 1 22083110 22083110 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:22083110C>T uc001bfb.2 - 3 579 c.341G>A c.(340-342)CGG>CAG p.R114Q USP48_uc010odq.1_Missense_Mutation_p.R114Q|USP48_uc009vqc.2_Missense_Mutation_p.R114Q|USP48_uc001bfc.2_Missense_Mutation_p.R114Q|USP48_uc001bfe.1_Missense_Mutation_p.R114Q|USP48_uc001bff.2_Missense_Mutation_p.R114Q NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 114 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) GAGTGCCTGCCGAAGCTCCAA 0.468 NA 31 157 0 0 0.007291 0 0 CNR2 1269 broad.mit.edu 37 1 24201556 24201556 + Silent SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:24201556T>A uc001bif.2 - 2 679 c.552A>T c.(550-552)CCA>CCT p.P184P NM_001841 NP_001832 P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 184 Extracellular (Potential). behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity skin(2)|central_nervous_system(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) TGGGGATCAGTGGGAAAAGCT 0.562 NA 12 69 0 0 0.00245 0 0 MATN1 4146 broad.mit.edu 37 1 31189047 31189047 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:31189047C>T uc001brz.2 - 5 950 c.916G>A c.(916-918)GAC>AAC p.D306N uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.D224N NM_002379 NP_002370 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein precursor 306 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1) 1 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) TCTGACACGTCCAGCGTATCC 0.562 NA 30 74 0 0 0.007835 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579110 35579110 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:35579110A>T uc001bym.2 + 11 1827 c.1679A>T c.(1678-1680)AAT>ATT p.N560I ZMYM1_uc001byn.2_Missense_Mutation_p.N560I|ZMYM1_uc010ohu.1_Missense_Mutation_p.N541I|ZMYM1_uc001byo.2_Missense_Mutation_p.N200I|ZMYM1_uc009vut.2_Missense_Mutation_p.N485I NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 560 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATAATTGAAAATATTTTATTT 0.318 NA 27 34 0 0 0.008361 0 0 C1orf216 127703 broad.mit.edu 37 1 36181806 36181806 + Silent SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:36181806G>C uc001bzh.1 - 2 605 c.117C>G c.(115-117)GCC>GCG p.A39A NM_152374 NP_689587 Q8TAB5 CA216_HUMAN hypothetical protein LOC127703 39 skin(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TAGCATCCTTGGCACTTGCCA 0.577 NA OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 113 0 0 0.004656 0 0 ATP6V0B 533 broad.mit.edu 37 1 44441472 44441472 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:44441472G>T uc001cld.2 + 2 179 c.68G>T c.(67-69)GGA>GTA p.G23V ATP6V0B_uc001clc.2_Missense_Mutation_p.G23V|ATP6V0B_uc001cle.2_Intron|ATP6V0B_uc001clf.2_5'UTR NM_004047 NP_004038 Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 23 Helical; (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) ACTGCTGCAGGAGTCTGCTAC 0.552 NA 150 349 1.46247e-67 2.53917e-67 0.01441 1 0 TCTEX1D1 200132 broad.mit.edu 37 1 67241985 67241985 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:67241985G>T uc001dcv.2 + 4 366 c.235G>T c.(235-237)GTC>TTC p.V79F TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_Intron NM_152665 NP_689878 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 79 0 TTTTCCTGTGGTCACCGTCAA 0.358 NA 15 32 3.99206e-14 5.38378e-14 0.007413 1 0 LPHN2 23266 broad.mit.edu 37 1 82409048 82409048 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:82409048G>C uc001dit.3 + 6 974 c.793G>C c.(793-795)GAC>CAC p.D265H LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.D265H|LPHN2_uc001div.2_Missense_Mutation_p.D265H|LPHN2_uc009wcd.2_Missense_Mutation_p.D265H NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 265 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GACTGATATCGACCTAGCAGT 0.408 NA 21 39 0 0 0.00333 0 0 RPAP2 79871 broad.mit.edu 37 1 92789591 92789591 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:92789591G>C uc001dot.2 + 8 1223 c.1114G>C c.(1114-1116)GAG>CAG p.E372Q RPAP2_uc009wdh.2_RNA NM_024813 NP_079089 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 372 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) AGTTTTGAAGGAGACTTTGAT 0.403 NA 17 89 0 0 0.006122 0 0 VCAM1 7412 broad.mit.edu 37 1 101185437 101185437 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:101185437G>T uc001dti.2 + 1 141 c.21G>T c.(19-21)GTG>GTT p.V7V VCAM1_uc001dtj.2_Silent_p.V7V|VCAM1_uc010ouj.1_Silent_p.V7V NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 7 heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGATGGTCGTGATCCTTGGAG 0.413 NA 15 43 1.55795e-14 2.11401e-14 0.012319 1 0 SEC22B 9554 broad.mit.edu 37 1 145115850 145115850 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:145115850C>A uc001eml.1 + 7 749 c.609C>A c.(607-609)TTC>TTA p.F203L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 203 Helical; Anchor for type IV membrane protein; (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 CTGTATTTTTCATCATGTTAA 0.413 NA 17 117 1.96895e-08 2.34045e-08 0.00278 1 0 FLG 2312 broad.mit.edu 37 1 152277110 152277110 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:152277110C>A uc001ezu.1 - 3 10288 c.10252G>T c.(10252-10254)GCA>TCA p.A3418S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3418 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCTCGTGCCTGCTCGTGG 0.597 NA Ichthyosis 87 582 3.34506e-74 5.85385e-74 0.01441 1 0 KPRP 448834 broad.mit.edu 37 1 152733141 152733141 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:152733141G>A uc001fal.1 + 2 1135 c.1077G>A c.(1075-1077)CCG>CCA p.P359P NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 359 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGTGGCCCGCAGCCCTCCT 0.647 NA 4 147 0 0 0.009096 0 0 ATP8B2 57198 broad.mit.edu 37 1 154317977 154317977 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:154317977A>T uc001fex.2 + 23 2749 c.2749A>T c.(2749-2751)ATG>TTG p.M917L NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 903 Helical; (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGCTTTCACCATGGTCCACTT 0.433 NA OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 803 0 0 0.01441 0 0 DCST2 127579 broad.mit.edu 37 1 155002563 155002563 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:155002563G>A uc001fgm.2 - 7 1254 c.1174C>T c.(1174-1176)CCG>TCG p.P392S DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 392 Cytoplasmic (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCCTCACCCGGTGGGATGTAG 0.697 NA 21 197 0 0 0.014323 0 0 INSRR 3645 broad.mit.edu 37 1 156810734 156810734 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:156810734G>T uc010pht.1 - 22 4079 c.3825C>A c.(3823-3825)ACC>ACA p.T1275T NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 1275 Cytoplasmic (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTCTGCATCGGTGGTAGGCA 0.647 NA 4 73 8.12818e-05 8.76413e-05 0.001984 1 0 FCRL2 79368 broad.mit.edu 37 1 157738300 157738300 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:157738300G>T uc001fre.2 - 5 846 c.787C>A c.(787-789)CCA>ACA p.P263T FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.P263T|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 263 Ig-like C2-type 3.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTCACAGCTGGGATCTCCAGC 0.512 NA 143 214 3.42498e-63 5.9232e-63 0.01441 1 0 SPTA1 6708 broad.mit.edu 37 1 158615031 158615031 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:158615031C>A uc001fst.1 - 29 4340 c.4141G>T c.(4141-4143)GAG>TAG p.E1381* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1381 Spectrin 13. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CAAGCCTTCTCCAAATCATCT 0.448 NA 144 140 1.97865e-72 3.44895e-72 0.01441 1 0 OR10J3 441911 broad.mit.edu 37 1 159284169 159284169 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:159284169G>A uc010piu.1 - 1 281 c.281C>T c.(280-282)GCC>GTC p.A94V NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) GCTTTGGGTGGCAATGGGCTG 0.498 NA 8 142 0 0 0.00308 0 0 OR10J1 26476 broad.mit.edu 37 1 159410018 159410018 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:159410018T>A uc010piv.1 + 1 470 c.470T>A c.(469-471)CTG>CAG p.L157Q uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 157 Helical; Name=4; (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) CAACTTGTCCTGGGGGCCTGC 0.498 NA 150 116 0 0 0.01441 0 0 TAGLN2 8407 broad.mit.edu 37 1 159888698 159888698 + Silent SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:159888698A>G uc001fum.1 - 4 542 c.492T>C c.(490-492)GAT>GAC p.D164D CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Silent_p.D164D|TAGLN2_uc001fuo.1_3'UTR NM_003564 NP_003555 P37802 TAGL2_HUMAN transgelin 2 164 muscle organ development nuclear membrane|plasma membrane protein binding 0 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAGCTGGTTATCCGAGAAGT 0.552 NA 34 256 0 0 0.004878 0 0 NOS1AP 9722 broad.mit.edu 37 1 162313767 162313767 + Splice_Site SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:162313767G>C uc001gbv.2 + 6 982 c.595_splice c.e6+1 p.G199_splice NOS1AP_uc010pkr.1_Splice_Site_p.G194_splice|NOS1AP_uc010pks.1_Splice_Site|NOS1AP_uc001gbw.2_Splice_Site_p.G194_splice NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) GGAGACCCAGGTAGGCACTGC 0.582 NA 48 31 0 0 0.01441 0 0 METTL13 51603 broad.mit.edu 37 1 171755174 171755174 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:171755174A>G uc001ghz.2 + 3 1416 c.1069A>G c.(1069-1071)AGA>GGA p.R357G METTL13_uc001gia.2_Missense_Mutation_p.R271G|METTL13_uc001gib.2_Missense_Mutation_p.R201G|METTL13_uc010pml.1_Missense_Mutation_p.R356G NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 357 methyltransferase activity|protein binding kidney(1) 1 GCTGTCGGCTAGAGTCATGGA 0.572 NA 5 75 0 0 0.00308 0 0 TNR 7143 broad.mit.edu 37 1 175324739 175324739 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:175324739C>A uc001gkp.1 - 15 3230 c.3149G>T c.(3148-3150)AGT>ATT p.S1050I TNR_uc009wwu.1_Missense_Mutation_p.S1050I NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1050 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GGTGACTTCACTGGCTGTCAG 0.552 NA 89 51 3.10586e-51 5.32951e-51 0.01441 1 0 TNR 7143 broad.mit.edu 37 1 175372653 175372653 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:175372653G>A uc001gkp.1 - 2 680 c.599C>T c.(598-600)TCG>TTG p.S200L TNR_uc009wwu.1_Missense_Mutation_p.S200L|TNR_uc010pmz.1_Missense_Mutation_p.S200L NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 200 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GTAGGGCTCCGAGCAATTCTT 0.582 NA 38 310 0 0 0.009718 0 0 FAM5B 57795 broad.mit.edu 37 1 177226496 177226496 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:177226496C>A uc001glf.2 + 4 957 c.645C>A c.(643-645)ATC>ATA p.I215I FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_Silent_p.I110I NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 215 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TGCACCATATCCAGATAGCCA 0.612 NA 33 21 1.56738e-10 1.96927e-10 0.004289 1 0 HMCN1 83872 broad.mit.edu 37 1 186086738 186086738 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:186086738A>G uc001grq.1 + 77 12060 c.11831A>G c.(11830-11832)TAT>TGT p.Y3944C NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3944 Ig-like C2-type 38. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GGAGATGGCTATAGAATTCTG 0.433 NA 69 42 0 0 0.01441 0 0 LRRN2 10446 broad.mit.edu 37 1 204588748 204588748 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:204588748C>G uc001hbe.1 - 3 761 c.373G>C c.(373-375)GAG>CAG p.E125Q MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.E125Q|LRRN2_uc009xbf.1_Missense_Mutation_p.E125Q|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 125 LRR 3.|Extracellular (Potential). cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TGGTTCTCCTCTAGGTGCAGG 0.602 NA 4 420 0 0 0.001168 0 0 CENPF 1063 broad.mit.edu 37 1 214791961 214791961 + Silent SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:214791961A>T uc001hkm.2 + 4 579 c.405A>T c.(403-405)GCA>GCT p.A135A NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 135 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential. 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 ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CGCAGTCTGCAGATGTCTCTC 0.398 Colon(80;575 1284 11000 14801 43496) NA 19 118 0 0 0.007413 0 0 USH2A 7399 broad.mit.edu 37 1 215848813 215848813 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:215848813G>T uc001hku.1 - 63 12827 c.12440C>A c.(12439-12441)CCT>CAT p.P4147H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4147 Fibronectin type-III 26.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTCCACAGAGGCTGAGGCGC 0.572 NA HNSCC(13;0.011) 12 61 5.50884e-06 6.13484e-06 0.013537 1 0 EPRS 2058 broad.mit.edu 37 1 220178627 220178627 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:220178627C>T uc001hly.1 - 16 2296 c.2026G>A c.(2026-2028)GGA>AGA p.G676R EPRS_uc010puf.1_Missense_Mutation_p.G427R|EPRS_uc001hlz.1_Missense_Mutation_p.G683R|EPRS_uc009xdt.1_Missense_Mutation_p.G264R NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 676 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ATGAAGAATCCTCTTCTCTGG 0.333 NA 6 70 0 0 0.001984 0 0 TAF1A 9015 broad.mit.edu 37 1 222761891 222761891 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:222761891A>T uc009xdz.1 - 2 204 c.15T>A c.(13-15)AGT>AGA p.S5R TAF1A_uc001hni.1_5'UTR|TAF1A_uc001hnj.2_Missense_Mutation_p.S5R|TAF1A_uc001hnk.2_5'UTR|TAF1A_uc010pur.1_Missense_Mutation_p.S5R NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 5 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding 0 GBM - Glioblastoma multiforme(131;0.0186) TTAATTCTTCACTGAAATCAC 0.378 NA 19 218 0 0 0.012319 0 0 C1orf55 163859 broad.mit.edu 37 1 226183030 226183030 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:226183030T>C uc001hpu.3 - 2 228 c.175A>G c.(175-177)AGT>GGT p.S59G C1orf55_uc001hpv.2_Missense_Mutation_p.S59G NM_152608 NP_689821 Q6IQ49 CA055_HUMAN hypothetical protein LOC163859 59 lung(1) 1 Breast(184;0.197) ACTGTGTCACTGGTGTTAATG 0.383 NA 21 220 0 0 0.008871 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232619633 232619633 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:232619633G>A uc001hvg.2 - 4 2044 c.1886C>T c.(1885-1887)ACG>ATG p.T629M NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 629 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TGGTCCCGCCGTCTCATTGTT 0.448 NA 10 103 0 0 0.013537 0 0 RYR2 6262 broad.mit.edu 37 1 237713886 237713886 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:237713886C>T uc001hyl.1 + 27 3229 c.3109C>T c.(3109-3111)CTT>TTT p.L1037F NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1037 Cytoplasmic (By similarity).|2.|B30.2/SPRY 2.|4 X approximate repeats. L -> P (in Ref. 1; CAA66975 and 2; CAC18855). 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 ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 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) TCCCTACACTCTTCTGGATGA 0.512 NA 15 12 0 0 0.003163 0 0 OR2T33 391195 broad.mit.edu 37 1 248436566 248436566 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:248436566C>A uc010pzi.1 - 1 551 c.551G>T c.(550-552)CGT>CTT p.R184L NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|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;0.0245) ACAAGCCAAACGCACCAGCAC 0.542 NA 11 168 2.79863e-10 3.50624e-10 0.004656 1 0 WDR37 22884 broad.mit.edu 37 10 1151165 1151165 + Missense_Mutation SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:1151165A>C uc001igf.1 + 11 1234 c.1061A>C c.(1060-1062)GAC>GCC p.D354A WDR37_uc009xhm.1_Missense_Mutation_p.D355A|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA NM_014023 NP_054742 Q9Y2I8 WDR37_HUMAN WD repeat domain 37 354 WD 4. 0 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) GATTTCAGGGACCCCTCCATC 0.567 NA 4 24 0 0 0.008291 0 0 FBXO18 84893 broad.mit.edu 37 10 5955787 5955787 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:5955787C>T uc001iis.2 + 7 1384 c.1289C>T c.(1288-1290)CCA>CTA p.P430L FBXO18_uc001iir.2_Missense_Mutation_p.P356L|FBXO18_uc009xig.2_Missense_Mutation_p.P356L|FBXO18_uc001iit.2_Missense_Mutation_p.P481L NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 430 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 AAAGAGGAGCCATCTGTCTGG 0.413 NA 33 54 0 0 0.012213 0 0 ITIH2 3698 broad.mit.edu 37 10 7759743 7759743 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:7759743C>T uc001ijs.2 + 6 784 c.622C>T c.(622-624)CAC>TAC p.H208Y NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 208 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 GCTGGCCAAACACTTAGAGGT 0.502 NA 69 191 0 0 0.01441 0 0 ARMC3 219681 broad.mit.edu 37 10 23270392 23270392 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:23270392C>A uc001irm.3 + 9 1123 c.1040C>A c.(1039-1041)TCA>TAA p.S347* ARMC3_uc010qcv.1_Nonsense_Mutation_p.S347*|ARMC3_uc010qcw.1_Nonsense_Mutation_p.S84* NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 347 ARM 9. binding 0 TGTGAGAATTCAGGCAGCAAA 0.373 NA 19 42 7.45023e-12 9.69189e-12 0.010504 1 0 PSAP 5660 broad.mit.edu 37 10 73579275 73579275 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:73579275G>T uc001jsm.2 - 11 1401 c.1297C>A c.(1297-1299)CTG>ATG p.L433M PSAP_uc001jsl.2_Missense_Mutation_p.L157M NM_002778 NP_002769 P07602 SAP_HUMAN prosaposin isoform a preproprotein 433 Saposin B-type 4. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding ovary(1) 1 AGAGCAGCCAGGATCTCCTGC 0.577 NA 30 84 2.48696e-23 3.75599e-23 0.003271 1 0 USP54 159195 broad.mit.edu 37 10 75258547 75258547 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:75258547C>T uc001juo.2 - 22 4912 c.4895G>A c.(4894-4896)CGA>CAA p.R1632Q PPP3CB_uc001juf.2_5'Flank|PPP3CB_uc001jue.2_5'Flank|PPP3CB_uc001jug.2_5'Flank|PPP3CB_uc001jui.2_5'Flank|PPP3CB_uc001juh.2_5'Flank|USP54_uc010qkk.1_Missense_Mutation_p.R767Q|USP54_uc001juk.2_Missense_Mutation_p.R720Q|USP54_uc001jul.2_Missense_Mutation_p.R673Q|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1632 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) ATCTACTCTTCGAGGACCAGG 0.517 Colon(195;880 2046 8854 25025 38456) NA 15 117 0 0 0.003163 0 0 PLCE1 51196 broad.mit.edu 37 10 95791385 95791385 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:95791385C>T uc001kjk.2 + 2 1216 c.582C>T c.(580-582)GAC>GAT p.D194D PLCE1_uc010qnx.1_Silent_p.D194D NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 194 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) ATGAAGTTGACAGAAGAATGT 0.418 NA 17 68 0 0 0.006122 0 0 TLL2 7093 broad.mit.edu 37 10 98273371 98273371 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:98273371C>A uc001kml.1 - 1 298 c.72G>T c.(70-72)GGG>GGT p.G24G TLL2_uc009xvf.1_Silent_p.G24G NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 24 cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCCCGAGTCCCCCGGCGCCGC 0.726 NA 16 22 3.45872e-05 3.77548e-05 0.004007 1 0 PIK3AP1 118788 broad.mit.edu 37 10 98469537 98469537 + Missense_Mutation SNP C C T rs146527410 byFrequency TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:98469537C>T uc001kmq.2 - 2 345 c.217G>A c.(217-219)GCG>ACG p.A73T NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 73 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ACCAGCTCCGCGGACAGCAGC 0.652 NA 53 89 0 0 0.01441 0 0 ABCC2 1244 broad.mit.edu 37 10 101606844 101606844 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:101606844G>T uc001kqf.2 + 30 4412 c.4273G>T c.(4273-4275)GGG>TGG p.G1425W NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 1425 Cytoplasmic (By similarity).|ABC transporter 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCTGCAACTTGGGTTATCCCA 0.537 NA 71 143 1.68136e-41 2.80864e-41 0.01441 1 0 NEURL 9148 broad.mit.edu 37 10 105330758 105330758 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:105330758C>T uc001kxh.2 + 2 625 c.215C>T c.(214-216)TCC>TTC p.S72F NM_004210 NP_004201 O76050 NEU1A_HUMAN neuralized-like 72 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding 0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) ACCAAGGGCTCCCAGATCCTC 0.637 NA 65 161 0 0 0.01441 0 0 KNDC1 85442 broad.mit.edu 37 10 134997434 134997434 + Missense_Mutation SNP G G A rs144320928 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:134997434G>A uc001llz.1 + 5 567 c.566G>A c.(565-567)CGG>CAG p.R189Q KNDC1_uc001lma.1_Missense_Mutation_p.R124Q NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 189 KIND 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CGCGTGTGCCGGAGCCTCTCT 0.607 NA 24 170 0 0 0.003954 0 0 LOC653544 653544 broad.mit.edu 37 10 135491123 135491123 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:135491123G>A uc010qvi.1 + 1 845 c.734G>A c.(733-735)GGC>GAC p.G245D NM_001127389 NP_001120861 F5GZ66 F5GZ66_HUMAN double homeobox, 4-like 245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCCACACCGGCGCGTGGGGA 0.786 NA 4 18 0 0 0.006214 0 0 OR51D1 390038 broad.mit.edu 37 11 4661752 4661752 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:4661752G>T uc010qyk.1 + 1 732 c.732G>T c.(730-732)CGG>CGT p.R244R NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 244 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTCCTCTCGGAGGGCAGCAC 0.527 NA 65 151 1.7104e-27 2.70353e-27 0.01441 1 0 OR2AG1 144125 broad.mit.edu 37 11 6806427 6806428 + Silent DNP CC CC AA TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:6806427_6806428CC>AA uc001mer.1 + 1 159_160 c.159_160CC>AA c.(157-162)GCCCGG>GCAAGG p.53_54AR>AR NM_001004489 NP_001004489 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, 53_54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCATGGAAGCCCGGCTCCACAT 0.545 NA 79 160 0 0 0.004672 0 0 TEAD1 7003 broad.mit.edu 37 11 12901386 12901386 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:12901386G>A uc001mkj.3 + 6 1082 c.417G>A c.(415-417)CCG>CCA p.P139P TEAD1_uc001mkk.3_Silent_p.P58P|TEAD1_uc009ygl.2_Silent_p.P33P NM_021961 NP_068780 P28347 TEAD1_HUMAN TEA domain family member 1 154 Pro-rich. hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) CAGGGGCGCCGGGGGTAAGTC 0.597 NA 17 142 0 0 0.010504 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838843 16838843 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:16838843C>A uc001mmo.2 - 11 1385 c.1370G>T c.(1369-1371)CGC>CTC p.R457L PLEKHA7_uc010rcu.1_Missense_Mutation_p.R457L|PLEKHA7_uc010rcv.1_Missense_Mutation_p.R31L|PLEKHA7_uc001mmn.2_Missense_Mutation_p.R165L NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 457 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 AGGACCCTGGCGAGGAAGCGT 0.587 NA 38 140 8.16277e-20 1.19594e-19 0.006999 1 0 NELL1 4745 broad.mit.edu 37 11 20982079 20982079 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:20982079G>A uc001mqe.2 + 12 1426 c.1273G>A c.(1273-1275)GTC>ATC p.V425I NELL1_uc001mqf.2_Missense_Mutation_p.V425I|NELL1_uc009yid.2_Missense_Mutation_p.V453I|NELL1_uc010rdo.1_Missense_Mutation_p.V368I|NELL1_uc010rdp.1_Missense_Mutation_p.V185I NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 425 EGF-like 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TTACATCTCTGTCCAGGGAGA 0.413 NA 34 93 0 0 0.004878 0 0 FIBIN 387758 broad.mit.edu 37 11 27016285 27016285 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:27016285A>T uc001mrd.2 + 1 658 c.212A>T c.(211-213)CAG>CTG p.Q71L NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog precursor 71 extracellular region|Golgi apparatus 0 GAGGGGAGCCAGGTTGGCAGC 0.662 NA 18 32 0 0 0.010504 0 0 OR5A2 219981 broad.mit.edu 37 11 59190046 59190046 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:59190046G>C uc010rkt.1 - 1 381 c.381C>G c.(379-381)ATC>ATG p.I127M NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGGGTTGCAGATTGCAGCAT 0.478 NA 4 52 0 0 0.009096 0 0 MS4A4A 51338 broad.mit.edu 37 11 60064740 60064740 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:60064740C>T uc001noz.2 + 3 282 c.272C>T c.(271-273)ACT>ATT p.T91I MS4A4A_uc001npa.2_Missense_Mutation_p.T72I|MS4A4A_uc001npb.2_Missense_Mutation_p.T72I|MS4A4A_uc001npc.2_Missense_Mutation_p.T72I NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 91 Extracellular (Potential). integral to membrane receptor activity 0 GCATCTAATACTTATGGAAGT 0.373 NA 13 39 0 0 0.001855 0 0 TUT1 64852 broad.mit.edu 37 11 62346199 62346199 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:62346199C>T uc001nto.2 - 5 1146 c.1108G>A c.(1108-1110)GAG>AAG p.E370K TUT1_uc001ntp.1_5'Flank NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 332 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 GCTTTCTCCTCCTTTGGGGTC 0.617 NA 26 156 0 0 0.010818 0 0 SLC22A11 55867 broad.mit.edu 37 11 64331815 64331815 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:64331815A>T uc001oai.2 + 5 1231 c.857A>T c.(856-858)AAG>ATG p.K286M SLC22A11_uc001oah.1_Intron|SLC22A11_uc001oaj.2_Missense_Mutation_p.K286M|SLC22A11_uc009ypq.2_Missense_Mutation_p.K286M|SLC22A11_uc001oak.1_Missense_Mutation_p.K115M NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN solute carrier family 22 member 11 286 Cytoplasmic (Potential). urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Probenecid(DB01032) CTGATTATTAAGGGCAAACCA 0.587 NA 26 79 0 0 0.008361 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65349621 65349621 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:65349621G>A uc001oeo.3 + 9 1743 c.1478G>A c.(1477-1479)GGT>GAT p.G493D EHBP1L1_uc001oep.1_Intron NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN tangerin 493 central_nervous_system(1) 1 GGGCAACTTGGTGACCTCGAG 0.682 NA 7 25 0 0 0.010729 0 0 MYEOV 26579 broad.mit.edu 37 11 69063518 69063518 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:69063518G>T uc001oov.2 + 3 1051 c.601G>T c.(601-603)GTG>TTG p.V201L MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.V201L|MYEOV_uc001oow.2_Missense_Mutation_p.V143L NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 201 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GCGAATGGATGTGGCTCTGCG 0.607 NA 74 156 1.37693e-34 2.25735e-34 0.01441 1 0 PRKRIR 5612 broad.mit.edu 37 11 76063505 76063505 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:76063505C>A uc001oxh.1 - 5 689 c.689G>T c.(688-690)TGT>TTT p.C230F PRKRIR_uc010rrz.1_Missense_Mutation_p.C55F NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 230 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 TGTTTTTGAACAAAACAACGT 0.438 NA 19 49 1.33986e-20 1.98282e-20 0.004656 1 0 FAT3 120114 broad.mit.edu 37 11 92087733 92087733 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:92087733A>G uc001pdj.3 + 1 2472 c.2455A>G c.(2455-2457)ATC>GTC p.I819V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 819 Extracellular (Potential).|Cadherin 7. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACTGCTGACCATCAATGTGGA 0.403 NA TCGA Ovarian(4;0.039) 23 46 0 0 0.003954 0 0 FAT3 120114 broad.mit.edu 37 11 92498063 92498064 + Missense_Mutation DNP GG GG TT TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:92498063_92498064GG>TT uc001pdj.3 + 5 4020_4021 c.4003_4004GG>TT c.(4003-4005)GGG>TTG p.G1335L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1335 Cadherin 12.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGTGGACAATGGGCGCCCACAG 0.485 NA TCGA Ovarian(4;0.039) 17 39 0 0 0.004672 0 0 DSCAML1 57453 broad.mit.edu 37 11 117395563 117395563 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:117395563G>A uc001prh.1 - 5 1076 c.1074C>T c.(1072-1074)AAC>AAT p.N358N DSCAML1_uc001pri.1_Silent_p.N162N NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 298 Ig-like C2-type 3.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AACCGAAGGTGTTGGTGACCT 0.632 NA 4 21 0 0 0.001168 0 0 TECTA 7007 broad.mit.edu 37 11 120996458 120996458 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:120996458G>A uc010rzo.1 + 7 1651 c.1651G>A c.(1651-1653)GTG>ATG p.V551M NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 551 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCACAGCTGCGTGTATGACCT 0.567 NA 80 197 0 0 0.01441 0 0 SORL1 6653 broad.mit.edu 37 11 121403215 121403215 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:121403215G>A uc001pxx.2 + 12 1719 c.1639G>A c.(1639-1641)GGA>AGA p.G547R NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 547 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) AGACCACGGCGGAATCATCAC 0.483 NA 4 69 0 0 0.009096 0 0 RPL13AP20 387841 broad.mit.edu 37 12 13028826 13028826 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:13028826G>A uc010sho.1 + 1 416 c.394G>A c.(394-396)GCA>ACA p.A132T NR_003932 SubName: Full=Ribosomal protein L13a variant; Flags: Fragment; 0 TCTGAAGCCTGCAAGAAAGTT 0.567 NA 3 19 0 0 0.009096 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 6 12 0.000157383 0.000168053 0.00308 1 0 DDX11 1663 broad.mit.edu 37 12 31249591 31249592 + Missense_Mutation DNP GT GT TA TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:31249591_31249592GT>TA uc001rjt.1 + 16 1793_1794 c.1542_1543GT>TA c.(1540-1545)CGGTAC>CGTAAC p.Y515N DDX11_uc001rjr.1_Missense_Mutation_p.Y515N|DDX11_uc001rjs.1_Missense_Mutation_p.Y515N|DDX11_uc001rju.1_Missense_Mutation_p.Y193N|DDX11_uc001rjv.1_Missense_Mutation_p.Y515N|DDX11_uc001rjw.1_Missense_Mutation_p.Y489N|DDX11_uc009zjn.1_RNA NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 515 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TCACTGAACGGTACGGAGCAGT 0.594 NA Multiple Myeloma(12;0.14) 21 75 0 0 0.004672 0 0 ARID2 196528 broad.mit.edu 37 12 46245320 46245320 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:46245320G>T uc001ros.1 + 15 3414 c.3414G>T c.(3412-3414)GGG>GGT p.G1138G ARID2_uc001ror.2_Silent_p.G1138G|ARID2_uc009zkg.1_Silent_p.G594G|ARID2_uc009zkh.1_Silent_p.G765G|ARID2_uc001rou.1_Silent_p.G472G NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1138 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 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) CACCCTCAGGGGGAGTACAAA 0.512 NA 41 108 2.37825e-27 3.73241e-27 0.010771 1 0 MLL2 8085 broad.mit.edu 37 12 49422684 49422684 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:49422684G>A uc001rta.3 - 45 14309 c.14309C>T c.(14308-14310)CCT>CTT p.P4770L NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4770 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGTTGTGACAGGCAGCTTTCC 0.542 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 86 231 0 0 0.01441 0 0 DIP2B 57609 broad.mit.edu 37 12 51065097 51065097 + Missense_Mutation SNP T T G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:51065097T>G uc001rwv.2 + 5 712 c.556T>G c.(556-558)TCA>GCA p.S186A DIP2B_uc001rwu.2_Missense_Mutation_p.S186A|DIP2B_uc009zls.1_Missense_Mutation_p.S68A NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 186 Ser-rich. nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 GTCCACTTCTTCATCCGCATC 0.512 NA 37 82 0 0 0.005524 0 0 CCT2 10576 broad.mit.edu 37 12 69983267 69983267 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:69983267C>T uc001svb.1 + 7 543 c.449C>T c.(448-450)TCC>TTC p.S150F CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.S150F|CCT2_uc010stl.1_Missense_Mutation_p.S103F NM_006431 NP_006422 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 150 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TTATTTAGTTCCGATGAAGTT 0.299 NA 5 39 0 0 0.000602 0 0 LGR5 8549 broad.mit.edu 37 12 71978333 71978333 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:71978333G>T uc001swl.2 + 18 2591 c.2543G>T c.(2542-2544)AGC>ATC p.S848I LGR5_uc001swm.2_Missense_Mutation_p.S824I|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 848 Cytoplasmic (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 AAACACCCAAGCTTGATGTCA 0.448 NA 36 112 1.06647e-15 1.46515e-15 0.003755 1 0 KCNC2 3747 broad.mit.edu 37 12 75442064 75442064 + Missense_Mutation SNP G G A rs142936560 byFrequency TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:75442064G>A uc001sxg.1 - 4 2193 c.1649C>T c.(1648-1650)CCG>CTG p.P550L KCNC2_uc009zry.2_Missense_Mutation_p.P550L|KCNC2_uc001sxe.2_Missense_Mutation_p.P550L|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Intron NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 550 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity p.P550L(1) breast(2)|pancreas(2)|skin(1)|lung(1) 6 TGATAGTGGCGGCTCACTTCC 0.483 NA 9 45 0 0 0.006214 0 0 MYF6 4618 broad.mit.edu 37 12 81101854 81101854 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:81101854G>A uc001szf.1 + 1 409 c.356G>A c.(355-357)CGA>CAA p.R119Q NM_002469 NP_002460 P23409 MYF6_HUMAN myogenic factor 6 119 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 CTGAAGCGGCGAACTGTGGCC 0.597 NA 36 101 0 0 0.010771 0 0 HAL 3034 broad.mit.edu 37 12 96374622 96374622 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:96374622C>A uc001tem.1 - 16 1604 c.1307G>T c.(1306-1308)GGA>GTA p.G436V HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.G228V|HAL_uc010sux.1_Missense_Mutation_p.G436V NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 436 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) AACTGTCTCTCCCCTATTGGC 0.423 NSCLC(169;943 2815 23563 30031) NA 37 114 3.54909e-21 5.28766e-21 0.011902 1 0 GAS2L3 283431 broad.mit.edu 37 12 101005791 101005791 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:101005791G>C uc001thu.2 + 6 543 c.317G>C c.(316-318)AGA>ACA p.R106T GAS2L3_uc009zty.2_Missense_Mutation_p.R106T|GAS2L3_uc001thv.2_Missense_Mutation_p.R2T NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 106 CH. cell cycle arrest skin(1) 1 TTTCCAATGAGAAAAGTGCCC 0.348 NA 21 76 0 0 0.010504 0 0 MYO1H 283446 broad.mit.edu 37 12 109841826 109841826 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:109841826G>T uc010sxn.1 + 6 742 c.742G>T c.(742-744)GAC>TAC p.D248Y NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 TGACAAGAATGACTGGAAAAC 0.418 NA 6 27 3.09899e-07 3.54975e-07 0.004482 1 0 MYL2 4633 broad.mit.edu 37 12 111356969 111356969 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:111356969C>A uc001try.3 - 2 103 c.32G>T c.(31-33)GGG>GTG p.G11V MYL2_uc001trx.3_5'UTR NM_000432 NP_000423 P10916 MLRV_HUMAN slow cardiac myosin regulatory light chain 2 11 cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle ovary(1) 1 GTTGGCGCCCCCGGCTCTCTT 0.502 GBM(14;268 426 18829 21617 25540) NA 10 41 6.40141e-05 6.93617e-05 0.010729 1 0 MED13L 23389 broad.mit.edu 37 12 116401214 116401214 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:116401214T>A uc001tvw.2 - 30 6553 c.6498A>T c.(6496-6498)TTA>TTT p.L2166F NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 2166 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GTATCTACCTTAAAACATCCG 0.428 NA 22 47 0 0 0.00278 0 0 ATP8A2 51761 broad.mit.edu 37 13 26148945 26148945 + Splice_Site SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:26148945G>C uc001uqk.2 + 19 1805 c.1663_splice c.e19-1 p.M555_splice ATP8A2_uc010tdi.1_Splice_Site_p.M515_splice|ATP8A2_uc010tdj.1_Splice_Site|ATP8A2_uc010aaj.1_Splice_Site_p.M65_splice NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TCTTCCTTTAGATGGGACAGG 0.333 NA 22 41 0 0 0.005443 0 0 POSTN 10631 broad.mit.edu 37 13 38172804 38172804 + Silent SNP G G A rs138966400 byFrequency TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:38172804G>A uc001uwo.3 - 1 178 c.60C>T c.(58-60)AAC>AAT p.N20N POSTN_uc001uwp.3_Silent_p.N20N|POSTN_uc001uwr.2_Silent_p.N20N|POSTN_uc001uwq.2_Silent_p.N20N|POSTN_uc010teu.1_Silent_p.N20N|POSTN_uc010tev.1_Silent_p.N20N|POSTN_uc010tew.1_Silent_p.N20N|POSTN_uc010tex.1_Intron NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 20 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) GATTGTTGGCGTTTATAGGGT 0.413 NA 8 53 0 0 0.004482 0 0 TNFSF11 8600 broad.mit.edu 37 13 43181007 43181007 + Nonsense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:43181007C>T uc001uyu.2 + 5 1056 c.907C>T c.(907-909)CAG>TAG p.Q303* TNFSF11_uc001uyt.2_Nonsense_Mutation_p.Q230* NM_003701 NP_003692 O14788 TNF11_HUMAN tumor necrosis factor ligand superfamily, member 303 Extracellular (Potential). immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding 0 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) GGATCCGGATCAGGATGCAAC 0.398 NA 49 102 0 0 0.01441 0 0 DIAPH3 81624 broad.mit.edu 37 13 60582753 60582753 + Silent SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:60582753T>A uc001vht.2 - 9 1158 c.939A>T c.(937-939)TCA>TCT p.S313S DIAPH3_uc001vhu.2_Silent_p.S50S|DIAPH3_uc001vhw.1_Silent_p.S302S|DIAPH3_uc010aed.1_Silent_p.S267S|DIAPH3_uc010aee.1_Silent_p.S243S NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 313 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CTTCACCAGCTGAAGTTAAAG 0.328 NA 17 119 0 0 0.006122 0 0 KLHL1 57626 broad.mit.edu 37 13 70413137 70413137 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:70413137T>C uc001vip.2 - 6 2179 c.1385A>G c.(1384-1386)TAT>TGT p.Y462C KLHL1_uc010thm.1_Missense_Mutation_p.Y401C NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 462 Kelch 1. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TCCTACAGCATACAAAGTTCC 0.348 NA 4 7 0 0 0.009096 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454289 84454289 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:84454289G>A uc001vlk.2 - 1 2240 c.1354C>T c.(1354-1356)CTG>TTG p.L452L NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 452 Extracellular (Potential).|LRR 10. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCCACGTTCAGGTACTCTAGG 0.512 NA 54 139 0 0 0.01441 0 0 SLITRK5 26050 broad.mit.edu 37 13 88330366 88330366 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:88330366A>G uc001vln.2 + 2 2942 c.2723A>G c.(2722-2724)GAC>GGC p.D908G SLITRK5_uc010tic.1_Missense_Mutation_p.D667G NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 908 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GGGGCAGGGGACAGCAGGCTA 0.552 NA 40 251 0 0 0.007835 0 0 NALCN 259232 broad.mit.edu 37 13 101755543 101755543 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:101755543C>A uc001vox.1 - 26 3226 c.3037G>T c.(3037-3039)GGC>TGC p.G1013C NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1013 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCTTGAAGCCGCTGAAAAGT 0.453 NA 38 108 8.69298e-16 1.198e-15 0.006999 1 0 RNASE11 122651 broad.mit.edu 37 14 21052268 21052268 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:21052268G>T uc010ahv.2 - 2 551 c.366C>A c.(364-366)CGC>CGA p.R122R RNASE11_uc010ahx.2_Silent_p.R122R|RNASE11_uc010ahw.2_Silent_p.R122R|RNASE11_uc001vxs.2_Silent_p.R122R NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 122 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(3) 3 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) CTGTGGAGCTGCGGATGAAGT 0.488 NA 22 59 0.00188189 0.0019807 0.012319 1 0 CMTM5 116173 broad.mit.edu 37 14 23847613 23847613 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:23847613C>A uc010akm.2 + 2 626 c.182C>A c.(181-183)GCC>GAC p.A61D CMTM5_uc001wjs.2_Missense_Mutation_p.A61D|CMTM5_uc001wjt.2_Missense_Mutation_p.A61D|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron NM_138460 NP_612469 Q96DZ9 CKLF5_HUMAN chemokine-like factor superfamily 5 isoform a 61 Helical; (Potential).|MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity 0 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) GCCTACATGGCCGCGGCGCTA 0.572 NA 82 137 1.15773e-35 1.9122e-35 0.01441 1 0 FAM158A 51016 broad.mit.edu 37 14 24610337 24610337 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:24610337C>G uc001wmi.2 - 2 340 c.177G>C c.(175-177)ATG>ATC p.M59I NM_016049 NP_057133 Q9Y3B6 F158A_HUMAN hypothetical protein LOC51016 59 0 CGACCTCCAACATGACGGACA 0.652 NA OREG0022618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 168 0 0 0.01441 0 0 TSSK4 283629 broad.mit.edu 37 14 24676508 24676508 + Nonsense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:24676508T>A uc001wng.2 + 3 765 c.597T>A c.(595-597)TGT>TGA p.C199* TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Nonsense_Mutation_p.C123*|TSSK4_uc001wnf.2_Nonsense_Mutation_p.C129*|TSSK4_uc001wnh.2_Nonsense_Mutation_p.C209* NM_174944 NP_777604 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 199 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity 0 GBM - Glioblastoma multiforme(265;0.018) AGACTTACTGTGGCAGCTTTG 0.527 NA 98 201 0 0 0.01441 0 0 STRN3 29966 broad.mit.edu 37 14 31374709 31374709 + Silent SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:31374709T>A uc001wqu.2 - 15 2160 c.1944A>T c.(1942-1944)GTA>GTT p.V648V STRN3_uc001wqv.2_Silent_p.V564V|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 648 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TGAAAGAGGTTACCATATGAG 0.368 NA 4 21 0 0 0.001168 0 0 MDGA2 161357 broad.mit.edu 37 14 47504503 47504503 + Silent SNP T T A rs146423621 by1000genomes TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:47504503T>A uc001wwj.3 - 8 1519 c.1323A>T c.(1321-1323)CCA>CCT p.P441P MDGA2_uc001wwi.3_Silent_p.P212P|MDGA2_uc010ani.2_Intron NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 441 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TCAGATTGGGTGGAACTTGAA 0.373 NA 24 44 0 0 0.003954 0 0 SAV1 60485 broad.mit.edu 37 14 51131974 51131974 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:51131974T>C uc001wyg.1 - 3 619 c.458A>G c.(457-459)CAT>CGT p.H153R SAV1_uc001wyh.1_Missense_Mutation_p.H153R NM_021818 NP_068590 Q9H4B6 SAV1_HUMAN WW45 protein 153 hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1) 1 all_epithelial(31;0.000611)|Breast(41;0.0333) GTAGTCTTCATGTGCACGATC 0.383 NA 17 40 0 0 0.00333 0 0 SPTB 6710 broad.mit.edu 37 14 65216089 65216089 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:65216089G>T uc001xhr.2 - 35 6976 c.6922C>A c.(6922-6924)CCC>ACC p.P2308T SPTB_uc001xhs.2_Missense_Mutation_p.P2308T|SPTB_uc010aqi.2_Missense_Mutation_p.P1004T NM_001024858 NP_001020029 P11277 SPTB1_HUMAN spectrin beta isoform a Error:Variant_position_missing_in_P11277_after_alignment actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTGGCGTCGGGGCCGGAGAGG 0.652 NA 8 9 1.58986e-06 1.79317e-06 0.008291 1 0 ZFP36L1 677 broad.mit.edu 37 14 69256990 69256990 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:69256990C>A uc001xkh.1 - 2 407 c.277G>T c.(277-279)GAA>TAA p.E93* ZFP36L1_uc001xki.1_Nonsense_Mutation_p.E93* NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 93 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TCGCCCCCTTCCGAGAAGGAG 0.667 NA OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 38 6.50621e-10 8.05966e-10 0.013726 1 0 PCNX 22990 broad.mit.edu 37 14 71514586 71514586 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:71514586C>G uc001xmo.2 + 22 4669 c.4223C>G c.(4222-4224)CCT>CGT p.P1408R PCNX_uc010are.1_Missense_Mutation_p.P1297R|PCNX_uc010arf.1_Missense_Mutation_p.P268R NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1408 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TTTAGCAGCCCTACATATCAG 0.383 NA 15 48 0 0 0.008871 0 0 NEK9 91754 broad.mit.edu 37 14 75573382 75573382 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:75573382C>A uc001xrl.2 - 12 1505 c.1351G>T c.(1351-1353)GGA>TGA p.G451* NEK9_uc001xrk.2_5'UTR NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 451 RCC1 2. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) TAATCTGATCCGAAGGCATAG 0.468 NA 17 40 1.87028e-06 2.10407e-06 0.012319 1 0 CCDC88C 440193 broad.mit.edu 37 14 91779574 91779574 + Silent SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:91779574C>G uc010aty.2 - 15 2685 c.2586G>C c.(2584-2586)CTG>CTC p.L862L NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 862 Potential. 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 ovary(3) 3 all_cancers(154;0.0468) CAACGGCGGACAGTTTGGCAG 0.622 NA 25 138 0 0 0.007291 0 0 KIAA1409 57578 broad.mit.edu 37 14 94088409 94088409 + Silent SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:94088409A>G uc001ybv.1 + 28 4448 c.4365A>G c.(4363-4365)CTA>CTG p.L1455L KIAA1409_uc001ybs.1_Silent_p.L1433L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1610 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TGATAGATCTATCCTCAGATT 0.463 NA 49 96 0 0 0.01441 0 0 MKRN3 7681 broad.mit.edu 37 15 23811308 23811308 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:23811308G>T uc001ywh.3 + 1 855 c.379G>T c.(379-381)GCC>TCC p.A127S MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.A127S NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 127 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TCGGAAGATGGCCACTGAGGG 0.602 NA 48 87 2.43468e-25 3.7281e-25 0.01441 1 0 HERC2 8924 broad.mit.edu 37 15 28414753 28414754 + Missense_Mutation DNP CC CC AA TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:28414753_28414754CC>AA uc001zbj.2 - 66 10211_10212 c.10105_10106GG>TT c.(10105-10107)GGT>TTT p.G3369F NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3369 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATTACTTGCACCACTTATTTTA 0.376 NA 23 94 0 0 0.004672 0 0 TJP1 7082 broad.mit.edu 37 15 30010701 30010701 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:30010701C>A uc001zcr.2 - 21 4120 c.3645G>T c.(3643-3645)GAG>GAT p.E1215D TJP1_uc010azl.2_Missense_Mutation_p.E1203D|TJP1_uc001zcq.2_Missense_Mutation_p.E1139D|TJP1_uc001zcs.2_Missense_Mutation_p.E1135D NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1215 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 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) CATGGAGAGGCTCAAAATGAC 0.522 Melanoma(77;681 1843 6309 6570) NA 13 67 7.93312e-07 9.01677e-07 0.00245 1 0 CEP152 22995 broad.mit.edu 37 15 49030868 49030868 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:49030868A>G uc001zwy.2 - 26 4577 c.4543T>C c.(4543-4545)TGC>CGC p.C1515R CEP152_uc001zwz.2_Missense_Mutation_p.C1571R NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 1515 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CAGCCCAAGCAGTCACTAAGG 0.453 NA 7 30 0 0 0.004482 0 0 COPS2 9318 broad.mit.edu 37 15 49431825 49431825 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:49431825C>G uc001zxf.2 - 4 351 c.272G>C c.(271-273)AGA>ACA p.R91T COPS2_uc001zxh.2_Missense_Mutation_p.R91T|COPS2_uc010ufa.1_Missense_Mutation_p.R27T NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 91 cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) CTGCTTATATCTATTCATCAT 0.289 NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803) NA 10 55 0 0 0.010729 0 0 SLTM 79811 broad.mit.edu 37 15 59191867 59191867 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:59191867C>A uc002afp.2 - 7 947 c.859G>T c.(859-861)GCA>TCA p.A287S SLTM_uc002afo.2_Missense_Mutation_p.A269S|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.A186S NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 287 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 GGGCTCTGTGCAATGGCGTCC 0.453 NA 10 93 0.000978159 0.00103198 0.010729 1 0 LOC645752 645752 broad.mit.edu 37 15 78211461 78211461 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:78211461C>A uc010bky.2 - 11 1070 c.306G>T c.(304-306)GAG>GAT p.E102D NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 TCTCCTCCTGCTCCTGGAGTC 0.567 NA 57 179 6.3237e-29 1.00677e-28 0.01441 1 0 SYNM 23336 broad.mit.edu 37 15 99673193 99673193 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:99673193C>T uc002bup.2 + 6 4748 c.4628C>T c.(4627-4629)TCA>TTA p.S1543L SYNM_uc002buo.2_Missense_Mutation_p.S1231L|SYNM_uc002buq.2_RNA NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1543 Tail.|Interaction with DMD and UTRN. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 TCGGTGATTTCAGATGAAAAG 0.468 Pancreas(125;1071 1762 21750 40003 40381) NA 6 39 0 0 0.001168 0 0 ASB7 140460 broad.mit.edu 37 15 101170138 101170138 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:101170138C>T uc002bwk.2 + 5 1477 c.708C>T c.(706-708)TAC>TAT p.Y236Y ASB7_uc002bwj.2_Silent_p.Y236Y NM_198243 NP_937886 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box-containing protein 7 236 ANK 7. intracellular signal transduction skin(1) 1 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) TATATAATTACGGAGCAGACA 0.453 NA 16 86 0 0 0.014323 0 0 OR4F15 390649 broad.mit.edu 37 15 102358761 102358761 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:102358761G>A uc010uts.1 + 1 372 c.372G>A c.(370-372)ATG>ATA p.M124I NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) ACAGATACATGGCCATATGTA 0.468 NA 16 105 0 0 0.007413 0 0 RHBDL1 9028 broad.mit.edu 37 16 727062 727062 + Missense_Mutation SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:727062A>C uc002cis.1 + 3 740 c.713A>C c.(712-714)CAC>CCC p.H238P RHBDL1_uc002cir.1_Missense_Mutation_p.H173P|RHBDL1_uc010uun.1_Missense_Mutation_p.H173P NM_003961 NP_003952 O75783 RHBL1_HUMAN rhomboid protease 1 238 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.0218) CTTGTGTACCACCCCGGGCAC 0.637 NA 4 111 0 0 0.00245 0 0 CACNA1H 8912 broad.mit.edu 37 16 1250434 1250434 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:1250434G>A uc002cks.2 + 7 1230 c.982G>A c.(982-984)GAG>AAG p.E328K CACNA1H_uc002ckt.2_Missense_Mutation_p.E328K NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 328 Extracellular (Potential).|I. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCCGCAGGCCGAGGGGGTGGG 0.667 NA 11 24 0 0 0.00245 0 0 MYH11 4629 broad.mit.edu 37 16 15820896 15820896 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:15820896C>T uc002ddy.2 - 28 3774 c.3667G>A c.(3667-3669)GAC>AAC p.D1223N MYH11_uc002ddv.2_Missense_Mutation_p.D1230N|MYH11_uc002ddw.2_Missense_Mutation_p.D1223N|MYH11_uc002ddx.2_Missense_Mutation_p.D1230N|MYH11_uc010bvg.2_Missense_Mutation_p.D1055N|MYH11_uc010bvh.2_5'Flank NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1223 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TTATTCTTGTCTAGGTTCGCC 0.597 NA T CBFB AML 70 509 0 0 0.01441 0 0 ZNF646 9726 broad.mit.edu 37 16 31092791 31092791 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:31092791C>T uc002eap.2 + 2 5435 c.5146C>T c.(5146-5148)CTG>TTG p.L1716L NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 1716 C2H2-type 29. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 TCTCCCTAACCTGCTGTCTCT 0.632 NA 47 355 0 0 0.01441 0 0 ZNF646 9726 broad.mit.edu 37 16 31092914 31092914 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:31092914C>T uc002eap.2 + 2 5558 c.5269C>T c.(5269-5271)CGG>TGG p.R1757W NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 1757 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 CCATGCACCCCGGGAGGGGCC 0.692 NA 19 121 0 0 0.007413 0 0 PRSS36 146547 broad.mit.edu 37 16 31154786 31154786 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:31154786C>A uc002ebd.2 - 8 1036 c.977G>T c.(976-978)GGG>GTG p.G326V PRSS36_uc010vff.1_Missense_Mutation_p.G101V|PRSS36_uc010vfg.1_Missense_Mutation_p.G326V|PRSS36_uc010vfh.1_Missense_Mutation_p.G326V NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 326 Peptidase S1 2. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 CGGGGCCTTCCCGCACTCTGA 0.657 NA 56 114 1.19403e-26 1.86727e-26 0.01441 1 0 ARMC5 79798 broad.mit.edu 37 16 31476156 31476156 + Silent SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:31476156T>C uc002ecc.2 + 4 2341 c.1812T>C c.(1810-1812)GAT>GAC p.D604D ARMC5_uc010vfn.1_Silent_p.D699D|ARMC5_uc010vfo.1_Silent_p.D636D|ARMC5_uc002eca.3_Silent_p.D604D|ARMC5_uc010vfp.1_Silent_p.D412D|ARMC5_uc002ecb.2_Silent_p.D604D NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 604 binding pancreas(1) 1 CGCCTGACGATTGGCCGGCAC 0.701 NA 8 10 0 0 0.013537 0 0 CES4 51716 broad.mit.edu 37 16 55806304 55806304 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:55806304G>A uc002eik.2 + 5 606 c.155G>A c.(154-156)GGG>GAG p.G52E CES4_uc010cce.2_Missense_Mutation_p.G52E NR_003276 RecName: Full=Inactive carboxylesterase 4; AltName: Full=Placental carboxylesterase 3; Short=PCE-3; Flags: Precursor; 0 CACAGCCCGGGGAACTGGGGT 0.587 NA 15 12 0 0 0.008871 0 0 MTSS1L 92154 broad.mit.edu 37 16 70712199 70712199 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:70712199G>A uc002ezj.2 - 8 840 c.580C>T c.(580-582)CGG>TGG p.R194W MTSS1L_uc002ezk.1_Missense_Mutation_p.R111W NM_138383 NP_612392 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 194 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding central_nervous_system(1) 1 AAGCGGCCCCGCTCCTCGATC 0.672 NA 17 193 0 0 0.014323 0 0 ZNF19 7567 broad.mit.edu 37 16 71512893 71512893 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:71512893C>G uc010cgc.1 - 4 555 c.49G>C c.(49-51)GAG>CAG p.E17Q ZNF23_uc002fai.2_5'UTR|ZNF19_uc002fak.1_Missense_Mutation_p.E5Q|ZNF19_uc002fal.1_Missense_Mutation_p.E5Q|ZNF19_uc002fam.1_Missense_Mutation_p.E17Q NM_006961 NP_008892 P17023 ZNF19_HUMAN zinc finger protein 19 17 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) GCCACATCCTCGAAGGTCACC 0.562 NA 21 150 0 0 0.003954 0 0 BCMO1 53630 broad.mit.edu 37 16 81320986 81320986 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:81320986G>A uc002fgn.1 + 10 1607 c.1389G>A c.(1387-1389)GCG>GCA p.A463A BCMO1_uc010vnp.1_Silent_p.A394A NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 463 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 TTGTGCCCGCGCCAGGTGCCA 0.517 NA 59 102 0 0 0.01441 0 0 GAN 8139 broad.mit.edu 37 16 81388292 81388292 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:81388292G>T uc002fgo.2 + 3 713 c.565G>T c.(565-567)GTT>TTT p.V189F NM_022041 NP_071324 Q9H2C0 GAN_HUMAN gigaxonin 189 BACK. cell death cytoplasm|neurofilament protein binding ovary(2) 2 Colorectal(91;0.153) GAAGTTAAACGTTGGCAATGA 0.383 GBM(106;1239 1507 7582 9741 33976) NA 83 63 4.64247e-43 7.87434e-43 0.01441 1 0 DULLARD 23399 broad.mit.edu 37 17 7150664 7150664 + Splice_Site SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:7150664T>A uc002gfd.2 - 2 483 c.103_splice c.e2-1 p.V35_splice DULLARD_uc002gfe.2_Splice_Site_p.V35_splice|DULLARD_uc002gff.2_Splice_Site_p.V35_splice|DULLARD_uc002gfc.2_Splice_Site NM_001143775 NP_001137247 O95476 CNEP1_HUMAN dullard homolog nuclear envelope organization|protein dephosphorylation endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein serine/threonine phosphatase activity 0 CTGAATTACCTACAAATAGCA 0.353 NA 27 34 0 0 0.004656 0 0 NLGN2 57555 broad.mit.edu 37 17 7317981 7317981 + Splice_Site SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:7317981G>T uc002ggt.1 + 4 732 c.659_splice c.e4-1 p.G220_splice NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN neuroligin 2 precursor cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1) 1 Prostate(122;0.157) TCTACTCCCAGGTTTTCTCAG 0.607 NA 68 120 1.25089e-41 2.0975e-41 0.01441 1 0 C17orf68 80169 broad.mit.edu 37 17 8141519 8141519 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:8141519C>A uc002gkq.3 - 4 536 c.477G>T c.(475-477)CTG>CTT p.L159L C17orf68_uc010cnv.2_RNA NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 159 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 AACGGGGGAACAGAAAAAGAT 0.532 NA 23 91 1.42536e-11 1.8326e-11 0.004656 1 0 MYH1 4619 broad.mit.edu 37 17 10403991 10403991 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:10403991G>A uc002gmo.2 - 28 3911 c.3817C>T c.(3817-3819)CTG>TTG p.L1273L uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1273 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCATTGATCAGCCGCTGCTGC 0.483 NA 29 62 0 0 0.012213 0 0 C17orf48 56985 broad.mit.edu 37 17 10608454 10608454 + Nonsense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:10608454C>T uc002gmt.2 + 2 286 c.211C>T c.(211-213)CAG>TAG p.Q71* C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Nonsense_Mutation_p.Q71* NM_020233 NP_064618 Q3LIE5 ADPRM_HUMAN ADP-ribose/CDP-alcohol pyrophosphatase 71 ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding 0 TTGTGTCCTTCAGCTTGGAGA 0.433 NA 35 68 0 0 0.010771 0 0 ZNF286A 57335 broad.mit.edu 37 17 15620368 15620368 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:15620368G>T uc010cot.2 + 6 1726 c.1330G>T c.(1330-1332)GGG>TGG p.G444W ZNF286A_uc002goz.3_Missense_Mutation_p.G332W|ZNF286A_uc010vwa.1_Missense_Mutation_p.G444W|ZNF286A_uc002gpa.2_Missense_Mutation_p.G444W NM_001130842 NP_001124314 Q9HBT8 Z286A_HUMAN zinc finger protein 286 444 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) TAATGAATGTGGGAAAACCTT 0.393 NA 9 34 1.76689e-08 2.10595e-08 0.006214 1 0 MYO15A 51168 broad.mit.edu 37 17 18023558 18023558 + Nonsense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:18023558C>T uc010vxh.1 + 2 1782 c.1444C>T c.(1444-1446)CGA>TGA p.R482* NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 482 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CCTCTTCCCGCGACCCCAGGT 0.632 NA 29 46 0 0 0.013726 0 0 CYTSB 92521 broad.mit.edu 37 17 20217341 20217341 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:20217341A>T uc002gwq.2 + 15 3315 c.3170A>T c.(3169-3171)CAG>CTG p.Q1057L CYTSB_uc002gws.2_Missense_Mutation_p.Q1057L|CYTSB_uc002gwv.2_Missense_Mutation_p.Q976L|CYTSB_uc010vzf.1_Missense_Mutation_p.Q397L|CYTSB_uc002gww.2_Missense_Mutation_p.Q794L NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 1057 CH. nucleus 0 AGTGTGATGCAGTACGTGGCC 0.572 NA 17 28 0 0 0.00499 0 0 SUPT6H 6830 broad.mit.edu 37 17 27011938 27011938 + Nonsense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:27011938A>T uc002hby.2 + 19 2536 c.2446A>T c.(2446-2448)AAA>TAA p.K816* SUPT6H_uc010crt.2_Nonsense_Mutation_p.K816* NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 816 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) CCATTTTACCAAACGGCGAAC 0.493 NA 47 49 0 0 0.01441 0 0 FNDC8 54752 broad.mit.edu 37 17 33448781 33448781 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:33448781C>A uc002hix.2 + 1 151 c.69C>A c.(67-69)AAC>AAA p.N23K RFFL_uc002hiq.2_5'Flank|RAD51L3_uc002hir.2_5'Flank|RAD51L3_uc010wcd.1_5'Flank|RAD51L3_uc002his.2_5'Flank|RAD51L3_uc010ctk.2_5'Flank|RAD51L3_uc010wce.1_5'Flank|RAD51L3_uc002hit.2_5'Flank|RAD51L3_uc002hiu.2_5'Flank|RAD51L3_uc010wcf.1_5'Flank|RAD51L3_uc002hiw.1_5'Flank|RAD51L3_uc002hiv.1_5'Flank|RAD51L3_uc010ctl.1_5'Flank|RAD51L3_uc010ctm.1_5'Flank NM_017559 NP_060029 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 23 ovary(2) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) AAAACTTCAACATGATGAATG 0.502 NA 18 159 0.00074312 0.00078589 0.006122 1 0 CCL23 6368 broad.mit.edu 37 17 34340789 34340789 + Silent SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:34340789A>C uc002hkt.1 - 3 317 c.246T>G c.(244-246)GGT>GGG p.G82G CCL23_uc002hks.1_Silent_p.G99G NM_145898 NP_665905 P55773 CCL23_HUMAN small inducible cytokine A23 isoform CKbeta8 82 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) CCTACATGACACCCGGCTTGG 0.542 NA 15 60 0 0 0.00499 0 0 KRT33B 3884 broad.mit.edu 37 17 39521447 39521447 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:39521447G>T uc002hwl.2 - 5 901 c.856C>A c.(856-858)CTG>ATG p.L286M NM_002279 NP_002270 Q14525 KT33B_HUMAN type I hair keratin 3B 286 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) TGGGCCTGCAGCTCGATCTCC 0.592 NA 45 176 2.23044e-30 3.58986e-30 0.01441 1 0 BECN1 8678 broad.mit.edu 37 17 40966604 40966604 + Silent SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:40966604A>G uc002ibo.3 - 9 1053 c.918T>C c.(916-918)GCT>GCC p.A306A BECN1_uc010whb.1_Silent_p.A219A|BECN1_uc010whc.1_Silent_p.A230A|BECN1_uc002ibn.2_Silent_p.A306A NM_003766 NP_003757 Q14457 BECN1_HUMAN beclin 1 306 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding ovary(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) TCTGGCCCCAAGCAGCATTAA 0.512 NA 28 91 0 0 0.00632 0 0 Unknown 0 broad.mit.edu 37 17 45127206 45127206 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:45127206G>C uc010wkj.1 + 2 758 c.404G>C c.(403-405)AGA>ACA p.R135T uc010wkl.1_RNA SubName: Full=Putative uncharacterized protein LRRC37A3; NA GTGAGAGACAGATGGAAAGAC 0.458 NA 61 135 0 0 0.01441 0 0 HOXB4 3214 broad.mit.edu 37 17 46655326 46655326 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:46655326G>T uc002inp.2 - 1 418 c.356C>A c.(355-357)CCG>CAG p.P119Q HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron NM_024015 NP_076920 P17483 HXB4_HUMAN homeobox B4 119 Pro-rich (part of the transcriptional activation domain). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCAGGGAGGCGGCGGGGGGCT 0.731 NA 13 60 6.31663e-08 7.46818e-08 0.003163 1 0 GIP 2695 broad.mit.edu 37 17 47041781 47041781 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:47041781G>A uc002iol.1 - 3 246 c.148C>T c.(148-150)CCC>TCC p.P50S NM_004123 NP_004114 P09681 GIP_HUMAN gastric inhibitory polypeptide preproprotein 50 energy reserve metabolic process|signal transduction extracellular region|soluble fraction hormone activity skin(1) 1 GCGTACCTGGGGCCTCGAGGT 0.567 NA 22 177 0 0 0.014323 0 0 NGFR 4804 broad.mit.edu 37 17 47583901 47583901 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:47583901C>A uc002ioz.3 + 3 574 c.449C>A c.(448-450)CCC>CAC p.P150H NM_002507 NP_002498 P08138 TNR16_HUMAN nerve growth factor receptor precursor 150 Extracellular (Potential).|TNFR-Cys 4. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm ovary(1)|lung(1) 2 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) GAGGAGTGCCCCGACGGCACG 0.701 NA 8 56 1.12685e-05 1.24547e-05 0.004482 1 0 BCAS3 54828 broad.mit.edu 37 17 59445833 59445833 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:59445833G>T uc002iyv.3 + 24 2725 c.2616G>T c.(2614-2616)CGG>CGT p.R872R BCAS3_uc002iyu.3_Silent_p.R857R|BCAS3_uc002iyw.3_Silent_p.R853R|BCAS3_uc002iyy.3_Silent_p.R628R|BCAS3_uc002iyz.3_Silent_p.R426R|BCAS3_uc002iza.3_Silent_p.R411R|BCAS3_uc002izb.3_RNA|BCAS3_uc002izc.3_RNA|BCAS3_uc002izd.3_5'UTR NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 872 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) CACCTAGCCGGGACGTCGTGG 0.612 NA 10 47 3.99206e-14 5.38378e-14 0.007413 1 0 ICAM2 3384 broad.mit.edu 37 17 62081303 62081303 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:62081303A>T uc002jdu.3 - 3 582 c.350T>A c.(349-351)CTG>CAG p.L117Q C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.L117Q|ICAM2_uc010ded.2_Missense_Mutation_p.L117Q|ICAM2_uc002jdx.3_Missense_Mutation_p.L117Q|ICAM2_uc002jdv.3_Missense_Mutation_p.L117Q NM_000873 NP_000864 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 precursor 117 Extracellular (Potential). cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding ovary(1) 1 TTGCAGTGTCAGGATGACCTG 0.637 NA 4 60 0 0 0.009096 0 0 GPS1 2873 broad.mit.edu 37 17 80011904 80011904 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:80011904G>A uc002kdl.1 + 3 332 c.287G>A c.(286-288)CGC>CAC p.R96H RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Missense_Mutation_p.R136H|GPS1_uc010dij.1_Missense_Mutation_p.R136H|GPS1_uc002kdm.1_Missense_Mutation_p.R80H|GPS1_uc002kdn.1_Missense_Mutation_p.R96H|GPS1_uc002kdo.1_Missense_Mutation_p.R96H|GPS1_uc010wvh.1_Missense_Mutation_p.R88H NM_004127 NP_004118 Q13098 CSN1_HUMAN G protein pathway suppressor 1 isoform 2 96 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GAGATCCACCGCAAGCTCTCA 0.632 NA 25 21 0 0 0.008361 0 0 KIAA1012 22878 broad.mit.edu 37 18 29446938 29446938 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr18:29446938C>A uc002kxc.3 - 18 2828 c.2464G>T c.(2464-2466)GCA>TCA p.A822S KIAA1012_uc002kxb.3_Missense_Mutation_p.A768S|KIAA1012_uc002kxd.3_RNA NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 822 ER to Golgi vesicle-mediated transport cis-Golgi network 0 TTTAGTCTTGCCTGTGGAGAT 0.358 NA 15 20 2.23348e-06 2.50628e-06 0.004007 1 0 CDH7 1005 broad.mit.edu 37 18 63511297 63511297 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr18:63511297G>T uc002ljz.2 + 7 1556 c.1231G>T c.(1231-1233)GTG>TTG p.V411L CDH7_uc002lka.2_Missense_Mutation_p.V411L|CDH7_uc002lkb.2_Missense_Mutation_p.V411L NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 411 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) CAATAGCCCTGTGAGGTAAAA 0.423 NA 9 53 3.09899e-07 3.54975e-07 0.004482 1 0 TRIP10 9322 broad.mit.edu 37 19 6750571 6750571 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:6750571G>A uc002mfs.2 + 14 1650 c.1584G>A c.(1582-1584)ACG>ACA p.T528T TRIP10_uc010dux.1_Silent_p.T472T|TRIP10_uc002mfr.2_Silent_p.T472T|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Silent_p.T291T NM_004240 NP_004231 Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 528 Interaction with CDC42.|Interaction with PDE6G (By similarity).|Interaction with DNM2 and WASL (By similarity).|Required for interaction with FASLG and localization to lysosomes. actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding ovary(1) 1 CCATTTACACGGAGTTTGATG 0.557 NA 18 126 0 0 0.010504 0 0 MUC16 94025 broad.mit.edu 37 19 9062932 9062932 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:9062932G>T uc002mkp.2 - 3 24718 c.24514C>A c.(24514-24516)CTC>ATC p.L8172I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8174 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GACACTGTGAGCTGAGCAAAG 0.502 NA 42 108 2.37825e-27 3.73241e-27 0.010771 1 0 ZNF490 57474 broad.mit.edu 37 19 12719994 12719994 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:12719994C>T uc002mtz.2 - 2 269 c.140G>A c.(139-141)GGA>GAA p.G47E ZNF791_uc002mua.2_5'Flank|ZNF791_uc010xml.1_5'Flank|ZNF791_uc010dyu.1_5'Flank|ZNF791_uc010xmm.1_5'Flank NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN zinc finger protein 490 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GATGCTTTGTCCATGGTGTTC 0.418 NA 16 41 0 0 0.012319 0 0 ZNF208 7757 broad.mit.edu 37 19 22154366 22154366 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:22154366C>A uc002nqp.2 - 6 3235 c.3086G>T c.(3085-3087)AGT>ATT p.S1029I ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CTTATGATAACTAAGGGTTGA 0.358 NA 8 20 1.06961e-07 1.25119e-07 0.00308 1 0 RPSAP58 388524 broad.mit.edu 37 19 24010122 24010122 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:24010122G>C uc002nrn.2 + 4 582 c.159G>C c.(157-159)AGG>AGC p.R53S NM_002295 NP_002286 ribosomal protein SA 0 ATCTCAAGAGGACCTGGGAGA 0.468 NA 6 54 0 0 0.006214 0 0 RPSAP58 388524 broad.mit.edu 37 19 24010315 24010315 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:24010315G>A uc002nrn.2 + 4 775 c.352G>A c.(352-354)GAG>AAG p.E118K NM_002295 NP_002286 ribosomal protein SA 0 AGCCTTCTGGGAGCCACGGCT 0.562 NA 8 48 0 0 0.003163 0 0 POP4 10775 broad.mit.edu 37 19 30102776 30102776 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:30102776C>G uc002nsf.2 + 4 348 c.292C>G c.(292-294)CTT>GTT p.L98V POP4_uc002nsg.2_Missense_Mutation_p.L17V NM_006627 NP_006618 O95707 RPP29_HUMAN processing of precursor 4 98 mRNA cleavage|rRNA processing|tRNA processing nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease P activity|RNA binding 0 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) CAGATACAGCCTTTTCCTCCC 0.463 Melanoma(89;1165 1449 14085 34436 43672) NA 47 130 0 0 0.01441 0 0 LIN37 55957 broad.mit.edu 37 19 36244981 36244981 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:36244981G>A uc002obm.2 + 8 622 c.508G>A c.(508-510)GGG>AGG p.G170R uc002obl.2_5'Flank NM_019104 NP_061977 Q96GY3 LIN37_HUMAN lin-37 homolog 170 Pro-rich. protein binding 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACACCCCCGGGGCCACCCGG 0.642 NA 38 86 0 0 0.01441 0 0 HKR1 284459 broad.mit.edu 37 19 37853356 37853356 + Missense_Mutation SNP G G T rs143859791 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:37853356G>T uc002ogb.2 + 6 928 c.659G>T c.(658-660)AGC>ATC p.S220I HKR1_uc002ofx.2_5'UTR|HKR1_uc002ofy.2_5'UTR|HKR1_uc002oga.2_Missense_Mutation_p.S202I|HKR1_uc010xto.1_Missense_Mutation_p.S202I|HKR1_uc002ogc.2_Missense_Mutation_p.S201I|HKR1_uc010xtp.1_Missense_Mutation_p.S159I|HKR1_uc002ogd.2_Missense_Mutation_p.S159I NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 220 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATAGGGTCCAGCCCTGAACGG 0.473 NA 48 97 1.05386e-31 1.70238e-31 0.01441 1 0 ZNF527 84503 broad.mit.edu 37 19 37879423 37879423 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:37879423A>G uc010efk.1 + 5 583 c.472A>G c.(472-474)ACT>GCT p.T158A ZNF527_uc002ogf.3_Missense_Mutation_p.T126A|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGAAATCTCTACTGGGAAAAG 0.398 NA 33 44 0 0 0.006999 0 0 FBXO27 126433 broad.mit.edu 37 19 39522510 39522510 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:39522510C>A uc002okh.2 - 2 440 c.358G>T c.(358-360)GGC>TGC p.G120C NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 120 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CCACCTTGGCCGCAGGGGTTG 0.701 NA 12 38 2.32078e-09 2.83509e-09 0.003163 1 0 ZNF780B 163131 broad.mit.edu 37 19 40541960 40541960 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:40541960C>A uc002omu.2 - 5 871 c.806G>T c.(805-807)AGT>ATT p.S269I ZNF780B_uc002omv.2_Missense_Mutation_p.S121I NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 269 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AGCATGAATACTTTGATGCTG 0.358 NA 14 60 1.3612e-06 1.54316e-06 0.003163 1 0 ZNF780A 284323 broad.mit.edu 37 19 40581109 40581109 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:40581109T>C uc002omy.2 - 6 1465 c.1240A>G c.(1240-1242)ATA>GTA p.I414V ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.I414V|ZNF780A_uc010xvh.1_Missense_Mutation_p.I415V NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TATGGTTTTATACCAGCATGA 0.383 NA 3 201 0 0 0.004672 0 0 PSG7 5676 broad.mit.edu 37 19 43430068 43430068 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:43430068G>T uc002ovl.3 - 6 1202 c.1100C>A c.(1099-1101)ACA>AAA p.T367K PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Missense_Mutation_p.T280K|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Missense_Mutation_p.T93K|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.T280K|PSG7_uc010xwl.1_Missense_Mutation_p.T245K NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 367 Ig-like C2-type 3. female pregnancy extracellular region 0 Prostate(69;0.00682) CCCATTAATTGTCCAAGAATA 0.458 NA 86 232 4.31119e-35 7.09416e-35 0.01441 1 0 ZNF227 7770 broad.mit.edu 37 19 44740634 44740634 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:44740634G>T uc002oyu.2 + 6 2256 c.2051G>T c.(2050-2052)GGA>GTA p.G684V ZNF227_uc010xwu.1_Missense_Mutation_p.G633V|ZNF227_uc002oyv.2_Missense_Mutation_p.G684V|ZNF227_uc010xwv.1_Missense_Mutation_p.G633V|ZNF227_uc010xww.1_Missense_Mutation_p.G605V|ZNF227_uc002oyw.2_Missense_Mutation_p.G656V|ZNF227_uc010ejh.2_Missense_Mutation_p.G677V|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 684 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) GGCCACACTGGAGAAAAACCT 0.468 NA 20 59 6.44725e-10 8.00912e-10 0.014323 1 0 MED25 81857 broad.mit.edu 37 19 50334694 50334694 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:50334694G>T uc002ppw.1 + 10 1259 c.1206G>T c.(1204-1206)TGG>TGT p.W402C MED25_uc010ybe.1_Missense_Mutation_p.W189C|MED25_uc002ppx.1_Missense_Mutation_p.W183C NM_030973 NP_112235 Q71SY5 MED25_HUMAN mediator complex subunit 25 402 Interaction with VP16.|Interaction with CREBBP. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) TTCTGGCCTGGAGCGGGGTCC 0.687 GBM(51;894 1657 37868) NA 12 20 0.000308642 0.000328771 0.003163 1 0 SHANK1 50944 broad.mit.edu 37 19 51189549 51189549 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:51189549G>T uc002psx.1 - 20 2541 c.2522C>A c.(2521-2523)CCC>CAC p.P841H SHANK1_uc002psw.1_Missense_Mutation_p.P225H NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 841 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GAGGCCACCGGGACCAGGGCT 0.592 NA 30 97 1.30897e-18 1.88646e-18 0.009535 1 0 SIGLEC6 946 broad.mit.edu 37 19 52034721 52034721 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:52034721C>A uc002pwy.2 - 2 282 c.120G>T c.(118-120)ACG>ACT p.T40T SIGLEC6_uc002pwz.2_Silent_p.T40T|SIGLEC6_uc002pxa.2_Silent_p.T40T|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Silent_p.T29T|SIGLEC6_uc010eoz.1_Silent_p.T29T|SIGLEC6_uc010epb.1_Intron|SIGLEC6_uc010epa.1_Silent_p.T29T NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 40 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CCTCCTGCACCGTCAGTGACT 0.627 NA 11 85 5.50884e-06 6.13484e-06 0.013537 1 0 ZNF320 162967 broad.mit.edu 37 19 53384141 53384141 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:53384141T>C uc002qag.2 - 4 1429 c.1238A>G c.(1237-1239)TAC>TGC p.Y413C ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.Y359C|ZNF320_uc002qai.2_Missense_Mutation_p.Y413C NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 413 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TTCACATTCGTAAAGTTTCTC 0.393 NA 24 48 0 0 0.003271 0 0 LILRB2 10288 broad.mit.edu 37 19 54782754 54782754 + Missense_Mutation SNP A A G rs143661416 byFrequency TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:54782754A>G uc002qfb.2 - 6 1134 c.868T>C c.(868-870)TAC>CAC p.Y290H LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.Y290H|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.Y290H|LILRB2_uc010yet.1_Missense_Mutation_p.Y174H|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 290 Extracellular (Potential).|Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGCCCCCGTAGGAGCGGCTC 0.667 NA 26 39 0 0 0.004878 0 0 LILRA2 11027 broad.mit.edu 37 19 55086877 55086877 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:55086877G>T uc002qgg.3 + 5 899 c.810G>T c.(808-810)CAG>CAT p.Q270H LILRA2_uc010ern.2_Missense_Mutation_p.Q270H|LILRA2_uc002qgf.2_Missense_Mutation_p.Q270H|LILRA2_uc010yfe.1_Missense_Mutation_p.Q270H|LILRA2_uc010yff.1_Missense_Mutation_p.Q258H|LILRA2_uc010ero.2_Missense_Mutation_p.Q258H|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 270 Ig-like C2-type 3.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CTGGTTGGCAGCCCCAGGCTG 0.617 NA 56 107 2.12129e-23 3.21473e-23 0.01441 1 0 LILRA1 11024 broad.mit.edu 37 19 55106723 55106723 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:55106723C>A uc002qgh.1 + 5 699 c.517C>A c.(517-519)CGT>AGT p.R173S LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.R173S NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 173 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CTCACAGCCCCGTACCCATGG 0.567 NA 77 210 6.8793e-45 1.17134e-44 0.01441 1 0 NLRP7 199713 broad.mit.edu 37 19 55450745 55450745 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:55450745G>C uc002qih.3 - 4 1518 c.1442C>G c.(1441-1443)GCC>GGC p.A481G NLRP7_uc002qig.3_Missense_Mutation_p.A481G|NLRP7_uc002qii.3_Missense_Mutation_p.A481G|NLRP7_uc010esk.2_Missense_Mutation_p.A481G|NLRP7_uc010esl.2_Missense_Mutation_p.A509G NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 481 NACHT. A -> T (in Ref. 4; AAI09126). ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CTTCTCCAGGGCGTAGAACAG 0.592 NA 41 83 0 0 0.01441 0 0 ZNF460 10794 broad.mit.edu 37 19 57802481 57802481 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:57802481C>T uc002qog.2 + 3 894 c.572C>T c.(571-573)CCT>CTT p.P191L ZNF460_uc010ygv.1_Missense_Mutation_p.P150L NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGATTCTCCCTCGTGTGAAG 0.448 NA 59 126 0 0 0.01441 0 0 ZNF416 55659 broad.mit.edu 37 19 58084737 58084737 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:58084737C>A uc002qpf.2 - 4 706 c.535G>T c.(535-537)GAC>TAC p.D179Y ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) GCTAGGAAGTCCTTCCCAACC 0.483 NA 40 97 3.61848e-18 5.17398e-18 0.007835 1 0 A1BG 1 broad.mit.edu 37 19 58858921 58858921 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:58858921G>T uc002qsd.3 - 7 1340 c.1278C>A c.(1276-1278)CCC>CCA p.P426P NCRNA00181_uc002qse.2_5'Flank NM_130786 NP_570602 P04217 A1BG_HUMAN alpha 1B-glycoprotein precursor 426 Ig-like V-type 5. extracellular region 0 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) CGTCGGGGATGGGTCCCTCGC 0.741 NA 10 16 3.07112e-06 3.43747e-06 0.010729 1 0 TPO 7173 broad.mit.edu 37 2 1426848 1426848 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:1426848C>A uc002qww.2 + 3 217 c.126C>A c.(124-126)GTC>GTA p.V42V TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.V42V|TPO_uc002qwu.2_Silent_p.V42V|TPO_uc002qwr.2_Silent_p.V42V|TPO_uc002qwx.2_Silent_p.V42V|TPO_uc010yio.1_Silent_p.V42V|TPO_uc010yip.1_Silent_p.V42V NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 42 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TCTCTAGCGTCTTGGAGGAAA 0.582 NA 27 73 7.11191e-15 9.6801e-15 0.013726 1 0 APOB 338 broad.mit.edu 37 2 21233375 21233375 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:21233375G>T uc002red.2 - 26 6493 c.6365C>A c.(6364-6366)GCT>GAT p.A2122D NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2122 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATAATCATTAGCTTGCTGTGG 0.368 NA 20 22 2.89027e-11 3.65217e-11 0.014323 1 0 EIF2B4 8890 broad.mit.edu 37 2 27590037 27590037 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:27590037C>A uc002rkb.2 - 10 1060 c.917G>T c.(916-918)CGG>CTG p.R306L EIF2B4_uc002rjz.2_Missense_Mutation_p.R326L|EIF2B4_uc002rka.2_Missense_Mutation_p.R291L|EIF2B4_uc002rkc.2_Missense_Mutation_p.R305L|EIF2B4_uc002rkd.2_Missense_Mutation_p.R100L|EIF2B4_uc002rke.2_Missense_Mutation_p.R275L|EIF2B4_uc002rkf.1_3'UTR NM_001034116 NP_001029288 Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, 306 R -> G. myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGCACATACCGATCAATGGC 0.433 NA 72 181 4.18771e-30 6.71557e-30 0.01441 1 0 NRXN1 9378 broad.mit.edu 37 2 50318616 50318616 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:50318616C>A uc010fbp.2 - 3 1265 c.458G>T c.(457-459)GGA>GTA p.G153V NRXN1_uc002rxb.3_Missense_Mutation_p.G860V|NRXN1_uc010fbq.2_Missense_Mutation_p.G1228V|NRXN1_uc002rxe.3_Missense_Mutation_p.G1188V NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 153 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAACTTAACTCCAATTTTTCC 0.363 NA 28 74 4.22769e-11 5.3269e-11 0.00632 1 0 PPP3R1 5534 broad.mit.edu 37 2 68413773 68413773 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:68413773T>C uc002sei.1 - 5 684 c.292A>G c.(292-294)ATC>GTC p.I98V NM_000945 NP_000936 P63098 CANB1_HUMAN protein phosphatase 3, regulatory subunit B, 98 EF-hand 3. activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals calcineurin complex|cytosol calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding 0 Pimecrolimus(DB00337) ATGTCATAGATACGGAAAGCA 0.348 NA 7 11 0 0 0.00308 0 0 PLEK 5341 broad.mit.edu 37 2 68607985 68607985 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:68607985C>A uc002sen.3 + 3 491 c.329C>A c.(328-330)GCC>GAC p.A110D PLEK_uc010fde.2_Missense_Mutation_p.A110D NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 110 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CAGAAATTTGCCAGGAAATCT 0.473 NA 90 202 4.98208e-43 8.41799e-43 0.01441 1 0 LRRTM4 80059 broad.mit.edu 37 2 77745546 77745546 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:77745546C>A uc002snr.2 - 3 1864 c.1449G>T c.(1447-1449)GAG>GAT p.E483D LRRTM4_uc002snq.2_Missense_Mutation_p.E483D|LRRTM4_uc002sns.2_Missense_Mutation_p.E483D|LRRTM4_uc002snt.2_Missense_Mutation_p.E484D NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 483 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CCACATAATACTCCTGTAAAG 0.473 NA 3 24 0.004672 0.00489395 0.004672 1 0 SLC9A4 389015 broad.mit.edu 37 2 103095664 103095664 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:103095664C>T uc002tbz.3 + 2 1080 c.623C>T c.(622-624)CCA>CTA p.P208L NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 208 Helical; Name=F/M5A; (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 GCCGTGGACCCAGTGGCCGTG 0.597 NA 10 19 0 0 0.00245 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881745 108881745 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:108881745T>C uc010ywo.1 + 7 853 c.853T>C c.(853-855)TTT>CTT p.F285L NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 285 cytoplasm alcohol sulfotransferase activity skin(1) 1 AAATGAAGAATTTGACAAGGA 0.473 NA 22 56 0 0 0.004656 0 0 MAP3K2 10746 broad.mit.edu 37 2 128088066 128088066 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:128088066T>C uc002toj.1 - 5 345 c.280A>G c.(280-282)ACT>GCT p.T94A MAP3K2_uc010flz.1_Missense_Mutation_p.T94A NM_006609 NP_006600 Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 94 OPR. activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) TCTTGAGTAGTTAATGGAATT 0.378 NA 2 10 0 0 0.004672 0 0 LRP1B 53353 broad.mit.edu 37 2 141812830 141812830 + Splice_Site SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:141812830T>A uc002tvj.1 - 10 2381 c.1409_splice c.e10-1 p.V470_splice LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 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) GGCTTCTGACTACAACAAATA 0.398 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 6 21 0 0 0.001168 0 0 NEB 4703 broad.mit.edu 37 2 152522052 152522052 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:152522052T>A uc010fnx.2 - 42 5224 c.5033A>T c.(5032-5034)AAT>ATT p.N1678I NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1678 Nebulin 43. 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 ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTTGTACAGATTCTTTACAAT 0.398 NA 9 15 0 0 0.008291 0 0 SCN3A 6328 broad.mit.edu 37 2 165997321 165997321 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:165997321C>T uc002ucx.2 - 13 2351 c.1859G>A c.(1858-1860)CGA>CAA p.R620Q SCN3A_uc002ucy.2_Missense_Mutation_p.R620Q|SCN3A_uc002ucz.2_Missense_Mutation_p.R620Q|SCN3A_uc002uda.1_Missense_Mutation_p.R489Q|SCN3A_uc002udb.1_Missense_Mutation_p.R489Q NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 620 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) ACTGTTGCGTCGCTCTCCATG 0.498 NA 18 50 0 0 0.007413 0 0 OLA1 29789 broad.mit.edu 37 2 175111467 175111467 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:175111467C>A uc002uih.2 - 2 263 c.77G>T c.(76-78)GGT>GTT p.G26V OLA1_uc002uii.2_Intron|OLA1_uc010fqq.2_Missense_Mutation_p.G26V|OLA1_uc002uij.2_Intron|OLA1_uc002uik.2_5'UTR|OLA1_uc010fqr.2_Missense_Mutation_p.G26V NM_013341 NP_037473 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 isoform 1 26 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding ovary(1)|breast(1) 2 TCCAACAATACCAATTTTCAG 0.398 NA 31 100 1.45844e-13 1.95492e-13 0.013726 1 0 GPR155 151556 broad.mit.edu 37 2 175300882 175300882 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:175300882C>T uc002uit.2 - 17 2966 c.2575G>A c.(2575-2577)GAG>AAG p.E859K GPR155_uc002uiu.2_Missense_Mutation_p.E859K|GPR155_uc002uiv.2_Missense_Mutation_p.E859K|GPR155_uc010fqs.2_Missense_Mutation_p.E831K NM_001033045 NP_001028217 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 isoform 9 859 intracellular signal transduction|transmembrane transport integral to membrane ovary(1) 1 GATGAATGCTCAATTTCTTTA 0.393 NA 4 164 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179415733 179415733 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:179415733A>T uc010zfg.1 - 285 84045 c.83821T>A c.(83821-83823)TCA>ACA p.S27941T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S21636T|TTN_uc010zfi.1_Missense_Mutation_p.S21569T|TTN_uc010zfj.1_Missense_Mutation_p.S21444T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28868 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAAGACTGTGAGGGCGGGCTT 0.388 NA 8 20 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179422644 179422644 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:179422644A>T uc010zfg.1 - 277 79957 c.79733T>A c.(79732-79734)GTT>GAT p.V26578D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V20273D|TTN_uc010zfi.1_Missense_Mutation_p.V20206D|TTN_uc010zfj.1_Missense_Mutation_p.V20081D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27505 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCACTAATAACAACAGGGCC 0.433 NA 45 260 0 0 0.01441 0 0 TTN 7273 broad.mit.edu 37 2 179474458 179474458 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:179474458C>A uc010zfg.1 - 221 44212 c.43988G>T c.(43987-43989)AGT>ATT p.S14663I uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S8358I|TTN_uc010zfi.1_Missense_Mutation_p.S8291I|TTN_uc010zfj.1_Missense_Mutation_p.S8166I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15590 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGAAGGTTCACTAATACCCGC 0.448 NA 52 138 2.43468e-25 3.7281e-25 0.01441 1 0 TTN 7273 broad.mit.edu 37 2 179610734 179610734 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:179610734G>T uc002unb.2 - 46 16617 c.16393C>A c.(16393-16395)CGG>AGG p.R5465R TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGAATCCCCGACAGATAGCC 0.408 NA 36 92 1.04594e-18 1.5173e-18 0.00623 1 0 MARS2 92935 broad.mit.edu 37 2 198571112 198571112 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:198571112G>A uc002uuq.2 + 1 1026 c.983G>A c.(982-984)GGC>GAC p.G328D uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 328 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) TTAGGGGCCGGCATGAGCCCG 0.542 NA 6 351 0 0 0.001984 0 0 ADAM23 8745 broad.mit.edu 37 2 207437900 207437900 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:207437900G>T uc002vbq.2 + 18 1941 c.1718G>T c.(1717-1719)TGT>TTT p.C573F ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 573 Disintegrin.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) ACTGAATATTGTACTGGAGAC 0.308 Melanoma(194;1127 2130 19620 24042 27855) NA 63 161 1.55545e-33 2.53119e-33 0.01441 1 0 ZNF142 7701 broad.mit.edu 37 2 219503486 219503486 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:219503486C>A uc002vin.2 - 10 5076 c.4640G>T c.(4639-4641)CGG>CTG p.R1547L ZNF142_uc002vil.2_Missense_Mutation_p.R1508L|ZNF142_uc010fvt.2_Missense_Mutation_p.R1384L|ZNF142_uc002vim.2_Missense_Mutation_p.R1384L NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1547 C2H2-type 28. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGCATCAGCCCGGTTGGTGCA 0.572 Colon(170;867 1942 8995 15834 18053) NA 12 32 1.02788e-11 1.33323e-11 0.00499 1 0 STK36 27148 broad.mit.edu 37 2 219562210 219562210 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:219562210C>T uc002viu.2 + 24 3052 c.2786C>T c.(2785-2787)GCC>GTC p.A929V STK36_uc002viv.2_Missense_Mutation_p.A908V|STK36_uc002viw.2_Missense_Mutation_p.A107V|STK36_uc002vix.2_5'UTR NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 929 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CTGAGCCTGGCCATGGCCACC 0.587 NA 17 61 0 0 0.006122 0 0 STK36 27148 broad.mit.edu 37 2 219563440 219563440 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:219563440C>T uc002viu.2 + 26 3439 c.3173C>T c.(3172-3174)TCC>TTC p.S1058F STK36_uc002viv.2_Missense_Mutation_p.S1037F|STK36_uc002viw.2_Missense_Mutation_p.S236F|STK36_uc002vix.2_Missense_Mutation_p.S103F NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1058 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GTGTCTGCCTCCCCTAGAACC 0.572 NA 116 284 0 0 0.01441 0 0 ACCN4 55515 broad.mit.edu 37 2 220379514 220379514 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:220379514C>A uc002vma.2 + 1 463 c.449C>A c.(448-450)GCA>GAA p.A150E ACCN4_uc010fwi.1_Missense_Mutation_p.A150E|ACCN4_uc010fwj.1_Missense_Mutation_p.A150E|ACCN4_uc002vly.1_Missense_Mutation_p.A150E|ACCN4_uc002vlz.2_Missense_Mutation_p.A150E|ACCN4_uc002vmb.2_5'Flank NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 150 Cytoplasmic (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) GAGAAGGAGGCAGGGGATGAG 0.632 NA 50 154 9.55421e-19 1.39056e-18 0.01441 1 0 CUL3 8452 broad.mit.edu 37 2 225376300 225376300 + Splice_Site SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:225376300C>T uc002vny.2 - 6 1039 c.655_splice c.e6-1 p.M219_splice CUL3_uc010zls.1_Splice_Site_p.M153_splice|CUL3_uc010fwy.1_Splice_Site_p.M225_splice NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) GGCTTTCCATCTGCCatttaa 0.289 NA 17 31 0 0 0.004007 0 0 ARMC9 80210 broad.mit.edu 37 2 232141472 232141472 + Silent SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:232141472C>G uc002vrq.3 + 15 1570 c.1458C>G c.(1456-1458)CTC>CTG p.L486L ARMC9_uc002vrp.3_Silent_p.L486L|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 486 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TCATGAACCTCTGCCTCCGCA 0.537 NA 12 144 0 0 0.003163 0 0 DIS3L2 129563 broad.mit.edu 37 2 233075098 233075098 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:233075098G>T uc010fxz.2 + 10 1463 c.1187G>T c.(1186-1188)TGC>TTC p.C396F DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 396 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) GCCCTCTCCTGCAAGCCACTC 0.507 NA 19 57 6.32553e-13 8.35197e-13 0.004656 1 0 NOP56 10528 broad.mit.edu 37 20 2638609 2638609 + Missense_Mutation SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr20:2638609A>C uc002wgh.2 + 12 1507 c.1454A>C c.(1453-1455)CAA>CCA p.Q485P NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.Q319P|NOP56_uc002wgm.1_3'UTR NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 485 Lys-rich. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 AAGAAAAAGCAAAAGCCCCAG 0.428 NA 177 278 0 0 0.01441 0 0 CRNKL1 51340 broad.mit.edu 37 20 20031146 20031146 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr20:20031146C>A uc002wrs.2 - 3 687 c.655G>T c.(655-657)GAA>TAA p.E219* C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Nonsense_Mutation_p.E207* NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 219 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 TCATTTAATTCTTCTTCATCT 0.388 NA 28 72 9.39395e-14 1.26303e-13 0.00632 1 0 KIAA1755 85449 broad.mit.edu 37 20 36868046 36868046 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr20:36868046G>A uc002xhy.1 - 4 1903 c.1631C>T c.(1630-1632)GCT>GTT p.A544V KIAA1755_uc002xhz.1_Missense_Mutation_p.A544V NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 544 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) GCCTGCAGAAGCTTCTGGCAA 0.602 NA 37 116 0 0 0.011902 0 0 HNF4A 3172 broad.mit.edu 37 20 43048493 43048493 + Missense_Mutation SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr20:43048493A>C uc002xma.2 + 7 958 c.869A>C c.(868-870)AAA>ACA p.K290T HNF4A_uc002xlt.2_Missense_Mutation_p.K268T|HNF4A_uc002xlu.2_Missense_Mutation_p.K268T|HNF4A_uc002xlv.2_Missense_Mutation_p.K268T|HNF4A_uc002xly.2_Missense_Mutation_p.K290T|HNF4A_uc002xlz.2_Missense_Mutation_p.K290T|HNF4A_uc010ggq.2_Missense_Mutation_p.K283T NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 290 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCTACCTCAAAGCCATCATC 0.547 Colon(79;2 1269 8820 14841 52347) NA 45 147 0 0 0.01441 0 0 BIRC7 79444 broad.mit.edu 37 20 61870735 61870735 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr20:61870735G>T uc002yej.2 + 6 848 c.675G>T c.(673-675)CAG>CAT p.Q225H BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Intron NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN livin inhibitor of apoptosis isoform alpha 225 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(38;2.72e-09) CCGAGGCCCAGAGGGCGTGGT 0.692 NA 63 56 9.65139e-37 1.60614e-36 0.01441 1 0 POTED 317754 broad.mit.edu 37 21 14983042 14983042 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:14983042G>T uc002yjb.1 + 1 545 c.493G>T c.(493-495)GAC>TAC p.D165Y NM_174981 NP_778146 Q86YR6 POTED_HUMAN pote protein 165 plasma membrane ovary(3)|skin(3) 6 CAGGGACACTGACATGAACAA 0.577 NA 18 106 2.48779e-11 3.15264e-11 0.005443 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28296491 28296491 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:28296491C>G uc002ymg.2 - 8 3403 c.2674G>C c.(2674-2676)GAC>CAC p.D892H NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 892 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CAACCTGTGTCACAGGTCCTA 0.542 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 26 73 0 0 0.005443 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31798219 31798219 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:31798219G>T uc002yob.1 - 1 12 c.12C>A c.(10-12)AAC>AAA p.N4K NM_181622 NP_853653 Q3SY46 KR133_HUMAN keratin associated protein 13-3 4 intermediate filament ovary(1)|lung(1) 2 TAGAGCAACAGTTGTAGGACA 0.512 NA 19 91 6.33239e-15 8.64577e-15 0.010504 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253670 32253670 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:32253670C>G uc002yov.2 - 1 205 c.174G>C c.(172-174)GAG>GAC p.E58D NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 58 keratin filament structural molecule activity pancreas(1) 1 CACAGCAGGTCTCTTGACAGT 0.557 NA 28 67 0 0 0.004656 0 0 SON 6651 broad.mit.edu 37 21 34922564 34922564 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:34922564C>T uc002yse.1 + 3 1076 c.1027C>T c.(1027-1029)CCT>TCT p.P343S SON_uc002ysb.1_Missense_Mutation_p.P343S|SON_uc002ysc.2_Missense_Mutation_p.P343S|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 343 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 GCCAGAGCAGCCTGTAGACGT 0.517 NA OREG0003564 type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 49 101 0 0 0.01441 0 0 SON 6651 broad.mit.edu 37 21 34923302 34923302 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:34923302G>T uc002yse.1 + 3 1814 c.1765G>T c.(1765-1767)GTG>TTG p.V589L SON_uc002ysb.1_Missense_Mutation_p.V589L|SON_uc002ysc.2_Missense_Mutation_p.V589L|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 589 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 GGGGCAGCCTGTGGCAACTGG 0.662 NA 21 64 7.41877e-09 8.98813e-09 0.012319 1 0 DOPEY2 9980 broad.mit.edu 37 21 37618548 37618548 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:37618548A>T uc002yvg.2 + 19 4349 c.4270A>T c.(4270-4272)ATT>TTT p.I1424F DOPEY2_uc011aeb.1_Missense_Mutation_p.I1373F|DOPEY2_uc002yvh.2_Missense_Mutation_p.I275F NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1424 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 GGAGAGTCTCATTAACTTGGG 0.612 NA 10 70 0 0 0.001855 0 0 HLCS 3141 broad.mit.edu 37 21 38137445 38137445 + Silent SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:38137445A>G uc010gnb.2 - 8 2749 c.1548T>C c.(1546-1548)CCT>CCC p.P516P HLCS_uc002yvs.2_Silent_p.P516P NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 516 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CACATCCCACAGGGCTCAGCC 0.577 NA 3 73 0 0 0.009096 0 0 ETS2 2114 broad.mit.edu 37 21 40191577 40191577 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:40191577C>T uc002yxg.2 + 8 1158 c.962C>T c.(961-963)TCT>TTT p.S321F ETS2_uc002yxf.2_Missense_Mutation_p.S461F NM_005239 NP_005230 P15036 ETS2_HUMAN v-ets erythroblastosis virus E26 oncogene 321 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1)|pancreas(1) 4 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TGCAGCCAGTCTCTCTGCCTC 0.532 NA 8 29 0 0 0.008291 0 0 COL6A2 1292 broad.mit.edu 37 21 47542430 47542430 + Silent SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:47542430C>G uc002zia.1 + 20 1675 c.1593C>G c.(1591-1593)GGC>GGG p.G531G COL6A2_uc002zhy.1_Silent_p.G531G|COL6A2_uc002zhz.1_Silent_p.G531G|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 531 Triple-helical region. G -> R (in UCMD). axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GCGAGCCCGGCCCACGCGGCC 0.637 NA 8 101 0 0 0.006214 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072057 17072057 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17072057C>G uc002zlp.1 - 1 1644 c.1384G>C c.(1384-1386)GAC>CAC p.D462H NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 462 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GCCATCACGTCTGAGACAGCT 0.527 NA 71 196 0 0 0.01441 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072155 17072155 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17072155C>T uc002zlp.1 - 1 1546 c.1286G>A c.(1285-1287)AGA>AAA p.R429K NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 429 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCCTTCCAATCTGCTTCCTTT 0.488 NA 40 79 0 0 0.011902 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072228 17072228 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17072228C>G uc002zlp.1 - 1 1473 c.1213G>C c.(1213-1215)GAT>CAT p.D405H NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 405 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGTCTGGGATCTTGACATAGC 0.557 NA 34 60 0 0 0.003755 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072351 17072351 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17072351C>G uc002zlp.1 - 1 1350 c.1090G>C c.(1090-1092)GAA>CAA p.E364Q NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 364 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CATTCCCATTCAAATACCACA 0.612 NA 38 116 0 0 0.006999 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072376 17072376 + Silent SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17072376C>G uc002zlp.1 - 1 1325 c.1065G>C c.(1063-1065)CTG>CTC p.L355L NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 355 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AACCATCTCCCAGCTCCTGCC 0.587 NA 40 120 0 0 0.01441 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073279 17073279 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17073279G>T uc002zlp.1 - 1 422 c.162C>A c.(160-162)CAC>CAA p.H54Q NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 54 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TCTGCCGGCCGTGGGGGCCAT 0.637 NA 23 59 2.48779e-11 3.15264e-11 0.005443 1 0 CCT8L2 150160 broad.mit.edu 37 22 17073380 17073380 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17073380C>T uc002zlp.1 - 1 321 c.61G>A c.(61-63)GAG>AAG p.E21K NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 21 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTCGGGCTCTCCCTTGGGTTC 0.657 NA 16 49 0 0 0.010504 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073395 17073395 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17073395C>T uc002zlp.1 - 1 306 c.46G>A c.(46-48)GCA>ACA p.A16T NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 16 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GGGTTCAGTGCCAGCCGCTGG 0.647 NA 20 46 0 0 0.00333 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39445556 39445556 + Silent SNP C C G rs34578066 by1000genomes TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:39445556C>G uc003aww.2 + 5 986 c.693C>G c.(691-693)GTC>GTG p.V231V NM_145298 NP_660341 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 233 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding 0 Melanoma(58;0.04) ACTCACCTGTCTCCTGGAAGA 0.463 NA 30 185 0 0 0.003271 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41615532 41615532 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:41615532A>T uc003azo.2 + 6 764 c.710A>T c.(709-711)CAG>CTG p.Q237L L3MBTL2_uc010gyi.1_Missense_Mutation_p.Q146L|L3MBTL2_uc003azn.2_RNA|uc003azp.1_5'Flank NM_031488 NP_113676 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 237 MBT 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 TCTGTCATCCAGACAGCAGGT 0.552 NA 18 32 0 0 0.014323 0 0 PARVB 29780 broad.mit.edu 37 22 44527413 44527413 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:44527413C>T uc003ben.2 + 5 475 c.423C>T c.(421-423)TCC>TCT p.S141S PARVB_uc003bem.2_Silent_p.S174S|PARVB_uc010gzn.2_Silent_p.S89S|PARVB_uc003beo.2_Silent_p.S104S NM_013327 NP_037459 Q9HBI1 PARVB_HUMAN parvin, beta isoform b 141 CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding 0 Ovarian(80;0.0246)|all_neural(38;0.0423) TGACACAGTCCGAAATAGGGC 0.537 NA 7 50 0 0 0.00308 0 0 PFKFB4 5210 broad.mit.edu 37 3 48573763 48573763 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:48573763G>A uc003ctv.2 - 8 783 c.766C>T c.(766-768)CGG>TGG p.R256W PFKFB4_uc003ctw.2_Missense_Mutation_p.R65W|PFKFB4_uc010hkc.2_Missense_Mutation_p.R256W|PFKFB4_uc003ctx.2_Missense_Mutation_p.R213W|PFKFB4_uc010hkb.2_Missense_Mutation_p.R256W|PFKFB4_uc011bbm.1_Missense_Mutation_p.R245W|PFKFB4_uc011bbn.1_RNA NM_004567 NP_004558 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2, 256 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TCCCCGTGCCGGCAGAGGTAG 0.637 NA 4 291 0 0 0.009096 0 0 DAG1 1605 broad.mit.edu 37 3 49569641 49569641 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:49569641A>G uc003cxc.3 + 3 2115 c.1697A>G c.(1696-1698)GAC>GGC p.D566G NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 566 Peptidase S72. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GGCCTTCCCGACAGCAGCCAC 0.597 NA 13 56 0 0 0.004007 0 0 DOCK3 1795 broad.mit.edu 37 3 51392314 51392314 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:51392314A>G uc011bds.1 + 41 4132 c.4109A>G c.(4108-4110)AAC>AGC p.N1370S NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1370 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTGTGGCAGAACAAAGAATAC 0.512 NA 58 151 0 0 0.01441 0 0 STAB1 23166 broad.mit.edu 37 3 52553536 52553536 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:52553536G>A uc003dej.2 + 50 5265 c.5191G>A c.(5191-5193)GCC>ACC p.A1731T STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1731 Extracellular (Potential).|FAS1 6. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TGTCACCGCCGCCGCCCAGGG 0.602 NA 17 93 0 0 0.008871 0 0 ROBO2 6092 broad.mit.edu 37 3 77595510 77595510 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:77595510G>A uc003dpy.3 + 7 1599 c.956G>A c.(955-957)CGG>CAG p.R319Q ROBO2_uc003dpz.2_Missense_Mutation_p.R323Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R323Q NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 319 Ig-like C2-type 4.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTTGTGGTTCGGCCAAGAGAT 0.398 NA 21 86 0 0 0.008871 0 0 ROBO2 6092 broad.mit.edu 37 3 77612382 77612382 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:77612382G>T uc003dpy.3 + 11 2227 c.1584G>T c.(1582-1584)CCG>CCT p.P528P ROBO2_uc003dpz.2_Silent_p.P532P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.P532P NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 528 Extracellular (Potential).|Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CATCCAAACCGCAGGTCACTG 0.463 NA 14 33 6.31663e-08 7.46818e-08 0.003163 1 0 IMPG2 50939 broad.mit.edu 37 3 100963143 100963143 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:100963143C>A uc003duq.1 - 13 2235 c.2032G>T c.(2032-2034)GAG>TAG p.E678* IMPG2_uc011bhe.1_Nonsense_Mutation_p.E541* NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 678 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GGCTCTTCCTCTGGAAAGTGT 0.448 NA 17 25 9.16793e-09 1.10466e-08 0.00499 1 0 MYH15 22989 broad.mit.edu 37 3 108159970 108159970 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:108159970C>A uc003dxa.1 - 24 2910 c.2853G>T c.(2851-2853)AGG>AGT p.R951S NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 951 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 GTTTCCGCCCCCTGGCAGTCA 0.478 NA 23 94 1.9806e-07 2.3046e-07 0.014323 1 0 ARHGAP31 57514 broad.mit.edu 37 3 119134364 119134364 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:119134364G>T uc003ecj.3 + 12 4120 c.3588G>T c.(3586-3588)CAG>CAT p.Q1196H NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1196 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 AAATGTGCCAGGCCAGGGCGG 0.582 Pancreas(7;176 297 5394 51128 51241) NA 12 78 2.32078e-09 2.83509e-09 0.003163 1 0 POLQ 10721 broad.mit.edu 37 3 121206886 121206886 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:121206886C>G uc003eee.3 - 16 5021 c.4892G>C c.(4891-4893)TGG>TCG p.W1631S POLQ_uc003eed.2_Missense_Mutation_p.W803S NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1631 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TGCCCCTGACCATATGAATGA 0.383 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 50 130 0 0 0.01441 0 0 PARP14 54625 broad.mit.edu 37 3 122420301 122420301 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:122420301T>A uc003efq.3 + 6 2959 c.2900T>A c.(2899-2901)GTT>GAT p.V967D PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.V684D|PARP14_uc003efs.1_Missense_Mutation_p.V684D NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 967 Macro 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) GAGAAGACTGTTGAGGCCTTT 0.488 NA 8 32 0 0 0.004482 0 0 RASA2 5922 broad.mit.edu 37 3 141327427 141327427 + Nonsense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:141327427C>T uc003etz.1 + 21 2113 c.2113C>T c.(2113-2115)CGA>TGA p.R705* RASA2_uc010huq.1_Nonsense_Mutation_p.R709*|RASA2_uc003eua.1_Nonsense_Mutation_p.R706* NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 705 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 CAGGGTGAGCCGATGCAATCA 0.448 NA 6 32 0 0 0.004482 0 0 ZBBX 79740 broad.mit.edu 37 3 167068302 167068302 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:167068302A>T uc003fep.2 - 9 757 c.434T>A c.(433-435)GTA>GAA p.V145E ZBBX_uc011bpc.1_Missense_Mutation_p.V145E|ZBBX_uc003feq.2_Missense_Mutation_p.V116E NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 145 B box-type; atypical. intracellular zinc ion binding ovary(2) 2 TTCAAGGCATACCTAAAAAGa 0.289 NA 16 30 0 0 0.003163 0 0 ZBBX 79740 broad.mit.edu 37 3 167086333 167086333 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:167086333A>T uc003fep.2 - 5 421 c.98T>A c.(97-99)GTA>GAA p.V33E ZBBX_uc011bpc.1_Missense_Mutation_p.V33E|ZBBX_uc003feq.2_Missense_Mutation_p.V4E NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 33 Potential. intracellular zinc ion binding ovary(2) 2 CTCTAACTGTACTTTCTCCAT 0.343 NA 15 22 0 0 0.00499 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|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(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 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 0.353 Colon(199;1504 1750 3362 26421 31210 32040) E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 4 12 0 0 0.001168 0 0 YEATS2 55689 broad.mit.edu 37 3 183432964 183432964 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:183432964A>T uc003fly.2 + 2 209 c.14A>T c.(13-15)AAG>ATG p.K5M NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 5 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 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) TCTGGAATCAAGCGAACCATC 0.378 NA 38 48 0 0 0.006999 0 0 OSTalpha 200931 broad.mit.edu 37 3 195953990 195953990 + Silent SNP G G A rs139345051 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:195953990G>A uc003fwd.2 + 3 489 c.288G>A c.(286-288)ACG>ACA p.T96T OSTalpha_uc011btu.1_Silent_p.T96T|OSTalpha_uc010iac.1_5'Flank|OSTalpha_uc003fwe.2_5'Flank NM_152672 NP_689885 Q86UW1 OSTA_HUMAN organic solute transporter alpha 96 Helical; (Potential). integral to membrane|plasma membrane transporter activity ovary(1) 1 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06) GBM - Glioblastoma multiforme(46;0.00202) CGGCACCCACGGTGAGGCCCC 0.577 NA 21 103 0 0 0.005443 0 0 PDE6B 5158 broad.mit.edu 37 4 647926 647926 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:647926C>A uc003gap.2 + 5 963 c.910C>A c.(910-912)CGC>AGC p.R304S PDE6B_uc003gao.3_Missense_Mutation_p.R304S|PDE6B_uc011buy.1_Missense_Mutation_p.R25S|PDE6B_uc010ibg.2_Missense_Mutation_p.R25S|uc003gaq.1_RNA NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 304 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 CTCGGGCCCACGCACGCCTGA 0.642 GBM(71;463 1194 9848 25922 46834) NA 21 49 8.16277e-20 1.19594e-19 0.006999 1 0 DCAF16 54876 broad.mit.edu 37 4 17805366 17805366 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:17805366C>A uc003gpn.2 - 3 1460 c.399G>T c.(397-399)CGG>CGT p.R133R DCAF16_uc003gpo.2_RNA NM_017741 NP_060211 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 133 CUL4 RING ubiquitin ligase complex ovary(1) 1 CTCTAGAGAGCCGGCTGGGAC 0.502 NA 75 144 1.32764e-51 2.28707e-51 0.01441 1 0 PCDH7 5099 broad.mit.edu 37 4 31144129 31144129 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:31144129G>T uc011bxx.1 + 3 4410 c.3402G>T c.(3400-3402)GGG>GGT p.G1134G PCDH7_uc011bxw.1_Silent_p.G1087G NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor Error:Variant_position_missing_in_O60245_after_alignment homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CCCTGACTGGGAAGTGCACTC 0.512 NA 22 99 1.55469e-16 2.1835e-16 0.00333 1 0 KLB 152831 broad.mit.edu 37 4 39408690 39408691 + Missense_Mutation DNP CT CT AA TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:39408690_39408691CT>AA uc003gua.2 + 1 218_219 c.121_122CT>AA c.(121-123)CTG>AAG p.L41K KLB_uc011byj.1_Missense_Mutation_p.L41K NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 41 Extracellular (Potential). carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 ATCTGTCATCCTGTCAGCACTT 0.416 NA 26 84 0 0 0.004672 0 0 ATP10D 57205 broad.mit.edu 37 4 47556801 47556801 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:47556801G>T uc003gxk.1 + 11 1858 c.1694G>T c.(1693-1695)CGG>CTG p.R565L ATP10D_uc003gxl.1_Intron NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 565 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 ATTACACCTCGGCTCTTTATG 0.388 NA 25 94 7.07758e-08 8.34549e-08 0.004656 1 0 GC 2638 broad.mit.edu 37 4 72631270 72631270 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:72631270C>A uc003hge.2 - 4 505 c.352G>T c.(352-354)GAA>TAA p.E118* GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Nonsense_Mutation_p.E118*|GC_uc010iif.2_Nonsense_Mutation_p.E137* NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 118 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) AGCTTTCGTTCCAGGCCCTCT 0.527 NA 28 75 5.60225e-13 7.41919e-13 0.009535 1 0 HELQ 113510 broad.mit.edu 37 4 84348734 84348734 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:84348734C>A uc003hom.2 - 13 2837 c.2658G>T c.(2656-2658)TGG>TGT p.W886C HELQ_uc010ikb.2_Missense_Mutation_p.W819C|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 886 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 AGTATATCATCCAATCAGGGT 0.338 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 32 77 3.03874e-20 4.48189e-20 0.003271 1 0 CFI 3426 broad.mit.edu 37 4 110687980 110687980 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:110687980C>G uc003hzr.3 - 2 266 c.58G>C c.(58-60)GTC>CTC p.V20L CFI_uc011cft.1_Missense_Mutation_p.V20L|CFI_uc003hzs.3_Missense_Mutation_p.V20L NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 20 complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) GTATAAGTGACCTGTAAAATG 0.388 NA 8 55 0 0 0.006214 0 0 ENPEP 2028 broad.mit.edu 37 4 111430928 111430928 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:111430928G>T uc003iab.3 + 5 1501 c.1159G>T c.(1159-1161)GTG>TTG p.V387L NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 387 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CCAACAGAGGGTGGCCACTGT 0.458 NA 36 58 3.61848e-18 5.17398e-18 0.007835 1 0 ALPK1 80216 broad.mit.edu 37 4 113356422 113356422 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:113356422G>T uc003iap.3 + 12 3432 c.3153G>T c.(3151-3153)TGG>TGT p.W1051C ALPK1_uc003ian.3_Missense_Mutation_p.W1051C|ALPK1_uc011cfx.1_Missense_Mutation_p.W973C|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.W879C NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1051 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) ATGCTTTTTGGGTTCATCATC 0.358 NA 76 142 4.97629e-18 7.05641e-18 0.01441 1 0 FAT4 79633 broad.mit.edu 37 4 126239750 126239750 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:126239750A>G uc003ifj.3 + 1 2184 c.2184A>G c.(2182-2184)ATA>ATG p.I728M NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 728 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AATATAGCATATCTGCTGGGG 0.468 NA 20 92 0 0 0.012319 0 0 LRBA 987 broad.mit.edu 37 4 151773298 151773298 + Silent SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:151773298T>A uc010ipj.2 - 23 4038 c.3564A>T c.(3562-3564)TCA>TCT p.S1188S LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Silent_p.S1188S NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1188 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) GTGACATAGCTGAAGACCCTG 0.398 NA 18 47 0 0 0.010504 0 0 FHDC1 85462 broad.mit.edu 37 4 153864685 153864685 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:153864685C>T uc003inf.2 + 1 551 c.476C>T c.(475-477)TCC>TTC p.S159F NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 159 FH2. actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) TTAAATTCATCCTTCAGAGAA 0.438 NA 21 93 0 0 0.010504 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656177 167656177 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:167656177C>T uc003iri.1 - 12 1347 c.1206G>A c.(1204-1206)GAG>GAA p.E402E SPOCK3_uc011cjp.1_Silent_p.E359E|SPOCK3_uc011cjq.1_Silent_p.E411E|SPOCK3_uc011cjr.1_Silent_p.E282E|SPOCK3_uc003irj.1_Silent_p.E399E|SPOCK3_uc011cjs.1_Silent_p.E351E|SPOCK3_uc011cjt.1_Silent_p.E310E|SPOCK3_uc011cju.1_Silent_p.E295E|SPOCK3_uc011cjv.1_Silent_p.E304E NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 402 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity p.E402*(1) large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) cttcatcatcctcatcatcag 0.09 NA 4 6 0 0 0.000602 0 0 ODZ3 55714 broad.mit.edu 37 4 183676073 183676073 + Missense_Mutation SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:183676073A>C uc003ivd.1 + 21 4590 c.4553A>C c.(4552-4554)GAT>GCT p.D1518A ODZ3_uc003ive.1_Missense_Mutation_p.D931A NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1518 Extracellular (Potential).|YD 1. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TCTCCAACTGATCAAGAACTC 0.378 NA 20 57 0 0 0.010504 0 0 EXOC3 11336 broad.mit.edu 37 5 454086 454086 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:454086G>T uc003jba.2 + 4 1094 c.966G>T c.(964-966)CGG>CGT p.R322R NM_007277 NP_009208 O60645 EXOC3_HUMAN Sec6 protein 333 exocytosis|protein transport 0 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TGAGCACGCGGATGCAGGACC 0.517 NA 6 38 0.000157383 0.000168053 0.00308 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33577084 33577084 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:33577084G>T uc003jia.1 - 19 3210 c.3047C>A c.(3046-3048)CCA>CAA p.P1016Q ADAMTS12_uc010iuq.1_Missense_Mutation_p.P931Q NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1016 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TAGTGTTGGTGGGTTTTTTCC 0.537 NA HNSCC(64;0.19) 31 158 4.02929e-09 4.89508e-09 0.010818 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33683976 33683976 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:33683976G>T uc003jia.1 - 4 982 c.819C>A c.(817-819)ACC>ACA p.T273T ADAMTS12_uc010iuq.1_Silent_p.T273T NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 273 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGTTCATGATGGTGAGGATGT 0.463 NA HNSCC(64;0.19) 25 59 1.04121e-07 1.22121e-07 0.005443 1 0 HEATR7B2 133558 broad.mit.edu 37 5 41004553 41004553 + Silent SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:41004553A>G uc003jmj.3 - 37 4579 c.4089T>C c.(4087-4089)TGT>TGC p.C1363C HEATR7B2_uc003jmi.3_Silent_p.C918C NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1363 HEAT 15. binding ovary(6)|central_nervous_system(2) 8 TCAAGCTTTCACAGACGACTT 0.423 NA 32 91 0 0 0.012213 0 0 ITGA2 3673 broad.mit.edu 37 5 52360751 52360751 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:52360751G>T uc003joy.2 + 14 1755 c.1612G>T c.(1612-1614)GGT>TGT p.G538C ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.G462C|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 538 FG-GAP 5.|Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GGGCATTTTGGGTCAGCACCA 0.358 NA 21 47 1.50039e-11 1.92347e-11 0.012319 1 0 FST 10468 broad.mit.edu 37 5 52778792 52778792 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:52778792C>A uc003jpd.2 + 2 195 c.168C>A c.(166-168)TGC>TGA p.C56* FST_uc003jpc.2_Nonsense_Mutation_p.C56* NM_013409 NP_037541 P19883 FST_HUMAN follistatin isoform FST344 precursor 56 TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity 0 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) AGGAGTGCTGCAGCACCGGCC 0.597 NA OREG0016608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 43 3.1745e-13 4.22946e-13 0.008361 1 0 SKIV2L2 23517 broad.mit.edu 37 5 54654435 54654435 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:54654435G>C uc003jpy.3 + 15 1834 c.1568G>C c.(1567-1569)CGT>CCT p.R523P SKIV2L2_uc011cqi.1_Missense_Mutation_p.R422P NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 523 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) ATGTCTGGTCGTGCTGGAAGG 0.323 Melanoma(2;92 134 23744 29976 33782) NA 4 39 0 0 0.00308 0 0 SV2C 22987 broad.mit.edu 37 5 75427939 75427939 + Nonsense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:75427939G>T uc003kei.1 + 2 498 c.364G>T c.(364-366)GAG>TAG p.E122* NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 122 Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GGACCGGCGGGAGCTGGAATC 0.547 NA 19 35 3.62473e-10 4.52835e-10 0.012319 1 0 THBS4 7060 broad.mit.edu 37 5 79375018 79375018 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:79375018G>A uc003kgh.2 + 20 2771 c.2448G>A c.(2446-2448)ACG>ACA p.T816T uc003kgi.3_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 816 TSP C-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity 0 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GGAAGCAGACGGAGCAGACAT 0.488 NA 10 66 0 0 0.00245 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176000 140176000 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:140176000C>A uc003lhd.2 + 1 1557 c.1451C>A c.(1450-1452)GCG>GAG p.A484E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A484E|PCDHA2_uc011czy.1_Missense_Mutation_p.A484E NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 484 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATGCGGACGCGCAGGAGAAC 0.657 NA 34 99 1.21353e-23 1.84541e-23 0.01441 1 0 PCDHA12 56137 broad.mit.edu 37 5 140256796 140256796 + Nonsense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:140256796T>A uc003lic.2 + 1 1866 c.1739T>A c.(1738-1740)TTG>TAG p.L580* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Nonsense_Mutation_p.L580* NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 580 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTAGCGAGTTGGTACCGCGG 0.662 Pancreas(113;759 1672 13322 24104 50104) NA 49 107 0 0 0.01441 0 0 PCDHB16 57717 broad.mit.edu 37 5 140564342 140564342 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:140564342G>T uc003liv.2 + 1 3363 c.2208G>T c.(2206-2208)CTG>CTT p.L736L PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 736 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGGGCGTCTGGTGGACGTAA 0.632 NA 38 160 2.40579e-17 3.40049e-17 0.00623 1 0 PCDHGA10 56106 broad.mit.edu 37 5 140793377 140793377 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:140793377A>G uc003lkl.1 + 1 635 c.635A>G c.(634-636)CAC>CGC p.H212R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.H212R NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 212 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGCCATTCACCACCTGGTC 0.582 NA 30 65 0 0 0.012213 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140797646 140797646 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:140797646C>A uc003lkn.1 + 1 365 c.220C>A c.(220-222)CAC>AAC p.H74N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.H74N|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 74 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAAGCTGCACTTCAGCGT 0.562 NA 37 88 3.62531e-18 5.17398e-18 0.004289 1 0 FBXO38 81545 broad.mit.edu 37 5 147796641 147796641 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:147796641G>T uc003lpf.1 + 12 1612 c.1492G>T c.(1492-1494)GAT>TAT p.D498Y FBXO38_uc003lpg.1_Missense_Mutation_p.D498Y|FBXO38_uc003lph.2_Missense_Mutation_p.D498Y NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 498 D -> E (in Ref. 1; AAH33454). cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACAATGACGATAATAATGC 0.463 NA 8 25 3.09899e-07 3.54975e-07 0.004482 1 0 CSF1R 1436 broad.mit.edu 37 5 149435795 149435795 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:149435795A>G uc003lrl.2 - 17 2624 c.2429T>C c.(2428-2430)ATT>ACT p.I810T CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.I810T NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 810 Protein kinase.|Cytoplasmic (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GCCCTTGACAATGTAGTTGGA 0.592 NA 78 113 0 0 0.01441 0 0 ODZ2 57451 broad.mit.edu 37 5 167674480 167674480 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:167674480A>G uc010jjd.2 + 27 6509 c.6509A>G c.(6508-6510)TAT>TGT p.Y2170C ODZ2_uc003lzr.3_Missense_Mutation_p.Y1940C|ODZ2_uc003lzt.3_Missense_Mutation_p.Y1543C|ODZ2_uc010jje.2_Missense_Mutation_p.Y1434C NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ACGGTGCAATATGACAGCATG 0.552 NA 24 71 0 0 0.005443 0 0 NSD1 64324 broad.mit.edu 37 5 176665401 176665401 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:176665401G>C uc003mfr.3 + 7 4223 c.4085G>C c.(4084-4086)GGA>GCA p.G1362A NSD1_uc003mft.3_Missense_Mutation_p.G1093A|NSD1_uc003mfs.1_Missense_Mutation_p.G1259A|NSD1_uc011dfx.1_Missense_Mutation_p.G1010A NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1362 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TCAGAACTTGGAGGTGGACAT 0.532 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 3 148 0 0 0.004672 0 0 CANX 821 broad.mit.edu 37 5 179149988 179149988 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:179149988G>T uc003mkk.2 + 11 1543 c.1366G>T c.(1366-1368)GGC>TGC p.G456C CANX_uc011dgp.1_Missense_Mutation_p.G491C|CANX_uc003mkl.2_Missense_Mutation_p.G456C|CANX_uc011dgq.1_Missense_Mutation_p.G348C NM_001746 NP_001737 P27824 CALX_HUMAN calnexin precursor 456 Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding 0 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) TGATGGATGGGGCCTGAAGAA 0.438 NA 22 129 2.48779e-11 3.15264e-11 0.005443 1 0 GABBR1 2550 broad.mit.edu 37 6 29574725 29574725 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:29574725G>A uc003nmt.3 - 18 2502 c.2166C>T c.(2164-2166)GTC>GTT p.V722V GABBR1_uc003nmp.3_Silent_p.V605V|GABBR1_uc003nms.3_Silent_p.V605V|GABBR1_uc003nmu.3_Silent_p.V660V|GABBR1_uc011dlr.1_Silent_p.V545V NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 722 Helical; Name=4; (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) CGAGAGTGAGGACATCCATGC 0.572 NA 35 94 0 0 0.005524 0 0 SLC44A4 80736 broad.mit.edu 37 6 31843659 31843659 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:31843659G>A uc010jti.2 - 4 278 c.212C>T c.(211-213)ACT>ATT p.T71I SLC44A4_uc011dol.1_5'UTR|SLC44A4_uc011dom.1_Missense_Mutation_p.T71I NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 71 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) GTAGGCCCCAGTAGAGTTCCT 0.602 NA 143 296 0 0 0.01441 0 0 KCNK17 89822 broad.mit.edu 37 6 39278775 39278775 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:39278775G>A uc003ooo.2 - 2 386 c.246C>T c.(244-246)GTC>GTT p.V82V KCNK17_uc003oop.2_Silent_p.V82V NM_031460 NP_113648 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 82 integral to membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 TGTATGCTTGGACGACATCCT 0.493 NA 43 122 0 0 0.010771 0 0 KIF6 221458 broad.mit.edu 37 6 39330242 39330242 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:39330242C>A uc003oot.2 - 17 2009 c.1914G>T c.(1912-1914)AAG>AAT p.K638N KIF6_uc003oos.2_Missense_Mutation_p.K89N|KIF6_uc010jwz.1_Missense_Mutation_p.K13N|KIF6_uc010jxa.1_Missense_Mutation_p.K429N|KIF6_uc011dua.1_Missense_Mutation_p.K621N|KIF6_uc010jxb.1_Missense_Mutation_p.K582N NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 638 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 GTGATCGCAGCTTCTCCTCCT 0.547 NA OREG0017415 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 224 6.27289e-28 9.95088e-28 0.01441 1 0 TINAG 27283 broad.mit.edu 37 6 54191689 54191689 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:54191689T>A uc003pcj.2 + 4 745 c.599T>A c.(598-600)ATG>AAG p.M200K TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 200 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CCTAGTCCCATGCTCCTGAGC 0.393 NA 39 67 0 0 0.009718 0 0 BAI3 577 broad.mit.edu 37 6 69348714 69348714 + Silent SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:69348714T>A uc003pev.3 + 3 595 c.147T>A c.(145-147)CCT>CCA p.P49P BAI3_uc010kak.2_Silent_p.P49P NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 49 CUB.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AAATGTTTCCTAAAAACTTTA 0.383 NA 53 63 0 0 0.01441 0 0 COL12A1 1303 broad.mit.edu 37 6 75844451 75844451 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:75844451C>A uc003phs.2 - 32 5681 c.5515G>T c.(5515-5517)GGC>TGC p.G1839C COL12A1_uc003pht.2_Missense_Mutation_p.G675C NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1839 Fibronectin type-III 13. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CTGGTCTTGCCTCTTCCCGTC 0.453 NA 33 59 1.62565e-12 2.14003e-12 0.012213 1 0 MDN1 23195 broad.mit.edu 37 6 90503894 90503894 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:90503894C>G uc003pnn.1 - 4 703 c.587G>C c.(586-588)TGT>TCT p.C196S MDN1_uc003pnp.1_Missense_Mutation_p.C196S NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 196 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTCATTCATACAGGTAACCAA 0.338 NA 23 44 0 0 0.00632 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90576192 90576192 + Silent SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:90576192A>G uc003pnr.2 + 8 3379 c.3183A>G c.(3181-3183)TCA>TCG p.S1061S CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.S1061S|CASP8AP2_uc011dzz.1_Silent_p.S1061S NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1061 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CAAAATTTTCATTAATACAAT 0.289 Colon(187;1656 2025 17045 31481 39901) NA 3 1 0 0 0.004672 0 0 POPDC3 64208 broad.mit.edu 37 6 105609367 105609367 + Missense_Mutation SNP T T G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:105609367T>G uc003prb.2 - 2 820 c.418A>C c.(418-420)AAG>CAG p.K140Q uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 140 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) CAGTGTTCCTTTTCCAAAGTA 0.453 NA 54 145 0 0 0.01441 0 0 LAMA2 3908 broad.mit.edu 37 6 129649532 129649532 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:129649532G>T uc003qbn.2 + 29 4391 c.4286G>T c.(4285-4287)TGT>TTT p.C1429F LAMA2_uc003qbo.2_Missense_Mutation_p.C1429F NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1429 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 ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGCAGCCTGTGTGACCCTGAA 0.532 NA 61 125 1.02016e-41 1.71713e-41 0.01441 1 0 UTRN 7402 broad.mit.edu 37 6 144844318 144844318 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:144844318G>T uc003qkt.2 + 40 5992 c.5900G>T c.(5899-5901)CGG>CTG p.R1967L NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1967 Spectrin 13. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TACAGTGATCGGAAAGGGTAT 0.378 NA 23 32 4.26978e-12 5.57092e-12 0.00333 1 0 GRM1 2911 broad.mit.edu 37 6 146720730 146720730 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:146720730C>A uc010khw.1 + 8 3025 c.2555C>A c.(2554-2556)ACC>AAC p.T852N GRM1_uc010khv.1_Missense_Mutation_p.T852N|GRM1_uc003qll.2_Missense_Mutation_p.T852N|GRM1_uc011edz.1_Missense_Mutation_p.T852N|GRM1_uc011eea.1_Missense_Mutation_p.T852N NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 852 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GCCTTCACCACCTCTGATGTT 0.532 NA 18 54 6.94344e-10 8.57719e-10 0.006122 1 0 PLG 5340 broad.mit.edu 37 6 161135878 161135878 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:161135878C>A uc003qtm.3 + 6 663 c.600C>A c.(598-600)ACC>ACA p.T200T NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 200 Kringle 2. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TTTCCAAGACCATGTCTGGAC 0.463 NA 26 45 1.06801e-11 1.38121e-11 0.009535 1 0 TTLL2 83887 broad.mit.edu 37 6 167753913 167753913 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:167753913C>A uc003qvs.1 + 3 613 c.525C>A c.(523-525)TAC>TAA p.Y175* TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 175 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 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) CTTCCCTGTACCAGTTCATCC 0.507 NA 48 102 2.64894e-19 3.86816e-19 0.01441 1 0 THBS2 7058 broad.mit.edu 37 6 169648860 169648860 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:169648860C>A uc003qwt.2 - 4 509 c.261G>T c.(259-261)ACG>ACT p.T87T NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 87 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TGAGCTGGGCCGTGAGGAAGA 0.617 Esophageal Squamous(91;219 1934 18562 44706) NA 40 134 4.00102e-26 6.19105e-26 0.00623 1 0 ANLN 54443 broad.mit.edu 37 7 36483457 36483457 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:36483457G>A uc003tff.2 + 22 3268 c.3064G>A c.(3064-3066)GAT>AAT p.D1022N ANLN_uc011kaz.1_Missense_Mutation_p.D934N|ANLN_uc003tfg.2_Missense_Mutation_p.D985N|ANLN_uc010kxe.2_Missense_Mutation_p.D984N NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 1022 PH.|Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 TTATCCAGATGATGAGAAACG 0.408 NA 11 13 0 0 0.010729 0 0 PCLO 27445 broad.mit.edu 37 7 82764745 82764745 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:82764745C>T uc003uhx.2 - 3 2410 c.2121G>A c.(2119-2121)GTG>GTA p.V707V PCLO_uc003uhv.2_Silent_p.V707V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 653 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTGGTTGTTTCACTAGTGGTG 0.542 NA 15 78 0 0 0.007413 0 0 C7orf64 84060 broad.mit.edu 37 7 92164123 92164123 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:92164123A>G uc003ulz.2 + 4 897 c.856A>G c.(856-858)AGA>GGA p.R286G C7orf64_uc003uma.2_Missense_Mutation_p.R286G NM_032120 NP_115496 Q5RL73 CG064_HUMAN hypothetical protein LOC84060 286 nucleotide binding ovary(2) 2 GGAGCGCAAAAGAAGAAGAGA 0.428 NA 15 19 0 0 0.004007 0 0 SERPINE1 5054 broad.mit.edu 37 7 100771819 100771819 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:100771819G>T uc003uxt.2 + 2 293 c.145G>T c.(145-147)GCC>TCC p.A49S SERPINE1_uc011kkj.1_Missense_Mutation_p.A34S|SERPINE1_uc003uxu.1_5'Flank NM_000602 NP_000593 P05121 PAI1_HUMAN plasminogen activator inhibitor-1 isoform 1 49 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GGTGGCGCAGGCCTCCAAGGA 0.602 NA 31 49 2.08457e-15 2.85495e-15 0.010818 1 0 RELN 5649 broad.mit.edu 37 7 103126853 103126853 + Nonsense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:103126853G>T uc003vca.2 - 61 9934 c.9774C>A c.(9772-9774)TGC>TGA p.C3258* RELN_uc010liz.2_Nonsense_Mutation_p.C3258* NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3258 EGF-like 8. 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 ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGAAAACAGAGCAGTCATCAC 0.423 NSCLC(146;835 1944 15585 22231 52158) NA 41 35 3.54561e-26 5.50568e-26 0.009718 1 0 GPR22 2845 broad.mit.edu 37 7 107115753 107115753 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:107115753T>A uc003vef.2 + 3 2594 c.1248T>A c.(1246-1248)TTT>TTA p.F416L COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron NM_005295 NP_005286 Q99680 GPR22_HUMAN G protein-coupled receptor 22 416 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 AAATTACCTTTGAAGATAGTG 0.338 NA 7 5 0 0 0.00308 0 0 PLXNA4 91584 broad.mit.edu 37 7 131888169 131888169 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:131888169C>A uc003vra.3 - 11 2537 c.2308G>T c.(2308-2310)GAA>TAA p.E770* NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 770 Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TCCATCCCTTCATAGGAATAC 0.522 NA 4 138 0.00909568 0.0093939 0.009096 1 0 DENND2A 27147 broad.mit.edu 37 7 140301877 140301877 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:140301877C>T uc010lnj.2 - 1 466 c.321G>A c.(319-321)GAG>GAA p.E107E DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.E107E|DENND2A_uc003vvw.2_Silent_p.E107E|DENND2A_uc003vvx.2_Silent_p.E107E NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 107 ovary(3)|breast(1) 4 Melanoma(164;0.00956) TCCTCTCCTTCTCTGTGCTCT 0.577 NA 157 153 0 0 0.01441 0 0 BRAF 673 broad.mit.edu 37 7 140434413 140434413 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:140434413G>T uc003vwc.3 - 18 2346 c.2285C>A c.(2284-2286)GCG>GAG p.A762E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 762 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) GACAGGAAACGCACCATATCC 0.403 Colon(40;35 892 2973 5743 27438) 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 183 189 2.13639e-87 3.75358e-87 0.01441 1 0 GIMAP2 26157 broad.mit.edu 37 7 150389570 150389570 + Nonsense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:150389570G>T uc003who.2 + 3 284 c.196G>T c.(196-198)GGA>TGA p.G66* GIMAP1_uc003whp.2_Intron NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 66 integral to membrane GTP binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAAAAGTCAGGGAAGCTGGGG 0.368 NA 44 21 6.21074e-16 8.58601e-16 0.011902 1 0 MLL3 58508 broad.mit.edu 37 7 151962157 151962157 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:151962157G>C uc003wla.2 - 8 1369 c.1150C>G c.(1150-1152)CAA>GAA p.Q384E NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 384 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCAGGACATTGCCAACCTGCA 0.428 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 18 288 0 0 0.00632 0 0 PTPRN2 5799 broad.mit.edu 37 7 157414082 157414082 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:157414082G>T uc003wno.2 - 15 2437 c.2316C>A c.(2314-2316)CCC>CCA p.P772P PTPRN2_uc003wnp.2_Silent_p.P755P|PTPRN2_uc003wnq.2_Silent_p.P743P|PTPRN2_uc003wnr.2_Silent_p.P734P|PTPRN2_uc011kwa.1_Silent_p.P795P NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 772 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGCGGTTCTTGGGCACGTTCT 0.637 NA 8 537 1.58986e-06 1.79317e-06 0.008291 1 0 DLGAP2 9228 broad.mit.edu 37 8 1497520 1497520 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:1497520G>T uc003wpl.2 + 2 758 c.661G>T c.(661-663)GAC>TAC p.D221Y DLGAP2_uc003wpm.2_Missense_Mutation_p.D221Y NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 300 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GAGCTCGGACGACAACCTGGA 0.697 NA 36 68 6.68952e-21 9.93292e-21 0.013114 1 0 RP1L1 94137 broad.mit.edu 37 8 10470214 10470214 + Nonsense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:10470214G>T uc003wtc.2 - 4 1623 c.1394C>A c.(1393-1395)TCG>TAG p.S465* NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 465 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CTCTGGCTCCGAGCCCTCGGG 0.716 NA 13 67 8.10497e-08 9.53145e-08 0.010504 1 0 C8orf74 203076 broad.mit.edu 37 8 10555360 10555360 + Nonsense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:10555360G>T uc003wtd.1 + 3 522 c.493G>T c.(493-495)GAG>TAG p.E165* C8orf74_uc003wte.1_RNA NM_001040032 NP_001035121 Q6P047 CH074_HUMAN hypothetical protein LOC203076 165 0 COAD - Colon adenocarcinoma(149;0.0811) GTGGATCCACGAGCAGCAGGT 0.677 NA 26 45 3.1745e-13 4.22946e-13 0.008361 1 0 TEX15 56154 broad.mit.edu 37 8 30704102 30704102 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:30704102T>A uc003xil.2 - 1 2432 c.2432A>T c.(2431-2433)AAT>ATT p.N811I NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 811 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATCTTCCTTATTTATTTCCGG 0.368 NA 4 25 0 0 0.004482 0 0 ADAM9 8754 broad.mit.edu 37 8 38884248 38884248 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:38884248G>T uc003xmr.2 + 11 1127 c.1049G>T c.(1048-1050)GGT>GTT p.G350V ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 350 Extracellular (Potential).|Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) CATGAATTGGGTCATAATCTT 0.423 NA 49 102 3.76525e-18 5.35637e-18 0.01441 1 0 ADAM2 2515 broad.mit.edu 37 8 39624713 39624713 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:39624713C>A uc003xnj.2 - 13 1345 c.1270G>T c.(1270-1272)GGT>TGT p.G424C ADAM2_uc003xnk.2_Missense_Mutation_p.G405C|ADAM2_uc011lck.1_Missense_Mutation_p.G424C|ADAM2_uc003xnl.2_Missense_Mutation_p.G298C NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 424 Extracellular (Potential).|Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CAGTTTGAACCGGCTTTAAAT 0.358 NA 65 161 5.96624e-29 9.53302e-29 0.01441 1 0 TRPA1 8989 broad.mit.edu 37 8 72984007 72984007 + Nonsense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:72984007A>T uc003xza.2 - 2 382 c.207T>A c.(205-207)TAT>TAA p.Y69* NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 69 Cytoplasmic (Potential).|ANK 1. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CTGCTGCAGCATAATGCAAGA 0.353 NA 8 28 0 0 0.004482 0 0 FAM82B 51115 broad.mit.edu 37 8 87498776 87498776 + Nonsense_Mutation SNP A A T rs144513651 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:87498776A>T uc003ydu.2 - 4 592 c.432T>A c.(430-432)TAT>TAA p.Y144* FAM82B_uc011lfz.1_Nonsense_Mutation_p.Y144*|FAM82B_uc011lga.1_Nonsense_Mutation_p.Y144* NM_016033 NP_057117 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 144 microtubule|spindle pole binding ovary(1) 1 CTAGGGCTTCATACACCAATA 0.413 NA 27 36 0 0 0.008361 0 0 PGCP 10404 broad.mit.edu 37 8 97797349 97797349 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:97797349G>T uc003yhw.2 + 2 390 c.224G>T c.(223-225)GGA>GTA p.G75V PGCP_uc010mbe.2_Missense_Mutation_p.G75V NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 75 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) GATACTGTTGGACCCAGACTG 0.468 NA 12 64 2.27111e-07 2.62188e-07 0.013537 1 0 NIPAL2 79815 broad.mit.edu 37 8 99264759 99264759 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:99264759C>A uc003yil.1 - 3 564 c.308G>T c.(307-309)GGG>GTG p.G103V NIPAL2_uc011lgw.1_5'Flank|NIPAL2_uc003yim.1_Missense_Mutation_p.G103V NM_024759 NP_079035 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 103 Helical; (Potential). integral to membrane 0 TGCAAAGTTCCCCGTCTCTCC 0.502 NA 6 34 1.12685e-05 1.24547e-05 0.004482 1 0 RIMS2 9699 broad.mit.edu 37 8 104955095 104955095 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:104955095C>A uc003yls.2 + 12 2217 c.1976C>A c.(1975-1977)CCT>CAT p.P659H RIMS2_uc003ylp.2_Missense_Mutation_p.P881H|RIMS2_uc003ylw.2_Missense_Mutation_p.P673H|RIMS2_uc003ylq.2_Missense_Mutation_p.P673H|RIMS2_uc003ylr.2_Missense_Mutation_p.P720H|RIMS2_uc003ylt.2_Missense_Mutation_p.P266H NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 943 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTTCCCCACCCTTCTCCATAT 0.373 NA HNSCC(12;0.0054) 19 20 2.21704e-12 2.90986e-12 0.00278 1 0 ANGPT1 284 broad.mit.edu 37 8 108264099 108264099 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:108264099C>T uc003ymn.2 - 9 1949 c.1481G>A c.(1480-1482)CGA>CAA p.R494Q ANGPT1_uc011lhv.1_Missense_Mutation_p.R294Q|ANGPT1_uc003ymo.2_Missense_Mutation_p.R493Q NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 494 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) ATCTAAAGGTCGAATCATCAT 0.413 NA 14 79 0 0 0.00245 0 0 CSMD3 114788 broad.mit.edu 37 8 113314033 113314033 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:113314033G>T uc003ynu.2 - 53 8588 c.8429C>A c.(8428-8430)ACC>AAC p.T2810N CSMD3_uc003yns.2_Missense_Mutation_p.T2012N|CSMD3_uc003ynt.2_Missense_Mutation_p.T2770N|CSMD3_uc011lhx.1_Missense_Mutation_p.T2641N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2810 Extracellular (Potential).|Sushi 17. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TAGGCATCTGGTTTCAGATTC 0.438 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 42 1.49906e-05 1.64859e-05 0.00245 1 0 CSMD3 114788 broad.mit.edu 37 8 113702259 113702259 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:113702259C>G uc003ynu.2 - 14 2152 c.1993G>C c.(1993-1995)GGT>CGT p.G665R CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.G625R|CSMD3_uc011lhx.1_Missense_Mutation_p.G561R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 665 Extracellular (Potential).|Sushi 3. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCAGGATCACCACAACTTTCT 0.363 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 60 0 0 0.006999 0 0 CSMD3 114788 broad.mit.edu 37 8 113988072 113988072 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:113988072G>T uc003ynu.2 - 7 1495 c.1336C>A c.(1336-1338)CAT>AAT p.H446N CSMD3_uc003ynt.2_Missense_Mutation_p.H406N|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 446 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATACCTCTATGAGTAACAACT 0.403 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 43 3.28513e-13 4.36368e-13 0.003954 1 0 RAD21 5885 broad.mit.edu 37 8 117868465 117868465 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:117868465G>C uc003yod.2 - 8 1165 c.877C>G c.(877-879)CAA>GAA p.Q293E NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 293 Interaction with WAPAL and PDS5B. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) AGTGTTGTTTGATCAGTCATG 0.363 NA 3 73 0 0 0.004672 0 0 NOV 4856 broad.mit.edu 37 8 120431528 120431528 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:120431528G>T uc003yoq.2 + 4 941 c.720G>T c.(718-720)CAG>CAT p.Q240H NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 240 TSP type-1. regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGCTGAAACAGACTCGGCTCT 0.547 NA 51 151 1.27334e-21 1.90353e-21 0.01441 1 0 SMARCA2 6595 broad.mit.edu 37 9 2101582 2101582 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:2101582G>C uc003zhc.2 + 22 3190 c.3091G>C c.(3091-3093)GAA>CAA p.E1031Q SMARCA2_uc003zhd.2_Missense_Mutation_p.E1031Q|SMARCA2_uc010mha.2_Missense_Mutation_p.E964Q NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1031 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATCCTTTGCTGAACACCTAGG 0.299 NA 5 28 0 0 0.001984 0 0 RFX3 5991 broad.mit.edu 37 9 3263012 3263012 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:3263012G>C uc003zhr.2 - 14 1840 c.1528C>G c.(1528-1530)CGT>GGT p.R510G RFX3_uc010mhd.2_Missense_Mutation_p.R510G|RFX3_uc003zhs.1_Missense_Mutation_p.R510G NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 510 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) AGCACTGCACGAGCTGCCTGG 0.493 NA 38 61 0 0 0.006999 0 0 PTPRD 5789 broad.mit.edu 37 9 8484300 8484300 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:8484300C>G uc003zkk.2 - 29 3943 c.3232G>C c.(3232-3234)GAG>CAG p.E1078Q PTPRD_uc003zkp.2_Missense_Mutation_p.E667Q|PTPRD_uc003zkq.2_Missense_Mutation_p.E667Q|PTPRD_uc003zkr.2_Missense_Mutation_p.E662Q|PTPRD_uc003zks.2_Missense_Mutation_p.E657Q|PTPRD_uc003zkl.2_Missense_Mutation_p.E1069Q|PTPRD_uc003zkm.2_Missense_Mutation_p.E1065Q|PTPRD_uc003zkn.2_Missense_Mutation_p.E667Q|PTPRD_uc003zko.2_Missense_Mutation_p.E664Q NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1078 Fibronectin type-III 8.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 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) TATGATTTCTCAGGCTTCAGG 0.428 NA TSP Lung(15;0.13) 3 65 0 0 0.004672 0 0 MPDZ 8777 broad.mit.edu 37 9 13188859 13188859 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:13188859C>A uc010mia.1 - 16 2345 c.2288G>T c.(2287-2289)AGT>ATT p.S763I MPDZ_uc010mhy.2_Missense_Mutation_p.S763I|MPDZ_uc010mhz.2_Missense_Mutation_p.S763I|MPDZ_uc011lmn.1_Missense_Mutation_p.S763I|MPDZ_uc003zlb.3_Missense_Mutation_p.S763I NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 763 PDZ 5. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TTCCTCAAGACTGCTGTTTTC 0.463 NA 67 205 1.31311e-47 2.2445e-47 0.01441 1 0 C9orf93 203238 broad.mit.edu 37 9 15784550 15784550 + Missense_Mutation SNP T T G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:15784550T>G uc003zmd.2 + 21 3440 c.3125T>G c.(3124-3126)CTA>CGA p.L1042R C9orf93_uc003zme.2_Missense_Mutation_p.L957R|C9orf93_uc011lmu.1_Missense_Mutation_p.L1050R|C9orf93_uc003zmf.1_Missense_Mutation_p.L350R NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 1042 Potential. 0 GBM - Glioblastoma multiforme(50;4.84e-07) TGTGAAGAACTAAATAATGCA 0.373 NA 5 22 0 0 0.000602 0 0 BNC2 54796 broad.mit.edu 37 9 16436214 16436214 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:16436214G>T uc003zml.2 - 6 2118 c.1978C>A c.(1978-1980)CCC>ACC p.P660T BNC2_uc011lmw.1_Missense_Mutation_p.P565T|BNC2_uc003zmm.2_Missense_Mutation_p.P618T|BNC2_uc003zmq.1_Missense_Mutation_p.P674T|BNC2_uc003zmr.1_Missense_Mutation_p.P697T|BNC2_uc003zmp.1_Missense_Mutation_p.P688T|BNC2_uc010mij.1_Missense_Mutation_p.P582T|BNC2_uc011lmv.1_Missense_Mutation_p.P486T|BNC2_uc003zmo.1_Missense_Mutation_p.P582T|BNC2_uc003zmj.2_Missense_Mutation_p.P425T|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.P425T|BNC2_uc003zmn.1_Missense_Mutation_p.P425T NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) CCATCATTGGGGTCATCATCT 0.468 NA 11 76 0.00010058 0.000108185 0.013537 1 0 ARID3C 138715 broad.mit.edu 37 9 34627853 34627853 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:34627853C>A uc011lon.1 - 1 159 c.159G>T c.(157-159)GAG>GAT p.E53D NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT- like) 53 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) cagcatcttcctcttcctcAG 0.458 NA 9 9 0.00621372 0.00649348 0.006214 1 0 LOC442421 442421 broad.mit.edu 37 9 66499680 66499680 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:66499680C>A uc004aee.1 + 1 490 c.490C>A c.(490-492)CCC>ACC p.P164T LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 TCATGTTAACCCCTTCCCAGG 0.582 NA 11 65 6.40141e-05 6.93617e-05 0.010729 1 0 TRPM3 80036 broad.mit.edu 37 9 73151524 73151524 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:73151524G>T uc004aid.2 - 25 4713 c.4469C>A c.(4468-4470)CCT>CAT p.P1490H TRPM3_uc004ahu.2_Missense_Mutation_p.P1332H|TRPM3_uc004ahv.2_Missense_Mutation_p.P1292H|TRPM3_uc004ahw.2_Missense_Mutation_p.P1362H|TRPM3_uc004ahx.2_Missense_Mutation_p.P1349H|TRPM3_uc004ahy.2_Missense_Mutation_p.P1352H|TRPM3_uc004ahz.2_Missense_Mutation_p.P1339H|TRPM3_uc004aia.2_Missense_Mutation_p.P1337H|TRPM3_uc004aib.2_Missense_Mutation_p.P1327H|TRPM3_uc004aic.2_Intron NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1515 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GTACATCGGAGGCTCTGAGTC 0.493 NA 40 64 8.01111e-26 1.23528e-25 0.010771 1 0 TRPM3 80036 broad.mit.edu 37 9 73218374 73218374 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:73218374C>A uc004aid.2 - 19 2888 c.2644G>T c.(2644-2646)GGA>TGA p.G882* TRPM3_uc004ahu.2_Nonsense_Mutation_p.G712*|TRPM3_uc004ahv.2_Nonsense_Mutation_p.G684*|TRPM3_uc004ahw.2_Nonsense_Mutation_p.G754*|TRPM3_uc004ahx.2_Nonsense_Mutation_p.G741*|TRPM3_uc004ahy.2_Nonsense_Mutation_p.G744*|TRPM3_uc004ahz.2_Nonsense_Mutation_p.G731*|TRPM3_uc004aia.2_Nonsense_Mutation_p.G729*|TRPM3_uc004aib.2_Nonsense_Mutation_p.G719*|TRPM3_uc004aic.2_Nonsense_Mutation_p.G882* NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 907 Helical; (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 ATCAGGTATCCGATATACGCC 0.522 NA 26 38 3.73148e-12 4.88303e-12 0.007291 1 0 TMEM2 23670 broad.mit.edu 37 9 74313084 74313084 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:74313084C>A uc011lsa.1 - 20 3954 c.3414G>T c.(3412-3414)AGG>AGT p.R1138S TMEM2_uc011lrz.1_Missense_Mutation_p.R131S|TMEM2_uc010mos.2_Missense_Mutation_p.R1075S|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_5'UTR NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 1138 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGTGGCCATGCCTGTGGCTTT 0.418 NA 56 94 1.64573e-32 2.66827e-32 0.01441 1 0 GCNT1 2650 broad.mit.edu 37 9 79118029 79118029 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:79118029G>T uc010mpf.2 + 3 1073 c.732G>T c.(730-732)ACG>ACT p.T244T GCNT1_uc010mpg.2_Silent_p.T244T|GCNT1_uc010mph.2_Silent_p.T244T|GCNT1_uc004akf.3_Silent_p.T244T|GCNT1_uc010mpi.2_Silent_p.T244T|GCNT1_uc004akh.3_Silent_p.T244T NM_001490 NP_001481 Q02742 GCNT1_HUMAN beta-1,3-galactosyl-O-glycosyl-glycoprotein 244 Lumenal (Potential).|Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity 0 ACCTGGAAACGGAGAGGATGC 0.418 NA 11 76 1.08611e-07 1.26713e-07 0.010729 1 0 HNRNPK 3190 broad.mit.edu 37 9 86593299 86593299 + Translation_Start_Site SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:86593299T>C uc004ang.3 - 2 186 c.-38A>G c.(-40--36)ATATA>ATGTA HNRNPK_uc011lsw.1_5'Flank|HNRNPK_uc004and.3_5'Flank|HNRNPK_uc004ank.3_Translation_Start_Site|HNRNPK_uc004anf.3_Translation_Start_Site|HNRNPK_uc004anh.3_Translation_Start_Site|HNRNPK_uc011lsx.1_Translation_Start_Site|HNRNPK_uc004ani.3_Translation_Start_Site|HNRNPK_uc004anj.3_Translation_Start_Site|HNRNPK_uc004ann.3_Translation_Start_Site|HNRNPK_uc004anl.3_Translation_Start_Site|HNRNPK_uc004anm.3_Translation_Start_Site|RMI1_uc004anq.3_5'Flank|RMI1_uc004anr.3_5'Flank|RMI1_uc004anp.3_5'Flank NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding skin(1) 1 AGTTATTATATATCCTTGCAG 0.383 NA 6 10 0 0 0.00308 0 0 MURC 347273 broad.mit.edu 37 9 103348672 103348672 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:103348672A>T uc004bba.2 + 2 1124 c.1034A>T c.(1033-1035)AAA>ATA p.K345I NM_001018116 NP_001018126 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 345 cell differentiation|muscle organ development|transcription, DNA-dependent ovary(1) 1 Acute lymphoblastic leukemia(62;0.0461) GTTACTTTTAAATCTCAGGTG 0.423 NA 41 50 0 0 0.011902 0 0 ALDOB 229 broad.mit.edu 37 9 104189921 104189921 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:104189921A>T uc004bbk.2 - 5 465 c.383T>A c.(382-384)CTT>CAT p.L128H NM_000035 NP_000026 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 128 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) GAGGCCATCAAGCCCTGCAAG 0.498 NA 12 54 0 0 0.00245 0 0 OR13C2 392376 broad.mit.edu 37 9 107367202 107367202 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:107367202T>A uc011lvq.1 - 1 707 c.707A>T c.(706-708)AAA>ATA p.K236I NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AGAGGAAGCTTTGCTTCTCCC 0.393 NA 31 55 0 0 0.013726 0 0 ZNF483 158399 broad.mit.edu 37 9 114305028 114305028 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:114305028A>G uc004bff.2 + 6 2037 c.1813A>G c.(1813-1815)AAA>GAA p.K605E ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 605 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 CACTGGAGAAAAACCATATTT 0.378 NA 22 31 0 0 0.014323 0 0 ASTN2 23245 broad.mit.edu 37 9 119770520 119770520 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:119770520C>T uc004bjs.1 - 7 1543 c.1442G>A c.(1441-1443)AGT>AAT p.S481N ASTN2_uc004bjr.1_Missense_Mutation_p.S481N|ASTN2_uc004bjt.1_Missense_Mutation_p.S430N NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 481 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GCTCCCTTCACTCACCACGAA 0.498 NA 12 57 0 0 0.001855 0 0 BAT2L1 84726 broad.mit.edu 37 9 134334625 134334625 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:134334625G>C uc004can.3 + 10 1341 c.1286G>C c.(1285-1287)CGA>CCA p.R429P BAT2L1_uc010mzj.1_Missense_Mutation_p.R13P NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 429 protein binding 0 AAGCGGACTCGAGAGGAAGGG 0.592 NA 39 111 0 0 0.010771 0 0 CEL 1056 broad.mit.edu 37 9 135947032 135947032 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:135947032C>A uc010naa.1 + 11 2168 c.2152C>A c.(2152-2154)CCG>ACG p.P718T NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 715 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).|15. cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGCCCCCGTGCCGCCCACGGG 0.731 NA 3 15 1.23904e-05 1.36604e-05 0.000602 1 0 LCN9 392399 broad.mit.edu 37 9 138556120 138556120 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:138556120G>T uc004cgk.1 + 2 209 c.209G>T c.(208-210)AGC>ATC p.S70I NM_001001676 NP_001001676 Q8WX39 LCN9_HUMAN lipocalin 9 70 extracellular region pheromone binding|transporter activity large_intestine(2) 2 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) AAGAACGGCAGCCTAATATTT 0.473 NA 63 97 4.66136e-34 7.61356e-34 0.01441 1 0 TLR8 51311 broad.mit.edu 37 X 12938519 12938519 + Nonsense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:12938519C>T uc004cve.2 + 2 1428 c.1360C>T c.(1360-1362)CGA>TGA p.R454* TLR8_uc004cvd.2_Nonsense_Mutation_p.R472* NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 454 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 TATCCGGAAACGACGCTCAAC 0.388 NA 39 28 0 0 0.010771 0 0 WAS 7454 broad.mit.edu 37 X 48546470 48546470 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:48546470C>A uc004dkm.3 + 8 819 c.762C>A c.(760-762)CCC>CCA p.P254P NM_000377 NP_000368 P42768 WASP_HUMAN Wiskott-Aldrich syndrome protein 254 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity ovary(1) 1 all_lung(315;1.27e-10) GGTGGGACCCCCAGAATGGAT 0.552 NA Mis|N|F|S lymphoma Wiskott-Aldrich_syndrome 4 10 0.00909568 0.0093939 0.009096 1 0 OGT 8473 broad.mit.edu 37 X 70774416 70774416 + Silent SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:70774416C>G uc004eaa.1 + 6 919 c.702C>G c.(700-702)GTC>GTG p.V234V BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.V224V|OGT_uc004eac.2_Silent_p.V95V|OGT_uc004ead.2_5'UTR NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 234 TPR 6. cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) TAGGAAATGTCTTGAAAGAGG 0.358 NA 3 69 0 0 0.009096 0 0 COL4A5 1287 broad.mit.edu 37 X 107814662 107814662 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:107814662G>T uc004enz.1 + 7 606 c.404G>T c.(403-405)GGC>GTC p.G135V COL4A5_uc011mso.1_Missense_Mutation_p.G135V NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 135 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 GGATTTCCAGGCAGTCCCGGT 0.373 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 64 33 3.39796e-24 5.18512e-24 0.01441 1 0 ALG13 79868 broad.mit.edu 37 X 110988103 110988103 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:110988103G>A uc011msy.1 + 24 2937 c.2903G>A c.(2902-2904)TGT>TAT p.C968Y ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_Missense_Mutation_p.C890Y|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_Intron Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 968 Pro-rich. 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 lung(1) 1 ccTTATTCCTGTGATCCAAGC 0.264 NA 10 4 0 0 0.013537 0 0 TRPC5 7224 broad.mit.edu 37 X 111020010 111020010 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:111020010G>T uc004epl.1 - 11 3372 c.2453C>A c.(2452-2454)CCA>CAA p.P818Q NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 818 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 ACTGGACCTTGGCATGGTTCT 0.498 NA 89 54 2.75442e-36 4.56654e-36 0.01441 1 0 LHFPL1 340596 broad.mit.edu 37 X 111874652 111874652 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:111874652G>T uc004epq.2 - 4 992 c.659C>A c.(658-660)CCT>CAT p.P220H LHFPL1_uc004epp.2_Missense_Mutation_p.P243H|LHFPL1_uc010nqa.2_RNA|LHFPL1_uc010nqb.2_Missense_Mutation_p.P187H NM_178175 NP_835469 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 precursor 220 integral to membrane 0 CAAAGCTCAAGGTTTGAGGCA 0.463 NA 40 38 1.41504e-22 2.12255e-22 0.011902 1 0 ZSWIM5 57643 broad.mit.edu 37 1 45508890 45508890 + Splice_Site DEL C C - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:45508890delC uc001cnd.2 - 6 1837 c.1609_splice c.e6+1 p.E537_splice NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) GCTAGACTTACCAAGCCACAG 0.478 NA 39 108 --- --- --- --- NA NA NA NA NA BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:147091501delC uc001epq.2 + 8 2280 c.1540delC c.(1540-1542)CCCfs p.P514fs BCL9_uc010ozr.1_Frame_Shift_Del_p.P440fs NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 514 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 NA T IGH@|IGL@ B-ALL 7 467 --- --- --- --- NA NA NA NA NA OBSCN 84033 broad.mit.edu 37 1 228558786 228558786 + Frame_Shift_Del DEL C C - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:228558786delC uc009xez.1 + 94 20351 c.20307delC c.(20305-20307)GGCfs p.G6769fs OBSCN_uc001hsr.1_Frame_Shift_Del_p.G1398fs NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6769 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 stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TGCTGCGGGGCCCACCCGACA 0.662 NA 60 55 --- --- --- --- NA NA NA NA NA PBLD 64081 broad.mit.edu 37 10 70048359 70048375 + Frame_Shift_Del DEL CCTGTGTTTTCAACTTG CCTGTGTTTTCAACTTG - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 CCTGTGTTTTCAACTTG CCTGTGTTTTCAACTTG - - CCTGTGTTTTCAACTTG CCTGTGTTTTCAACTTG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:70048359_70048375delCCTGTGTTTTCAACTTG uc001jns.1 - 8 759_775 c.556_572delCAAGTTGAAAACACAGG c.(556-573)CAAGTTGAAAACACAGGGfs p.Q186fs PBLD_uc001jnr.1_Frame_Shift_Del_p.Q153fs|PBLD_uc001jnt.1_Frame_Shift_Del_p.Q186fs|PBLD_uc001jnu.1_Frame_Shift_Del_p.Q186fs|PBLD_uc001jnv.1_3'UTR NM_022129 NP_071412 P30039 PBLD_HUMAN MAWD binding protein isoform a 186_191 biosynthetic process isomerase activity skin(2)|ovary(1) 3 TTTCACCTTCCCTGTGTTTTCAACTTGCAGCAGATTC 0.461 NA 15 152 --- --- --- --- NA NA NA NA NA RPH3A 22895 broad.mit.edu 37 12 113303262 113303262 + Frame_Shift_Del DEL G G - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:113303262delG uc010syl.1 + 6 636 c.274delG c.(274-276)GGAfs p.G92fs RPH3A_uc001ttz.2_Frame_Shift_Del_p.G92fs|RPH3A_uc001tty.2_Frame_Shift_Del_p.G88fs|RPH3A_uc009zwe.1_Frame_Shift_Del_p.G88fs|RPH3A_uc010sym.1_Frame_Shift_Del_p.G43fs|RPH3A_uc001tua.2_5'Flank NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 92 RabBD.|FYVE-type. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding p.N92N(1) ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) GAACGTGGCTGGAGATGGGGT 0.532 NA 70 167 --- --- --- --- NA NA NA NA NA KRTAP1-1 81851 broad.mit.edu 37 17 39197262 39197262 + Frame_Shift_Del DEL G G - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:39197262delG uc002hvw.1 - 1 452 c.388delC c.(388-390)CTGfs p.L130fs NM_030967 NP_112229 Q07627 KRA11_HUMAN keratin associated protein 1-1 130 extracellular region|keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CAGGGGGGCAGGCAGGTACCC 0.667 NA 8 74 --- --- --- --- NA NA NA NA NA RUNDC1 146923 broad.mit.edu 37 17 41143406 41143406 + Frame_Shift_Del DEL G G - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:41143406delG uc002ici.1 + 5 1527 c.1515delG c.(1513-1515)ACGfs p.T505fs RUNDC1_uc010whi.1_Frame_Shift_Del_p.T275fs NM_173079 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 505 RUN. 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) TTCCTGTTACGGGAGGCACTG 0.542 NA 72 91 --- --- --- --- NA NA NA NA NA COL5A3 50509 broad.mit.edu 37 19 10080331 10080332 + Frame_Shift_Ins INS - - T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:10080331_10080332insT uc002mmq.1 - 56 4103_4104 c.4017_4018insA c.(4015-4020)CCAGGGfs p.P1339fs NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1339_1340 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CCCGTCCTCCCTGGGGGCCCAT 0.673 NA 12 36 --- --- --- --- NA NA NA NA NA ZNF536 9745 broad.mit.edu 37 19 30935349 30935350 + Frame_Shift_Ins INS - - T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:30935349_30935350insT uc002nsu.1 + 2 1018_1019 c.880_881insT c.(880-882)CGCfs p.R294fs ZNF536_uc010edd.1_Frame_Shift_Ins_p.R294fs NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 294 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CCGCCACATCCGCATCTTGCAC 0.644 NA 68 183 --- --- --- --- NA NA NA NA NA PSG1 5669 broad.mit.edu 37 19 43348706 43348706 + Frame_Shift_Del DEL G G - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:43348706delG uc002oux.1 - 5 1239 c.1090delC c.(1090-1092)CTTfs p.L364fs PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Intron|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_RNA|PSG8_uc002oup.3_Intron|PSG10_uc010eip.2_RNA|PSG1_uc002our.1_Intron|PSG1_uc010eio.1_Intron|PSG1_uc002ouy.1_Frame_Shift_Del_p.L342fs NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 350 Ig-like C2-type 3. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) GACAAGTAAAGGTTTTGTCCT 0.458 NA 96 212 --- --- --- --- NA NA NA NA NA FRK 2444 broad.mit.edu 37 6 116289825 116289827 + In_Frame_Del DEL TTC TTC - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 TTC TTC - - TTC TTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:116289825_116289827delTTC uc003pwi.1 - 3 989_991 c.542_544delGAA c.(541-546)AGAATC>ATC p.R181del NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 181 SH2. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) GTTGAAAAGATTCTTCTTCGCGT 0.409 NA 22 148 --- --- --- --- NA NA NA NA NA SHPRH 257218 broad.mit.edu 37 6 146276182 146276182 + Frame_Shift_Del DEL A A - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:146276182delA uc003qlf.2 - 2 676 c.277delT c.(277-279)TCCfs p.S93fs SHPRH_uc003qld.2_Frame_Shift_Del_p.S93fs|SHPRH_uc003qle.2_Frame_Shift_Del_p.S93fs|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Intron|SHPRH_uc003qlk.1_Frame_Shift_Del_p.S93fs NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 93 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GACAAAGGGGAAAAAATACCA 0.363 NA 8 74 --- --- --- --- NA NA NA NA NA ISCA1 81689 broad.mit.edu 37 9 88881102 88881103 + Frame_Shift_Ins INS - - A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:88881102_88881103insA uc004aop.2 - 4 362_363 c.245_246insT c.(244-246)GTCfs p.V82fs GOLM1_uc010mqd.1_Intron NM_030940 NP_112202 Q9BUE6 ISCA1_HUMAN HESB like domain containing 2 precursor 82 iron-sulfur cluster assembly mitochondrion iron-sulfur cluster binding|metal ion binding|structural molecule activity 0 OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375) TGAATACTCTGACTCCTTGGAG 0.287 NA 16 102 --- --- --- --- NA NA NA NA NA FAM58A 92002 broad.mit.edu 37 X 152860006 152860006 + Frame_Shift_Del DEL T T - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:152860006delT uc010nug.2 - 2 345 c.242delA c.(241-243)AAGfs p.K81fs Q8N1B3 FA58A_HUMAN RecName: Full=Cyclin-related protein FAM58B; 143 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTATGTACCTTGTGTGGATG 0.537 NA 76 55 --- --- --- --- NA NA NA NA NA