Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PRDM16 63976 broad.mit.edu 37 1 3319429 3319429 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:3319429T>G uc001akf.2 + 6 831 c.751T>G c.(751-753)TAC>GAC p.Y251D PRDM16_uc001akc.2_Missense_Mutation_p.Y251D|PRDM16_uc001akd.2_Missense_Mutation_p.Y251D|PRDM16_uc001ake.2_Missense_Mutation_p.Y251D|PRDM16_uc009vlh.2_5'UTR NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 251 C2H2-type 1; atypical. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCATAAGAAGTACACGTGTGG 0.637 NA T EVI1 MDS|AML 49 33 0 0 0 0 CCDC27 148870 broad.mit.edu 37 1 3679735 3679735 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:3679735G>T uc001akv.2 + 7 1099 c.1018G>T c.(1018-1020)GAC>TAC p.D340Y NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 340 Glu-rich. skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TGGCGAGGAGGACGAGGGCCT 0.617 NA 3 0 0.004672 0.00669548 1 0 KIAA0562 9731 broad.mit.edu 37 1 3754057 3754057 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:3754057G>C uc001aky.2 - 9 1277 c.918C>G c.(916-918)CTC>CTG p.L306L KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Silent_p.L306L NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 306 centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) CGAGGGGCTGGAGGGGCAAAT 0.458 NA 22 27 0 0 0 0 MASP2 10747 broad.mit.edu 37 1 11090242 11090242 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:11090242A>T uc001aru.2 - 10 1309 c.1288T>A c.(1288-1290)TGT>AGT p.C430S NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform 430 Sushi 2. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) CCAGGCTCACAGACTGGGAGT 0.438 NA 45 33 0 0 0 0 LOC649330 649330 broad.mit.edu 37 1 12908094 12908094 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:12908094G>C uc009vno.2 - 1 144 c.49C>G c.(49-51)CGT>GGT p.R17G HNRNPCL1_uc010obf.1_Missense_Mutation_p.R17G NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 17 nucleic acid binding|nucleotide binding 0 ATGAACACACGGGAGTTCATG 0.463 NA 33 111 0 0 0 0 TAS1R2 80834 broad.mit.edu 37 1 19168324 19168324 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:19168324T>A uc001bba.1 - 5 1491 c.1490A>T c.(1489-1491)AAG>ATG p.K497M NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 497 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) CTGGCACCTCTTGGAACACAT 0.587 NA 25 75 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19428082 19428082 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:19428082G>T uc001bbi.2 - 88 12959 c.12955C>A c.(12955-12957)CGC>AGC p.R4319S UBR4_uc010ocv.1_5'Flank|UBR4_uc009vph.2_5'Flank|UBR4_uc010ocw.1_Missense_Mutation_p.R10S|UBR4_uc001bbg.2_Missense_Mutation_p.R30S|UBR4_uc001bbh.2_Missense_Mutation_p.R28S NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 4319 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGATTGTAGCGCTTGGCTGTC 0.527 NA 37 79 2.87e-16 5.64e-16 1 0 PINK1 65018 broad.mit.edu 37 1 20977105 20977105 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:20977105T>A uc001bdm.2 + 8 1761 c.1667T>A c.(1666-1668)ATG>AAG p.M556K PINK1_uc001bdn.2_Missense_Mutation_p.M249K NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 precursor 556 Cytoplasmic (Potential). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding ovary(2)|central_nervous_system(1) 3 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AAAATGAAGATGCTCTTTCTG 0.542 NA 32 23 0 0 0 0 EPHA8 2046 broad.mit.edu 37 1 22919856 22919856 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:22919856G>A uc001bfx.1 + 6 1478 c.1353G>A c.(1351-1353)GCG>GCA p.A451A NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 451 Extracellular (Potential).|Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AAGAGCGGGCGGGGCAGACCA 0.657 NA 3 3 0 0 0 0 EPHA8 2046 broad.mit.edu 37 1 22927255 22927255 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:22927255G>T uc001bfx.1 + 14 2615 c.2490G>T c.(2488-2490)GAG>GAT p.E830D NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 830 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCATGTGGGAGGTGCTGGCCT 0.682 NA 55 45 6.61e-23 1.37e-22 1 0 C1QB 713 broad.mit.edu 37 1 22987522 22987522 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:22987522C>A uc001bgd.2 + 3 537 c.405C>A c.(403-405)CGC>CGA p.R135R NM_000491 NP_000482 P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 135 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCCCCCTGCGCCGGGACCAGA 0.592 NA 63 50 5.11e-33 1.08e-32 1 0 EPHB2 2048 broad.mit.edu 37 1 23234658 23234658 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:23234658C>A uc009vqj.1 + 12 2494 c.2349C>A c.(2347-2349)GCC>GCA p.A783A EPHB2_uc001bge.2_Silent_p.A784A|EPHB2_uc001bgf.2_Silent_p.A783A|EPHB2_uc010odu.1_Silent_p.A725A NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 783 Cytoplasmic (Potential).|Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ACACCAGTGCCCTGGTAAGAT 0.493 NA Hereditary_Prostate_Cancer 24 22 9.96e-16 1.94e-15 1 0 E2F2 1870 broad.mit.edu 37 1 23857277 23857277 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:23857277T>A uc001bhe.1 - 1 437 c.9A>T c.(7-9)CAA>CAT p.Q3H NM_004091 NP_004082 Q14209 E2F2_HUMAN E2F transcription factor 2 3 G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(2)|skin(2) 4 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) CCCGGGGCCCTTGCAGCATAG 0.721 NA 9 7 0 0 0 0 ARID1A 8289 broad.mit.edu 37 1 27089589 27089589 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:27089589C>T uc001bmv.1 + 8 2918 c.2545C>T c.(2545-2547)CCT>TCT p.P849S ARID1A_uc001bmt.1_Missense_Mutation_p.P849S|ARID1A_uc001bmu.1_Missense_Mutation_p.P849S|ARID1A_uc001bmw.1_Missense_Mutation_p.P466S NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 849 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGGCATCCCACCTTATGGCAC 0.587 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 17 43 0 0 0 0 CSMD2 114784 broad.mit.edu 37 1 34180246 34180246 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:34180246C>A uc001bxn.1 - 21 3256 c.3227G>T c.(3226-3228)CGC>CTC p.R1076L CSMD2_uc001bxm.1_Missense_Mutation_p.R1116L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1076 Sushi 6.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCACGTGATGCGGGCGGTGCC 0.627 NA 158 105 2.64e-51 5.64e-51 1 0 UTP11L 51118 broad.mit.edu 37 1 38484769 38484769 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:38484769T>A uc001ccn.3 + 5 472 c.381T>A c.(379-381)GAT>GAA p.D127E UTP11L_uc009vvm.2_Missense_Mutation_p.D58E|UTP11L_uc010oil.1_RNA|UTP11L_uc001cco.3_Missense_Mutation_p.D58E NM_016037 NP_057121 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar 127 induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ATCTGCTGGATTTCCAGGGGA 0.378 NA 34 18 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39763349 39763349 + Nonsense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:39763349A>T uc010ois.1 + 22 2633 c.2428A>T c.(2428-2430)AAA>TAA p.K810* MACF1_uc001cda.1_Nonsense_Mutation_p.K718*|MACF1_uc001cdc.1_5'Flank|MACF1_uc009vvq.1_5'Flank|MACF1_uc001cdb.1_5'Flank NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 810 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATTCCATTAAACGAAAATA 0.463 NA 46 26 0 0 0 0 TIE1 7075 broad.mit.edu 37 1 43770797 43770798 + Missense_Mutation DNP CG CG AT TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:43770797_43770798CG>AT uc001ciu.2 + 2 413_414 c.334_335CG>AT c.(334-336)CGG>ATG p.R112M TIE1_uc010okd.1_Missense_Mutation_p.R112M|TIE1_uc010oke.1_Missense_Mutation_p.R67M|TIE1_uc009vwq.2_Missense_Mutation_p.R112M|TIE1_uc010okf.1_Translation_Start_Site|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Missense_Mutation_p.R112M|TIE1_uc010okb.1_Missense_Mutation_p.R112M|TIE1_uc010okc.1_Missense_Mutation_p.R112M NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 112 Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCTGGGGCGCGGCGCACGCGC 0.703 NA 12 16 0 0 0 0 TAL1 6886 broad.mit.edu 37 1 47689705 47689705 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:47689705G>A uc001cqx.2 - 3 1089 c.512C>T c.(511-513)CCT>CTT p.P171L TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.P171L|TAL1_uc001cra.1_RNA|TAL1_uc001cqz.1_RNA NM_003189 NP_003180 P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 171 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity lung(1) 1 ATAGGGGGAAGGTCTCCTCTT 0.572 NA T TRD@|SIL lymphoblastic leukemia/biphasic 61 52 0 0 0 0 CYB5RL 606495 broad.mit.edu 37 1 54645006 54645006 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:54645006A>T uc009vzo.2 - 7 880 c.560T>A c.(559-561)CTG>CAG p.L187Q CYB5RL_uc001cww.2_Missense_Mutation_p.L77Q|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Missense_Mutation_p.L39Q NM_001031672 NP_001026842 Q6IPT4 NB5R5_HUMAN cytochrome b5 reductase-like 187 FAD (By similarity). cytochrome-b5 reductase activity 0 GCCCGCAGCCAGCAAGAGGAG 0.542 NA 9 12 0 0 0 0 KANK4 163782 broad.mit.edu 37 1 62728768 62728768 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:62728768C>T uc001dah.3 - 7 2912 c.2535G>A c.(2533-2535)GAG>GAA p.E845E KANK4_uc001dai.3_Silent_p.E217E|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Silent_p.E201E NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 845 ANK 1. ovary(3)|skin(2)|lung(1) 6 TCTGACCTGTCTCCAGCAGCA 0.428 NA 10 10 0 0 0 0 CACHD1 57685 broad.mit.edu 37 1 65138857 65138857 + Missense_Mutation SNP G G T rs148780022 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:65138857G>T uc001dbo.1 + 18 2479 c.2374G>T c.(2374-2376)GAC>TAC p.D792Y CACHD1_uc001dbp.1_Missense_Mutation_p.D547Y|CACHD1_uc001dbq.1_Missense_Mutation_p.D547Y|CACHD1_uc010opa.1_Missense_Mutation_p.D36Y NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 843 Extracellular (Potential).|Cache 2. calcium ion transport integral to membrane ovary(2) 2 CATAATGGAGGACAGGGGTTA 0.453 NA 99 79 2.65e-51 5.67e-51 1 0 LEPR 3953 broad.mit.edu 37 1 66036415 66036415 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:66036415C>A uc001dci.2 + 4 502 c.300C>A c.(298-300)TCC>TCA p.S100S LEPR_uc001dcg.2_Silent_p.S100S|LEPR_uc001dch.2_Silent_p.S100S|LEPR_uc009waq.2_Silent_p.S100S|LEPR_uc001dcj.2_Silent_p.S100S|LEPR_uc001dck.2_Silent_p.S100S NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 100 Extracellular (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GAAACTGCTCCTTATGTGCAG 0.333 NA 36 23 1.97e-18 3.94e-18 1 0 WDR78 79819 broad.mit.edu 37 1 67359072 67359072 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:67359072C>A uc001dcx.2 - 3 426 c.370G>T c.(370-372)GTT>TTT p.V124F WDR78_uc001dcy.2_Missense_Mutation_p.V124F|WDR78_uc001dcz.2_Missense_Mutation_p.V124F|WDR78_uc009wax.2_5'Flank NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 124 ovary(2) 2 CGGGGAGTAACATCAGTTCCA 0.343 NA 26 19 2.49e-11 4.54e-11 1 0 LRRC7 57554 broad.mit.edu 37 1 70493932 70493932 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:70493932G>A uc001dep.2 + 16 1789 c.1759G>A c.(1759-1761)GTG>ATG p.V587M LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 587 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TCAAAATTTGGTGGGTAAGCC 0.378 NA 17 54 0 0 0 0 FPGT 8790 broad.mit.edu 37 1 74670412 74670412 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:74670412C>G uc001dgb.1 + 4 718 c.681C>G c.(679-681)TTC>TTG p.F227L TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 227 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 GCCATCGTTTCCTTCATAAGC 0.403 NA 15 47 0 0 0 0 IFI44L 10964 broad.mit.edu 37 1 79106756 79106756 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:79106756C>A uc010oro.1 + 7 1278 c.1099C>A c.(1099-1101)CTT>ATT p.L367I IFI44L_uc010orp.1_Missense_Mutation_p.L104I|IFI44L_uc010orq.1_Missense_Mutation_p.L104I NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 367 cytoplasm 0 CAGTGAGGTTCTTCAAGACAA 0.313 NA 61 34 1.46e-27 3.05e-27 1 0 CCBL2 56267 broad.mit.edu 37 1 89430571 89430571 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:89430571C>A uc001dmp.2 - 5 771 c.394G>T c.(394-396)GTA>TTA p.V132L CCBL2_uc001dmq.2_Missense_Mutation_p.V98L|CCBL2_uc001dmr.2_5'UTR NM_001008661 NP_001008661 Q6YP21 KAT3_HUMAN kynurenine aminotransferase III isoform 1 132 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding ovary(1) 1 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TATGCTCCTACTGTCACAAGG 0.333 NA 26 24 7.08e-08 1.2e-07 1 0 DPYD 1806 broad.mit.edu 37 1 97700482 97700482 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:97700482T>A uc001drv.2 - 19 2505 c.2368A>T c.(2368-2370)ATT>TTT p.I790F NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 790 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GTAGCCAAAATGGGAAATCCA 0.463 NA 39 27 0 0 0 0 DPYD 1806 broad.mit.edu 37 1 97771816 97771816 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:97771816C>A uc001drv.2 - 17 2233 c.2096G>T c.(2095-2097)AGG>ATG p.R699M NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 699 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AACAGCTTGCCTAACCCAGCG 0.423 NA 41 157 6.46e-13 1.2e-12 1 0 LPPR5 163404 broad.mit.edu 37 1 99418732 99418732 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:99418732C>A uc001dsb.2 - 3 737 c.515G>T c.(514-516)AGT>ATT p.S172I LPPR5_uc001dsc.2_Missense_Mutation_p.S172I NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 172 integral to membrane hydrolase activity 0 CTCTTCCCCACTGATGAATTG 0.478 NA 32 24 1.89e-17 3.75e-17 1 0 CELSR2 1952 broad.mit.edu 37 1 109803804 109803804 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:109803804G>A uc001dxa.3 + 3 4160 c.4099G>A c.(4099-4101)GTG>ATG p.V1367M NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1367 Extracellular (Potential).|Laminin G-like 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTACTGCCAGGTGACCACGCG 0.632 NA 28 67 0 0 0 0 AMPD2 271 broad.mit.edu 37 1 110170415 110170415 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:110170415C>A uc009wfh.1 + 10 1674 c.1132C>A c.(1132-1134)CGG>AGG p.R378R AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Silent_p.R297R|AMPD2_uc001dyc.1_Silent_p.R378R|AMPD2_uc010ovr.1_Silent_p.R303R|AMPD2_uc010ovs.1_Silent_p.R260R|AMPD2_uc001dyd.1_Silent_p.R259R|AMPD2_uc001dye.1_5'Flank NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 378 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CTGCTACCGCCGGCTGCAGTA 0.557 NA 13 41 1.36e-13 2.58e-13 1 0 GSTM4 2948 broad.mit.edu 37 1 110203833 110203833 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:110203833C>G uc001dyf.2 + 8 928 c.614C>G c.(613-615)CCA>CGA p.P205R GSTM4_uc001dyg.2_Missense_Mutation_p.P101R|GSTM4_uc009wfj.2_Missense_Mutation_p.P144R|GSTM4_uc001dyh.2_Intron|GSTM2_uc001dyi.2_Intron NM_000850 NP_000841 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 isoform 1 205 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) CGCTTCCTCCCAAAACCTCTG 0.577 NA 16 164 0 0 0 0 PTPN22 26191 broad.mit.edu 37 1 114376998 114376998 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:114376998G>T uc001eds.2 - 15 2088 c.1958C>A c.(1957-1959)TCA>TAA p.S653* PTPN22_uc009wgq.2_Nonsense_Mutation_p.S598*|PTPN22_uc010owo.1_Nonsense_Mutation_p.S409*|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Nonsense_Mutation_p.S653*|PTPN22_uc009wgs.2_Nonsense_Mutation_p.S526*|PTPN22_uc001edu.2_Nonsense_Mutation_p.S653* NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 653 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCATTCCAGTGATGTTCCAAT 0.363 NA 26 71 1.18e-14 2.27e-14 1 0 AP4B1 10717 broad.mit.edu 37 1 114442738 114442738 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:114442738C>T uc001eeb.2 - 5 1045 c.902G>A c.(901-903)CGC>CAC p.R301H uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.R133H|AP4B1_uc001eed.2_Missense_Mutation_p.R301H|AP4B1_uc010owp.1_Missense_Mutation_p.R202H|AP4B1_uc001eea.1_Missense_Mutation_p.R95H|AP4B1_uc001eee.1_5'Flank|AP4B1_uc010owq.1_Missense_Mutation_p.R208H NM_006594 NP_006585 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 301 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity ovary(3)|central_nervous_system(1) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAAGATCTGGCGTACATGACA 0.473 NA 41 92 0 0 0 0 SYCP1 6847 broad.mit.edu 37 1 115527424 115527424 + Nonsense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:115527424A>T uc001efr.2 + 30 2847 c.2638A>T c.(2638-2640)AAA>TAA p.K880* SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Nonsense_Mutation_p.K880*|SYCP1_uc009wgw.2_Nonsense_Mutation_p.K855* NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 880 Nuclear localization signal (Potential). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAAAGTAAAAAAAAGAGAAA 0.249 NA 31 66 0 0 0 0 NGF 4803 broad.mit.edu 37 1 115828838 115828838 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:115828838G>A uc001efu.1 - 3 748 c.579C>T c.(577-579)GAC>GAT p.D193D NM_002506 NP_002497 P01138 NGF_HUMAN nerve growth factor, beta polypeptide precursor 193 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding upper_aerodigestive_tract(2) 2 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) AGTGCTTTGAGTCAATGCCCC 0.507 NA 23 50 0 0 0 0 IGSF3 3321 broad.mit.edu 37 1 117142746 117142746 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:117142746G>C uc001egr.1 - 7 2551 c.1846C>G c.(1846-1848)CGA>GGA p.R616G IGSF3_uc001egq.1_Missense_Mutation_p.R636G|IGSF3_uc001egs.1_Missense_Mutation_p.R289G NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 616 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) ATGGCAGTTCGGGTTCGGAAG 0.627 NA 10 20 0 0 0 0 HSD3B2 3284 broad.mit.edu 37 1 119958051 119958051 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:119958051G>T uc001ehs.2 + 1 782 c.9G>T c.(7-9)TGG>TGT p.W3C HSD3B2_uc001eht.2_Missense_Mutation_p.W3C|HSD3B2_uc001ehu.2_Missense_Mutation_p.W3C NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 3 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CGATGGGCTGGAGCTGCCTTG 0.552 NA 24 71 7.88e-14 1.49e-13 1 0 PDE4DIP 9659 broad.mit.edu 37 1 145075769 145075769 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:145075769G>C uc001emh.2 - 1 311 c.94C>G c.(94-96)CGG>GGG p.R32G NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.R32G|PDE4DIP_uc001emk.2_Missense_Mutation_p.R32G NM_022359 NP_071754 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCCCGGACCGGTAAGGCGTG 0.716 NA T PDGFRB MPD 11 70 0 0 0 0 LIX1L 128077 broad.mit.edu 37 1 145497393 145497393 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:145497393G>T uc001enr.2 + 4 672 c.598G>T c.(598-600)GGC>TGC p.G200C NBPF10_uc001emp.3_Intron|LIX1L_uc009wiu.1_5'Flank NM_153713 NP_714924 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse) like 200 ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTACTACCAGGGCAACAGGGA 0.353 NA 10 41 0.000978159 0.00145136 1 0 GJA5 2702 broad.mit.edu 37 1 147231343 147231343 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:147231343C>A uc001eps.1 - 2 145 c.4G>T c.(4-6)GGC>TGC p.G2C GJA5_uc001ept.1_Missense_Mutation_p.G2C NM_181703 NP_859054 P36382 CXA5_HUMAN connexin 40 2 Cytoplasmic (Potential). angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane ovary(1) 1 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CTCCAATCGCCCATCTTGGCA 0.493 NA 16 69 2e-07 3.35e-07 1 0 HRNR 388697 broad.mit.edu 37 1 152192079 152192079 + Missense_Mutation SNP C C T rs141565920 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:152192079C>T uc001ezt.1 - 3 2102 c.2026G>A c.(2026-2028)GGC>AGC p.G676S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 676 6 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGTTGGCCGTAGCTGGAA 0.587 NA 90 178 0 0 0 0 CRNN 49860 broad.mit.edu 37 1 152382869 152382869 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:152382869G>T uc001ezx.2 - 3 763 c.689C>A c.(688-690)TCT>TAT p.S230Y NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 230 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGTTCCAGATCCAGTCAC 0.577 NA 98 211 4.71e-34 9.98e-34 1 0 SPRR1B 6699 broad.mit.edu 37 1 153004977 153004977 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:153004977A>G uc001fba.2 + 2 220 c.156A>G c.(154-156)AAA>AAG p.K52K SPRR1B_uc009wnx.1_RNA NM_003125 NP_003116 P22528 SPR1B_HUMAN small proline-rich protein 1B 52 6 X 8 AA approximate tandem repeats.|3. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(1) 1 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCACCCCAAAGTGCCCGAGC 0.627 NA 13 122 0 0 0 0 NES 10763 broad.mit.edu 37 1 156642721 156642721 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:156642721C>A uc001fpq.2 - 4 1392 c.1259G>T c.(1258-1260)GGG>GTG p.G420V NM_006617 NP_006608 P48681 NEST_HUMAN nestin 420 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGTTTCCTCCCACCCTGTGT 0.657 NA 24 67 4.48e-21 9.13e-21 1 0 OR6K6 128371 broad.mit.edu 37 1 158724824 158724824 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:158724824G>T uc001fsw.1 + 1 219 c.219G>T c.(217-219)ATG>ATT p.M73I NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 73 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) ACCTAATAATGTTCATTGTCA 0.468 NA 32 125 1.46e-13 2.75e-13 1 0 CCDC19 25790 broad.mit.edu 37 1 159850454 159850454 + Nonsense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:159850454G>A uc001fui.2 - 8 952 c.934C>T c.(934-936)CAA>TAA p.Q312* CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Nonsense_Mutation_p.Q227*|CCDC19_uc001ful.2_Nonsense_Mutation_p.Q227*|CCDC19_uc009wtc.1_Nonsense_Mutation_p.Q298* NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 312 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) ATCTCAGCTTGCATCTTCAGT 0.468 NA 16 65 0 0 0 0 DDR2 4921 broad.mit.edu 37 1 162724444 162724444 + Nonsense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:162724444G>A uc001gcf.2 + 6 681 c.216G>A c.(214-216)TGG>TGA p.W72* DDR2_uc001gcg.2_Nonsense_Mutation_p.W72* NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 72 Extracellular (Potential).|F5/8 type C. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) ATGGAGCCTGGTGCCCTGAGA 0.557 NA 38 74 0 0 0 0 RXRG 6258 broad.mit.edu 37 1 165377463 165377464 + Splice_Site DNP CC CC AA TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:165377463_165377464CC>AA uc001gda.2 - 8 1438 c.1138_splice c.e8+1 p.D380_splice NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) AGGGCGGTTACCTGGGTTAAAG 0.515 NA 34 66 0 0 0 0 DUSP27 92235 broad.mit.edu 37 1 167097589 167097589 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:167097589C>T uc001geb.1 + 5 3221 c.3221C>T c.(3220-3222)TCA>TTA p.S1074L NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1074 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GTGGAAGAGTCATCCAAGTCA 0.522 NA 10 14 0 0 0 0 SELL 6402 broad.mit.edu 37 1 169673747 169673747 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:169673747G>T uc001ggk.2 - 5 926 c.728C>A c.(727-729)CCA>CAA p.P243Q C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.P196Q|SELL_uc001ggl.1_Missense_Mutation_p.P256Q NM_000655 NP_000646 P14151 LYAM1_HUMAN selectin L precursor 243 Extracellular (Potential).|Sushi 1. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding 0 all_hematologic(923;0.208) GTTTCCAAATGGTCCACAGGT 0.463 NA 3 3 0.004672 0.00669548 1 0 KIFAP3 22920 broad.mit.edu 37 1 169941740 169941740 + Splice_Site SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:169941740C>G uc001ggv.2 - 17 2169 c.1898_splice c.e17-1 p.Q633_splice KIFAP3_uc010plx.1_Splice_Site_p.Q335_splice NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTGGAGCCTCTGAATAAAAA 0.279 NA 7 18 0 0 0 0 C1orf129 80133 broad.mit.edu 37 1 170961417 170961417 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:170961417G>A uc001ghg.2 + 12 1271 c.1141G>A c.(1141-1143)GTA>ATA p.V381I C1orf129_uc009wvy.2_Missense_Mutation_p.V188I|C1orf129_uc010plz.1_Missense_Mutation_p.V381I NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 381 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGAGGACACCGTAACGGAAGG 0.473 NA 17 75 0 0 0 0 TNFSF18 8995 broad.mit.edu 37 1 173010716 173010716 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:173010716C>T uc001giu.2 - 3 392 c.391G>A c.(391-393)GAT>AAT p.D131N NM_005092 NP_005083 Q9UNG2 TNF18_HUMAN tumor necrosis factor (ligand) superfamily, 131 Extracellular (Potential). anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1) 1 GGAGCTACATCATTGTAGTTT 0.383 NA 40 92 0 0 0 0 TNN 63923 broad.mit.edu 37 1 175049390 175049390 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:175049390C>A uc001gkl.1 + 4 989 c.876C>A c.(874-876)CTC>CTA p.L292L TNN_uc010pmx.1_Silent_p.L292L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 292 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ATCACTACCTCCTCAGCTACT 0.592 NA 18 37 5.39e-06 8.68e-06 1 0 TNN 63923 broad.mit.edu 37 1 175054604 175054604 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:175054604A>G uc001gkl.1 + 6 1411 c.1298A>G c.(1297-1299)AAG>AGG p.K433R TNN_uc010pmx.1_Missense_Mutation_p.K433R NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 433 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTGGAGGGCAAGCCGATCCTC 0.532 NA 6 16 0 0 0 0 TNN 63923 broad.mit.edu 37 1 175067479 175067479 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:175067479C>G uc001gkl.1 + 9 1980 c.1867C>G c.(1867-1869)CCC>GCC p.P623A TNN_uc010pmx.1_Missense_Mutation_p.P534A NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 623 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TATTGACAGCCCCAAAAACCT 0.507 NA 40 122 0 0 0 0 ABL2 27 broad.mit.edu 37 1 179077050 179077050 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:179077050C>A uc001gmj.3 - 12 3639 c.3352G>T c.(3352-3354)GAC>TAC p.D1118Y ABL2_uc010pnf.1_Missense_Mutation_p.D1015Y|ABL2_uc010png.1_Missense_Mutation_p.D994Y|ABL2_uc010pnh.1_Missense_Mutation_p.D1097Y|ABL2_uc001gmg.3_Missense_Mutation_p.D1000Y|ABL2_uc001gmi.3_Missense_Mutation_p.D1103Y|ABL2_uc001gmh.3_Missense_Mutation_p.D1082Y|ABL2_uc010pne.1_Missense_Mutation_p.D979Y NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 1118 F-actin-binding (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GAGCAGTAGTCAAGCAGCTGG 0.552 NA T ETV6 AML 15 45 7.93e-07 1.31e-06 1 0 TDRD5 163589 broad.mit.edu 37 1 179632540 179632540 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:179632540C>T uc001gnf.1 + 15 2651 c.2401C>T c.(2401-2403)CTT>TTT p.L801F TDRD5_uc010pnp.1_Missense_Mutation_p.L855F|TDRD5_uc001gnh.1_Missense_Mutation_p.L356F NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 801 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 GCCTTCAGGCCTTGTAAATGG 0.398 NA 16 45 0 0 0 0 CEP350 9857 broad.mit.edu 37 1 180061771 180061771 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:180061771G>C uc001gnt.2 + 34 6914 c.6531G>C c.(6529-6531)GAG>GAC p.E2177D CEP350_uc009wxl.2_Missense_Mutation_p.E2176D|CEP350_uc001gnv.2_Missense_Mutation_p.E312D|CEP350_uc001gnw.1_5'UTR|CEP350_uc001gnx.1_5'UTR NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2177 centrosome|nucleus|spindle ovary(4) 4 CTGGTTCTGAGAGATCAGTAT 0.348 NA 8 16 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181705563 181705563 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:181705563A>T uc001gow.2 + 22 3580 c.3415A>T c.(3415-3417)ACC>TCC p.T1139S CACNA1E_uc009wxs.2_Missense_Mutation_p.T1027S|CACNA1E_uc001gox.1_Missense_Mutation_p.T365S|CACNA1E_uc009wxt.2_Missense_Mutation_p.T365S NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1139 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CTTCAGCACCACCAACCCGTA 0.463 NA 5 13 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181754552 181754552 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:181754552C>G uc001gow.2 + 42 5842 c.5677C>G c.(5677-5679)CAG>GAG p.Q1893E CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1781E|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1119E NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1893 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GCTGGAGGAACAGGTGAAAGT 0.537 NA 6 19 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181759621 181759621 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:181759621C>T uc001gow.2 + 44 5992 c.5827C>T c.(5827-5829)CCC>TCC p.P1943S CACNA1E_uc009wxs.2_Missense_Mutation_p.P1831S|CACNA1E_uc009wxt.2_Missense_Mutation_p.P1169S NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1943 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TCCACTCTCTCCCCAGGATAT 0.498 NA 9 35 0 0 0 0 GLUL 2752 broad.mit.edu 37 1 182354693 182354693 + Splice_Site SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:182354693T>C uc001gpa.1 - 6 816 c.604_splice c.e6-1 p.W202_splice GLUL_uc010pnt.1_5'UTR|GLUL_uc001gpb.1_Splice_Site_p.W202_splice|GLUL_uc001gpc.1_Splice_Site_p.W202_splice|GLUL_uc001gpd.1_Splice_Site_p.W202_splice NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding 0 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) AAATTCCCACTAGAAACGAGA 0.463 NA 19 51 0 0 0 0 C1orf25 81627 broad.mit.edu 37 1 185114616 185114616 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:185114616T>A uc001grf.3 - 5 882 c.610A>T c.(610-612)AGG>TGG p.R204W C1orf25_uc010pon.1_Missense_Mutation_p.R48W NM_030934 NP_112196 Q7Z2T5 TRM1L_HUMAN N2,N2-dimethylguanosine tRNA 204 C2H2-type. intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding 0 ATGTGGCGCCTAACATGTCCT 0.343 NA 20 61 0 0 0 0 FAM5C 339479 broad.mit.edu 37 1 190067933 190067933 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:190067933T>A uc001gse.1 - 8 1748 c.1516A>T c.(1516-1518)AGA>TGA p.R506* FAM5C_uc010pot.1_Nonsense_Mutation_p.R404* NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 506 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TCTATTCGTCTGTCCGTTTTC 0.488 NA 53 127 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198721748 198721748 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:198721748A>T uc001gur.1 + 31 3530 c.3350A>T c.(3349-3351)CAG>CTG p.Q1117L PTPRC_uc001gus.1_Missense_Mutation_p.Q1069L|PTPRC_uc001gut.1_Missense_Mutation_p.Q956L NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1117 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 ACTGTGTACCAGTACCAATAT 0.378 NA 10 39 0 0 0 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200826433 200826433 + Splice_Site SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:200826433G>C uc001gvl.2 + 17 4316 c.4046_splice c.e17-1 p.G1349_splice CAMSAP1L1_uc001gvk.2_Splice_Site_p.G1338_splice|CAMSAP1L1_uc001gvm.2_Splice_Site_p.G1322_splice NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 CCCTACCATAGGACCAAAGCT 0.323 NA 10 25 0 0 0 0 KIF21B 23046 broad.mit.edu 37 1 200948800 200948800 + Silent SNP G G T rs144601295 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:200948800G>T uc001gvs.1 - 30 4340 c.4023C>A c.(4021-4023)ATC>ATA p.I1341I KIF21B_uc001gvr.1_Silent_p.I1328I|KIF21B_uc009wzl.1_Silent_p.I1341I|KIF21B_uc010ppn.1_Silent_p.I1328I NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1341 WD 1. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 TTAGAGCTGCGATCTCCTGTC 0.587 NA OREG0014066 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 166 4.5e-31 9.47e-31 1 0 CHIT1 1118 broad.mit.edu 37 1 203192687 203192687 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:203192687C>A uc001gzn.2 - 5 512 c.416G>T c.(415-417)TGG>TTG p.W139L FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.W130L NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 139 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 TGGGTACTCCCAGTCAAGGTC 0.582 NA 42 83 9.86e-13 1.83e-12 1 0 FCAMR 83953 broad.mit.edu 37 1 207131928 207131928 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:207131928A>T uc001hfa.3 - 8 2167 c.1667T>A c.(1666-1668)ATG>AAG p.M556K FCAMR_uc001hfb.2_3'UTR|FCAMR_uc009xca.1_3'UTR|FCAMR_uc001hfc.2_Missense_Mutation_p.M531K NM_001122980 NP_001116452 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity isoform 2 511 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(1) 1 ATCCTGGAGCATCTTTCTTTC 0.537 NA 28 62 0 0 0 0 CR1 1378 broad.mit.edu 37 1 207790123 207790123 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:207790123C>G uc001hfy.2 + 33 5655 c.5515C>G c.(5515-5517)CGC>GGC p.R1839G CR1_uc001hfx.2_Missense_Mutation_p.R2289G NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1839 Sushi 28.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 CCCTGCCCCTCGCTGTGAACT 0.507 NA 37 114 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215847664 215847664 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:215847664G>T uc001hku.1 - 63 13976 c.13589C>A c.(13588-13590)TCA>TAA p.S4530* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4530 Fibronectin type-III 31.|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) TGAGGGTGCTGAGGGGCTGGT 0.512 NA HNSCC(13;0.011) 43 81 7.05e-23 1.46e-22 1 0 WDR26 80232 broad.mit.edu 37 1 224585902 224585902 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:224585902G>C uc001hop.3 - 12 1596 c.1230C>G c.(1228-1230)GAC>GAG p.D410E WDR26_uc001hoq.3_Missense_Mutation_p.D394E|WDR26_uc010pvh.1_Missense_Mutation_p.D117E NM_025160 NP_079436 Q9H7D7 WDR26_HUMAN WD repeat domain 26 isoform a 557 WD 4. cytoplasm|nucleus 0 GBM - Glioblastoma multiforme(131;0.0104) CTAAAACTCTGTCTTGCAAGT 0.358 NA 10 18 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228481186 228481186 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:228481186G>T uc009xez.1 + 41 11044 c.11000G>T c.(10999-11001)GGA>GTA p.G3667V OBSCN_uc001hsn.2_Missense_Mutation_p.G3667V|OBSCN_uc001hsq.1_Missense_Mutation_p.G923V NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3667 Ig-like 37. 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) CTCAGAGATGGAGACAGACAC 0.642 NA 25 50 4.88e-14 9.26e-14 1 0 TAF5L 27097 broad.mit.edu 37 1 229730582 229730582 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:229730582C>A uc001htq.2 - 5 1398 c.1232G>T c.(1231-1233)TGG>TTG p.W411L NM_014409 NP_055224 O75529 TAF5L_HUMAN PCAF associated factor 65 beta isoform a 411 WD 3. histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) ATCAAATGACCACAGCCTGGC 0.547 NA 21 92 7.42e-09 1.28e-08 1 0 URB2 9816 broad.mit.edu 37 1 229794961 229794961 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:229794961A>G uc001hts.1 + 10 4628 c.4492A>G c.(4492-4494)AGA>GGA p.R1498G URB2_uc009xfd.1_Missense_Mutation_p.R1498G NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1498 nucleolus central_nervous_system(2)|ovary(1) 3 GCCGGGAATGAGAGACATCTT 0.507 NA 43 140 0 0 0 0 ACTN2 88 broad.mit.edu 37 1 236912520 236912520 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:236912520G>C uc001hyf.2 + 14 1816 c.1612G>C c.(1612-1614)GAT>CAT p.D538H ACTN2_uc001hyg.2_Missense_Mutation_p.D330H|ACTN2_uc009xgi.1_Missense_Mutation_p.D538H|ACTN2_uc010pxu.1_Missense_Mutation_p.D227H|ACTN2_uc001hyh.2_Missense_Mutation_p.D226H NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 538 Spectrin 3. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CGCTATGGAGGATCTGCAAGA 0.443 NA 17 65 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237608772 237608772 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:237608772C>A uc001hyl.1 + 14 1362 c.1242C>A c.(1240-1242)CGC>CGA p.R414R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 414 Cytoplasmic (By similarity). R -> L (in CPVT1). 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) AAGAATCACGCACAGCCCGAG 0.393 NA 25 109 2.22e-12 4.09e-12 1 0 RYR2 6262 broad.mit.edu 37 1 237947191 237947191 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:237947191A>C uc001hyl.1 + 90 12299 c.12179A>C c.(12178-12180)CAG>CCG p.Q4060P RYR2_uc010pya.1_Missense_Mutation_p.Q475P NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4060 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) CACTACACGCAGTCAGAAACG 0.483 NA 12 14 0 0 0 0 HNRNPU 3192 broad.mit.edu 37 1 245018845 245018845 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:245018845C>G uc001iaz.1 - 12 2451 c.2233G>C c.(2233-2235)GGA>CGA p.G745R HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.G469R|HNRNPU_uc001iba.1_Missense_Mutation_p.G726R NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 745 Gly-rich.|Poly-Gly. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CCACCACTTCCTCCACCGCCA 0.507 NA 30 110 0 0 0 0 AHCTF1 25909 broad.mit.edu 37 1 247013403 247013403 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:247013403C>A uc001ibu.1 - 32 5912 c.5905G>T c.(5905-5907)GCC>TCC p.A1969S AHCTF1_uc001ibv.1_Missense_Mutation_p.A1978S|AHCTF1_uc009xgs.1_Missense_Mutation_p.A830S|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 1969 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTAGGTATGGCAGACATATCA 0.428 NA 32 126 8.17e-17 1.61e-16 1 0 OR2C3 81472 broad.mit.edu 37 1 247695520 247695520 + Nonsense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:247695520A>T uc009xgy.2 - 2 656 c.294T>A c.(292-294)TGT>TGA p.C98* C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) ACTGGACCACACACCCTCCAT 0.577 NA 18 51 0 0 0 0 OR2G3 81469 broad.mit.edu 37 1 247769112 247769112 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:247769112T>C uc010pyz.1 + 1 225 c.225T>C c.(223-225)ACT>ACC p.T75T NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GCTTCACTACTAGCCTTGCTC 0.448 NA 178 207 0 0 0 0 OR13G1 441933 broad.mit.edu 37 1 247835616 247835616 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:247835616G>T uc001idi.1 - 1 728 c.728C>A c.(727-729)ACA>AAA p.T243K NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGTCACCACTGTGAGATGAGA 0.448 NA 44 42 1.42e-22 2.92e-22 1 0 OR14A16 284532 broad.mit.edu 37 1 247978277 247978277 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:247978277C>T uc001idm.1 - 1 755 c.755G>A c.(754-756)GGA>GAA p.G252E NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGCAATGAATCCAGTGGAAAG 0.433 NA 18 22 0 0 0 0 OR2T8 343172 broad.mit.edu 37 1 248084536 248084536 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248084536T>C uc010pzc.1 + 1 217 c.217T>C c.(217-219)TCC>CCC p.S73P NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GATGCTGGTTTCCACCACTGT 0.572 NA 6 129 0 0 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129117 248129117 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248129117T>A uc010pzd.1 + 1 484 c.484T>A c.(484-486)TGT>AGT p.C162S OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 162 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CATGGTTGCATGTGCATGGGC 0.413 NA 111 148 0 0 0 0 OR2M5 127059 broad.mit.edu 37 1 248309365 248309365 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248309365G>T uc010pze.1 + 1 916 c.916G>T c.(916-918)GGA>TGA p.G306* NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GAAAGTGTTAGGAAAGGGCAA 0.443 NA 38 52 1.57e-24 3.27e-24 1 0 OR2M3 127062 broad.mit.edu 37 1 248366631 248366631 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248366631G>T uc010pzg.1 + 1 262 c.262G>T c.(262-264)GGC>TGC p.G88C NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTACCTGTCTGGCAGCAAGTC 0.502 NA 135 417 1.41e-78 3.03e-78 1 0 OR2M3 127062 broad.mit.edu 37 1 248366998 248366998 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248366998C>A uc010pzg.1 + 1 629 c.629C>A c.(628-630)CCT>CAT p.P210H NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATTGTTTTCCCTGTTGCAATC 0.418 NA 168 236 5.6e-70 1.2e-69 1 0 OR2T12 127064 broad.mit.edu 37 1 248458876 248458876 + Missense_Mutation SNP T T A rs11339452 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248458876T>A uc010pzj.1 - 1 5 c.5A>T c.(4-6)GAG>GTG p.E2V NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATTTCTCATCTCCATAATTTC 0.428 NA 45 60 0 0 0 0 OR2T34 127068 broad.mit.edu 37 1 248737333 248737333 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248737333G>A uc001iep.1 - 1 726 c.726C>T c.(724-726)GCC>GCT p.A242A NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGTGGCCAAGGCCTTCCTGC 0.567 NA 112 127 0 0 0 0 OR2T11 127077 broad.mit.edu 37 1 248790227 248790227 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248790227G>C uc001ier.1 - 1 203 c.203C>G c.(202-204)ACC>AGC p.T68S NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGAAAAGGGTGTCCATGAT 0.483 NA 41 57 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16946023 16946023 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:16946023G>T uc001ioo.2 - 51 8056 c.8004C>A c.(8002-8004)CAC>CAA p.H2668Q CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.H24Q NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2668 CUB 19. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGTGACAAAGTGAATCCATA 0.378 NA 11 25 2.81e-09 4.9e-09 1 0 CUBN 8029 broad.mit.edu 37 10 17126346 17126346 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:17126346T>A uc001ioo.2 - 17 2277 c.2225A>T c.(2224-2226)CAG>CTG p.Q742L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 742 CUB 3. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGTTCTCCCTGGGGCTGCTT 0.498 NA 21 41 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 17168764 17168764 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:17168764T>A uc001ioo.2 - 4 435 c.383A>T c.(382-384)CAG>CTG p.Q128L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 128 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCTACCTGCTGCAAGCCTTG 0.393 NA 20 30 0 0 0 0 CACNB2 783 broad.mit.edu 37 10 18690910 18690910 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:18690910G>T uc001ipr.2 + 3 331 c.271G>T c.(271-273)GAC>TAC p.D91Y CACNB2_uc009xjz.1_Missense_Mutation_p.D91Y|CACNB2_uc001ips.2_Missense_Mutation_p.D91Y|CACNB2_uc001ipt.2_Missense_Mutation_p.D91Y|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.D63Y|CACNB2_uc001ipv.2_Missense_Mutation_p.D63Y|CACNB2_uc009xka.1_Missense_Mutation_p.D63Y|CACNB2_uc001ipw.2_Missense_Mutation_p.D36Y|CACNB2_uc001ipx.2_Missense_Mutation_p.D36Y|CACNB2_uc009xkb.1_Missense_Mutation_p.D37Y|CACNB2_uc010qcm.1_Missense_Mutation_p.D37Y|CACNB2_uc001ipz.2_Missense_Mutation_p.D37Y|CACNB2_uc001ipy.2_Missense_Mutation_p.D37Y|CACNB2_uc010qcn.1_Missense_Mutation_p.D43Y|CACNB2_uc010qco.1_Missense_Mutation_p.D43Y|CACNB2_uc001iqa.2_Missense_Mutation_p.D43Y NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 91 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTGGAGGAGGACCGGGAGGC 0.507 NA 11 56 2.81e-09 4.9e-09 1 0 NEBL 10529 broad.mit.edu 37 10 21108419 21108419 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:21108419C>T uc001iqi.2 - 20 2386 c.1989G>A c.(1987-1989)AAG>AAA p.K663K NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 663 Nebulin 18. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 CCGGAGTGGCCTTGTAGTTTT 0.438 NA 32 104 0 0 0 0 ENKUR 219670 broad.mit.edu 37 10 25279433 25279433 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:25279433T>C uc001isg.1 - 4 718 c.553A>G c.(553-555)ATG>GTG p.M185V ENKUR_uc001ish.1_Missense_Mutation_p.M123V NM_145010 NP_659447 Q8TC29 ENKUR_HUMAN enkurin 185 IQ. cilium|flagellum calmodulin binding|SH3 domain binding 0 AGCCTTTTCATAGCTGCTTTC 0.408 NA 22 43 0 0 0 0 YME1L1 10730 broad.mit.edu 37 10 27403474 27403474 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:27403474T>C uc001iti.2 - 19 2336 c.2154A>G c.(2152-2154)GAA>GAG p.E718E YME1L1_uc001itj.2_Silent_p.E661E|YME1L1_uc010qdl.1_Silent_p.E628E|YME1L1_uc009xkv.2_RNA NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 718 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 TTATTTCTTGTTCGATGGCAG 0.328 NA 12 43 0 0 0 0 LYZL2 119180 broad.mit.edu 37 10 30915774 30915774 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:30915774C>G uc001ivk.2 - 2 222 c.209G>C c.(208-210)CGT>CCT p.R70P NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 24 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) CAGTTTGCAACGAGTGTAGAT 0.522 NA 27 49 0 0 0 0 ZEB1 6935 broad.mit.edu 37 10 31815599 31815599 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:31815599G>T uc001ivs.3 + 9 2846 c.2783_splice c.e9-1 p.G928_splice ZEB1_uc001ivr.3_Splice_Site_p.G710_splice|ZEB1_uc010qee.1_Splice_Site_p.G710_splice|ZEB1_uc010qef.1_Splice_Site_p.G710_splice|ZEB1_uc001ivt.3_Splice_Site_p.G710_splice|ZEB1_uc001ivu.3_Splice_Site_p.G929_splice|ZEB1_uc001ivv.3_Splice_Site_p.G908_splice|ZEB1_uc010qeh.1_Splice_Site_p.G861_splice|ZEB1_uc009xlp.2_Splice_Site_p.G912_splice NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) TTATTTTGCAGGTAAAAGACC 0.348 NA 6 19 0.00198382 0.0028924 1 0 PARD3 56288 broad.mit.edu 37 10 34666965 34666965 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:34666965A>T uc010qej.1 - 10 1469 c.1469T>A c.(1468-1470)GTG>GAG p.V490E PARD3_uc010qek.1_Missense_Mutation_p.V490E|PARD3_uc010qel.1_Missense_Mutation_p.V490E|PARD3_uc010qem.1_Missense_Mutation_p.V490E|PARD3_uc010qen.1_Missense_Mutation_p.V490E|PARD3_uc010qeo.1_Missense_Mutation_p.V490E|PARD3_uc010qep.1_Missense_Mutation_p.V446E|PARD3_uc010qeq.1_Missense_Mutation_p.V446E|PARD3_uc001ixo.1_Missense_Mutation_p.V220E|PARD3_uc001ixp.1_Missense_Mutation_p.V355E|PARD3_uc001ixq.1_Missense_Mutation_p.V490E|PARD3_uc001ixr.1_Missense_Mutation_p.V490E|PARD3_uc001ixt.1_Missense_Mutation_p.V311E|PARD3_uc001ixu.1_Missense_Mutation_p.V446E|PARD3_uc001ixs.1_Missense_Mutation_p.V143E NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 490 PDZ 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) AATGTTTTTCACATAGATTGG 0.478 NA 30 86 0 0 0 0 ZNF248 57209 broad.mit.edu 37 10 38121829 38121829 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:38121829C>A uc001izd.1 - 6 953 c.454G>T c.(454-456)GGC>TGC p.G152C ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.G152C NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATAATTAAGCCCGAAATATTT 0.323 NA 21 39 2.46e-09 4.32e-09 1 0 ZNF25 219749 broad.mit.edu 37 10 38242024 38242024 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:38242024T>A uc001ize.1 - 6 507 c.402A>T c.(400-402)ATA>ATT p.I134I ZNF25_uc001izf.1_Silent_p.I98I NM_145011 NP_659448 P17030 ZNF25_HUMAN zinc finger protein 25 134 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) GCTGATGTACTATGAGGGCAG 0.398 NA 43 107 0 0 0 0 RET 5979 broad.mit.edu 37 10 43595965 43595965 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:43595965G>T uc001jal.2 + 2 322 c.132G>T c.(130-132)CAG>CAT p.Q44H RET_uc001jak.1_Missense_Mutation_p.Q44H NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 44 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) ATGTGGACCAGGCAGCCGGCA 0.612 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 19 41 7.21e-19 1.45e-18 1 0 GDF10 2662 broad.mit.edu 37 10 48438504 48438504 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:48438504G>A uc001jfb.2 - 1 663 c.207C>T c.(205-207)CCC>CCT p.P69P GDF10_uc009xnp.2_Silent_p.P69P|GDF10_uc009xnq.1_Silent_p.P69P NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 69 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 CCTGGGCGCTGGGGCCCAACG 0.741 NA 8 14 0 0 0 0 FRMPD2 143162 broad.mit.edu 37 10 49431169 49431169 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:49431169A>T uc001jgi.2 - 11 1420 c.1313T>A c.(1312-1314)CTC>CAC p.L438H FRMPD2_uc001jgh.2_Missense_Mutation_p.L407H|FRMPD2_uc001jgj.2_Missense_Mutation_p.L416H NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 438 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CACTCACTGGAGCAGCCCATA 0.398 NA 30 59 0 0 0 0 ERCC6 2074 broad.mit.edu 37 10 50667067 50667067 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:50667067C>G uc001jhs.3 - 21 4430 c.4276G>C c.(4276-4278)GAC>CAC p.D1426H ERCC6_uc009xod.2_Missense_Mutation_p.D586H|ERCC6_uc010qgr.1_Missense_Mutation_p.D796H|ERCC6_uc001jhr.3_Missense_Mutation_p.D794H NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1426 Ubiquitin-binding domain (UBD). base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 ACCAGAAGGTCATCGTGTTCT 0.527 NA Direct_reversal_of_damage|NER 25 70 0 0 0 0 OGDHL 55753 broad.mit.edu 37 10 50966454 50966454 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:50966454T>A uc001jie.2 - 2 327 c.185A>T c.(184-186)AAC>ATC p.N62I OGDHL_uc009xog.2_Missense_Mutation_p.N89I|OGDHL_uc010qgt.1_Missense_Mutation_p.N62I|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_Intron NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 62 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 ACTCTGGGGGTTTTCCAACCA 0.662 NA 31 92 0 0 0 0 A1CF 29974 broad.mit.edu 37 10 52575947 52575947 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:52575947G>A uc001jjj.2 - 9 1148 c.960C>T c.(958-960)GGC>GGT p.G320G A1CF_uc010qhn.1_Silent_p.G328G|A1CF_uc001jji.2_Silent_p.G320G|A1CF_uc001jjh.2_Silent_p.G328G|A1CF_uc010qho.1_Silent_p.G328G|A1CF_uc009xov.2_Silent_p.G320G NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 320 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 GCAGCATGGTGCCCCTTCCAC 0.517 NA 12 53 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55569197 55569197 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:55569197G>T uc010qhs.1 - 37 5023 c.4628C>A c.(4627-4629)ACA>AAA p.T1543K PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.T1536K|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CTTCCATGTTGTGTATGTAGG 0.398 NA HNSCC(58;0.16) 52 151 1.36e-18 2.74e-18 1 0 PCDH15 65217 broad.mit.edu 37 10 56106245 56106245 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:56106245C>A uc001jju.1 - 6 870 c.475_splice c.e6-1 p.L159_splice PCDH15_uc010qhq.1_Splice_Site_p.L164_splice|PCDH15_uc010qhr.1_Splice_Site_p.L159_splice|PCDH15_uc010qhs.1_Splice_Site_p.L164_splice|PCDH15_uc010qht.1_Splice_Site_p.L159_splice|PCDH15_uc010qhu.1_Splice_Site_p.L159_splice|PCDH15_uc001jjv.1_Splice_Site_p.L137_splice|PCDH15_uc010qhv.1_Splice_Site_p.L159_splice|PCDH15_uc010qhw.1_Splice_Site_p.L159_splice|PCDH15_uc010qhx.1_Splice_Site_p.L159_splice|PCDH15_uc010qhy.1_Splice_Site_p.L164_splice|PCDH15_uc010qhz.1_Splice_Site_p.L159_splice|PCDH15_uc010qia.1_Splice_Site_p.L137_splice|PCDH15_uc010qib.1_Splice_Site_p.L137_splice|PCDH15_uc001jjw.2_Splice_Site_p.L159_splice NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CTGGAGTGAGCTGAAAGGAAA 0.338 NA HNSCC(58;0.16) 34 89 2.27e-22 4.66e-22 1 0 ANK3 288 broad.mit.edu 37 10 62039399 62039399 + Splice_Site SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:62039399T>G uc001jky.2 - 2 307 c.115_splice c.e2-1 p.S39_splice ANK3_uc010qih.1_Splice_Site_p.S22_splice|ANK3_uc001jkz.3_Splice_Site_p.S33_splice|ANK3_uc001jlb.1_Splice_Site NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GGCATCAGACTAAAATAAAAA 0.333 NA 25 64 0 0 0 0 MYPN 84665 broad.mit.edu 37 10 69961674 69961674 + Silent SNP C C A rs139820597 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:69961674C>A uc001jnm.3 + 19 3767 c.3582C>A c.(3580-3582)CGC>CGA p.R1194R MYPN_uc001jnn.3_Silent_p.R919R|MYPN_uc001jno.3_Silent_p.R1194R|MYPN_uc009xpt.2_Silent_p.R1194R|MYPN_uc010qit.1_Silent_p.R900R|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 1194 Interaction with ACTN.|Ig-like 5. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 TGGAGTGCCGCGTGATAGGCA 0.547 NA 34 84 1.57e-10 2.83e-10 1 0 CDH23 64072 broad.mit.edu 37 10 73550138 73550138 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:73550138A>G uc001jrx.3 + 44 6394 c.6017A>G c.(6016-6018)CAG>CGG p.Q2006R NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 2006 Cadherin 19.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CTGGGTGCCCAGAGTGGCCTC 0.632 NA 11 36 0 0 0 0 KIAA0913 23053 broad.mit.edu 37 10 75558105 75558105 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:75558105C>A uc009xrl.2 + 20 4087 c.4055C>A c.(4054-4056)TCC>TAC p.S1352Y KIAA0913_uc001jve.2_Missense_Mutation_p.S1357Y|KIAA0913_uc001jvf.2_Missense_Mutation_p.S1352Y|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.S787Y|KIAA0913_uc010qkr.1_Missense_Mutation_p.S775Y|KIAA0913_uc001jvj.2_Missense_Mutation_p.S775Y|KIAA0913_uc009xrn.1_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 1352 zinc ion binding breast(1) 1 Prostate(51;0.0112) GCAAGAGACTCCAATATGGTG 0.617 NA 20 57 8.01e-06 1.28e-05 1 0 MYST4 23522 broad.mit.edu 37 10 76788996 76788996 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:76788996G>T uc001jwn.1 + 18 4907 c.4414G>T c.(4414-4416)GAG>TAG p.E1472* MYST4_uc001jwo.1_Nonsense_Mutation_p.E1180*|MYST4_uc001jwp.1_Nonsense_Mutation_p.E1289* NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1472 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) CTCGAACCCAGAGGTCTTAAT 0.512 NA T CREBBP AML 21 66 1.11e-12 2.05e-12 1 0 KCNMA1 3778 broad.mit.edu 37 10 78729807 78729807 + Nonsense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:78729807G>C uc001jxn.2 - 20 2462 c.2285C>G c.(2284-2286)TCA>TGA p.S762* KCNMA1_uc001jxj.2_Nonsense_Mutation_p.S708*|KCNMA1_uc001jxk.1_Nonsense_Mutation_p.S380*|KCNMA1_uc009xrt.1_Nonsense_Mutation_p.S553*|KCNMA1_uc001jxl.1_Nonsense_Mutation_p.S387*|KCNMA1_uc001jxo.2_Nonsense_Mutation_p.S704*|KCNMA1_uc001jxm.2_Nonsense_Mutation_p.S704*|KCNMA1_uc001jxq.2_Nonsense_Mutation_p.S707* NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 762 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TGATAGTGTTGACGGCTGCTC 0.483 NA 22 84 0 0 0 0 KCNMA1 3778 broad.mit.edu 37 10 78846339 78846339 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:78846339G>T uc001jxn.2 - 11 1524 c.1347C>A c.(1345-1347)AAC>AAA p.N449K KCNMA1_uc001jxj.2_Missense_Mutation_p.N449K|KCNMA1_uc001jxk.1_Missense_Mutation_p.N64K|KCNMA1_uc009xrt.1_Missense_Mutation_p.N269K|KCNMA1_uc001jxl.1_Missense_Mutation_p.N103K|KCNMA1_uc001jxo.2_Missense_Mutation_p.N449K|KCNMA1_uc001jxm.2_Missense_Mutation_p.N449K|KCNMA1_uc001jxq.2_Missense_Mutation_p.N449K NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 449 RCK N-terminal.|Cytoplasmic (Potential). N -> D (in Ref. 12; AAD31173). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CAAGCTCCAGGTTGGGGGAGA 0.468 NA 16 26 8.6e-14 1.63e-13 1 0 NRG3 10718 broad.mit.edu 37 10 84745231 84745231 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:84745231G>C uc001kco.2 + 9 1988 c.1961G>C c.(1960-1962)AGC>ACC p.S654T NRG3_uc010qlz.1_Missense_Mutation_p.S653T|NRG3_uc001kcp.2_Missense_Mutation_p.S457T|NRG3_uc001kcq.2_Missense_Mutation_p.S304T|NRG3_uc001kcr.2_Missense_Mutation_p.S328T NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 678 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GAACTGGCCAGCGTAGAAACC 0.473 NA 17 26 0 0 0 0 C10orf99 387695 broad.mit.edu 37 10 85944465 85944465 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:85944465C>A uc001kcu.2 + 3 243 c.189C>A c.(187-189)TGC>TGA p.C63* NM_207373 NP_997256 Q6UWK7 CJ099_HUMAN hypothetical protein LOC387695 precursor 63 extracellular region pancreas(1) 1 GTAAACCATGCAAGCTTGAGC 0.577 NA 24 58 1.77e-15 3.45e-15 1 0 FAS 355 broad.mit.edu 37 10 90762893 90762893 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:90762893T>A uc001kfr.2 + 2 484 c.138T>A c.(136-138)ACT>ACA p.T46T FAS_uc010qna.1_RNA|FAS_uc001kfs.2_Silent_p.T46T|FAS_uc001kft.2_Silent_p.T46T|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_Silent_p.T46T|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA NM_000043 NP_000034 P25445 TNR6_HUMAN tumor necrosis factor receptor superfamily, 46 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding upper_aerodigestive_tract(1)|breast(1) 2 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) CAGTTGAGACTCAGAACTTGG 0.443 NA Autoimmune_Lymphoproliferative_syndrome_type_I 27 64 0 0 0 0 TNKS2 80351 broad.mit.edu 37 10 93601155 93601155 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:93601155C>A uc001khp.2 + 15 2086 c.1789C>A c.(1789-1791)CAT>AAT p.H597N NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 597 ANK 12. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) TACACCTTTACATGAAGCAGC 0.323 NA 17 57 2.94e-08 5.05e-08 1 0 CYP2C19 1557 broad.mit.edu 37 10 96535277 96535277 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:96535277G>C uc010qnz.1 + 3 462 c.462G>C c.(460-462)GAG>GAC p.E154D CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.E132D NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 154 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GCCTTGTGGAGGAGTTGAGAA 0.517 NA 39 121 0 0 0 0 ABCC2 1244 broad.mit.edu 37 10 101544522 101544522 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:101544522T>A uc001kqf.2 + 2 330 c.191T>A c.(190-192)CTC>CAC p.L64H NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 64 Cytoplasmic (By similarity). 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) ACCACCAAACTCTATCTTGCT 0.473 NA 28 55 0 0 0 0 ELOVL3 83401 broad.mit.edu 37 10 103988898 103988898 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:103988898A>G uc001kut.2 + 4 865 c.702A>G c.(700-702)GAA>GAG p.E234E NM_152310 NP_689523 Q9HB03 ELOV3_HUMAN elongation of very long chain fatty acids like 234 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding ovary(2) 2 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) CCACGATGGAACACTTATTCT 0.498 NA 15 37 0 0 0 0 PDCD4 27250 broad.mit.edu 37 10 112647635 112647635 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:112647635A>T uc001kzh.2 + 6 1011 c.768A>T c.(766-768)AGA>AGT p.R256S PDCD4_uc001kzg.2_Missense_Mutation_p.R245S|PDCD4_uc010qre.1_Missense_Mutation_p.R242S NM_014456 NP_055271 Q53EL6 PDCD4_HUMAN programmed cell death 4 isoform 1 256 MI 1. apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding ovary(1)|breast(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) ATACTCCTAGAGCACCACAGG 0.353 NA 14 28 0 0 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115608754 115608754 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:115608754A>G uc001law.2 - 2 3028 c.2110T>C c.(2110-2112)TAT>CAT p.Y704H NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 704 cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) ATTTTCTTATAGAATGGACAT 0.378 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 67 136 0 0 0 0 ATRNL1 26033 broad.mit.edu 37 10 117075142 117075142 + Missense_Mutation SNP G G A rs140980345 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:117075142G>A uc001lcg.2 + 18 3319 c.2933G>A c.(2932-2934)CGG>CAG p.R978Q ATRNL1_uc010qsm.1_Missense_Mutation_p.R153Q|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 978 PSI 5.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GGTTCTTCACGGGGACCAATG 0.458 NA 27 67 0 0 0 0 KCNK18 338567 broad.mit.edu 37 10 118957144 118957144 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:118957144G>T uc010qsr.1 + 1 145 c.145G>T c.(145-147)GTC>TTC p.V49F NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 49 integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) GGACGGCCAGGTCCTGGTGGC 0.572 NA 16 49 3.46e-05 5.44e-05 1 0 HTRA1 5654 broad.mit.edu 37 10 124266322 124266322 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:124266322G>T uc001lgj.2 + 4 1021 c.893G>T c.(892-894)AGC>ATC p.S298I NM_002775 NP_002766 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 precursor 298 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity 0 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) GGGATCGTGAGCACCACCCAG 0.622 NA 25 75 8.25e-16 1.62e-15 1 0 DMBT1 1755 broad.mit.edu 37 10 124339216 124339216 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:124339216G>A uc001lgk.1 + 10 908 c.802G>A c.(802-804)GCC>ACC p.A268T DMBT1_uc001lgl.1_Missense_Mutation_p.A268T|DMBT1_uc001lgm.1_Missense_Mutation_p.A268T|DMBT1_uc009xzz.1_Missense_Mutation_p.A268T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.A120T NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 268 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CACCAATGATGCCAATGTGGT 0.607 NA 139 346 0 0 0 0 C10orf120 399814 broad.mit.edu 37 10 124457725 124457725 + Missense_Mutation SNP C C T rs148798284 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:124457725C>T uc001lgn.2 - 3 564 c.532G>A c.(532-534)GGA>AGA p.G178R NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN hypothetical protein LOC399814 178 kidney(1) 1 all_neural(114;0.169)|Glioma(114;0.222) TGATGATTTCCCAGAGCCCGA 0.502 NA 35 85 0 0 0 0 C10orf88 80007 broad.mit.edu 37 10 124708266 124708266 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:124708266T>A uc001lgw.2 - 4 772 c.547A>T c.(547-549)AGG>TGG p.R183W C10orf88_uc001lgx.2_Missense_Mutation_p.R85W NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 183 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) AGGTCTATCCTTGATCCTAGA 0.458 NA 28 33 0 0 0 0 DOCK1 1793 broad.mit.edu 37 10 129224216 129224216 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:129224216G>A uc001ljt.2 + 47 4856 c.4792G>A c.(4792-4794)GAG>AAG p.E1598K DOCK1_uc010qun.1_Missense_Mutation_p.E1619K|DOCK1_uc009yaq.2_Missense_Mutation_p.E593K NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1598 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CGAGAGGATGGAGGCCTGTTT 0.507 NA 71 152 0 0 0 0 PHRF1 57661 broad.mit.edu 37 11 608998 608998 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:608998G>T uc001lqe.2 + 14 3673 c.3542G>T c.(3541-3543)CGT>CTT p.R1181L PHRF1_uc010qwc.1_Missense_Mutation_p.R1180L|PHRF1_uc010qwd.1_Missense_Mutation_p.R1179L|PHRF1_uc010qwe.1_Missense_Mutation_p.R1177L|PHRF1_uc009ybz.1_Missense_Mutation_p.R971L|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1181 Arg-rich. RNA polymerase binding|zinc ion binding 0 CCTCGGTCCCGTGAGAAGTGG 0.706 NA 4 13 0.00024832 0.000374451 1 0 MUC6 4588 broad.mit.edu 37 11 1017714 1017714 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:1017714G>T uc001lsw.2 - 31 5138 c.5087C>A c.(5086-5088)TCA>TAA p.S1696* NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1696 Thr-rich.|1; truncated.|Approximate repeats. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAAGTGTGTGAATGTAGGGA 0.557 NA 61 736 1.44e-28 3.02e-28 1 0 TSPAN32 10077 broad.mit.edu 37 11 2335755 2335755 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:2335755G>C uc001lvy.1 + 6 634 c.497G>C c.(496-498)GGG>GCG p.G166A TSPAN32_uc001lvx.1_Silent_p.G209G|TSPAN32_uc009ydk.1_Missense_Mutation_p.G176A|TSPAN32_uc010qxk.1_Missense_Mutation_p.G201A|TSPAN32_uc009ydl.1_RNA|TSPAN32_uc001lvz.1_Missense_Mutation_p.G136A|TSPAN32_uc001lwb.1_Missense_Mutation_p.G136A|TSPAN32_uc001lwc.1_Missense_Mutation_p.G111A|TSPAN32_uc001lwd.1_5'Flank NM_139022 NP_620591 Q96QS1 TSN32_HUMAN tumor-suppressing subtransferable candidate 6 166 cell-cell signaling integral to membrane central_nervous_system(1) 1 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AGCCGTCTGGGGAGCACAGAG 0.647 NA 3 10 0 0 0 0 ART1 417 broad.mit.edu 37 11 3681167 3681167 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:3681167C>A uc001lye.1 + 3 519 c.418C>A c.(418-420)CGC>AGC p.R140S ART1_uc009yeb.1_Missense_Mutation_p.R140S NM_004314 NP_004305 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 precursor 140 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) TGAGGCGGGCCGCTCCCGGGC 0.667 NA 24 40 2.4e-15 4.64e-15 1 0 OR52I2 143502 broad.mit.edu 37 11 4608507 4608507 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:4608507C>T uc010qyh.1 + 1 465 c.465C>T c.(463-465)GCC>GCT p.A155A NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 155 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTATGTAGCCATCTGCAAGC 0.488 NA 7 76 0 0 0 0 OR52I1 390037 broad.mit.edu 37 11 4615655 4615655 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:4615655C>T uc010qyi.1 + 1 387 c.387C>T c.(385-387)GCC>GCT p.A129A NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTATGTAGCCATCTGCAAGC 0.498 NA 17 34 0 0 0 0 OR51V1 283111 broad.mit.edu 37 11 5221348 5221348 + Missense_Mutation SNP G G A rs151191536 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:5221348G>A uc010qyz.1 - 1 583 c.583C>T c.(583-585)CGC>TGC p.R195C NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGCTAAGCGGAGAAGATCC 0.398 NA 11 39 0 0 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443437 5443437 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:5443437C>A uc010qzd.1 + 1 7 c.7C>A c.(7-9)CAG>AAG p.Q3K HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTCATGTCCCAGGTGACTAA 0.448 NA 36 77 7.11e-15 1.37e-14 1 0 OR56B1 387748 broad.mit.edu 37 11 5758078 5758078 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:5758078A>G uc001mbt.1 + 1 332 c.332A>G c.(331-333)TAT>TGT p.Y111C TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.Y111C|OR56B1_uc009yev.1_Missense_Mutation_p.Y111C NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GCTCAGATTTATGCCATTCAC 0.458 NA 9 32 0 0 0 0 OR52B2 255725 broad.mit.edu 37 11 6191434 6191434 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:6191434G>T uc010qzy.1 - 1 123 c.123C>A c.(121-123)GTC>GTA p.V41V NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTTTCCCAGGACTGCAGTGA 0.478 NA 22 71 7.45e-12 1.37e-11 1 0 SPTY2D1 144108 broad.mit.edu 37 11 18637522 18637522 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:18637522G>T uc001moy.2 - 3 515 c.299C>A c.(298-300)CCT>CAT p.P100H SPTY2D1_uc010rdi.1_Missense_Mutation_p.P100H NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 100 breast(1) 1 TTCCTCAATAGGAATCCCATT 0.433 NA 54 87 1.03e-37 2.2e-37 1 0 NAV2 89797 broad.mit.edu 37 11 20065574 20065574 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:20065574T>C uc010rdm.1 + 14 3385 c.3024T>C c.(3022-3024)TCT>TCC p.S1008S NAV2_uc001mpp.2_Silent_p.S921S|NAV2_uc001mpr.3_Silent_p.S985S|NAV2_uc001mpt.2_Silent_p.S71S|NAV2_uc009yhx.2_Silent_p.S71S|NAV2_uc009yhy.1_5'UTR NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1008 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CCCTGTGGTCTGGTGATGATG 0.527 NA 24 64 0 0 0 0 NAV2 89797 broad.mit.edu 37 11 20066745 20066746 + Missense_Mutation DNP GC GC TT rs140697093 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:20066745_20066746GC>TT uc010rdm.1 + 15 3861_3862 c.3500_3501GC>TT c.(3499-3501)AGC>ATT p.S1167I NAV2_uc001mpp.2_Missense_Mutation_p.S1080I|NAV2_uc001mpr.3_Missense_Mutation_p.S1144I|NAV2_uc001mpt.2_Missense_Mutation_p.S230I|NAV2_uc009yhx.2_Missense_Mutation_p.S230I|NAV2_uc009yhy.1_Missense_Mutation_p.S143I NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1167 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 ACTGTCACCAGCAGGTCAGCCA 0.574 NA 19 79 0 0 0 0 SLC6A5 9152 broad.mit.edu 37 11 20623176 20623176 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:20623176G>T uc001mqd.2 + 2 778 c.505G>T c.(505-507)GTG>TTG p.V169L SLC6A5_uc009yic.2_5'UTR NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 169 Cytoplasmic (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) AATCACGTCCGTGCTCCCGGG 0.652 NA 12 31 6.4e-05 9.89e-05 1 0 SLC17A6 57084 broad.mit.edu 37 11 22364872 22364872 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:22364872T>G uc001mqk.2 + 3 832 c.419T>G c.(418-420)ATT>AGT p.I140S NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 140 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 ATCACTCAGATTCCGGGAGGC 0.577 NA 28 65 0 0 0 0 KCNA4 3739 broad.mit.edu 37 11 30033418 30033418 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:30033418G>A uc001msk.2 - 2 1960 c.808C>T c.(808-810)CGG>TGG p.R270W NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 270 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCGTCCTCCCGAAACTTCAAC 0.512 NA 22 59 0 0 0 0 CKAP5 9793 broad.mit.edu 37 11 46822845 46822845 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:46822845T>C uc001ndi.1 - 9 1098 c.988A>G c.(988-990)AAG>GAG p.K330E CKAP5_uc009ylg.1_Missense_Mutation_p.K216E|CKAP5_uc001ndj.1_Missense_Mutation_p.K330E NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 330 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 TTGGTGTCCTTTCCAACAACC 0.393 NA 16 33 0 0 0 0 OR4A16 81327 broad.mit.edu 37 11 55110887 55110887 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55110887T>C uc010rie.1 + 1 211 c.211T>C c.(211-213)TAT>CAT p.Y71H NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 GGATGCCATATATTCCACTGC 0.453 NA 44 111 0 0 0 0 OR4C15 81309 broad.mit.edu 37 11 55322574 55322574 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55322574C>T uc010rig.1 + 1 792 c.792C>T c.(790-792)TTC>TTT p.F264F NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TCATAAACTTCTCCTTGTTGC 0.483 NA HNSCC(20;0.049) 28 89 0 0 0 0 OR4S2 219431 broad.mit.edu 37 11 55419304 55419304 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55419304A>G uc001nhs.1 + 1 925 c.925A>G c.(925-927)AAA>GAA p.K309E NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) CTTGGAGGCTAAAGGGAAATA 0.249 NA 49 119 0 0 0 0 OR4C6 219432 broad.mit.edu 37 11 55433323 55433323 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55433323C>A uc001nht.3 + 3 946 c.681C>A c.(679-681)AGC>AGA p.S227R OR4C6_uc010rik.1_Missense_Mutation_p.S227R NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 AGTCTTACAGCTCTAAAGGGC 0.498 NA 37 99 4.11e-13 7.7e-13 1 0 OR4C6 219432 broad.mit.edu 37 11 55433552 55433552 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55433552G>T uc001nht.3 + 3 1175 c.910G>T c.(910-912)GAG>TAG p.E304* OR4C6_uc010rik.1_Nonsense_Mutation_p.E304* NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GATGAAATGGGAGGCTTTGGC 0.408 NA 7 36 1.07e-07 1.81e-07 1 0 OR5D16 390144 broad.mit.edu 37 11 55606250 55606250 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55606250C>A uc010rio.1 + 1 23 c.23C>A c.(22-24)ACG>AAG p.T8K NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) GAGAGAAATACGACATCTGAG 0.413 NA 22 42 1.37e-18 2.75e-18 1 0 OR5D16 390144 broad.mit.edu 37 11 55607036 55607036 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55607036G>T uc010rio.1 + 1 809 c.809G>T c.(808-810)AGG>ATG p.R270M NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) AAAAACTCCAGGCACACAGTC 0.493 NA 21 67 3.62e-10 6.48e-10 1 0 SPRYD5 84767 broad.mit.edu 37 11 55653181 55653181 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55653181T>C uc010rip.1 + 2 369 c.277T>C c.(277-279)TGT>CGT p.C93R SPRYD5_uc010riq.1_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 93 B box-type. intracellular zinc ion binding 0 all_epithelial(135;0.226) GGAGCAAATATGTGGGATGCA 0.488 NA 5 44 0 0 0 0 SPRYD5 84767 broad.mit.edu 37 11 55658953 55658953 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55658953G>T uc010rip.1 + 7 1296 c.1204G>T c.(1204-1206)GTT>TTT p.V402F SPRYD5_uc010riq.1_Missense_Mutation_p.V259F NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 402 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) GGTGCAATATGTTCCAAGACC 0.458 NA 23 65 2.45e-14 4.67e-14 1 0 OR8H3 390152 broad.mit.edu 37 11 55890065 55890065 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55890065A>G uc001nii.1 + 1 217 c.217A>G c.(217-219)AGT>GGT p.S73G NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TATTGACCTCAGTTACTCAAC 0.443 NA 85 224 0 0 0 0 OR8H3 390152 broad.mit.edu 37 11 55890212 55890212 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55890212C>G uc001nii.1 + 1 364 c.364C>G c.(364-366)CGC>GGC p.R122G NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) GGCCTATGATCGCTATGCAGC 0.463 NA 56 159 0 0 0 0 OR5J2 282775 broad.mit.edu 37 11 55944846 55944846 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55944846C>A uc010rjb.1 + 1 753 c.753C>A c.(751-753)TTC>TTA p.F251L NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TGACCATATTCTATGGTACCT 0.453 NA 34 92 2.68e-12 4.94e-12 1 0 OR5T2 219464 broad.mit.edu 37 11 55999944 55999944 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55999944A>T uc010rjc.1 - 1 718 c.718T>A c.(718-720)TAC>AAC p.Y240N NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 240 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CCCACAAAGTAGAAGAGTAGA 0.438 NA 35 100 0 0 0 0 OR8K3 219473 broad.mit.edu 37 11 56085963 56085963 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:56085963T>C uc010rjf.1 + 1 181 c.181T>C c.(181-183)TTT>CTT p.F61L NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) CCCTATGTACTTTTTTCTCAG 0.383 NA 9 180 0 0 0 0 OR5R1 219479 broad.mit.edu 37 11 56185379 56185379 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:56185379A>T uc010rji.1 - 1 330 c.330T>A c.(328-330)ACT>ACA p.T110T NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GGAAACACTCAGTGATCATGA 0.453 NA 15 37 0 0 0 0 OR5M3 219482 broad.mit.edu 37 11 56237806 56237807 + Missense_Mutation DNP GG GG TT TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:56237806_56237807GG>TT uc010rjk.1 - 1 167_168 c.167_168CC>AA c.(166-168)CCC>CAA p.P56Q NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 56 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AAAAGTACATGGGGTTGTTAAG 0.396 NA 18 44 0 0 0 0 OR5M1 390168 broad.mit.edu 37 11 56380486 56380486 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:56380486G>C uc001nja.1 - 1 493 c.493C>G c.(493-495)CAC>GAC p.H165D NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AAGGATAAGTGAAAGGTTAGC 0.463 NA 20 39 0 0 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799168 57799168 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:57799168C>A uc010rjz.1 + 1 744 c.744C>A c.(742-744)CAC>CAA p.H248Q OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 248 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) GTGCAGCTCACCTGACTGTGG 0.512 NA 52 139 2.15e-31 4.52e-31 1 0 OR1S2 219958 broad.mit.edu 37 11 57970690 57970690 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:57970690T>C uc010rkb.1 - 1 964 c.964A>G c.(964-966)ATT>GTT p.I322V NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 322 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) AGGGAAGAAATTTTTCTATTG 0.418 NA 55 97 0 0 0 0 GLYATL1 92292 broad.mit.edu 37 11 58714591 58714591 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:58714591C>A uc001nnf.2 + 4 407 c.31C>A c.(31-33)CTG>ATG p.L11M uc001nng.1_Intron|GLYATL1_uc001nnh.1_Intron|GLYATL1_uc001nni.1_Missense_Mutation_p.L11M|GLYATL1_uc001nnj.1_Missense_Mutation_p.L11M Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 11 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) CCATAAGCTGCTGGCCCTATA 0.478 NA 14 28 1.58e-08 2.73e-08 1 0 MS4A3 932 broad.mit.edu 37 11 59829952 59829952 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:59829952C>A uc001nom.2 + 3 296 c.168C>A c.(166-168)ATC>ATA p.I56I MS4A3_uc001non.2_Intron|MS4A3_uc001noo.2_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 56 Helical; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) CCATCCAGATCCTGAATGCAG 0.423 NA 30 80 1.31e-18 2.64e-18 1 0 AHNAK 79026 broad.mit.edu 37 11 62289778 62289778 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:62289778G>C uc001ntl.2 - 5 12411 c.12111C>G c.(12109-12111)ATC>ATG p.I4037M AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4037 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGGGCCCTTGATGTCAACTT 0.493 NA 92 249 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62298691 62298691 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:62298691C>G uc001ntl.2 - 5 3498 c.3198G>C c.(3196-3198)AAG>AAC p.K1066N AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1066 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GCAAAGACATCTTAGGAGCTC 0.443 NA 23 106 0 0 0 0 PLCB3 5331 broad.mit.edu 37 11 64022704 64022704 + Splice_Site SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:64022704A>T uc001nzb.2 + 5 388 c.388_splice c.e5-2 p.V130_splice PLCB3_uc009ypg.1_Splice_Site_p.V130_splice|PLCB3_uc009yph.1_Splice_Site_p.V63_splice|PLCB3_uc009ypi.2_Splice_Site_p.V130_splice NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 CTGGCCCCCCAGGTCTGGTCT 0.627 NA 8 10 0 0 0 0 NRXN2 9379 broad.mit.edu 37 11 64390225 64390225 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:64390225C>A uc001oap.2 - 6 1546 c.1035G>T c.(1033-1035)CAG>CAT p.Q345H NRXN2_uc001oar.2_Missense_Mutation_p.Q1391H|NRXN2_uc001oas.2_Missense_Mutation_p.Q1321H|NRXN2_uc001oao.2_Missense_Mutation_p.Q31H|NRXN2_uc001oaq.2_Missense_Mutation_p.Q1058H NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 345 Extracellular (Potential). cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 GGGGCCTCACCTGGGTGGTGC 0.488 NA 13 62 0.00185496 0.00272211 1 0 CDC42EP2 10435 broad.mit.edu 37 11 65088571 65088571 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:65088571A>G uc001odl.2 + 2 652 c.202A>G c.(202-204)ACC>GCC p.T68A NM_006779 NP_006770 O14613 BORG1_HUMAN Cdc42 effector protein 2 68 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity 0 CCTGCCGGGGACCATGGTGGA 0.647 NA 24 54 0 0 0 0 PACS1 55690 broad.mit.edu 37 11 66003368 66003368 + Splice_Site SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:66003368G>A uc001oha.1 + 19 2342 c.2208_splice c.e19-1 p.F736_splice PACS1_uc010rou.1_Splice_Site_p.F272_splice NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 TCTCCCAACAGCCCTGATGAA 0.532 NA 37 115 0 0 0 0 RBM14 10432 broad.mit.edu 37 11 66392979 66392979 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:66392979A>T uc001oit.2 + 2 1771 c.1632A>T c.(1630-1632)CCA>CCT p.P544P RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron NM_006328 NP_006319 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 544 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity ovary(2)|central_nervous_system(1) 3 GCGGCCAGCCAGGCAATGCCT 0.657 NA 20 46 0 0 0 0 CORO1B 57175 broad.mit.edu 37 11 67206199 67206199 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:67206199G>T uc001olj.1 - 9 1323 c.1287C>A c.(1285-1287)CCC>CCA p.P429P PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Silent_p.P429P|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Silent_p.P429P NM_020441 NP_065174 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 429 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding large_intestine(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) TGGTGGAGGCGGGGGCCCCTA 0.716 NA 3 7 1.24e-05 1.96e-05 1 0 CPT1A 1374 broad.mit.edu 37 11 68571469 68571469 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:68571469C>A uc001oog.3 - 5 724 c.554G>T c.(553-555)AGG>ATG p.R185M CPT1A_uc001oof.3_Missense_Mutation_p.R185M|CPT1A_uc009ysj.2_Missense_Mutation_p.R185M NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 185 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CACACCTACCCTGTTCACAGT 0.512 NA 21 44 3.88e-16 7.61e-16 1 0 SLCO2B1 11309 broad.mit.edu 37 11 74911282 74911282 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:74911282A>G uc001owb.2 + 11 2000 c.1613A>G c.(1612-1614)AAC>AGC p.N538S SLCO2B1_uc010rrq.1_Missense_Mutation_p.N283S|SLCO2B1_uc010rrr.1_Missense_Mutation_p.N394S|SLCO2B1_uc010rrs.1_Missense_Mutation_p.N422S|SLCO2B1_uc001owc.2_Missense_Mutation_p.N311S|SLCO2B1_uc001owd.2_Missense_Mutation_p.N516S NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 538 Extracellular (Potential).|Kazal-like. sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) TTCTACACCAACTGCAGCTGC 0.622 NA 19 87 0 0 0 0 PCF11 51585 broad.mit.edu 37 11 82880066 82880066 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:82880066C>T uc001ozx.3 + 8 3034 c.2689C>T c.(2689-2691)CAG>TAG p.Q897* PCF11_uc010rsu.1_Nonsense_Mutation_p.Q1028* NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 897 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 ACCTCATGGTCAGCCTGTGGG 0.552 NA 20 38 0 0 0 0 CREBZF 58487 broad.mit.edu 37 11 85375697 85375697 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:85375697C>A uc001pas.2 - 1 486 c.223G>T c.(223-225)GTG>TTG p.V75L CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA NM_001039618 NP_001034707 Q9NS37 ZHANG_HUMAN HCF-binding transcription factor Zhangfei 75 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) GGCGCGCGCACGGCCACGCCG 0.706 NA 38 76 2.05e-20 4.17e-20 1 0 SYTL2 54843 broad.mit.edu 37 11 85420476 85420476 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:85420476T>A uc010rth.1 - 12 2174 c.1898A>T c.(1897-1899)CAG>CTG p.Q633L SYTL2_uc010rtg.1_Missense_Mutation_p.Q634L|SYTL2_uc010rti.1_Missense_Mutation_p.Q609L|SYTL2_uc010rtj.1_Missense_Mutation_p.Q601L|SYTL2_uc001pav.2_Missense_Mutation_p.Q75L|SYTL2_uc010rte.1_Missense_Mutation_p.Q35L|SYTL2_uc001pax.2_Missense_Mutation_p.Q75L|SYTL2_uc001paz.2_5'UTR|SYTL2_uc001pba.2_Missense_Mutation_p.Q18L|SYTL2_uc001pay.2_Missense_Mutation_p.Q64L|SYTL2_uc001paw.2_Missense_Mutation_p.Q35L|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Missense_Mutation_p.Q931L|SYTL2_uc001pbb.2_Missense_Mutation_p.Q971L|SYTL2_uc001pbc.2_Missense_Mutation_p.Q955L|SYTL2_uc010rtf.1_Missense_Mutation_p.Q451L NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 633 C2 1. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) AATTGCAAACTGAATATTTCC 0.413 NA 25 65 0 0 0 0 UBTFL1 642623 broad.mit.edu 37 11 89819843 89819843 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:89819843G>A uc010rub.1 + 1 726 c.726G>A c.(724-726)ATG>ATA p.M242I NM_001143975 NP_001137447 P0CB47 UBFL1_HUMAN upstream binding transcription factor, RNA 242 HMG box 2. multicellular organismal development cytoplasm|nucleus DNA binding 0 GTAAAGAGATGCAACATTTGT 0.483 NA 50 101 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92531613 92531613 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:92531613G>C uc001pdj.3 + 9 5451 c.5434G>C c.(5434-5436)GTG>CTG p.V1812L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1812 Cadherin 16.|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) TGCTCTGCTTGTGTATCAGAT 0.478 NA TCGA Ovarian(4;0.039) 10 23 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92533403 92533403 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:92533403C>G uc001pdj.3 + 9 7241 c.7224C>G c.(7222-7224)CCC>CCG p.P2408P NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2408 Cadherin 22.|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) AATTAGCCCCCCGGGGCCATT 0.443 NA TCGA Ovarian(4;0.039) 42 89 0 0 0 0 TRPC6 7225 broad.mit.edu 37 11 101344380 101344380 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:101344380C>G uc001pgk.3 - 7 2294 c.1869G>C c.(1867-1869)CTG>CTC p.L623L TRPC6_uc009ywy.2_Silent_p.L507L|TRPC6_uc009ywz.1_Silent_p.L568L NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 623 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GTGATATCTGCAGAGGTCCAA 0.348 NA 17 60 0 0 0 0 KIAA1377 57562 broad.mit.edu 37 11 101834193 101834193 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:101834193T>C uc001pgm.2 + 6 2697 c.2427T>C c.(2425-2427)AAT>AAC p.N809N KIAA1377_uc001pgn.2_Silent_p.N765N|KIAA1377_uc010run.1_Silent_p.N610N|KIAA1377_uc009yxa.1_Silent_p.N610N NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 809 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CTACATCAAATATTAGAAGTG 0.348 NA 9 28 0 0 0 0 MMP20 9313 broad.mit.edu 37 11 102477375 102477375 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:102477375G>C uc001phc.2 - 6 857 c.844C>G c.(844-846)CTG>GTG p.L282V NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 282 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) GCATGGGGCAGAGTGGGCTTC 0.522 NA 19 47 0 0 0 0 DDI1 414301 broad.mit.edu 37 11 103908508 103908508 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:103908508A>G uc001phr.2 + 1 1201 c.958A>G c.(958-960)ATA>GTA p.I320V PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 320 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CTCTTTCTCCATACTTGAGGA 0.453 NA 32 60 0 0 0 0 KBTBD3 143879 broad.mit.edu 37 11 105925058 105925058 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:105925058C>A uc001pja.2 - 4 998 c.358G>T c.(358-360)GAT>TAT p.D120Y KBTBD3_uc001pjb.2_Missense_Mutation_p.D120Y|KBTBD3_uc009yxm.2_Missense_Mutation_p.D41Y NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 116 ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TCCACATTATCATCTGTTATT 0.328 NA 8 25 0.00307968 0.00445776 1 0 CWF19L2 143884 broad.mit.edu 37 11 107224343 107224343 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:107224343C>A uc010rvp.1 - 13 2022 c.1992G>T c.(1990-1992)GAG>GAT p.E664D CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 664 Potential. catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) GACTCCGATGCTCAGCAATAG 0.413 NA 24 53 2.22e-12 4.09e-12 1 0 ZBTB16 7704 broad.mit.edu 37 11 113934661 113934661 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:113934661C>G uc001pop.2 + 2 903 c.639C>G c.(637-639)CTC>CTG p.L213L ZBTB16_uc001poo.1_Silent_p.L213L|ZBTB16_uc001poq.2_Silent_p.L213L NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 213 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GACAGTCTCTCCTGCAGGGAA 0.597 NA 15 33 0 0 0 0 FAM55A 120400 broad.mit.edu 37 11 114401134 114401134 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:114401134C>T uc001ppa.2 - 3 587 c.170G>A c.(169-171)GGC>GAC p.G57D FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.G199D NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 199 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) TTTATCATAGCCTTGGTTCCT 0.498 NA 21 61 0 0 0 0 CADM1 23705 broad.mit.edu 37 11 115080341 115080341 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:115080341G>T uc001ppi.3 - 8 1160 c.1031C>A c.(1030-1032)ACC>AAC p.T344N CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Missense_Mutation_p.T96N NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 344 Extracellular (Potential). PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) ggtggtggtggtggttgttgt 0.274 NA 14 38 4.38e-07 7.3e-07 1 0 DSCAML1 57453 broad.mit.edu 37 11 117303127 117303127 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:117303127G>C uc001prh.1 - 30 5302 c.5300C>G c.(5299-5301)CCA>CGA p.P1767R NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1707 Cytoplasmic (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) GATGAGGGTTGGGTGGTGCAA 0.577 NA 14 35 0 0 0 0 DSCAML1 57453 broad.mit.edu 37 11 117332289 117332289 + Missense_Mutation SNP C C A rs142275732 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:117332289C>A uc001prh.1 - 18 3471 c.3469G>T c.(3469-3471)GTC>TTC p.V1157F NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1097 Fibronectin type-III 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) AGGGCCCGGACGTTCTCAGGG 0.612 NA 17 47 2.46e-09 4.32e-09 1 0 MLL 4297 broad.mit.edu 37 11 118347536 118347536 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:118347536C>A uc001pta.2 + 4 3196 c.3173C>A c.(3172-3174)TCA>TAA p.S1058* MLL_uc001ptb.2_Nonsense_Mutation_p.S1058*|MLL_uc001ptd.1_Nonsense_Mutation_p.S50* NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1058 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GAAAGTGACTCATCAGAGACC 0.438 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 21 62 4.63e-17 9.15e-17 1 0 THY1 7070 broad.mit.edu 37 11 119290994 119290994 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:119290994G>T uc001pwq.2 - 2 174 c.140C>A c.(139-141)CCC>CAC p.P47H uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Missense_Mutation_p.P47H|THY1_uc001pws.2_RNA NM_006288 NP_006279 P04216 THY1_HUMAN Thy-1 cell surface antigen preproprotein 47 Ig-like V-type. angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) GTACTGGATGGGTGAACTGCT 0.587 NA 38 96 1.5e-21 3.06e-21 1 0 POU2F3 25833 broad.mit.edu 37 11 120180221 120180221 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:120180221C>A uc001pxc.2 + 10 1096 c.994C>A c.(994-996)CGA>AGA p.R332R POU2F3_uc010rzk.1_Silent_p.R286R|POU2F3_uc010rzl.1_Silent_p.R262R|POU2F3_uc001pxe.1_Silent_p.R117R NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor 332 Homeobox. negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding p.R332*(1) ovary(1)|skin(1) 2 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GTTCTGCAACCGACGCCAAAA 0.557 NA 19 41 1.34e-09 2.36e-09 1 0 TECTA 7007 broad.mit.edu 37 11 120998532 120998532 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:120998532G>T uc010rzo.1 + 8 1846 c.1846G>T c.(1846-1848)GAC>TAC p.D616Y NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 616 TIL 1. 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) CACATGCTCCGACCTGACGGC 0.642 NA 26 70 1.55e-18 3.12e-18 1 0 SORL1 6653 broad.mit.edu 37 11 121495940 121495940 + Missense_Mutation SNP G G C rs149393026 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:121495940G>C uc001pxx.2 + 46 6398 c.6318G>C c.(6316-6318)CAG>CAC p.Q2106H SORL1_uc010rzp.1_Missense_Mutation_p.Q952H|SORL1_uc010rzq.1_Missense_Mutation_p.Q721H NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 2106 Extracellular (Potential).|Fibronectin type-III 6. 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) TTGGCAACCAGATCTGTGGGG 0.468 NA 23 70 0 0 0 0 OR6X1 390260 broad.mit.edu 37 11 123624645 123624645 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:123624645T>A uc010rzy.1 - 1 582 c.582A>T c.(580-582)GAA>GAT p.E194D NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CGCCCAGGAGTTCCAAAATGC 0.438 NA 28 70 0 0 0 0 OR8B3 390271 broad.mit.edu 37 11 124266529 124266529 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:124266529G>A uc010saj.1 - 1 719 c.719C>T c.(718-720)ACT>ATT p.T240I OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AGAGCTACAAGTACTGAAGGC 0.383 NA 24 92 0 0 0 0 OR8B8 26493 broad.mit.edu 37 11 124310451 124310451 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:124310451G>A uc010sal.1 - 1 531 c.531C>T c.(529-531)TAC>TAT p.Y177Y NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGTCACACATGTAGTGGTTGA 0.502 NA 26 54 0 0 0 0 ROBO4 54538 broad.mit.edu 37 11 124756439 124756439 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:124756439G>C uc001qbg.2 - 16 2855 c.2715C>G c.(2713-2715)CAC>CAG p.H905Q ROBO4_uc010sas.1_Missense_Mutation_p.H760Q|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Missense_Mutation_p.H463Q NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 905 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCCGGGCAAAGTGAGCATCAG 0.602 NA 13 51 0 0 0 0 ROBO4 54538 broad.mit.edu 37 11 124765699 124765699 + Silent SNP C C G rs143848676 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:124765699C>G uc001qbg.2 - 5 929 c.789G>C c.(787-789)GCG>GCC p.A263A ROBO4_uc010sas.1_Silent_p.A118A|ROBO4_uc001qbh.2_Silent_p.A153A|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 263 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TGAGCCACACCGCCGGTCTAG 0.597 NA 36 46 0 0 0 0 SNX19 399979 broad.mit.edu 37 11 130773227 130773227 + Silent SNP T T C rs138603150 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:130773227T>C uc001qgk.3 - 8 3044 c.2496A>G c.(2494-2496)CTA>CTG p.L832L SNX19_uc009zcw.2_Silent_p.L69L|SNX19_uc010sce.1_Silent_p.L212L|SNX19_uc010scf.1_Silent_p.L275L|SNX19_uc010scg.1_Silent_p.L69L NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 832 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) ACTGTTCTGTTAGTAGCAAGA 0.448 NA 12 34 0 0 0 0 IGSF9B 22997 broad.mit.edu 37 11 133794770 133794770 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:133794770G>T uc001qgx.3 - 15 2295 c.2064C>A c.(2062-2064)GCC>GCA p.A688A IGSF9B_uc001qgy.1_Silent_p.A530A NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 688 Fibronectin type-III 2.|Extracellular (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCTGCATGACGGCCAGAACCC 0.577 NA 37 134 3.09e-21 6.31e-21 1 0 WNT5B 81029 broad.mit.edu 37 12 1755062 1755062 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:1755062G>T uc009zdq.2 + 5 966 c.724G>T c.(724-726)GGG>TGG p.G242W WNT5B_uc001qjj.2_Missense_Mutation_p.G242W|WNT5B_uc001qjk.2_Missense_Mutation_p.G242W|WNT5B_uc001qjl.2_Missense_Mutation_p.G242W NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, 242 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) CCGCAAGGTCGGGGACCGGCT 0.662 NA 28 50 6.13e-19 1.24e-18 1 0 CD163 9332 broad.mit.edu 37 12 7653975 7653975 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:7653975C>G uc001qsz.3 - 3 345 c.217G>C c.(217-219)GGA>CGA p.G73R CD163_uc001qta.3_Missense_Mutation_p.G73R|CD163_uc009zfw.2_Missense_Mutation_p.G73R NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 73 SRCR 1.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CACACCGTTCCCCACTCCTCC 0.502 NA 36 95 0 0 0 0 RIMKLB 57494 broad.mit.edu 37 12 8866600 8866600 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:8866600G>T uc001quu.2 + 2 389 c.138G>T c.(136-138)ATG>ATT p.M46I RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.M46I|RIMKLB_uc010sgl.1_Missense_Mutation_p.M46I|RIMKLB_uc001quw.2_Missense_Mutation_p.M46I NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 46 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 CTGTGGTGATGGATGAGGTGG 0.428 NA 17 26 5.01e-05 7.78e-05 1 0 PRH1 5554 broad.mit.edu 37 12 11034876 11034876 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:11034876C>A uc001qzc.2 - 8 1047 c.459G>T c.(457-459)GGG>GGT p.G153G PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_RNA|PRB4_uc001qzf.1_Intron NM_006250 NP_006241 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 1 153 extracellular space protein binding 0 BRCA - Breast invasive adenocarcinoma(232;0.245) GTGGGCGGCCCCCTTGGGGAG 0.587 NA 32 107 4.76e-42 1.01e-41 1 0 GUCY2C 2984 broad.mit.edu 37 12 14796620 14796620 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:14796620G>T uc001rcd.2 - 17 1955 c.1818C>A c.(1816-1818)TCC>TCA p.S606S NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 606 Cytoplasmic (Potential).|Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 CTGTCTTACTGGAGTGCAGAT 0.373 NA 20 89 2.38e-13 4.46e-13 1 0 PIK3C2G 5288 broad.mit.edu 37 12 18435606 18435606 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:18435606T>C uc001rdt.2 + 2 707 c.591T>C c.(589-591)CAT>CAC p.H197H PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.H197H|PIK3C2G_uc010sic.1_5'UTR NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 197 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity p.H197L(1) lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) GGAGTGGACATGTGAACATTG 0.383 NA 48 130 0 0 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21349914 21349914 + Nonsense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:21349914G>A uc001req.3 + 8 866 c.762G>A c.(760-762)TGG>TGA p.W254* NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 254 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) ATTCTCGATGGGTTGGAGCTT 0.358 NA 40 96 0 0 0 0 KIAA0528 9847 broad.mit.edu 37 12 22680700 22680700 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:22680700C>A uc001rfq.2 - 4 532 c.304G>T c.(304-306)GCA>TCA p.A102S KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.A102S|KIAA0528_uc010sit.1_Missense_Mutation_p.A102S|KIAA0528_uc010siu.1_Missense_Mutation_p.A102S|KIAA0528_uc001rfr.2_Missense_Mutation_p.A102S|KIAA0528_uc009ziy.1_Missense_Mutation_p.A102S NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 102 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 ATGACTGTTGCAGCTTCACTA 0.323 NA 23 67 2.8e-10 5.02e-10 1 0 OVCH1 341350 broad.mit.edu 37 12 29631793 29631793 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:29631793T>C uc001rix.1 - 9 1044 c.1044A>G c.(1042-1044)TTA>TTG p.L348L NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 348 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGCTTGATCGTAAAGATACAT 0.303 NA 8 25 0 0 0 0 LRRK2 120892 broad.mit.edu 37 12 40692113 40692113 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:40692113G>C uc001rmg.3 + 24 3286 c.3165G>C c.(3163-3165)TTG>TTC p.L1055F LRRK2_uc001rmh.1_Missense_Mutation_p.L677F|LRRK2_uc009zjw.2_5'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1055 LRR 3. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTTATTTGTTGAAAATGAGTT 0.333 NA 15 41 0 0 0 0 DBX2 440097 broad.mit.edu 37 12 45429829 45429829 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:45429829G>C uc001rok.1 - 2 644 c.472C>G c.(472-474)CGC>GGC p.R158G NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 158 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) gatgcagggcgccgacaggac 0.109 NA 6 13 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49438025 49438025 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:49438025C>A uc001rta.3 - 21 5146 c.5146G>T c.(5146-5148)GCA>TCA p.A1716S NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1716 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 TCCGCCTGTGCAGCAGGCCCC 0.617 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 24 7.48e-07 1.24e-06 1 0 MLL2 8085 broad.mit.edu 37 12 49447314 49447314 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:49447314C>T uc001rta.3 - 6 784 c.784G>A c.(784-786)GCC>ACC p.A262T NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 262 Cys-rich.|PHD-type 1.|RING-type 1; atypical. 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 CGTTTGCGGGCAGTCAGAGCA 0.582 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 5 11 0 0 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50186272 50186272 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:50186272A>G uc009zlk.2 - 12 3951 c.3749T>C c.(3748-3750)ATG>ACG p.M1250T NCKAP5L_uc001rvc.3_Missense_Mutation_p.M454T|NCKAP5L_uc001rvb.2_Missense_Mutation_p.M843T NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1246 Pro-rich. central_nervous_system(1) 1 GGGTGGGCACATGAGAGGGTC 0.632 NA 8 27 0 0 0 0 LARP4 113251 broad.mit.edu 37 12 50847384 50847384 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:50847384C>G uc001rwp.1 + 9 1090 c.946C>G c.(946-948)CAG>GAG p.Q316E LARP4_uc001rwo.1_Missense_Mutation_p.Q322E|LARP4_uc001rwq.1_Intron|LARP4_uc001rwr.1_Missense_Mutation_p.Q316E|LARP4_uc001rws.1_Missense_Mutation_p.Q315E|LARP4_uc009zlr.1_Missense_Mutation_p.Q135E|LARP4_uc001rwt.1_Intron|LARP4_uc001rwm.2_Missense_Mutation_p.Q316E|LARP4_uc001rwn.2_Missense_Mutation_p.Q246E NM_052879 NP_443111 Q71RC2 LARP4_HUMAN c-Mpl binding protein isoform a 316 nucleotide binding|RNA binding ovary(1) 1 TCCTCACCAACAGTACTCGGT 0.393 NA 27 81 0 0 0 0 ATF1 466 broad.mit.edu 37 12 51213453 51213453 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:51213453A>G uc001rww.3 + 7 985 c.707A>G c.(706-708)GAA>GGA p.E236G ATF1_uc010smu.1_Missense_Mutation_p.E101G NM_005171 NP_005162 P18846 ATF1_HUMAN activating transcription factor 1 236 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway EWSR1/ATF1(323)|FUS/ATF1(4) soft_tissue(321)|ovary(2)|NS(2)|bone(2)|skin(2) 329 AAGAAGAAAGAATATGTGAAA 0.308 NA T EWSR1|FUS malignant melanoma of soft parts |angiomatoid fibrous histiocytoma 21 26 0 0 0 0 KRT79 338785 broad.mit.edu 37 12 53227940 53227940 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:53227940T>C uc001sbb.2 - 1 138 c.105A>G c.(103-105)TCA>TCG p.S35S NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 35 Head. keratin filament structural molecule activity ovary(2)|skin(2) 4 ACACCGTCACTGAGCTGAAGC 0.647 NA 18 42 0 0 0 0 KRT78 196374 broad.mit.edu 37 12 53233651 53233651 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:53233651G>T uc001sbc.1 - 7 1229 c.1165C>A c.(1165-1167)CTG>ATG p.L389M NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN keratin 5b 389 Coil 2.|Rod. keratin filament protein binding|structural molecule activity ovary(2) 2 AGCCGGGCCAGGTTCTGCTTG 0.637 NA 20 50 7.21e-19 1.45e-18 1 0 KRT18 3875 broad.mit.edu 37 12 53346565 53346565 + Missense_Mutation SNP G G A rs148580152 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:53346565G>A uc001sbe.2 + 8 1301 c.1232G>A c.(1231-1233)CGC>CAC p.R411H KRT18_uc009zmn.1_3'UTR|KRT18_uc001sbf.1_3'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.R411H|KRT18_uc009zmo.2_3'UTR NM_199187 NP_954657 P05783 K1C18_HUMAN keratin 18 411 Tail. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity skin(1) 1 ACCACCACCCGCCGGATAGTG 0.532 NA 24 48 0 0 0 0 IKZF4 64375 broad.mit.edu 37 12 56429106 56429106 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:56429106G>A uc001sjb.1 + 9 1908 c.1749G>A c.(1747-1749)AAG>AAA p.K583K IKZF4_uc010sqa.1_Silent_p.K536K|IKZF4_uc001sjc.1_Silent_p.K583K|IKZF4_uc001sjd.1_Silent_p.K481K|IKZF4_uc009zoi.1_Silent_p.K538K|IKZF4_uc001sje.1_Silent_p.K542K NM_022465 NP_071910 Q9H2S9 IKZF4_HUMAN zinc finger protein, subfamily 1A, 4 583 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) GGGAGCATAAGGTGGGCTAGC 0.547 NA 7 191 0 0 0 0 INHBC 3626 broad.mit.edu 37 12 57843137 57843137 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:57843137C>G uc001snv.1 + 2 518 c.391C>G c.(391-393)CAG>GAG p.Q131E NM_005538 NP_005529 P55103 INHBC_HUMAN inhibin beta C chain preproprotein 131 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding 0 GGAGGTCCAGCAGGCCAGTCT 0.507 NA 65 181 0 0 0 0 METTL1 4234 broad.mit.edu 37 12 58163103 58163103 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:58163103C>A uc010ssd.1 - 5 706 c.658G>T c.(658-660)GTG>TTG p.V220L CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_3'UTR NM_005371 NP_005362 Q9UBP6 TRMB_HUMAN methyltransferase-like protein 1 isoform a 220 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding 0 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) TCCAGAGGCACACGCTCAAAC 0.537 NA 11 21 3.86e-05 6e-05 1 0 SLC16A7 9194 broad.mit.edu 37 12 60173400 60173400 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:60173400T>C uc001sqs.2 + 6 1676 c.1377T>C c.(1375-1377)GAT>GAC p.D459D SLC16A7_uc001sqt.2_Silent_p.D459D|SLC16A7_uc001squ.2_Silent_p.D459D|SLC16A7_uc009zqi.2_Silent_p.D360D|SLC16A7_uc010ssi.1_Silent_p.D360D NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 459 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) ATTCGGAAGATGTTAACGTCA 0.368 NA 7 19 0 0 0 0 USP15 9958 broad.mit.edu 37 12 62715352 62715352 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:62715352G>T uc001src.1 + 5 592 c.583G>T c.(583-585)GAC>TAC p.D195Y USP15_uc001srb.1_Missense_Mutation_p.D195Y|USP15_uc001sra.2_Missense_Mutation_p.D195Y NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 195 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GAATAAACCAGACAGCACCAT 0.333 NA 7 29 0.000274275 0.000411185 1 0 AVPR1A 552 broad.mit.edu 37 12 63543951 63543951 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:63543951G>T uc001sro.1 - 1 2640 c.666C>A c.(664-666)GGC>GGA p.G222G NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 222 Helical; Name=5; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) CAAAGATGCCGCCCGTCATCC 0.612 NA 34 93 3.9e-15 7.56e-15 1 0 TMBIM4 51643 broad.mit.edu 37 12 66531826 66531826 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:66531826C>T uc001stc.2 - 7 707 c.631G>A c.(631-633)GTA>ATA p.V211I LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.V180I|TMBIM4_uc009zqr.2_Missense_Mutation_p.V258I|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR NM_016056 NP_057140 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 211 Helical; (Potential). integral to membrane protein binding ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(28;0.0745) GCAGCTAATACGTACTCTTCA 0.413 NA 22 47 0 0 0 0 DYRK2 8445 broad.mit.edu 37 12 68051900 68051900 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:68051900A>T uc001str.3 + 3 1615 c.1213A>T c.(1213-1215)ATG>TTG p.M405L DYRK2_uc001sts.3_Missense_Mutation_p.M332L NM_006482 NP_006473 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 405 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(1)|central_nervous_system(1) 4 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) GCCCATTGATATGTGGAGCCT 0.542 NA 11 30 0 0 0 0 MDM2 4193 broad.mit.edu 37 12 69203025 69203025 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:69203025G>C uc001sui.2 + 2 339 c.52G>C c.(52-54)GGT>CGT p.G18R MDM2_uc009zri.2_Missense_Mutation_p.G18R|MDM2_uc009zqx.2_Missense_Mutation_p.G18R|MDM2_uc009zqw.2_Missense_Mutation_p.G18R|MDM2_uc001suk.2_Missense_Mutation_p.G18R|MDM2_uc009zqy.1_Missense_Mutation_p.G7R|MDM2_uc001sun.3_Missense_Mutation_p.G7R|MDM2_uc009zqz.2_Missense_Mutation_p.G12R|MDM2_uc009zra.2_Missense_Mutation_p.G12R|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_Missense_Mutation_p.G7R|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_Missense_Mutation_p.G7R|MDM2_uc009zrf.2_5'UTR|MDM2_uc001suo.2_Missense_Mutation_p.G7R|MDM2_uc009zrg.2_Missense_Mutation_p.G7R|MDM2_uc009zrh.2_Missense_Mutation_p.G7R NM_002392 NP_002383 Q00987 MDM2_HUMAN mouse double minute 2 homolog isoform MDM2 12 Necessary for interaction with USP2. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|central_nervous_system(1) 3 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ACCTACTGATGGTGCTGTAAC 0.368 NA A sarcoma|glioma|colorectal|other 134 285 0 0 0 0 PTPRR 5801 broad.mit.edu 37 12 71078504 71078504 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:71078504T>C uc001swi.1 - 9 1755 c.1339A>G c.(1339-1341)ATT>GTT p.I447V PTPRR_uc001swh.1_Missense_Mutation_p.I202V|PTPRR_uc009zrs.2_Missense_Mutation_p.I296V|PTPRR_uc010stq.1_Missense_Mutation_p.I335V|PTPRR_uc010str.1_Missense_Mutation_p.I296V NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 447 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TTAGCATTAATGTAGGTGCTC 0.299 NA 24 59 0 0 0 0 CAPS2 84698 broad.mit.edu 37 12 75687068 75687068 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:75687068C>A uc001sxk.3 - 13 1378 c.1181G>T c.(1180-1182)CGA>CTA p.R394L CAPS2_uc001sxm.3_Missense_Mutation_p.R162L|CAPS2_uc009zsa.2_5'UTR|CAPS2_uc001sxi.3_Missense_Mutation_p.R130L|CAPS2_uc001sxj.3_Missense_Mutation_p.R305L|CAPS2_uc001sxl.3_Missense_Mutation_p.R375L NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN calcyphosine 2 394 calcium ion binding ovary(2) 2 ATTTGTGATTCGGAGTTTAAG 0.318 NA 19 52 5.39e-06 8.68e-06 1 0 NAV3 89795 broad.mit.edu 37 12 78400500 78400500 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:78400500G>C uc001syp.2 + 8 1355 c.1182G>C c.(1180-1182)CGG>CGC p.R394R NAV3_uc001syo.2_Silent_p.R394R NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 394 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCAATGCCCGGACTGCTTTAC 0.498 NA HNSCC(70;0.22) 25 69 0 0 0 0 ACSS3 79611 broad.mit.edu 37 12 81627154 81627154 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:81627154T>C uc001szl.1 + 13 1714 c.1623T>C c.(1621-1623)GGT>GGC p.G541G ACSS3_uc001szm.1_Silent_p.G540G|ACSS3_uc001szn.1_Silent_p.G223G NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 541 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TGGATGCTGGTTACATGGATG 0.343 NA 31 99 0 0 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255711 85255711 + Silent SNP G G T rs149254147 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:85255711G>T uc001szv.2 - 12 2386 c.1893C>A c.(1891-1893)CTC>CTA p.L631L SLC6A15_uc010sul.1_Silent_p.L524L|SLC6A15_uc001szw.1_Intron NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 631 Helical; Name=12; (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 CAGGGACTGGGAGTATTGCAA 0.393 NA 19 88 3.57e-18 7.14e-18 1 0 SLC6A15 55117 broad.mit.edu 37 12 85266419 85266419 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:85266419G>A uc001szv.2 - 8 1757 c.1264C>T c.(1264-1266)CAT>TAT p.H422Y SLC6A15_uc010sul.1_Missense_Mutation_p.H315Y|SLC6A15_uc001szw.1_Missense_Mutation_p.H130Y NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 422 Extracellular (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 GAATTGAGATGAAGAGCAGGA 0.308 NA 20 36 0 0 0 0 C12orf29 91298 broad.mit.edu 37 12 88433979 88433979 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:88433979A>T uc001tao.2 + 2 303 c.145A>T c.(145-147)ATA>TTA p.I49L C12orf29_uc001tap.2_Intron|C12orf29_uc009zsk.2_Intron NM_001009894 NP_001009894 Q8N999 CL029_HUMAN hypothetical protein LOC91298 49 0 AGATGCAGATATATACAGTGC 0.308 NA 23 42 0 0 0 0 CCDC38 120935 broad.mit.edu 37 12 96312654 96312654 + Silent SNP C C A rs139084164 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:96312654C>A uc001tek.1 - 3 372 c.138G>T c.(136-138)ACG>ACT p.T46T NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 46 skin(1) 1 TAAACTTTACCGTTTCCTTTG 0.363 NA 14 46 1.15e-07 1.93e-07 1 0 C12orf63 374467 broad.mit.edu 37 12 97158856 97158856 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:97158856T>C uc001tet.1 + 27 3494 c.3416T>C c.(3415-3417)GTC>GCC p.V1139A NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 1139 skin(6)|ovary(1) 7 TAATTGTAGGTCAGTGAAGCT 0.274 NA 15 57 0 0 0 0 IKBIP 121457 broad.mit.edu 37 12 99007656 99007656 + Missense_Mutation SNP C C A rs147943089 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:99007656C>A uc001tfv.2 - 3 870 c.760G>T c.(760-762)GAC>TAC p.D254Y IKBIP_uc001tfw.2_3'UTR NM_201612 NP_963906 Q70UQ0 IKIP_HUMAN IKK interacting protein isoform 2 254 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding 0 GTATGTTTGTCGAAGTCACTC 0.378 NA 20 68 2.46e-09 4.32e-09 1 0 NR1H4 9971 broad.mit.edu 37 12 100928694 100928694 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:100928694T>C uc001tht.1 + 4 683 c.655T>C c.(655-657)TCT>CCT p.S219P NR1H4_uc001thp.1_Missense_Mutation_p.S205P|NR1H4_uc001thq.1_Missense_Mutation_p.S209P|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.S209P|NR1H4_uc010svk.1_Missense_Mutation_p.S158P|NR1H4_uc001ths.1_Missense_Mutation_p.S215P NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 219 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TCAGTGTAAATCTAAGCGACT 0.413 NA 16 21 0 0 0 0 ANO4 121601 broad.mit.edu 37 12 101491468 101491468 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:101491468C>A uc010svm.1 + 20 2462 c.1890C>A c.(1888-1890)AAC>AAA p.N630K ANO4_uc001thw.2_Missense_Mutation_p.N595K|ANO4_uc001thx.2_Missense_Mutation_p.N630K|ANO4_uc001thy.2_Missense_Mutation_p.N150K NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 630 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GGCTGATAAACAGGTGGAGAC 0.428 NA HNSCC(74;0.22) 20 52 2.4e-15 4.64e-15 1 0 SLC5A8 160728 broad.mit.edu 37 12 101603614 101603614 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:101603614G>T uc001thz.3 - 1 403 c.13C>A c.(13-15)CGG>AGG p.R5R NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 5 Extracellular (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 CCGATGCCCCGTGGCGTGTCC 0.706 NA 7 13 0.000157383 0.000239122 1 0 APPL2 55198 broad.mit.edu 37 12 105600962 105600962 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:105600962C>G uc001tlf.1 - 8 716 c.498G>C c.(496-498)GAG>GAC p.E166D APPL2_uc010swt.1_Missense_Mutation_p.E123D|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.E172D|APPL2_uc009zuq.2_Missense_Mutation_p.E123D NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 166 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 CCGCGGCCACCTCTTTTCCGA 0.512 NA 14 35 0 0 0 0 NUAK1 9891 broad.mit.edu 37 12 106466568 106466568 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:106466568C>G uc001tlj.1 - 5 2013 c.633G>C c.(631-633)ACG>ACC p.T211T NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 211 Protein kinase. T->A: Prevents phosphorylation and activation by STK11/LKB1 complex. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 TCCCACAAAACGTTTGTAAGA 0.488 NA 21 50 0 0 0 0 BTBD11 121551 broad.mit.edu 37 12 108029160 108029160 + Silent SNP G G C rs149726114 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:108029160G>C uc001tmk.1 + 12 3251 c.2730G>C c.(2728-2730)TCG>TCC p.S910S BTBD11_uc009zut.1_Silent_p.S791S|BTBD11_uc001tmj.2_Silent_p.S910S|BTBD11_uc001tml.1_Silent_p.S447S|BTBD11_uc001tmm.1_5'UTR NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 910 integral to membrane DNA binding skin(2)|ovary(1) 3 AACAGACCTCGCGCTTGGGTG 0.552 NA 22 49 0 0 0 0 SART3 9733 broad.mit.edu 37 12 108930562 108930562 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:108930562C>A uc001tmz.1 - 10 1545 c.1310_splice c.e10-1 p.D437_splice SART3_uc001tmy.1_Splice_Site|SART3_uc009zux.1_Splice_Site_p.D49_splice|SART3_uc010swx.1_Splice_Site_p.D401_splice|SART3_uc010swy.1_Splice_Site_p.D323_splice|SART3_uc010swz.1_Splice_Site_p.D437_splice|SART3_uc001tna.1_Splice_Site NM_014706 NP_055521 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding pancreas(1) 1 TTACTGGAGTCTAACGGAAAG 0.448 NA Porokeratosis 12 22 2.81e-09 4.9e-09 1 0 ALKBH2 121642 broad.mit.edu 37 12 109530453 109530453 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:109530453C>A uc001tnx.2 - 2 532 c.139G>T c.(139-141)GGG>TGG p.G47W ALKBH2_uc001tny.2_Missense_Mutation_p.G47W|ALKBH2_uc010sxj.1_Missense_Mutation_p.G47W|ALKBH2_uc009zvd.2_Missense_Mutation_p.G47W|ALKBH2_uc010sxk.1_Missense_Mutation_p.G47W NM_001145374 NP_001138846 Q6NS38 ALKB2_HUMAN AlkB homolog 2 47 DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 Vitamin C(DB00126) CCTCCATTCCCTGGGGCCTCT 0.582 NA Direct_reversal_of_damage 50 115 1.01e-21 2.06e-21 1 0 ACACB 32 broad.mit.edu 37 12 109650676 109650676 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:109650676G>C uc001tob.2 + 22 3404 c.3285G>C c.(3283-3285)CTG>CTC p.L1095L ACACB_uc001toc.2_Silent_p.L1095L NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1095 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CAGCCACCCTGCAGCGGAAGG 0.542 NA 45 114 0 0 0 0 UBE3B 89910 broad.mit.edu 37 12 109959106 109959106 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:109959106G>C uc001top.2 + 20 2833 c.2230G>C c.(2230-2232)GAC>CAC p.D744H UBE3B_uc001toq.2_Missense_Mutation_p.D744H|UBE3B_uc001tos.2_Missense_Mutation_p.D171H|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.D744H NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 744 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 GAGAGTTTTTGACCCAGCACT 0.488 NA 31 99 0 0 0 0 C12orf51 283450 broad.mit.edu 37 12 112670875 112670875 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:112670875C>G uc009zwc.2 - 31 4682 c.4664G>C c.(4663-4665)CGG>CCG p.R1555P NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TCGGAAGGGCCGTCCTTCTGA 0.512 NA 5 7 0 0 0 0 RPH3A 22895 broad.mit.edu 37 12 113307719 113307719 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:113307719C>A uc010syl.1 + 10 1033 c.671C>A c.(670-672)CCC>CAC p.P224H RPH3A_uc001ttz.2_Missense_Mutation_p.P224H|RPH3A_uc001tty.2_Missense_Mutation_p.P220H|RPH3A_uc009zwe.1_Missense_Mutation_p.P220H|RPH3A_uc010sym.1_Missense_Mutation_p.P175H|RPH3A_uc001tua.2_5'UTR NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 224 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) GCCTCTGCTCCCGGGCGAGGA 0.562 NA 29 62 3.99e-17 7.9e-17 1 0 RPH3A 22895 broad.mit.edu 37 12 113321158 113321158 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:113321158C>T uc010syl.1 + 16 1749 c.1387C>T c.(1387-1389)CTC>TTC p.L463F RPH3A_uc001ttz.2_Missense_Mutation_p.L463F|RPH3A_uc001tty.2_Missense_Mutation_p.L459F|RPH3A_uc009zwe.1_Missense_Mutation_p.L459F|RPH3A_uc010sym.1_Missense_Mutation_p.L414F|RPH3A_uc001tua.2_Missense_Mutation_p.L223F NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 463 C2 1. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) GAATGAGACCCTCGTGTATCA 0.562 NA 10 23 0 0 0 0 PRKAB1 5564 broad.mit.edu 37 12 120114377 120114377 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:120114377G>T uc009zwu.2 + 6 671 c.568G>T c.(568-570)GAG>TAG p.E190* PRKAB1_uc001txg.2_Nonsense_Mutation_p.E190* NM_006253 NP_006244 Q9Y478 AAKB1_HUMAN AMP-activated protein kinase beta 1 190 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) CTACCATCAGGAGCCCTACGT 0.537 NA 36 80 9.81e-26 2.05e-25 1 0 CLIP1 6249 broad.mit.edu 37 12 122825411 122825411 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:122825411C>T uc001ucg.1 - 10 2446 c.2340G>A c.(2338-2340)CGG>CGA p.R780R CLIP1_uc001uch.1_Silent_p.R769R|CLIP1_uc001uci.1_Silent_p.R734R|CLIP1_uc001ucj.1_Intron NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 780 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) AACTGGCTTTCCGAAGTGCAT 0.393 NA 45 99 0 0 0 0 SBNO1 55206 broad.mit.edu 37 12 123780568 123780568 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:123780568G>A uc010tap.1 - 31 4069 c.4069C>T c.(4069-4071)CCT>TCT p.P1357S SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.P1356S|SBNO1_uc010taq.1_Missense_Mutation_p.P308S NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1357 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TTTACAAGAGGAGACACACAA 0.428 NA 46 104 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124383262 124383262 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:124383262G>T uc001uft.3 + 55 9212 c.9187G>T c.(9187-9189)GAG>TAG p.E3063* NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3063 Potential.|Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCAGCTGGACGAGCTGAACCA 0.617 NA 3 12 6.4e-05 9.89e-05 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184929 130184929 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:130184929G>T uc009zyl.1 - 2 722 c.394C>A c.(394-396)CAC>AAC p.H132N NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 132 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CGCAGGATGTGGGCTTTTAGT 0.527 NA 14 30 1.36e-06 2.23e-06 1 0 PIWIL1 9271 broad.mit.edu 37 12 130831562 130831562 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:130831562C>A uc001uik.2 + 6 698 c.608C>A c.(607-609)CCT>CAT p.P203H PIWIL1_uc001uij.1_Missense_Mutation_p.P203H NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 203 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GAACTTCCACCTACATCACCA 0.303 NA 17 36 6.94e-10 1.24e-09 1 0 GPR133 283383 broad.mit.edu 37 12 131466553 131466553 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:131466553G>A uc001uit.3 + 5 994 c.435G>A c.(433-435)GTG>GTA p.V145V GPR133_uc010tbm.1_Silent_p.V177V NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 145 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GAGGCTCTGTGGAGCTGTATA 0.587 NA 38 71 0 0 0 0 POLE 5426 broad.mit.edu 37 12 133225973 133225973 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:133225973C>A uc001uks.1 - 31 3968 c.3924G>T c.(3922-3924)CGG>CGT p.R1308R POLE_uc001ukr.1_Silent_p.R112R|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.R1281R NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1308 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CAGGACCATCCCGGATGGCCC 0.647 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 17 50 9.17e-09 1.59e-08 1 0 POLE 5426 broad.mit.edu 37 12 133234500 133234500 + Missense_Mutation SNP C C T rs114315196 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:133234500C>T uc001uks.1 - 27 3376 c.3332G>A c.(3331-3333)CGG>CAG p.R1111Q POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R1084Q NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1111 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GAGCCATTTCCGGAGAAAGTG 0.483 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 34 84 0 0 0 0 POLE 5426 broad.mit.edu 37 12 133257867 133257867 + Splice_Site SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:133257867T>A uc001uks.1 - 2 107 c.63_splice c.e2-1 p.R21_splice POLE_uc010tbq.1_Splice_Site|POLE_uc009zyu.1_Splice_Site_p.R21_splice NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCATCATCCCTGAGTGAAAGA 0.403 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 35 82 0 0 0 0 ZNF10 7556 broad.mit.edu 37 12 133732562 133732562 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:133732562G>A uc009zzb.2 + 5 1177 c.730G>A c.(730-732)GAC>AAC p.D244N ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.D244N NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 244 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CCCTGATAATGACAACTCTCT 0.378 NA 12 27 0 0 0 0 ZNF10 7556 broad.mit.edu 37 12 133733348 133733348 + Nonsense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:133733348A>T uc009zzb.2 + 5 1963 c.1516A>T c.(1516-1518)AAG>TAG p.K506* ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Nonsense_Mutation_p.K506* NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 506 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TGACCTCATTAAGCACCAGAG 0.413 NA 13 42 0 0 0 0 TUBA3C 7278 broad.mit.edu 37 13 19753636 19753636 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:19753636T>A uc009zzj.2 - 2 120 c.71A>T c.(70-72)TAC>TTC p.Y24F NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 24 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TTCCAGGCAGTACAGTTCCCA 0.512 NA 50 45 0 0 0 0 RNF17 56163 broad.mit.edu 37 13 25406105 25406105 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:25406105G>T uc001upr.2 + 18 2512 c.2471G>T c.(2470-2472)TGT>TTT p.C824F RNF17_uc010tdd.1_Missense_Mutation_p.C683F|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.C824F|RNF17_uc001ups.2_Missense_Mutation_p.C763F|RNF17_uc010aac.2_Missense_Mutation_p.C22F NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 824 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTTATGACATGTTCAGTTATC 0.259 NA 6 12 0.00116845 0.00172167 1 0 PABPC3 5042 broad.mit.edu 37 13 25671150 25671150 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:25671150C>A uc001upy.2 + 1 875 c.814C>A c.(814-816)CGG>AGG p.R272R NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 272 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAAAGTGGAACGGCAGACGGA 0.398 NA 30 37 7.26e-15 1.4e-14 1 0 ATP8A2 51761 broad.mit.edu 37 13 26343303 26343303 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:26343303G>T uc001uqk.2 + 26 2646 c.2504G>T c.(2503-2505)GGT>GTT p.G835V ATP8A2_uc010tdi.1_Missense_Mutation_p.G795V|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.G385V NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 795 Cytoplasmic (Potential). 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) GCCCACGTGGGTGTGGGAATC 0.592 NA 20 52 3.6e-14 6.85e-14 1 0 FLT3 2322 broad.mit.edu 37 13 28592684 28592684 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:28592684G>C uc001urw.2 - 20 2543 c.2461C>G c.(2461-2463)CAC>GAC p.H821D FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 821 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) ACTTTCCCGTGGGTGACAAGC 0.468 NA Mis|O AML|ALL 19 32 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39264040 39264040 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:39264040C>A uc001uwv.2 + 1 2868 c.2559C>A c.(2557-2559)CAC>CAA p.H853Q NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 853 CSPG 5.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAGAGTTGCACGTGAATGATG 0.502 NA 13 28 5.51e-06 8.83e-06 1 0 CYSLTR2 57105 broad.mit.edu 37 13 49281445 49281445 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:49281445C>A uc010acx.1 + 6 1175 c.492C>A c.(490-492)ATC>ATA p.I164I CYSLTR2_uc010acy.1_Silent_p.I164I|CYSLTR2_uc010acz.1_Silent_p.I164I|CYSLTR2_uc010ada.1_Silent_p.I164I|CYSLTR2_uc010adb.1_Silent_p.I164I|CYSLTR2_uc010adc.1_Silent_p.I164I|CYSLTR2_uc010add.1_Silent_p.I164I|CYSLTR2_uc010acw.1_Silent_p.I164I|CYSLTR2_uc001vck.2_Silent_p.I164I NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 164 Helical; Name=4; (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TCATATGGATCCTTATCATGG 0.493 NA 53 65 5.14e-22 1.05e-21 1 0 NEK5 341676 broad.mit.edu 37 13 52676308 52676308 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:52676308G>A uc001vge.2 - 10 870 c.730C>T c.(730-732)CCT>TCT p.P244S NEK5_uc001vgf.2_Missense_Mutation_p.P244S NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 244 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CGGTCTCGAGGAGATACTTGA 0.423 NA 5 149 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58208274 58208274 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:58208274G>T uc001vhq.1 + 1 2486 c.1594G>T c.(1594-1596)GGG>TGG p.G532W PCDH17_uc010aec.1_Missense_Mutation_p.G532W NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 532 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCCCACGAACGGGGCCATCTA 0.587 NA 13 17 0.000151284 0.00023073 1 0 PCDH17 27253 broad.mit.edu 37 13 58208540 58208540 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:58208540C>A uc001vhq.1 + 1 2752 c.1860C>A c.(1858-1860)AGC>AGA p.S620R PCDH17_uc010aec.1_Missense_Mutation_p.S620R NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 620 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCGGCGAGAGCGGGCGTCTCA 0.662 NA 28 34 1.77e-15 3.45e-15 1 0 UGGT2 55757 broad.mit.edu 37 13 96599374 96599374 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:96599374C>T uc001vmt.2 - 15 1764 c.1594G>A c.(1594-1596)GAT>AAT p.D532N NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 532 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 ACTCCAGCATCATTTGCTCCA 0.343 NA 23 33 0 0 0 0 FAM155A 728215 broad.mit.edu 37 13 108518792 108518793 + Missense_Mutation DNP CA CA AG TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:108518792_108518793CA>AG uc001vql.2 - 1 668_669 c.152_153TG>CT c.(151-153)CTG>CCT p.L51P NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 51 Helical; (Potential). integral to membrane binding skin(1) 1 GATCAGAGAGCAGGACTGTGAA 0.455 NA 39 80 0 0 0 0 F7 2155 broad.mit.edu 37 13 113770072 113770072 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:113770072G>T uc001vsv.2 + 6 580 c.529G>T c.(529-531)GGG>TGG p.G177W F7_uc010agp.1_Missense_Mutation_p.G170W|F7_uc001vsw.2_Missense_Mutation_p.G155W|F7_uc010tjt.1_Missense_Mutation_p.G108W NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 177 EGF-like 2. G -> R (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GTGCCACGAGGGGTACTCTCT 0.602 NA 7 24 0.00198382 0.0028924 1 0 POTEG 404785 broad.mit.edu 37 14 19553561 19553561 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:19553561C>G uc001vuz.1 + 1 197 c.145C>G c.(145-147)CAC>GAC p.H49D POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 49 ovary(1) 1 TTCTGGAGACCACGACGATTC 0.607 NA 24 556 0 0 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216334 20216334 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20216334C>A uc010tkt.1 + 1 748 c.748C>A c.(748-750)CTG>ATG p.L250M NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTGGTCAGCCTGATCTTCGT 0.453 NA 35 226 1.97e-18 3.94e-18 1 0 OR4M1 441670 broad.mit.edu 37 14 20248502 20248502 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20248502C>A uc010tku.1 + 1 21 c.21C>A c.(19-21)ACC>ACA p.T7T NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAAATTACACCAAGGTGACAG 0.338 NA 26 178 7.16e-05 0.000110528 1 0 OR4M1 441670 broad.mit.edu 37 14 20248683 20248683 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20248683C>A uc010tku.1 + 1 202 c.202C>A c.(202-204)CTC>ATC p.L68I NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TAATCTGGCCCTCCTTGATAT 0.423 NA 66 532 3.07e-33 6.5e-33 1 0 OR4K2 390431 broad.mit.edu 37 14 20345255 20345255 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20345255A>T uc001vwh.1 + 1 829 c.829A>T c.(829-831)ATC>TTC p.I277F NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTTTTATACCATCTTTACTCC 0.358 NA 23 119 0 0 0 0 OR4K14 122740 broad.mit.edu 37 14 20482729 20482729 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20482729G>C uc010tky.1 - 1 624 c.624C>G c.(622-624)TCC>TCG p.S208S NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) AACAGCTCAAGGAAAGCAACC 0.502 NA 13 32 0 0 0 0 OR4K13 390433 broad.mit.edu 37 14 20502160 20502160 + Missense_Mutation SNP G G T rs150686832 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20502160G>T uc010tkz.1 - 1 758 c.758C>A c.(757-759)CCG>CAG p.P253Q NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AAAGACACACGGAGCAAAGAA 0.413 NA 22 46 2.89e-11 5.25e-11 1 0 OR4L1 122742 broad.mit.edu 37 14 20528986 20528986 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20528986A>G uc001vwn.1 + 1 783 c.783A>G c.(781-783)CCA>CCG p.P261P NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATGTTTGGCCATTCAGTAGTT 0.403 NA 23 87 0 0 0 0 OR11G2 390439 broad.mit.edu 37 14 20666322 20666322 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20666322C>T uc010tlb.1 + 1 828 c.828C>T c.(826-828)TTC>TTT p.F276F NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 276 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) GAAAGGCTTTCTCCACCTGTG 0.443 NA 57 145 0 0 0 0 OR11H6 122748 broad.mit.edu 37 14 20692320 20692320 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20692320C>A uc010tlc.1 + 1 452 c.452C>A c.(451-453)CCC>CAC p.P151H NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 151 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TTACACTACCCCTCCATCATG 0.423 NA 40 77 5.72e-15 1.11e-14 1 0 OR6S1 341799 broad.mit.edu 37 14 21109748 21109748 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:21109748G>T uc001vxv.1 - 1 103 c.103C>A c.(103-105)CTT>ATT p.L35I NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) AGATAGACAAGAAGAAACACA 0.478 NA 37 93 2.47e-13 4.65e-13 1 0 LRFN5 145581 broad.mit.edu 37 14 42355978 42355978 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:42355978C>A uc001wvm.2 + 3 1348 c.150C>A c.(148-150)GAC>GAA p.D50E LRFN5_uc010ana.2_Missense_Mutation_p.D50E NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 50 Extracellular (Potential).|LRRNT. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CAAACATTGACAGAAGAACTG 0.413 NA HNSCC(30;0.082) 15 23 1.5e-05 2.37e-05 1 0 FANCM 57697 broad.mit.edu 37 14 45669148 45669148 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:45669148T>C uc001wwd.3 + 23 6183 c.6084T>C c.(6082-6084)TAT>TAC p.Y2028Y FANCM_uc010anf.2_Silent_p.Y2002Y|FANCM_uc001wwe.3_Silent_p.Y1564Y|FANCM_uc010ang.2_Silent_p.Y1277Y NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 2028 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 ATATTCACTATGTATTTGACA 0.338 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 23 56 0 0 0 0 SDCCAG1 9147 broad.mit.edu 37 14 50312932 50312932 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:50312932C>A uc001wxc.2 - 4 351 c.283G>T c.(283-285)GTG>TTG p.V95L SDCCAG1_uc010anj.1_Missense_Mutation_p.V95L|SDCCAG1_uc010tqi.1_Missense_Mutation_p.V95L|SDCCAG1_uc001wxe.2_Intron|SDCCAG1_uc010anq.1_5'UTR NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 95 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) ATTCTATCCACACCAAGCTGT 0.358 NA 13 32 2.32e-09 4.08e-09 1 0 NIN 51199 broad.mit.edu 37 14 51288662 51288662 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:51288662T>G uc001wym.2 - 3 304 c.113A>C c.(112-114)CAC>CCC p.H38P NIN_uc001wyi.2_Missense_Mutation_p.H38P|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.H38P|NIN_uc010tqp.1_Missense_Mutation_p.H44P|NIN_uc001wyo.2_Missense_Mutation_p.H38P|NIN_uc001wyp.1_5'UTR NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 38 EF-hand 1. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GCTCAACATGTGGCAAAGGTC 0.587 NA T PDGFRB MPD 67 244 0 0 0 0 PYGL 5836 broad.mit.edu 37 14 51381466 51381466 + Missense_Mutation SNP G G T rs113993980 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:51381466G>T uc001wyu.2 - 12 1598 c.1471C>A c.(1471-1473)CGC>AGC p.R491S PYGL_uc010tqq.1_Missense_Mutation_p.R457S|PYGL_uc001wyv.2_Missense_Mutation_p.R165S NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 491 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) AGGAGCCAGCGCCTTGGAGTG 0.498 NA 17 57 2.35e-11 4.29e-11 1 0 PTGER2 5732 broad.mit.edu 37 14 52781592 52781592 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:52781592G>C uc001wzr.2 + 1 577 c.326G>C c.(325-327)TGC>TCC p.C109S NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 109 Extracellular (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) AGCCGCGCGTGCACCTACTTC 0.647 NA 23 67 0 0 0 0 SLC35F4 341880 broad.mit.edu 37 14 58056150 58056150 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:58056150A>G uc001xdb.1 - 3 479 c.479T>C c.(478-480)ATG>ACG p.M160T SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.M1T NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 CTTCAGAACCATGGACGTGCA 0.443 NA 11 29 0 0 0 0 DHRS7 51635 broad.mit.edu 37 14 60622799 60622799 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:60622799G>T uc001xes.2 - 2 389 c.205C>A c.(205-207)CAG>AAG p.Q69K C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.Q19K|DHRS7_uc001xeu.2_Missense_Mutation_p.Q69K NM_016029 NP_057113 Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 69 NAD (By similarity). binding|oxidoreductase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.121) TTAGACAACTGGTAAGCCAGC 0.478 NA 23 67 2.89e-11 5.25e-11 1 0 SGPP1 81537 broad.mit.edu 37 14 64152979 64152979 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:64152979T>A uc001xgj.2 - 3 1264 c.1170A>T c.(1168-1170)TTA>TTT p.L390F NM_030791 NP_110418 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 390 endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) TTTTGCAGGCTAAAGGAATGG 0.373 NA 23 87 0 0 0 0 ZFP36L1 677 broad.mit.edu 37 14 69257126 69257126 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:69257126C>A uc001xkh.1 - 2 271 c.141G>T c.(139-141)GGG>GGT p.G47G ZFP36L1_uc001xki.1_Silent_p.G47G NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 47 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) GAGGGAAGCCCCCACCAGCAG 0.612 NA OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 22 0.000274275 0.000411185 1 0 PCNX 22990 broad.mit.edu 37 14 71555910 71555910 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:71555910A>T uc001xmo.2 + 30 5886 c.5440A>T c.(5440-5442)AAT>TAT p.N1814Y PCNX_uc010are.1_Missense_Mutation_p.N1703Y|PCNX_uc010arf.1_Missense_Mutation_p.N602Y NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1814 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) TCTTAACAGTAATTTAGAGTC 0.274 NA 14 53 0 0 0 0 ABCD4 5826 broad.mit.edu 37 14 74759551 74759551 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:74759551T>C uc001xpr.2 - 9 988 c.836A>G c.(835-837)TAT>TGT p.Y279C ABCD4_uc001xps.2_Missense_Mutation_p.Y120C|ABCD4_uc001xpt.2_Missense_Mutation_p.Y120C|ABCD4_uc010tur.1_Missense_Mutation_p.Y175C|ABCD4_uc001xpu.2_Missense_Mutation_p.Y16C|ABCD4_uc001xpv.2_RNA NM_005050 NP_005041 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D, member 4 279 ABC transmembrane type-1.|Helical; (Potential). ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00153) GCTGCCCAGATAGTCAAAGGT 0.537 NA 22 47 0 0 0 0 LTBP2 4053 broad.mit.edu 37 14 74969972 74969972 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:74969972T>A uc001xqa.2 - 33 5225 c.4838A>T c.(4837-4839)GAC>GTC p.D1613V NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1613 TB 4. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGCCTCGCCGTCCTGGCAGCA 0.637 NA 19 35 0 0 0 0 FLRT2 23768 broad.mit.edu 37 14 86087868 86087868 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:86087868C>T uc001xvr.2 + 2 777 c.10C>T c.(10-12)CAG>TAG p.Q4* FLRT2_uc010atd.2_Nonsense_Mutation_p.Q4* NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 4 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) AATGGGCCTACAGACCACAAA 0.443 NA 24 73 0 0 0 0 FLRT2 23768 broad.mit.edu 37 14 86088278 86088278 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:86088278G>C uc001xvr.2 + 2 1187 c.420G>C c.(418-420)CTG>CTC p.L140L FLRT2_uc010atd.2_Silent_p.L140L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 140 LRR 4.|Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) AGCTGCACCTGGATGACAACT 0.488 NA 16 55 0 0 0 0 SMEK1 55671 broad.mit.edu 37 14 91948115 91948115 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:91948115T>A uc001xzn.2 - 4 1542 c.720A>T c.(718-720)CTA>CTT p.L240L SMEK1_uc001xzm.2_Silent_p.L240L|SMEK1_uc001xzo.2_Silent_p.L240L|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Silent_p.L116L NM_032560 NP_115949 Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 240 microtubule organizing center|nucleus protein binding 0 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) CTGTTTTTGTTAGAAATTCCC 0.338 NA 20 54 0 0 0 0 RIN3 79890 broad.mit.edu 37 14 93118666 93118666 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:93118666C>G uc001yap.2 + 6 1424 c.1272C>G c.(1270-1272)GAC>GAG p.D424E RIN3_uc010auk.2_Missense_Mutation_p.D86E|RIN3_uc001yaq.2_Missense_Mutation_p.D349E|RIN3_uc001yar.1_Missense_Mutation_p.D86E|RIN3_uc001yas.1_Missense_Mutation_p.D86E NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 424 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) GCCCTGAGGACACGCCCCGGG 0.642 NA 22 50 0 0 0 0 KIAA1409 57578 broad.mit.edu 37 14 94038416 94038416 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:94038416C>G uc001ybv.1 + 12 1484 c.1401C>G c.(1399-1401)TTC>TTG p.F467L KIAA1409_uc001ybs.1_Missense_Mutation_p.F467L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 644 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) TAAAAGAATTCAGGGAAGTAT 0.289 NA 12 40 0 0 0 0 PRIMA1 145270 broad.mit.edu 37 14 94187840 94187840 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:94187840T>G uc001ybw.1 - 5 454 c.412A>C c.(412-414)AGT>CGT p.S138R PRIMA1_uc001ybx.1_RNA NM_178013 NP_821092 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 precursor 138 Cytoplasmic (Potential). neurotransmitter catabolic process cell junction|integral to membrane|synapse large_intestine(1)|skin(1) 2 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) TGCGAAGCACTCATGGGATAC 0.587 NA 14 36 0 0 0 0 PPP4R4 57718 broad.mit.edu 37 14 94711942 94711942 + Missense_Mutation SNP G G T rs143566515 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:94711942G>T uc001ycs.1 + 13 1517 c.1363G>T c.(1363-1365)GAT>TAT p.D455Y NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 455 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 TGCTCTTATAGATCATCTTCC 0.313 NA 24 66 3.6e-14 6.85e-14 1 0 SERPINA4 5267 broad.mit.edu 37 14 95033445 95033445 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:95033445G>A uc001ydk.2 + 3 854 c.788G>A c.(787-789)TGC>TAC p.C263Y SERPINA4_uc010avd.2_Missense_Mutation_p.C300Y|SERPINA4_uc001ydl.2_Missense_Mutation_p.C263Y NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 263 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) TACTTGCCCTGCTCGGTGCTA 0.493 NA 15 44 0 0 0 0 SERPINA5 5104 broad.mit.edu 37 14 95058512 95058512 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:95058512G>T uc001ydm.2 + 6 1367 c.1157G>T c.(1156-1158)AGG>ATG p.R386M SERPINA3_uc001ydo.3_Intron NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 386 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GTGTTCAACAGGCCCTTTCTG 0.557 NA 135 323 8.32e-65 1.78e-64 1 0 GSC 145258 broad.mit.edu 37 14 95234860 95234861 + Nonsense_Mutation DNP CC CC AA TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:95234860_95234861CC>AA uc001ydu.2 - 3 888_889 c.741_742GG>TT c.(739-744)GAGGAA>GATTAA p.247_248EE>D* NM_173849 NP_776248 P56915 GSC_HUMAN goosecoid 247_248 gastrulation|middle ear morphogenesis sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(154;0.0896)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239) CTTTTACCTTCCTCTTCCCTCT 0.559 NA 40 104 0 0 0 0 DICER1 23405 broad.mit.edu 37 14 95582111 95582111 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:95582111G>T uc001ydw.2 - 12 1982 c.1800C>A c.(1798-1800)GAC>GAA p.D600E DICER1_uc001ydv.2_Missense_Mutation_p.D590E|DICER1_uc001ydx.2_Missense_Mutation_p.D600E NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 600 Helicase C-terminal. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CAGGATCAATGTCAGTCTCAC 0.433 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 24 44 2.4e-15 4.64e-15 1 0 NDN 4692 broad.mit.edu 37 15 23931753 23931753 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:23931753G>T uc001ywk.2 - 1 698 c.612C>A c.(610-612)GGC>GGA p.G204G NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 204 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCTCTCTGGCGCCGCGGCCCT 0.657 NA Prader-Willi_syndrome 10 25 2.18e-05 3.43e-05 1 0 CHRFAM7A 89832 broad.mit.edu 37 15 30665184 30665184 + Missense_Mutation SNP C C A rs144150663 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:30665184C>A uc001zdt.1 - 6 891 c.325G>T c.(325-327)GTG>TTG p.V109L DKFZP434L187_uc001zds.2_RNA|CHRFAM7A_uc001zdu.1_Missense_Mutation_p.V18L|CHRFAM7A_uc010azn.2_Missense_Mutation_p.V18L|CHRFAM7A_uc001zdv.2_RNA NM_139320 NP_647536 Q494W8 CRFM7_HUMAN CHRNA7-FAM7A fusion isoform 1 109 integral to membrane|postsynaptic membrane extracellular ligand-gated ion channel activity skin(1) 1 all_lung(180;3.42e-11)|Breast(32;0.000153) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) GGCTTACCCACTAGGTCCCAT 0.502 NA 41 84 1e-27 2.09e-27 1 0 RYR3 6263 broad.mit.edu 37 15 34040373 34040373 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:34040373G>A uc001zhi.2 + 54 8118 c.8048G>A c.(8047-8049)GGC>GAC p.G2683D RYR3_uc010bar.2_Missense_Mutation_p.G2683D NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2683 3.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGGCTGTGGGCTGGACTGTG 0.522 NA 22 28 0 0 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42442599 42442599 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:42442599T>G uc001zoz.2 - 9 920 c.857A>C c.(856-858)GAG>GCG p.E286A PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Missense_Mutation_p.E37A|PLA2G4F_uc001zpa.2_Missense_Mutation_p.E37A|PLA2G4F_uc010bcs.2_Missense_Mutation_p.E73A NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 286 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ACACTGTTCCTCCTGGCCTAG 0.627 NA 9 14 0 0 0 0 SPG11 80208 broad.mit.edu 37 15 44888469 44888469 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:44888469A>G uc001ztx.2 - 25 4277 c.4246T>C c.(4246-4248)TCC>CCC p.S1416P SPG11_uc010ueh.1_Missense_Mutation_p.S1416P|SPG11_uc010uei.1_Missense_Mutation_p.S1416P|SPG11_uc001zty.1_Missense_Mutation_p.S145P NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1416 Cytoplasmic (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TCCATTTTGGAGGTGGGCACT 0.463 NA 3 93 0 0 0 0 SLC12A1 6557 broad.mit.edu 37 15 48577336 48577336 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:48577336C>A uc001zwn.3 + 21 2735 c.2519C>A c.(2518-2520)GCA>GAA p.A840E SLC12A1_uc010uew.1_Missense_Mutation_p.A646E|SLC12A1_uc001zwq.3_Missense_Mutation_p.A611E|SLC12A1_uc001zwr.3_Missense_Mutation_p.A567E NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 840 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GAGAGACTAGCATTGGAAGCG 0.373 NA 28 43 1.4e-14 2.68e-14 1 0 HDC 3067 broad.mit.edu 37 15 50534984 50534984 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:50534984C>A uc001zxz.2 - 12 1568 c.1462G>T c.(1462-1464)GGG>TGG p.G488W HDC_uc001zxy.2_Missense_Mutation_p.G231W|HDC_uc010uff.1_Missense_Mutation_p.G455W NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 488 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) ATGAGGTTCCCAACCCGAGGG 0.567 NA 16 30 1.57e-10 2.84e-10 1 0 ITGA11 22801 broad.mit.edu 37 15 68650827 68650827 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:68650827T>C uc002ari.2 - 6 656 c.569A>G c.(568-570)AAA>AGA p.K190R ITGA11_uc010bib.2_Missense_Mutation_p.K190R NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 190 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) GTAAAACTTTTTCAGGATGTT 0.542 NA 6 13 0 0 0 0 TLE3 7090 broad.mit.edu 37 15 70351092 70351092 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:70351092G>A uc002asm.2 - 11 1947 c.828C>T c.(826-828)GCC>GCT p.A276A TLE3_uc002ask.2_Silent_p.A220A|TLE3_uc002asl.2_Silent_p.A281A|TLE3_uc010ukd.1_Silent_p.A269A|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Silent_p.A276A|TLE3_uc002asn.2_Silent_p.A276A|TLE3_uc002asp.2_Silent_p.A276A|TLE3_uc002aso.2_Silent_p.A276A NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 276 Pro/Ser-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 TCAGGCTACGGGCCTTGTCCA 0.582 NA 5 2 0 0 0 0 UBE2Q2 92912 broad.mit.edu 37 15 76171514 76171514 + Silent SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:76171514T>G uc002bbg.2 + 8 1196 c.810T>G c.(808-810)CTT>CTG p.L270L UBE2Q2_uc002bbh.2_Silent_p.L235L|UBE2Q2_uc010umn.1_Silent_p.L254L|UBE2Q2_uc002bbi.2_Silent_p.L151L NM_173469 NP_775740 Q8WVN8 UB2Q2_HUMAN ubiquitin-conjugating enzyme E2Q 2 isoform 1 270 protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity ovary(2) 2 ATATTTTGCTTAACTTCTCTT 0.219 NA 12 20 0 0 0 0 ACAN 176 broad.mit.edu 37 15 89401765 89401765 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:89401765C>A uc010upo.1 + 12 6323 c.5949C>A c.(5947-5949)GAC>GAA p.D1983E ACAN_uc010upp.1_Missense_Mutation_p.D1983E|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1983 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GATTTCTGGACCTAAGTGGGC 0.542 NA 29 37 1.16e-09 2.05e-09 1 0 MESP2 145873 broad.mit.edu 37 15 90320436 90320436 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:90320436C>G uc002bon.2 + 1 848 c.848C>G c.(847-849)TCG>TGG p.S283W MESP2_uc010uqa.1_Intron NM_001039958 NP_001035047 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog 283 Notch signaling pathway nucleus DNA binding 0 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) TGGACGCAGTCGTCCCCAGAG 0.647 NA 10 7 0 0 0 0 PCSK6 5046 broad.mit.edu 37 15 101872152 101872152 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:101872152C>T uc002bwy.2 - 15 2257 c.1943G>A c.(1942-1944)CGG>CAG p.R648Q PCSK6_uc010bpd.2_Missense_Mutation_p.R444Q|PCSK6_uc010bpe.2_Missense_Mutation_p.R648Q|PCSK6_uc002bxa.2_Missense_Mutation_p.R648Q|PCSK6_uc002bxb.2_Missense_Mutation_p.R648Q NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 648 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTCCAGCATCCGCGAGCGGGA 0.567 NA 12 19 0 0 0 0 OR4F6 390648 broad.mit.edu 37 15 102346444 102346444 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:102346444A>T uc010utr.1 + 1 522 c.522A>T c.(520-522)TTA>TTT p.L174F NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 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) CTAATGAATTAGATAGTTTCT 0.373 NA 48 80 0 0 0 0 TMEM8A 58986 broad.mit.edu 37 16 422106 422106 + Missense_Mutation SNP C C G rs150493488 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:422106C>G uc002cgu.3 - 13 2326 c.2197G>C c.(2197-2199)GCA>CCA p.A733P MRPL28_uc010bqu.1_5'Flank|MRPL28_uc002cgr.1_5'Flank|MRPL28_uc002cgs.1_5'Flank|MRPL28_uc002cgt.1_5'Flank|TMEM8A_uc002cgv.3_Missense_Mutation_p.A540P NM_021259 NP_067082 Q9HCN3 TMM8A_HUMAN transmembrane protein 8 (five membrane-spanning 733 Helical; (Potential). cell adhesion integral to plasma membrane central_nervous_system(2)|pancreas(1) 3 AGCAAGGCTGCGCTCCCGGCC 0.607 NA 55 62 0 0 0 0 PKD1 5310 broad.mit.edu 37 16 2159077 2159077 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:2159077C>A uc002cos.1 - 15 6300 c.6091G>T c.(6091-6093)GTG>TTG p.V2031L PKD1_uc002cot.1_Missense_Mutation_p.V2031L NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2031 PKD 16.|Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CCCGCGGCCACGGGCGTGTAG 0.677 NA 45 48 2.22e-12 4.09e-12 1 0 PKD1 5310 broad.mit.edu 37 16 2167056 2167056 + Splice_Site SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:2167056T>C uc002cos.1 - 7 1595 c.1386_splice c.e7-1 p.R462_splice PKD1_uc002cot.1_Splice_Site_p.R462_splice NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 TCTAGGCTCCTGGGGGCGGGT 0.522 NA 9 15 0 0 0 0 ABCA3 21 broad.mit.edu 37 16 2329015 2329015 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:2329015C>T uc002cpy.1 - 29 5188 c.4476G>A c.(4474-4476)GGG>GGA p.G1492G ABCA3_uc010bsk.1_Silent_p.G1434G NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1492 ABC transporter 2. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) CCACGCAGGCCCCGATGTGGC 0.652 NA 41 104 0 0 0 0 AMDHD2 51005 broad.mit.edu 37 16 2578355 2578355 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:2578355G>C uc002cqq.2 + 7 933 c.836G>C c.(835-837)CGG>CCG p.R279P AMDHD2_uc002cqp.2_Missense_Mutation_p.R279P|AMDHD2_uc010uwc.1_Missense_Mutation_p.R279P|AMDHD2_uc010uwd.1_Missense_Mutation_p.R43P NM_015944 NP_057028 Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 isoform 1 279 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity skin(2)|large_intestine(1)|breast(1) 4 GCCGCCCTGCGGATCGCCCAC 0.672 NA 15 68 0 0 0 0 MEFV 4210 broad.mit.edu 37 16 3306443 3306443 + Silent SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:3306443T>G uc002cun.1 - 1 185 c.145A>C c.(145-147)AGG>CGG p.R49R NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 49 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) TTCACCGGCCTGGCTCTCTGG 0.602 NA 68 85 0 0 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923416 9923416 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:9923416C>G uc002czo.3 - 9 2419 c.1871G>C c.(1870-1872)GGG>GCG p.G624A GRIN2A_uc010uym.1_Missense_Mutation_p.G624A|GRIN2A_uc010uyn.1_Missense_Mutation_p.G467A|GRIN2A_uc002czr.3_Missense_Mutation_p.G624A NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 624 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCTGGTGGTCCCTTTAGGATT 0.493 NA 18 85 0 0 0 0 CIITA 4261 broad.mit.edu 37 16 10971201 10971201 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:10971201C>T uc002dai.3 + 1 147 c.14C>T c.(13-15)GCT>GTT p.A5V CIITA_uc002daj.3_Missense_Mutation_p.A5V|CIITA_uc002dak.3_Missense_Mutation_p.A5V|CIITA_uc002dag.2_Missense_Mutation_p.A5V|CIITA_uc002dah.2_Missense_Mutation_p.A5V|CIITA_uc010bup.1_Missense_Mutation_p.A5V NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 5 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 CGTTGCCTGGCTCCACGCCCT 0.602 NA T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 6 13 0 0 0 0 LITAF 9516 broad.mit.edu 37 16 11647435 11647435 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:11647435C>A uc002daz.2 - 3 564 c.331G>T c.(331-333)GCC>TCC p.A111S LITAF_uc002dba.2_Missense_Mutation_p.A111S|LITAF_uc002dbb.2_Missense_Mutation_p.A111S|LITAF_uc002dbc.2_Missense_Mutation_p.A111S|LITAF_uc002dbd.2_Missense_Mutation_p.A111S NM_004862 NP_004853 Q99732 LITAF_HUMAN lipopolysaccharide-induced TNF-alpha factor 111 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|lysosomal membrane signal transducer activity|WW domain binding liver(1) 1 AGAGCACCGGCGTTATAGGAC 0.592 NA 13 39 9.31e-06 1.49e-05 1 0 GP2 2813 broad.mit.edu 37 16 20327337 20327337 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:20327337C>A uc002dgv.2 - 10 1534 c.1451G>T c.(1450-1452)AGT>ATT p.S484I GP2_uc002dgw.2_Missense_Mutation_p.S481I|GP2_uc002dgx.2_Missense_Mutation_p.S337I|GP2_uc002dgy.2_Missense_Mutation_p.S334I NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 484 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 CGGTACTTCACTGCGGACTTG 0.483 NA 24 85 2.8e-10 5.02e-10 1 0 PDILT 204474 broad.mit.edu 37 16 20370759 20370759 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:20370759G>C uc002dhc.1 - 12 1860 c.1637C>G c.(1636-1638)TCC>TGC p.S546C NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 546 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 TTCCAGCTTGGATACGTACTT 0.512 NA 50 245 0 0 0 0 ACSM5 54988 broad.mit.edu 37 16 20442556 20442556 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:20442556G>A uc002dhe.2 + 10 1368 c.1221G>A c.(1219-1221)GAG>GAA p.E407E NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 407 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 TGGATGATGAGGGCAACGTCC 0.557 NA 37 129 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 20948070 20948070 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:20948070C>T uc010vbe.1 - 60 11760 c.11760G>A c.(11758-11760)GTG>GTA p.V3920V DNAH3_uc010vbd.1_Silent_p.V1355V NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3920 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GCACTTTACCCACAAGCATGC 0.572 NA 7 17 0 0 0 0 VWA3A 146177 broad.mit.edu 37 16 22126703 22126703 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:22126703A>G uc010vbq.1 + 9 821 c.725A>G c.(724-726)CAG>CGG p.Q242R VWA3A_uc010bxc.2_Missense_Mutation_p.Q229R NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 242 extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) AAGACGCTGCAGCCTGATGGA 0.453 NA 3 17 0 0 0 0 CHP2 63928 broad.mit.edu 37 16 23768878 23768878 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:23768878A>G uc002dmb.1 + 7 988 c.565A>G c.(565-567)AAA>GAA p.K189E NM_022097 NP_071380 O43745 CHP2_HUMAN hepatocellular carcinoma antigen gene 520 189 calcium ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(48;0.0144) CGTTGAGCAAAAAATGAGCAT 0.527 NA 57 177 0 0 0 0 SPN 6693 broad.mit.edu 37 16 29675891 29675891 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:29675891A>C uc002dtm.2 + 2 978 c.842A>C c.(841-843)CAG>CCG p.Q281P uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.Q281P|SPN_uc010bzd.2_RNA NM_001030288 NP_001025459 P16150 LEUK_HUMAN sialophorin precursor 281 Cytoplasmic (Potential). blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2) 2 CGCCGGCGGCAGAAGCGGCGG 0.697 NA 8 20 0 0 0 0 TBX6 6911 broad.mit.edu 37 16 30100304 30100304 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:30100304C>T uc010veh.1 - 4 641 c.581G>A c.(580-582)CGT>CAT p.R194H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.R194H NM_004608 NP_004599 O95947 TBX6_HUMAN T-box 6 194 T-box. anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GAGCTTGACACGATGGAAAGA 0.647 NA 44 122 0 0 0 0 ZNF629 23361 broad.mit.edu 37 16 30794552 30794552 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:30794552C>A uc002dzs.1 - 3 1305 c.1097G>T c.(1096-1098)CGG>CTG p.R366L NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 366 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) CAGGTGAGTCCGCTGGTGCTT 0.662 NA 19 25 2.58e-16 5.08e-16 1 0 SALL1 6299 broad.mit.edu 37 16 51175026 51175026 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:51175026C>G uc010vgs.1 - 2 1138 c.1107G>C c.(1105-1107)GCG>GCC p.A369A SALL1_uc010vgr.1_Silent_p.A272A|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 369 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ATGATGAGACCGCTGGGTTGC 0.512 NA 14 37 0 0 0 0 IRX6 79190 broad.mit.edu 37 16 55360356 55360356 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:55360356T>A uc002ehy.2 + 2 687 c.154T>A c.(154-156)TAC>AAC p.Y52N IRX6_uc002ehx.2_Missense_Mutation_p.Y52N|IRX6_uc010ccb.1_RNA NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 52 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 CTGCGCACCCTACGATAGTCG 0.652 NA 15 15 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65016141 65016141 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:65016141C>T uc002eoi.2 - 8 1497 c.1063G>A c.(1063-1065)GAC>AAC p.D355N CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.D355N|CDH11_uc010vin.1_Missense_Mutation_p.D229N|CDH11_uc002eok.1_RNA NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 355 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AACTTCGGGTCGATGTGCACG 0.468 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 19 22 0 0 0 0 TMED6 146456 broad.mit.edu 37 16 69377541 69377541 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:69377541G>A uc002exc.1 - 4 525 c.492C>T c.(490-492)GAC>GAT p.D164D NM_144676 NP_653277 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain 164 Lumenal (Potential). transport endoplasmic reticulum membrane|integral to membrane ovary(1) 1 TTTGTGTGCCGTCCTATGAGA 0.428 NA 30 29 0 0 0 0 PLCG2 5336 broad.mit.edu 37 16 81979842 81979842 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:81979842G>C uc002fgt.2 + 31 3696 c.3544G>C c.(3544-3546)GTT>CTT p.V1182L NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 1182 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 TTCCCTCCTGGTTTTCTGTGA 0.527 NA 24 44 0 0 0 0 MYO1C 4641 broad.mit.edu 37 17 1386207 1386207 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:1386207T>G uc002fsp.2 - 4 714 c.494A>C c.(493-495)GAG>GCG p.E165A MYO1C_uc002fsn.2_Missense_Mutation_p.E146A|MYO1C_uc002fso.2_Missense_Mutation_p.E130A|MYO1C_uc010vqj.1_Missense_Mutation_p.E130A|MYO1C_uc010vqk.1_Missense_Mutation_p.E141A NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 165 Myosin head-like. E -> Q (in Ref. 1; CAA67131). mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ACCTCCGCGCTCGGGGGCTGG 0.632 NA 13 30 0 0 0 0 SPNS3 201305 broad.mit.edu 37 17 4350211 4350211 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:4350211G>A uc002fxt.2 + 5 619 c.575G>A c.(574-576)GGG>GAG p.G192E SPNS3_uc002fxu.2_Missense_Mutation_p.G65E NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 192 Helical; (Potential). lipid transport|transmembrane transport integral to membrane large_intestine(1) 1 TACGTGCTGGGGTCGGCTGTG 0.652 NA 21 37 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577138 7577138 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:7577138C>G uc002gim.2 - 8 994 c.800G>C c.(799-801)CGG>CCG p.R267P TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 267 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AAAGCTGTTCCGTCCCAGTAG 0.527 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 17 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7689567 7689567 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:7689567C>T uc002giu.1 + 39 6269 c.6255C>T c.(6253-6255)TGC>TGT p.C2085C NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2085 AAA 2 (By similarity).|ATP (Potential). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCGTGGGCTGCACGGGCAGCG 0.577 NA 19 54 0 0 0 0 ALOX12B 242 broad.mit.edu 37 17 7977057 7977057 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:7977057C>G uc002gjy.1 - 13 1934 c.1673G>C c.(1672-1674)CGA>CCA p.R558P NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 558 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 AGGCACGGTTCGCAAGCACCT 0.627 NA Multiple Myeloma(8;0.094) OREG0024152 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 29 0 0 0 0 SPDYE4 388333 broad.mit.edu 37 17 8656718 8656718 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:8656718G>A uc010cnz.1 - 5 752 c.575C>T c.(574-576)CCC>CTC p.P192L NM_001128076 NP_001121548 A6NLX3 SPDE4_HUMAN speedy homolog E4 192 0 ATGGAACAAGGGTCGCTGGGA 0.567 NA 5 14 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10304018 10304018 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10304018G>A uc002gmm.2 - 27 3519 c.3424C>T c.(3424-3426)CTC>TTC p.L1142F uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1142 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TCCCGGGAGAGGTCAGAGCGC 0.582 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 48 119 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10348361 10348361 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10348361G>A uc002gmn.2 - 37 5509 c.5398C>T c.(5398-5400)CGT>TGT p.R1800C uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1800 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TCATCCAGACGGAGCTGCAGA 0.562 NA 60 111 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10354160 10354160 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10354160G>T uc002gmn.2 - 29 4029 c.3918C>A c.(3916-3918)TCC>TCA p.S1306S uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1306 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GTTTGCCTCGGGATAGCTGAG 0.393 NA 31 57 1.56e-20 3.17e-20 1 0 MYH2 4620 broad.mit.edu 37 17 10424725 10424725 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10424725C>T uc010coi.2 - 40 5826 c.5698G>A c.(5698-5700)GCT>ACT p.A1900T uc002gml.1_Intron|MYH1_uc002gmo.2_5'Flank|MYH2_uc002gmp.3_Missense_Mutation_p.A1900T|MYH2_uc010coj.2_Missense_Mutation_p.A667T NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1900 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CGGAATTTAGCTAGATTGGTG 0.473 NA 44 118 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10428788 10428788 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10428788C>T uc010coi.2 - 32 4645 c.4517G>A c.(4516-4518)CGA>CAA p.R1506Q uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1506Q|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1506 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1506*(1) ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTTGTTCTCTCGCTTCAGGGT 0.428 NA 27 74 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10433044 10433044 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10433044G>T uc010coi.2 - 24 3082 c.2954C>A c.(2953-2955)ACA>AAA p.T985K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T985K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 985 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CATCTCTTCTGTGAGGTTTTT 0.478 NA 73 152 4.81e-37 1.02e-36 1 0 DNAH9 1770 broad.mit.edu 37 17 11522951 11522951 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:11522951G>C uc002gne.2 + 6 1271 c.1203G>C c.(1201-1203)TTG>TTC p.L401F NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 401 Potential.|Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAGACACTTTGAGCTTCTTCA 0.443 NA 45 103 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11648295 11648295 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:11648295T>A uc002gne.2 + 31 6361 c.6293T>A c.(6292-6294)TTT>TAT p.F2098Y DNAH9_uc010coo.2_Missense_Mutation_p.F1392Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2098 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGGGACCTCTTTCCCGCCCTG 0.562 NA 18 49 0 0 0 0 MYOCD 93649 broad.mit.edu 37 17 12620739 12620739 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:12620739G>T uc002gnn.2 + 4 552 c.253_splice c.e4+1 p.A85_splice MYOCD_uc002gno.2_Splice_Site_p.A85_splice|MYOCD_uc002gnp.1_5'Flank NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ATACTCCAAGGTAAGGCTGCA 0.443 NA 7 23 0.00198382 0.0028924 1 0 KCNJ12 3768 broad.mit.edu 37 17 21318738 21318738 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:21318738C>T uc002gyv.1 + 3 789 c.84C>T c.(82-84)GCC>GCT p.A28A NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 28 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) TGTCGGGCGCCAACGGCTTCG 0.657 NA Prostate(3;0.18) 5 43 0 0 0 0 CCL7 6354 broad.mit.edu 37 17 32597383 32597383 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:32597383C>A uc002hhz.2 + 1 144 c.74C>A c.(73-75)CCA>CAA p.P25Q CCL7_uc010ctf.2_RNA NM_006273 NP_006264 P80098 CCL7_HUMAN chemokine (C-C motif) ligand 7 precursor 25 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding ovary(1) 1 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) CTTGCTCAGCCAGGTAAGGTC 0.552 NA 24 44 9.96e-16 1.94e-15 1 0 CCL8 6355 broad.mit.edu 37 17 32646545 32646545 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:32646545T>C uc002hib.2 + 1 480 c.25T>C c.(25-27)TGC>CGC p.C9R NM_005623 NP_005614 P80075 CCL8_HUMAN small inducible cytokine A8 precursor 9 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity 0 Ovarian(249;0.0443)|Breast(31;0.151) AGCGCTTCTGTGCCTGCTGCT 0.527 NA 35 49 0 0 0 0 ACACA 31 broad.mit.edu 37 17 35468548 35468548 + Silent SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:35468548T>G uc002hnm.2 - 52 6563 c.6372A>C c.(6370-6372)GTA>GTC p.V2124V ACACA_uc002hnk.2_Silent_p.V2046V|ACACA_uc002hnl.2_Silent_p.V2066V|ACACA_uc002hnn.2_Silent_p.V2124V|ACACA_uc002hno.2_Silent_p.V2161V|ACACA_uc010cuy.2_Silent_p.V769V|ACACA_uc010wdb.1_Silent_p.V162V|ACACA_uc010wdc.1_Silent_p.V250V NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 2124 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) ATTTGATTTCTACTGTCCCTT 0.458 NA 27 71 0 0 0 0 RPL23 9349 broad.mit.edu 37 17 37009953 37009953 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:37009953C>G uc002hqx.1 - 1 101 c.11G>C c.(10-12)CGA>CCA p.R4P RPL23_uc002hqw.1_5'Flank|RPL23_uc002hqy.1_Missense_Mutation_p.R4P|SNORA21_uc002hqz.1_5'Flank NM_000978 NP_000969 P62829 RL23_HUMAN ribosomal protein L23 4 endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome 0 AACCTCACCTCGCTTCGACAT 0.562 NA 5 26 0 0 0 0 KRT25 147183 broad.mit.edu 37 17 38910665 38910665 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:38910665C>T uc002hve.2 - 2 546 c.485G>A c.(484-486)AGG>AAG p.R162K NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 162 Rod.|Coil 1B. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) AGCTGTAAGCCTGGCATTATC 0.393 NA 27 73 0 0 0 0 KRT12 3859 broad.mit.edu 37 17 39019473 39019473 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:39019473C>A uc002hvk.2 - 6 1242 c.1218G>T c.(1216-1218)GAG>GAT p.E406D NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 406 Rod.|Coil 2. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) CGTTCTGGCGCTCTGCGTCCG 0.672 NA 18 26 3.33e-07 5.55e-07 1 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190992 39190992 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:39190992T>C uc002hvv.2 - 1 116 c.82A>G c.(82-84)AGC>GGC p.S28G NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 28 extracellular region|keratin filament structural constituent of epidermis 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TCACAGCAGCTTGGCTGGCAG 0.597 NA 34 57 0 0 0 0 KRT33B 3884 broad.mit.edu 37 17 39521745 39521745 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:39521745G>T uc002hwl.2 - 4 694 c.649C>A c.(649-651)CCC>ACC p.P217T NM_002279 NP_002270 Q14525 KT33B_HUMAN type I hair keratin 3B 217 Linker 12.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) TCCACAGCGGGAGCAGCGTCC 0.557 NA 17 49 4.15e-12 7.62e-12 1 0 KRT34 3885 broad.mit.edu 37 17 39535393 39535393 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:39535393C>A uc002hwm.2 - 6 1050 c.1038G>T c.(1036-1038)GAG>GAT p.E346D NM_021013 NP_066293 O76011 KRT34_HUMAN keratin 34 346 Rod.|Coil 2. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1) 1 Breast(137;0.000496) TGTAGTGGGCCTCGCTCTCCG 0.577 NA 39 65 3.66e-28 7.66e-28 1 0 FAM134C 162427 broad.mit.edu 37 17 40734205 40734205 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:40734205G>C uc002ial.2 - 9 1130 c.1027C>G c.(1027-1029)CTG>GTG p.L343V FAM134C_uc010wgq.1_Missense_Mutation_p.L143V|FAM134C_uc002iam.1_Missense_Mutation_p.L143V|FAM134C_uc010cyk.1_Missense_Mutation_p.L246V NM_178126 NP_835227 Q86VR2 F134C_HUMAN hypothetical protein LOC162427 343 integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) TCATCATCCAGGCCAGCAGGA 0.567 NA 39 90 0 0 0 0 RUNDC1 146923 broad.mit.edu 37 17 41133041 41133041 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:41133041G>C uc002ici.1 + 1 460 c.448G>C c.(448-450)GAG>CAG p.E150Q AARSD1_uc002icd.2_5'Flank|AARSD1_uc002ice.2_5'Flank|AARSD1_uc002icf.2_5'Flank|AARSD1_uc010whg.1_5'Flank|AARSD1_uc002icg.2_5'Flank|AARSD1_uc002ich.2_5'Flank|AARSD1_uc010whh.1_5'Flank|RUNDC1_uc010whi.1_5'UTR NM_173079 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 150 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) CGCCAGCGATGAGGGCGATGG 0.697 NA 4 6 0 0 0 0 ADAM11 4185 broad.mit.edu 37 17 42854579 42854579 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:42854579C>T uc002ihh.2 + 21 1727 c.1727C>T c.(1726-1728)ACG>ATG p.T576M ADAM11_uc010wjd.1_Missense_Mutation_p.T376M|ADAM11_uc002ihi.2_5'Flank NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 576 Cys-rich.|Extracellular (Potential). integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) GTGGAGGGGACGGAGCGTGGG 0.647 NA 9 35 0 0 0 0 EFTUD2 9343 broad.mit.edu 37 17 42931930 42931931 + Missense_Mutation DNP GG GG AA TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:42931930_42931931GG>AA uc002ihn.2 - 22 2513_2514 c.2252_2253CC>TT c.(2251-2253)CCC>CTT p.P751L EFTUD2_uc010wje.1_Missense_Mutation_p.P716L|EFTUD2_uc010wjf.1_Missense_Mutation_p.P741L NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 751 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) GTACCTCAGAGGGCAGAGTATC 0.52 NA 26 101 0 0 0 0 UTP18 51096 broad.mit.edu 37 17 49353297 49353297 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:49353297C>A uc002its.2 + 6 831 c.782C>A c.(781-783)CCC>CAC p.P261H NM_016001 NP_057085 Q9Y5J1 UTP18_HUMAN UTP18, small subunit processome component 261 WD 1. rRNA processing nucleolus 0 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) CAGTTCCATCCCGGTGCACAG 0.383 NA 14 21 2.32e-09 4.08e-09 1 0 MSI2 124540 broad.mit.edu 37 17 55607074 55607074 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:55607074A>G uc002iuz.1 + 7 616 c.443A>G c.(442-444)AAC>AGC p.N148S MSI2_uc010wnm.1_Missense_Mutation_p.N126S|MSI2_uc002iva.2_Missense_Mutation_p.N144S NM_138962 NP_620412 Q96DH6 MSI2H_HUMAN musashi 2 isoform a 148 RRM 2. cytoplasm nucleotide binding|RNA binding p.N144S(1) central_nervous_system(1)|pancreas(1) 2 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) AAAACTACCAACAGGCACAGA 0.308 NA T HOXA9 CML 13 30 0 0 0 0 C17orf47 284083 broad.mit.edu 37 17 56619276 56619276 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:56619276C>A uc002iwq.1 - 2 1749 c.1613G>T c.(1612-1614)TGC>TTC p.C538F SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 538 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAGGGAAAAGCACAGACCTTT 0.493 NA 46 102 2.01e-17 3.98e-17 1 0 CCDC47 57003 broad.mit.edu 37 17 61833679 61833679 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:61833679C>A uc002jbs.3 - 8 1205 c.869G>T c.(868-870)GGA>GTA p.G290V CCDC47_uc010ddx.2_Missense_Mutation_p.G290V|CCDC47_uc002jbt.2_Missense_Mutation_p.G290V NM_020198 NP_064583 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 precursor 290 integral to membrane protein binding 0 ATACTTTGCTCCAGACTTAGG 0.408 NA 21 49 2.38e-13 4.46e-13 1 0 CCDC47 57003 broad.mit.edu 37 17 61843413 61843413 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:61843413T>C uc002jbs.3 - 2 459 c.123A>G c.(121-123)GAA>GAG p.E41E CCDC47_uc010ddx.2_Silent_p.E41E|CCDC47_uc002jbt.2_Silent_p.E41E NM_020198 NP_064583 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 precursor 41 integral to membrane protein binding 0 CATCCTCAAATTCAGCGAAGT 0.443 NA 59 129 0 0 0 0 RGS9 8787 broad.mit.edu 37 17 63206682 63206682 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:63206682G>T uc002jfe.2 + 17 1476 c.1366G>T c.(1366-1368)GCC>TCC p.A456S RGS9_uc010dem.2_Missense_Mutation_p.A453S|RGS9_uc002jfd.2_Missense_Mutation_p.A453S|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.A227S NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 456 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 GGAAGAGGAAGCCAAGGCCCG 0.567 NA 28 69 1.55e-18 3.12e-18 1 0 HELZ 9931 broad.mit.edu 37 17 65119097 65119097 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:65119097C>T uc010wqk.1 - 26 3809 c.3622G>A c.(3622-3624)GTG>ATG p.V1208M HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.V1207M NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GGTAAAGGCACCGACATAACT 0.378 NA 11 47 0 0 0 0 HELZ 9931 broad.mit.edu 37 17 65162623 65162623 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:65162623C>T uc010wqk.1 - 15 2053 c.1866G>A c.(1864-1866)ATG>ATA p.M622I HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.M622I NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGGTGGGAGTCATACTGATGT 0.363 NA 20 44 0 0 0 0 NOL11 25926 broad.mit.edu 37 17 65717512 65717512 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:65717512A>G uc002jgd.1 + 4 334 c.331A>G c.(331-333)AGG>GGG p.R111G NOL11_uc010wql.1_Translation_Start_Site|NOL11_uc010deu.1_Translation_Start_Site NM_015462 NP_056277 Q9H8H0 NOL11_HUMAN nucleolar protein 11 111 nucleolus 0 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) AGAAGTATATAGGATACTTTC 0.358 NA 16 61 0 0 0 0 ABCA8 10351 broad.mit.edu 37 17 66871844 66871844 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:66871844C>G uc002jhp.2 - 34 4460 c.4281G>C c.(4279-4281)ACG>ACC p.T1427T ABCA8_uc002jhq.2_Silent_p.T1467T|ABCA8_uc010wqq.1_Silent_p.T1462T NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 1427 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CACCCCTTTCCGTGTTTCTAA 0.488 NA 12 32 0 0 0 0 DNAI2 64446 broad.mit.edu 37 17 72301505 72301505 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:72301505A>T uc002jkf.2 + 9 1234 c.1135A>T c.(1135-1137)AAC>TAC p.N379Y DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 379 WD 4. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 CTACCCGAAGAACTTCCTGAC 0.577 NA Kartagener_syndrome 34 36 0 0 0 0 LLGL2 3993 broad.mit.edu 37 17 73569302 73569302 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:73569302A>G uc002joh.2 + 20 2822 c.2668A>G c.(2668-2670)ATC>GTC p.I890V LLGL2_uc002joi.2_Missense_Mutation_p.I890V|LLGL2_uc010dgg.1_Missense_Mutation_p.I890V|LLGL2_uc002joj.2_Missense_Mutation_p.I879V|LLGL2_uc010wsd.1_Missense_Mutation_p.I517V NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 890 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CTACAGCTGCATCCGCCGGGA 0.662 NA 28 59 0 0 0 0 AFMID 125061 broad.mit.edu 37 17 76200969 76200969 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:76200969A>G uc002jva.3 + 6 470 c.455A>G c.(454-456)TAT>TGT p.Y152C AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Missense_Mutation_p.Y152C NM_001010982 NP_001010982 Q63HM1 AFMID_HUMAN arylformamidase isoform 1 152 cytosol|nucleus arylformamidase activity large_intestine(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CAGAAGCGGTATCCAAGCAAC 0.557 NA 11 26 0 0 0 0 AZI1 22994 broad.mit.edu 37 17 79176070 79176070 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:79176070C>A uc002jzp.1 - 7 958 c.758G>T c.(757-759)CGG>CTG p.R253L AZI1_uc002jzn.1_Missense_Mutation_p.R253L|AZI1_uc002jzo.1_Missense_Mutation_p.R253L|AZI1_uc010wum.1_Missense_Mutation_p.R253L NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 253 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CACCTCCTTCCGCCTGGGCAA 0.652 NA 16 48 1.15e-07 1.93e-07 1 0 FN3K 64122 broad.mit.edu 37 17 80699208 80699208 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:80699208A>T uc010wvs.1 + 4 468 c.407A>T c.(406-408)GAG>GTG p.E136V FN3K_uc002kfw.1_Missense_Mutation_p.E91V NM_022158 NP_071441 Q9H479 FN3K_HUMAN fructosamine 3 kinase 136 fructoselysine metabolic process fructosamine-3-kinase activity 0 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GAGGGTGCTGAGCCTCAGTAT 0.552 NA 8 9 0 0 0 0 TBCD 6904 broad.mit.edu 37 17 80885196 80885196 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:80885196C>T uc002kfz.2 + 29 2736 c.2606C>T c.(2605-2607)ACC>ATC p.T869I TBCD_uc002kfy.1_Missense_Mutation_p.T869I|TBCD_uc002kgb.1_Missense_Mutation_p.T194I|TBCD_uc002kgc.2_Missense_Mutation_p.T14I|TBCD_uc002kgd.2_5'Flank NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 869 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GACGTGGGCACCTGGTACGTA 0.572 NA 6 15 0 0 0 0 CETN1 1068 broad.mit.edu 37 18 580859 580859 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:580859C>T uc002kko.1 + 1 493 c.451C>T c.(451-453)CGG>TGG p.R151W NM_004066 NP_004057 Q12798 CETN1_HUMAN centrin 1 151 2 (Probable).|EF-hand 4. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding upper_aerodigestive_tract(1)|ovary(1) 2 CGAAGCTGATCGGGATGGGGA 0.547 NA 46 173 0 0 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891787 5891787 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:5891787C>T uc002kmx.1 - 1 317 c.276G>A c.(274-276)GCG>GCA p.A92A NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 92 integral to membrane 0 GGCTGCTGCCCGCAGGCGGCA 0.672 NA 12 131 0 0 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6876197 6876197 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:6876197C>A uc010wzi.1 + 9 987 c.749C>A c.(748-750)GCT>GAT p.A250D ARHGAP28_uc002knc.2_Missense_Mutation_p.A375D|ARHGAP28_uc002knd.2_Missense_Mutation_p.A268D|ARHGAP28_uc002kne.2_Missense_Mutation_p.A268D|ARHGAP28_uc002knf.2_Missense_Mutation_p.A259D B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 250 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) GGATGTACTGCTAAAGTCAAG 0.388 NA 65 63 5.26e-25 1.1e-24 1 0 LAMA1 284217 broad.mit.edu 37 18 7024446 7024446 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:7024446G>A uc002knm.2 - 18 2516 c.2422C>T c.(2422-2424)CTC>TTC p.L808F LAMA1_uc010wzj.1_Missense_Mutation_p.L284F NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 808 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCATCATTGAGGTGGCAGGTG 0.438 NA 8 73 0 0 0 0 PTPRM 5797 broad.mit.edu 37 18 8379247 8379247 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:8379247G>T uc002knn.3 + 26 4159 c.3656G>T c.(3655-3657)TGC>TTC p.C1219F PTPRM_uc010dkv.2_Missense_Mutation_p.C1232F|PTPRM_uc010wzl.1_Missense_Mutation_p.C1006F NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1219 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) AAAAACCGGTGCATGGACATC 0.567 NA 35 153 1.08e-12 2e-12 1 0 TXNDC2 84203 broad.mit.edu 37 18 9887082 9887082 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:9887082C>G uc002koi.3 + 2 1055 c.606C>G c.(604-606)ATC>ATG p.I202M TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.I135M NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 202 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|6. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 AAGAAGCCATCCAGCCCAAAG 0.577 NA 55 534 0 0 0 0 MC5R 4161 broad.mit.edu 37 18 13826509 13826509 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:13826509G>A uc010xaf.1 + 1 745 c.745G>A c.(745-747)GTG>ATG p.V249M NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 249 Helical; Name=6; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 CGTGTTTACCGTGTGCTGGGC 0.587 NA 50 417 0 0 0 0 ZNF519 162655 broad.mit.edu 37 18 14105881 14105881 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:14105881G>A uc002kst.1 - 3 811 c.658C>T c.(658-660)CCA>TCA p.P220S ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron NM_145287 NP_660330 Q8TB69 ZN519_HUMAN zinc finger protein 519 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTTGAGAATGGGTCAGAAGTT 0.299 NA 15 167 0 0 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14822494 14822494 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:14822494A>T uc010dlo.2 + 25 2477 c.2297A>T c.(2296-2298)AAA>ATA p.K766I NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 851 ovary(1)|skin(1) 2 TCTCCTGATAAAGATGGTCTT 0.274 NA 7 65 0 0 0 0 ROCK1 6093 broad.mit.edu 37 18 18572799 18572799 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:18572799G>A uc002kte.2 - 17 2926 c.1985C>T c.(1984-1986)TCA>TTA p.S662L NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 662 Glu-rich.|Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) TACCTTTTCTGAGTGATTAAG 0.303 NA 20 20 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31323688 31323688 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:31323688C>A uc010dmg.1 + 12 3931 c.3876C>A c.(3874-3876)TGC>TGA p.C1292* ASXL3_uc002kxq.2_Nonsense_Mutation_p.C999* NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1292 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 ACACTCCATGCATAGCCATTA 0.393 NA 68 53 1.72e-30 3.62e-30 1 0 SLC14A2 8170 broad.mit.edu 37 18 43253684 43253684 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:43253684T>A uc010dnj.2 + 19 2735 c.2414T>A c.(2413-2415)TTC>TAC p.F805Y SLC14A2_uc002lbe.2_Missense_Mutation_p.F805Y NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 805 Helical; (Potential). apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TCCATCTACTTCGGCCTGTGT 0.587 NA 41 32 0 0 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560992 44560992 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:44560992G>T uc002lcr.1 - 1 997 c.644C>A c.(643-645)CCC>CAC p.P215H KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 215 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 TTTCCCCTGGGGTTGGCCCTG 0.662 NA 22 9 2.01e-23 4.16e-23 1 0 ME2 4200 broad.mit.edu 37 18 48439273 48439273 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:48439273G>T uc002ley.2 + 4 601 c.345G>T c.(343-345)ACG>ACT p.T115T ME2_uc010dpd.2_Silent_p.T115T NM_002396 NP_002387 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 115 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding 0 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) ATACACCGACGGTTGGTCTTG 0.323 NA 66 54 1.18e-34 2.5e-34 1 0 DCC 1630 broad.mit.edu 37 18 51013297 51013297 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:51013297G>T uc002lfe.1 + 26 4454 c.3867G>T c.(3865-3867)GTG>GTT p.V1289V DCC_uc010dpf.1_Silent_p.V924V NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1289 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CACTCTCAGTGGACCGAGGTT 0.473 NA 42 35 2.27e-22 4.66e-22 1 0 CDH20 28316 broad.mit.edu 37 18 59203814 59203814 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:59203814C>T uc010dps.1 + 7 1372 c.1360C>T c.(1360-1362)CGG>TGG p.R454W CDH20_uc002lif.2_Missense_Mutation_p.R448W NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 454 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) ACCCCTAGACCGGGAAGAATT 0.408 NA 52 55 0 0 0 0 CD226 10666 broad.mit.edu 37 18 67562961 67562961 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:67562961C>A uc010dqo.2 - 3 1150 c.703G>T c.(703-705)GTG>TTG p.V235L CD226_uc002lkm.3_Missense_Mutation_p.V235L NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 235 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) AATCTCATCACGAAGGTTTCG 0.532 NA 84 72 1.29e-55 2.76e-55 1 0 NETO1 81832 broad.mit.edu 37 18 70417315 70417315 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:70417315T>A uc002lkw.2 - 9 1807 c.1523A>T c.(1522-1524)CAC>CTC p.H508L NETO1_uc002lkx.1_Missense_Mutation_p.H507L|NETO1_uc002lky.1_Missense_Mutation_p.H508L NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 508 Cytoplasmic (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GGCTTTATCGTGTCTGGACAG 0.438 NA 26 25 0 0 0 0 CDC34 997 broad.mit.edu 37 19 541375 541375 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:541375T>C uc002lov.2 + 5 733 c.534T>C c.(532-534)CGT>CGC p.R178R GZMM_uc002low.1_5'Flank NM_004359 NP_004350 P49427 UB2R1_HUMAN ubiquitin-conjugating enzyme Cdc34 178 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity 0 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGCGGAGCGTGACGGCGTGA 0.706 NA 6 11 0 0 0 0 PALM 5064 broad.mit.edu 37 19 746513 746513 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:746513C>A uc002lpm.1 + 9 1057 c.863C>A c.(862-864)CCG>CAG p.P288Q PALM_uc002lpn.1_Missense_Mutation_p.P244Q|PALM_uc010xfu.1_Missense_Mutation_p.P153Q NM_002579 NP_002570 O75781 PALM_HUMAN paralemmin isoform 1 288 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) TCCGGCCCGCCGGGGATCCAG 0.697 NA 10 40 3.86e-05 6e-05 1 0 DIRAS1 148252 broad.mit.edu 37 19 2717513 2717513 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:2717513C>T uc002lwf.3 - 2 450 c.292G>A c.(292-294)GGG>AGG p.G98R NM_145173 NP_660156 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 98 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TAGATGGGCCCCAGCTCCTCC 0.627 NA 17 26 0 0 0 0 TLE2 7089 broad.mit.edu 37 19 3015720 3015720 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:3015720C>G uc002lww.2 - 9 872 c.609G>C c.(607-609)GAG>GAC p.E203D TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Missense_Mutation_p.E204D|TLE2_uc010xhc.1_Missense_Mutation_p.E81D|TLE2_uc010dti.2_Missense_Mutation_p.E217D|TLE2_uc010xhd.1_Missense_Mutation_p.E111D NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 203 CCN domain. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGGTCGCTCCTCCTCCACGA 0.632 NA 8 12 0 0 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3653452 3653452 + Missense_Mutation SNP C C G rs121908315 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:3653452C>G uc002lyj.1 - 7 814 c.757G>C c.(757-759)GAC>CAC p.D253H PIP5K1C_uc010xhq.1_Missense_Mutation_p.D253H|PIP5K1C_uc010xhr.1_Missense_Mutation_p.D253H NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 253 PIPK. D -> N (in LCCS3; loss of activity). axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) CCCTTGAGGTCGAACTTGAGG 0.587 NA 21 61 0 0 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4054160 4054160 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:4054160G>T uc002lzh.2 - 2 1146 c.1071C>A c.(1069-1071)AGC>AGA p.S357R ZBTB7A_uc002lzi.2_Missense_Mutation_p.S357R NM_015898 NP_056982 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 357 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding pancreas(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) CGTGGGCGCCGCTGAAGTACT 0.537 NA 20 44 7.42e-09 1.28e-08 1 0 ZBTB7A 51341 broad.mit.edu 37 19 4054266 4054266 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:4054266T>A uc002lzh.2 - 2 1040 c.965A>T c.(964-966)CAG>CTG p.Q322L ZBTB7A_uc002lzi.2_Missense_Mutation_p.Q322L NM_015898 NP_056982 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 322 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding pancreas(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) TGACATCATCTGCTGCAGCAG 0.602 NA 4 15 0 0 0 0 ARRDC5 645432 broad.mit.edu 37 19 4891178 4891178 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:4891178C>A uc002mbm.2 - 3 909 c.909G>T c.(907-909)TGG>TGT p.W303C NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 303 signal transduction 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) TGGTCAGGGACCAGGGCAGGT 0.607 NA 52 132 2.3e-20 4.68e-20 1 0 KDM4B 23030 broad.mit.edu 37 19 5082396 5082396 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:5082396G>T uc002mbq.3 + 9 1025 c.799G>T c.(799-801)GAA>TAA p.E267* KDM4B_uc010xil.1_Nonsense_Mutation_p.E267*|KDM4B_uc010xim.1_Nonsense_Mutation_p.E267*|KDM4B_uc002mbr.3_Nonsense_Mutation_p.E25* NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 267 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 GGAGGCCGGGGAATTCATGAT 0.597 NA 11 23 9.7e-10 1.72e-09 1 0 C3 718 broad.mit.edu 37 19 6686804 6686804 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:6686804C>G uc002mfm.2 - 28 3661 c.3599G>C c.(3598-3600)GGC>GCC p.G1200A C3_uc002mfl.2_5'UTR NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1200 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTTCAGCCTGCCCATCTGGGC 0.542 NA 71 163 0 0 0 0 TIMM44 10469 broad.mit.edu 37 19 7999066 7999066 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:7999066C>A uc002miz.2 - 5 453 c.451G>T c.(451-453)GAA>TAA p.E151* TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA NM_006351 NP_006342 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 151 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 TTGGCTGCTTCCTCCACGCCC 0.622 NA 32 103 9.94e-08 1.68e-07 1 0 FBN3 84467 broad.mit.edu 37 19 8206823 8206824 + Splice_Site DNP CC CC AA TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:8206823_8206824CC>AA uc002mjf.2 - 6 760 c.739_splice c.e6+1 p.D247_splice NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCACTATTCACCTTGGCAGGCC 0.634 NA 12 48 0 0 0 0 MYO1F 4542 broad.mit.edu 37 19 8587264 8587264 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:8587264C>T uc002mkg.2 - 27 3331 c.3217G>A c.(3217-3219)GAA>AAA p.E1073K NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 1073 SH3. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 CACACACCTTCCATGAGGATC 0.453 NA 12 27 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9015728 9015728 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:9015728C>A uc002mkp.2 - 29 38299 c.38095G>T c.(38095-38097)GTG>TTG p.V12699L MUC16_uc010xki.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12701 SEA 5.|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 GTGAACGGCACCAGGAGAGGG 0.458 NA 35 113 0.000109025 0.000166631 1 0 MUC16 94025 broad.mit.edu 37 19 9059286 9059286 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:9059286G>A uc002mkp.2 - 3 28364 c.28160C>T c.(28159-28161)TCA>TTA p.S9387L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9389 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 GGCTGTGCTTGATGAGTCCAA 0.527 NA 35 103 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9059658 9059658 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:9059658G>C uc002mkp.2 - 3 27992 c.27788C>G c.(27787-27789)ACA>AGA p.T9263R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9265 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 GAGAACATTTGTATCTCCTGT 0.473 NA 29 90 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9071927 9071927 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:9071927A>G uc002mkp.2 - 3 15723 c.15519T>C c.(15517-15519)GGT>GGC p.G5173G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5175 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 TCTCAGAGGAACCATGCACTG 0.498 NA 70 242 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9075894 9075894 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:9075894T>A uc002mkp.2 - 3 11756 c.11552A>T c.(11551-11553)CAG>CTG p.Q3851L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3852 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 CCCTTGTCTCTGAAAAGTTGC 0.502 NA 34 67 0 0 0 0 TYK2 7297 broad.mit.edu 37 19 10475629 10475629 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:10475629C>T uc002moc.3 - 8 1485 c.1107G>A c.(1105-1107)CCG>CCA p.P369P TYK2_uc010dxe.2_Silent_p.P184P|TYK2_uc002mod.2_Silent_p.P369P NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 369 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GTGGCTCCCGCGGCCTGTCTG 0.617 NA 20 43 0 0 0 0 SMARCA4 6597 broad.mit.edu 37 19 11144853 11144853 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:11144853G>T uc002mqf.3 + 28 4212 c.3928G>T c.(3928-3930)GAG>TAG p.E1310* SMARCA4_uc010dxp.2_Nonsense_Mutation_p.E1310*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.E1310*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.E1277*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.E1277*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.E1277*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.E1277*|SMARCA4_uc010dxt.1_Nonsense_Mutation_p.E497*|SMARCA4_uc002mqh.3_Nonsense_Mutation_p.E400*|SMARCA4_uc002mqi.1_Nonsense_Mutation_p.E480* NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1310 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.E1310*(2) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGCCCGGCACGAGGAGGAGTT 0.597 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 24 44 2.22e-12 4.09e-12 1 0 ZNF625 90589 broad.mit.edu 37 19 12256682 12256682 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:12256682T>A uc002mth.2 - 4 701 c.351A>T c.(349-351)ATA>ATT p.I117I ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.I151I NM_145233 NP_660276 Q96I27 ZN625_HUMAN zinc finger protein 625 117 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACTGTGCATTATCCTGTGTC 0.433 NA 32 89 0 0 0 0 CACNA1A 773 broad.mit.edu 37 19 13340911 13340911 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:13340911T>C uc010dze.2 - 36 5752 c.5516A>G c.(5515-5517)TAT>TGT p.Y1839C CACNA1A_uc010xnd.1_Missense_Mutation_p.Y544C|CACNA1A_uc002mwx.3_Missense_Mutation_p.Y544C|CACNA1A_uc010dzc.2_Missense_Mutation_p.Y1364C|CACNA1A_uc002mwy.3_Missense_Mutation_p.Y1838C|CACNA1A_uc002mwv.3_Missense_Mutation_p.Y355C NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1839 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGCGGGGTCATACTCGGCCCA 0.587 NA 9 13 0 0 0 0 RFX1 5989 broad.mit.edu 37 19 14094399 14094399 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:14094399T>G uc002mxv.2 - 3 600 c.328A>C c.(328-330)ATG>CTG p.M110L RFX1_uc010dzi.2_Missense_Mutation_p.M110L NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 110 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CTGGCCCGCATGGCACCTTCT 0.672 NA 3 10 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22940748 22940748 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:22940748C>T uc010xrh.1 - 5 1690 c.1690G>A c.(1690-1692)GGT>AGT p.G564S NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAAGCTTTACCACATTCTTCA 0.378 NA 11 49 0 0 0 0 ZNF254 9534 broad.mit.edu 37 19 24309076 24309076 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:24309076C>T uc002nru.2 + 4 408 c.274C>T c.(274-276)CAA>TAA p.Q92* ZNF254_uc010xrk.1_Nonsense_Mutation_p.Q7* NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 92 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TCATTTTGCTCAAGACCTTTG 0.308 NA 7 30 0 0 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769884 31769884 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:31769884T>A uc002nsy.3 - 2 880 c.815A>T c.(814-816)CAG>CTG p.Q272L NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 272 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CAGCACCTTCTGGGCGTCTTC 0.512 NA 44 148 0 0 0 0 ZNF507 22847 broad.mit.edu 37 19 32844667 32844667 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:32844667G>A uc002nte.2 + 3 1203 c.931G>A c.(931-933)GAG>AAG p.E311K ZNF507_uc002ntc.2_Missense_Mutation_p.E311K|ZNF507_uc010xrn.1_Missense_Mutation_p.E311K|ZNF507_uc002ntd.2_Missense_Mutation_p.E311K NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) TGCTATTGGAGAGAGTGAACT 0.473 NA 47 159 0 0 0 0 FXYD3 5349 broad.mit.edu 37 19 35613703 35613703 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:35613703C>G uc010xsn.1 + 7 458 c.132C>G c.(130-132)TGC>TGG p.C44W FXYD3_uc010xsl.1_Missense_Mutation_p.C44W|FXYD3_uc010xsm.1_Missense_Mutation_p.C101W|FXYD3_uc002nxw.2_Missense_Mutation_p.C44W|FXYD3_uc002nxv.2_Missense_Mutation_p.C44W|FXYD3_uc010xso.1_Missense_Mutation_p.C44W NM_001136011 NP_001129483 Q14802 FXYD3_HUMAN FXYD domain containing ion transport regulator 3 44 Helical; (Potential). chloride channel complex|integral to plasma membrane chloride channel activity 0 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GGCTCATCTGCGCTGGGGTTC 0.637 NA 32 75 0 0 0 0 KIRREL2 84063 broad.mit.edu 37 19 36357124 36357124 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:36357124T>C uc002ocb.3 + 15 2069 c.1857T>C c.(1855-1857)CCT>CCC p.P619P KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Silent_p.P566P|KIRREL2_uc002ocd.3_Silent_p.P581P|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 619 Cytoplasmic (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCGAAGCCCCTGGAGGAGGTC 0.607 NA 20 88 0 0 0 0 ZNF540 163255 broad.mit.edu 37 19 38103945 38103945 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:38103945T>A uc002ogq.2 + 5 2096 c.1764T>A c.(1762-1764)TTT>TTA p.F588L ZNF540_uc002ogu.2_Missense_Mutation_p.F588L|ZNF540_uc010efq.2_Missense_Mutation_p.F556L NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 588 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGAAGGCCTTTAGTCGTAGTG 0.408 NA 18 51 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 38956797 38956797 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:38956797G>C uc002oit.2 + 24 3067 c.2937G>C c.(2935-2937)GCG>GCC p.A979A RYR1_uc002oiu.2_Silent_p.A979A NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 979 2.|Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGACGCCGGCGCAGACGACAC 0.652 NA 7 18 0 0 0 0 HIPK4 147746 broad.mit.edu 37 19 40886623 40886623 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:40886623G>T uc002onp.2 - 3 1560 c.1275C>A c.(1273-1275)GCC>GCA p.A425A NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 425 cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) GCTGGTCGATGGCTCTTTGCA 0.617 NA 41 79 9.86e-28 2.06e-27 1 0 CYP2B6 1555 broad.mit.edu 37 19 41516003 41516003 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:41516003C>T uc002opr.1 + 6 934 c.927C>T c.(925-927)TAC>TAT p.Y309Y CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 309 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CTCTCCGCTACGGCTTCCTGC 0.562 NA 14 68 0 0 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190981 42190981 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:42190981A>T uc002ori.1 - 2 238 c.236T>A c.(235-237)ATT>AAT p.I79N CEACAM7_uc010ehx.2_Missense_Mutation_p.I79N|CEACAM7_uc010ehy.1_Missense_Mutation_p.I79N NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 79 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) ATATCCTATAATTCGATAGTT 0.458 NA 46 116 0 0 0 0 PSG6 5675 broad.mit.edu 37 19 43529181 43529181 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:43529181G>T uc002ovh.1 - 2 199 c.110C>A c.(109-111)CCT>CAT p.P37H PSG11_uc002ouw.2_Missense_Mutation_p.P37H|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.P37H|PSG11_uc002ovm.1_Missense_Mutation_p.P31H|PSG11_uc002ovn.1_Missense_Mutation_p.P37H|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron Q00889 PSG6_HUMAN SubName: Full=Putative uncharacterized protein PSG6; 31 female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) GGCAGTGGTAGGCAAGTTCCA 0.483 NA 50 153 4.01e-20 8.14e-20 1 0 PSG6 5675 broad.mit.edu 37 19 43585036 43585036 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:43585036A>G uc002ovi.2 - 2 520 c.427T>C c.(427-429)TAC>CAC p.Y143H PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.Y143H|PSG2_uc002ovq.3_Missense_Mutation_p.Y143H|PSG2_uc010eiq.1_Missense_Mutation_p.Y143H|PSG2_uc002ovs.3_Missense_Mutation_p.Y143H|PSG2_uc002ovt.3_Missense_Mutation_p.Y143H Q00889 PSG6_HUMAN SubName: Full=Putative uncharacterized protein PSG6; 142 Ig-like V-type. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) CACTTACGGTATAAGGTGAAG 0.507 NA 37 131 0 0 0 0 XRCC1 7515 broad.mit.edu 37 19 44051050 44051050 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:44051050T>A uc002owt.2 - 11 1399 c.1279A>T c.(1279-1281)AAG>TAG p.K427* XRCC1_uc010xwp.1_Nonsense_Mutation_p.K396* NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 427 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1) 7 Prostate(69;0.0153) TGAGGAAGCTTGGGGGCTTCA 0.617 NA Other_BER_factors 18 64 0 0 0 0 CADM4 199731 broad.mit.edu 37 19 44131332 44131332 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:44131332G>T uc002oxc.1 - 3 399 c.350C>A c.(349-351)ACG>AAG p.T117K NM_145296 NP_660339 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 precursor 117 Ig-like V-type.|Extracellular (Potential). cell adhesion integral to membrane 0 Prostate(69;0.0199) TACCGTGAGCGTGGCAATCTG 0.498 NA 26 71 2.46e-21 5.02e-21 1 0 OPA3 80207 broad.mit.edu 37 19 46056875 46056875 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:46056875T>A uc002pck.3 - 2 537 c.437A>T c.(436-438)CAG>CTG p.Q146L OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.Q93L NM_025136 NP_079412 Q9H6K4 OPA3_HUMAN OPA3 protein isoform b 146 Potential. response to stimulus|visual perception mitochondrion 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) CAGGGCGCCCTGTGGCGGCGC 0.716 NA 13 39 0 0 0 0 DMWD 1762 broad.mit.edu 37 19 46290016 46290016 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:46290016G>A uc002pdj.1 - 3 784 c.738C>T c.(736-738)CCC>CCT p.P246P DMWD_uc002pdk.1_Silent_p.P246P|DMWD_uc010eko.1_5'UTR NM_004943 NP_004934 Q09019 DMWD_HUMAN dystrophia myotonica-containing WD repeat motif 246 WD 1. meiosis 0 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CCGAGGCGCAGGGGTGGCTGA 0.627 NA 22 43 0 0 0 0 GRLF1 2909 broad.mit.edu 37 19 47503715 47503715 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:47503715A>G uc010ekv.2 + 6 4270 c.4270A>G c.(4270-4272)ATC>GTC p.I1424V NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1424 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) CTACCAGACAATCATTGAACT 0.592 NA 60 146 0 0 0 0 KPTN 11133 broad.mit.edu 37 19 47978726 47978726 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:47978726G>T uc002pgy.2 - 12 1362 c.1258C>A c.(1258-1260)CAG>AAG p.Q420K KPTN_uc010xys.1_RNA NM_007059 NP_008990 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 420 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding ovary(1) 1 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) TCCAACCCCTGTAGCCGACGT 0.612 NA 10 20 3.86e-05 6e-05 1 0 CRX 1406 broad.mit.edu 37 19 48339545 48339545 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:48339545G>A uc002phq.3 + 3 350 c.146G>A c.(145-147)AGC>AAC p.S49N CRX_uc010elm.1_RNA NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 49 Homeobox. organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TTCACCCGGAGCCAACTGGAG 0.632 NA 22 58 0 0 0 0 PNKP 11284 broad.mit.edu 37 19 50364538 50364538 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:50364538C>A uc002pqh.2 - 16 1585 c.1533G>T c.(1531-1533)CTG>CTT p.L511L PNKP_uc002pqg.2_Silent_p.L292L|PNKP_uc002pqi.2_Silent_p.L472L|PNKP_uc002pqj.2_Silent_p.L511L|PNKP_uc010enm.2_Silent_p.L480L|PNKP_uc002pqk.2_3'UTR NM_007254 NP_009185 Q96T60 PNKP_HUMAN polynucleotide kinase 3' phosphatase 511 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding ovary(1)|kidney(1) 2 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) ACAGCCGCCCCAGCCTCGGCT 0.622 NA Other_BER_factors 45 80 1.85e-21 3.77e-21 1 0 C19orf41 126123 broad.mit.edu 37 19 50657863 50657863 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:50657863A>G uc002prp.1 - 6 704 c.617T>C c.(616-618)GTG>GCG p.V206A NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN hypothetical protein LOC126123 precursor 206 Helical; (Potential). integral to membrane 0 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052) TCACGAGACCACGATGACCAC 0.577 NA 20 36 0 0 0 0 SYT3 84258 broad.mit.edu 37 19 51133373 51133373 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:51133373G>T uc002pst.2 - 3 1364 c.730C>A c.(730-732)CCC>ACC p.P244T SYT3_uc002psv.2_Missense_Mutation_p.P244T|SYT3_uc010ycd.1_Missense_Mutation_p.P244T NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 244 Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) TCACTGCTGGGGTCCGGCTGG 0.642 NA 9 25 2.18e-05 3.43e-05 1 0 GPR32 2854 broad.mit.edu 37 19 51274592 51274592 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:51274592G>T uc010ycf.1 + 1 735 c.735G>T c.(733-735)CGG>CGT p.R245R NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 245 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) AGCTCTTGCGGGAGGGCTGGG 0.602 NA 20 49 4.63e-17 9.15e-17 1 0 CEACAM18 729767 broad.mit.edu 37 19 51984682 51984682 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:51984682A>G uc002pwv.1 + 4 619 c.619A>G c.(619-621)AGC>GGC p.S207G NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 207 integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CGTCAATGCCAGCTCCCTGGT 0.502 NA 13 35 0 0 0 0 PRKCG 5582 broad.mit.edu 37 19 54401341 54401341 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:54401341T>C uc002qcq.1 + 10 1350 c.1068T>C c.(1066-1068)GTT>GTC p.V356V PRKCG_uc010yef.1_Missense_Mutation_p.F327S|PRKCG_uc010yeg.1_Silent_p.V356V|PRKCG_uc010yeh.1_Silent_p.V243V NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 356 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TCCTCATGGTTCTAGGAAAAG 0.502 NA 19 42 0 0 0 0 PRKCG 5582 broad.mit.edu 37 19 54403889 54403889 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:54403889G>A uc002qcq.1 + 14 1743 c.1461G>A c.(1459-1461)ATG>ATA p.M487I PRKCG_uc010yeg.1_Missense_Mutation_p.M487I|PRKCG_uc010yeh.1_Missense_Mutation_p.M374I NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 487 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ACAATGTGATGCTGGATGCTG 0.542 NA 70 129 0 0 0 0 LILRA6 79168 broad.mit.edu 37 19 54742904 54742904 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:54742904G>T uc002qeu.1 - 8 1495 c.1371C>A c.(1369-1371)GTC>GTA p.V457V LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.V301V NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 457 Helical; (Potential). integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGAACACCAGGACCAAGCCTG 0.577 NA 19 55 1.34e-09 2.36e-09 1 0 LILRA4 23547 broad.mit.edu 37 19 54848235 54848235 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:54848235C>A uc002qfj.2 - 6 1189 c.1132G>T c.(1132-1134)GCT>TCT p.A378S LILRA4_uc002qfi.2_Missense_Mutation_p.A312S NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 378 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GGGAATTCAGCCTGGTACTTA 0.587 NA 51 158 1.21e-23 2.52e-23 1 0 LILRB1 10859 broad.mit.edu 37 19 55146717 55146717 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:55146717C>A uc002qgj.2 + 13 1907 c.1567C>A c.(1567-1569)CCA>ACA p.P523T LILRB1_uc010erp.1_Missense_Mutation_p.P138T|LILRB1_uc002qgl.2_Missense_Mutation_p.P523T|LILRB1_uc002qgk.2_Missense_Mutation_p.P524T|LILRB1_uc002qgm.2_Missense_Mutation_p.P524T|LILRB1_uc010erq.2_Missense_Mutation_p.P507T|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 523 Cytoplasmic (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CAGGTCCAGCCCAGCTGCCGA 0.607 NA HNSCC(37;0.09) 15 77 0.000422831 0.00063337 1 0 NCR1 9437 broad.mit.edu 37 19 55417664 55417664 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:55417664T>A uc002qib.2 + 2 80 c.42T>A c.(40-42)TGT>TGA p.C14* NCR1_uc002qic.2_Nonsense_Mutation_p.C14*|NCR1_uc002qie.2_Nonsense_Mutation_p.C14*|NCR1_uc002qid.2_Nonsense_Mutation_p.C14*|NCR1_uc002qif.2_Nonsense_Mutation_p.C14*|NCR1_uc010esj.2_Intron NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 14 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) CAGGGCTGTGTCTGAGTCAGA 0.612 NA 14 56 0 0 0 0 NLRP4 147945 broad.mit.edu 37 19 56370017 56370017 + Silent SNP C C A rs140509890 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:56370017C>A uc002qmd.3 + 3 1680 c.1258C>A c.(1258-1260)CGG>AGG p.R420R NLRP4_uc002qmf.2_Silent_p.R345R|NLRP4_uc010etf.2_Silent_p.R251R NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 420 NACHT. ATP binding p.R420Q(1) ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AGACGACCTCCGGAGAAATGG 0.582 NA 32 104 4.75e-14 9.02e-14 1 0 NLRP4 147945 broad.mit.edu 37 19 56372754 56372754 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:56372754C>A uc002qmd.3 + 4 2281 c.1859C>A c.(1858-1860)TCG>TAG p.S620* NLRP4_uc002qmf.2_Nonsense_Mutation_p.S545*|NLRP4_uc010etf.2_Nonsense_Mutation_p.S451* NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 620 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GACCACAGGTCGGATTACAGC 0.552 NA 16 25 1.57e-10 2.84e-10 1 0 NLRP4 147945 broad.mit.edu 37 19 56382227 56382227 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:56382227G>A uc002qmd.3 + 7 2811 c.2389G>A c.(2389-2391)GAA>AAA p.E797K NLRP4_uc002qmf.2_Missense_Mutation_p.E722K|NLRP4_uc010etf.2_Missense_Mutation_p.E572K NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 797 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCAGTGCTGCGAATACATCTC 0.512 NA 25 51 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57335011 57335011 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:57335011A>T uc002qnu.2 - 2 782 c.431T>A c.(430-432)ATG>AAG p.M144K ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.M18K|ZIM2_uc002qnq.2_Missense_Mutation_p.M18K|ZIM2_uc010etp.2_Missense_Mutation_p.M18K|ZIM2_uc010ygs.1_Missense_Mutation_p.M18K|PEG3_uc002qnt.2_Missense_Mutation_p.M144K|PEG3_uc002qnv.2_Missense_Mutation_p.M144K|PEG3_uc002qnw.2_Missense_Mutation_p.M18K|PEG3_uc002qnx.2_Missense_Mutation_p.M18K|PEG3_uc010etr.2_Missense_Mutation_p.M144K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 144 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GTTCCGGGTCATGTCGTCGTC 0.552 NA 29 62 0 0 0 0 USP29 57663 broad.mit.edu 37 19 57641686 57641686 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:57641686C>T uc002qny.2 + 4 1999 c.1643C>T c.(1642-1644)CCT>CTT p.P548L NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 548 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACCAAACCACCTCTTCCCTTG 0.418 NA 52 143 0 0 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967712 58967712 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:58967712G>T uc002qsv.1 + 4 1508 c.1401G>T c.(1399-1401)GTG>GTT p.V467V ZNF324B_uc002qsu.1_Silent_p.V457V|ZNF324B_uc010euq.1_Silent_p.V467V NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 467 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGGGCGCCGTGCTGCTCAGCC 0.682 NA 23 68 1.23e-08 2.12e-08 1 0 TPO 7173 broad.mit.edu 37 2 1480964 1480964 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:1480964C>A uc002qww.2 + 8 1017 c.926C>A c.(925-927)TCC>TAC p.S309Y TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.S309Y|TPO_uc002qwr.2_Missense_Mutation_p.S309Y|TPO_uc002qwx.2_Missense_Mutation_p.S309Y|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.S309Y NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 309 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) GGGAACCTGTCCACGGCCAAC 0.706 NA 9 25 7.48e-07 1.24e-06 1 0 PXDN 7837 broad.mit.edu 37 2 1658260 1658260 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:1658260C>A uc002qxa.2 - 15 1922 c.1858G>T c.(1858-1860)GGA>TGA p.G620* PXDN_uc002qxb.1_Nonsense_Mutation_p.G620* NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 620 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AACGGATCTCCATTTCGACTG 0.428 NA 15 32 7.93e-07 1.31e-06 1 0 PXDN 7837 broad.mit.edu 37 2 1680770 1680770 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:1680770C>T uc002qxa.2 - 8 841 c.777G>A c.(775-777)TCG>TCA p.S259S PXDN_uc002qxb.1_Silent_p.S259S|PXDN_uc002qxc.1_Silent_p.S76S NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 259 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CGGTGTTCCCCGAGGTCACAT 0.532 NA 6 14 0 0 0 0 MYT1L 23040 broad.mit.edu 37 2 1890319 1890319 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:1890319T>A uc002qxe.2 - 18 3530 c.2703A>T c.(2701-2703)CAA>CAT p.Q901H MYT1L_uc002qxd.2_Missense_Mutation_p.Q899H|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 901 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ACTTGAGTTCTTGGGAGCTGG 0.433 NA 18 42 0 0 0 0 MYT1L 23040 broad.mit.edu 37 2 1914014 1914014 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:1914014G>A uc002qxe.2 - 13 2642 c.1815C>T c.(1813-1815)CTC>CTT p.L605L MYT1L_uc002qxd.2_Silent_p.L603L|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 605 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTGGGTACCTGAGCACGCGGT 0.637 NA 5 37 0 0 0 0 ADAM17 6868 broad.mit.edu 37 2 9666299 9666299 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:9666299C>G uc002qzu.2 - 6 877 c.694G>C c.(694-696)GAT>CAT p.D232H ADAM17_uc010ewy.2_Missense_Mutation_p.D232H|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exa.2_5'Flank|ADAM17_uc010exb.1_3'UTR NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 232 Peptidase M12B.|Extracellular (Potential). B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) AAGCGATGATCTGCTACCACC 0.358 NA 35 92 0 0 0 0 GREB1 9687 broad.mit.edu 37 2 11702672 11702672 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:11702672C>G uc002rbk.1 + 3 541 c.241C>G c.(241-243)CTG>GTG p.L81V GREB1_uc002rbl.2_Missense_Mutation_p.L81V|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Missense_Mutation_p.L81V NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 81 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CCCTTTCCAGCTGCACCCTCT 0.612 NA 29 87 0 0 0 0 NBAS 51594 broad.mit.edu 37 2 15470842 15470842 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:15470842C>A uc002rcc.1 - 36 4253 c.4227G>T c.(4225-4227)TGG>TGT p.W1409C NBAS_uc010exl.1_Missense_Mutation_p.W481C|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1409 ovary(2)|liver(1)|skin(1) 4 TAGCAGTGGTCCAGCGCAATA 0.468 NA 19 57 2.46e-09 4.32e-09 1 0 APOB 338 broad.mit.edu 37 2 21230042 21230042 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:21230042T>C uc002red.2 - 26 9826 c.9698A>G c.(9697-9699)TAC>TGC p.Y3233C NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3233 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) TTCAGCTTTGTACTTATCAAA 0.363 NA 19 27 0 0 0 0 APOB 338 broad.mit.edu 37 2 21235485 21235485 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:21235485T>A uc002red.2 - 26 4383 c.4255A>T c.(4255-4257)ACA>TCA p.T1419S NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1419 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.T1419A(1) 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) TATGATAGTGTGAACGTATTC 0.343 NA 9 45 0 0 0 0 C2orf53 339779 broad.mit.edu 37 2 27360306 27360306 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:27360306A>T uc002rjb.2 - 3 1472 c.892T>A c.(892-894)TTC>ATC p.F298I PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank NM_178553 NP_848648 Q53SZ7 CB053_HUMAN hypothetical protein LOC339779 298 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGGAGGCCGAAGCCGATGCCT 0.657 NA 15 36 0 0 0 0 TRMT61B 55006 broad.mit.edu 37 2 29092590 29092590 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:29092590C>A uc002rmm.2 - 1 586 c.554G>T c.(553-555)GGG>GTG p.G185V TRMT61B_uc002rmn.2_Missense_Mutation_p.G185V|TRMT61B_uc010ezk.2_RNA NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B 185 tRNA (adenine-N1-)-methyltransferase activity 0 CGGGACTGCCCCCCAGTTACT 0.498 NA 33 91 2.68e-12 4.94e-12 1 0 WDR43 23160 broad.mit.edu 37 2 29158393 29158393 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:29158393C>T uc002rmo.2 + 12 1476 c.1444C>T c.(1444-1446)CTT>TTT p.L482F NM_015131 NP_055946 Q15061 WDR43_HUMAN WD repeat domain 43 482 nucleolus ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) ACAGAAAGTACTTCAAACTAG 0.318 NA 10 39 0 0 0 0 CAPN13 92291 broad.mit.edu 37 2 30959385 30959385 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:30959385C>G uc002rnn.2 - 17 1882 c.1706G>C c.(1705-1707)CGC>CCC p.R569P CAPN13_uc002rnm.2_RNA NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 569 EF-hand 1. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GTGAACAAGGCGCTTCCACAG 0.408 NA 23 46 0 0 0 0 NLRC4 58484 broad.mit.edu 37 2 32474682 32474682 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:32474682G>A uc002roi.2 - 4 2497 c.2251C>T c.(2251-2253)CTG>TTG p.L751L NLRC4_uc002roj.1_Silent_p.L751L|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 751 LRR 5. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ATACCCGGCAGCCGTTGATTC 0.318 NA 69 184 0 0 0 0 NLRC4 58484 broad.mit.edu 37 2 32475967 32475967 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:32475967C>T uc002roi.2 - 4 1212 c.966G>A c.(964-966)TTG>TTA p.L322L NLRC4_uc002roj.1_Silent_p.L322L|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 322 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GAATTTGGAGCAACAAGCCTT 0.507 NA 18 51 0 0 0 0 LTBP1 4052 broad.mit.edu 37 2 33540329 33540329 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:33540329G>A uc002ros.2 + 24 3726 c.3726G>A c.(3724-3726)ACG>ACA p.T1242T LTBP1_uc002rot.2_Silent_p.T916T|LTBP1_uc002rou.2_Silent_p.T915T|LTBP1_uc002rov.2_Silent_p.T862T|LTBP1_uc010ymz.1_Silent_p.T915T|LTBP1_uc010yna.1_Silent_p.T862T|LTBP1_uc010ynb.1_Silent_p.T181T NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1241 EGF-like 12; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ATGGCCGTACGTGTGAAGGTA 0.448 NA 13 31 0 0 0 0 RASGRP3 25780 broad.mit.edu 37 2 33741637 33741637 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:33741637T>C uc002rox.2 + 5 726 c.99T>C c.(97-99)TAT>TAC p.Y33Y RASGRP3_uc010ync.1_Silent_p.Y33Y|RASGRP3_uc002roy.2_Silent_p.Y33Y NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 33 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) ATAATAGTTATTTGCCAAGAA 0.328 NA 2 9 0 0 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656936 40656936 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:40656936G>T uc002rrx.2 - 1 509 c.485C>A c.(484-486)ACT>AAT p.T162N SLC8A1_uc002rry.2_Missense_Mutation_p.T162N|SLC8A1_uc002rrz.2_Missense_Mutation_p.T162N|SLC8A1_uc002rsa.2_Missense_Mutation_p.T162N|SLC8A1_uc002rsd.3_Missense_Mutation_p.T162N|SLC8A1_uc002rsb.1_Missense_Mutation_p.T162N|SLC8A1_uc010fan.1_Missense_Mutation_p.T162N|SLC8A1_uc002rsc.1_Missense_Mutation_p.T162N NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 162 Extracellular (Potential).|Alpha-1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GTCTCCTGCAGTGAAGTTATG 0.468 NA 20 57 1.56e-12 2.89e-12 1 0 NRXN1 9378 broad.mit.edu 37 2 50779852 50779852 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:50779852C>T uc010fbq.2 - 9 3229 c.1752G>A c.(1750-1752)GAG>GAA p.E584E NRXN1_uc002rxb.3_Silent_p.E216E|NRXN1_uc002rxe.3_Silent_p.E544E|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CATCTAGCATCTCAATAGCAA 0.448 NA 30 73 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 50779857 50779857 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:50779857T>C uc010fbq.2 - 9 3224 c.1747A>G c.(1747-1749)ATT>GTT p.I583V NRXN1_uc002rxb.3_Missense_Mutation_p.I215V|NRXN1_uc002rxe.3_Missense_Mutation_p.I543V|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) AGCATCTCAATAGCAAAGAAG 0.443 NA 27 79 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 51254661 51254661 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:51254661G>T uc010fbq.2 - 2 2228 c.751C>A c.(751-753)CGC>AGC p.R251S NRXN1_uc002rxe.3_Missense_Mutation_p.R251S|NRXN1_uc002rxd.1_Missense_Mutation_p.R251S NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment 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) TCCTTGCCGCGGAAGCCGGTT 0.751 NA 5 30 0.000602214 0.000897232 1 0 NRXN1 9378 broad.mit.edu 37 2 51254722 51254722 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:51254722G>T uc010fbq.2 - 2 2167 c.690C>A c.(688-690)AAC>AAA p.N230K NRXN1_uc002rxe.3_Missense_Mutation_p.N230K|NRXN1_uc002rxd.1_Missense_Mutation_p.N230K NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment 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) ACACACCTCCGTTGAGGCACA 0.711 NA 11 15 4.69e-08 7.99e-08 1 0 CCDC104 112942 broad.mit.edu 37 2 55756024 55756024 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:55756024A>T uc002ryy.2 + 4 491 c.293A>T c.(292-294)CAA>CTA p.Q98L CCDC104_uc002ryx.2_Missense_Mutation_p.Q123L NM_080667 NP_542398 Q96G28 CC104_HUMAN coiled-coil domain containing 104 98 ovary(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCCATTTTGCAACCTGTGTTG 0.363 NA 5 34 0 0 0 0 MEIS1 4211 broad.mit.edu 37 2 66664968 66664968 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:66664968C>T uc002sdu.2 + 2 569 c.112C>T c.(112-114)CAC>TAC p.H38Y MEIS1_uc002sdt.2_Missense_Mutation_p.H38Y|MEIS1_uc002sdv.2_Missense_Mutation_p.H36Y|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_5'Flank|MEIS1_uc002sdw.1_5'Flank NM_002398 NP_002389 O00470 MEIS1_HUMAN Meis homeobox 1 38 sequence-specific DNA binding transcription factor activity 0 GCCGGTCCACCACCTGAACCA 0.612 NA 7 25 0 0 0 0 DYSF 8291 broad.mit.edu 37 2 71797809 71797809 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:71797809C>T uc002sie.2 + 29 3488 c.3112C>T c.(3112-3114)CGA>TGA p.R1038* DYSF_uc010feg.2_Nonsense_Mutation_p.R1069*|DYSF_uc010feh.2_Nonsense_Mutation_p.R1024*|DYSF_uc002sig.3_Nonsense_Mutation_p.R1024*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.R1038*|DYSF_uc010fef.2_Nonsense_Mutation_p.R1055*|DYSF_uc010fei.2_Nonsense_Mutation_p.R1055*|DYSF_uc010fek.2_Nonsense_Mutation_p.R1056*|DYSF_uc010fej.2_Nonsense_Mutation_p.R1025*|DYSF_uc010fel.2_Nonsense_Mutation_p.R1025*|DYSF_uc010feo.2_Nonsense_Mutation_p.R1070*|DYSF_uc010fem.2_Nonsense_Mutation_p.R1039*|DYSF_uc010fen.2_Nonsense_Mutation_p.R1056*|DYSF_uc002sif.2_Nonsense_Mutation_p.R1039* NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1038 Cytoplasmic (Potential).|Arg-rich. R -> Q (in LGMD2B; uncertain pathogenicity). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CTACACACACCGACGGCGGCG 0.642 NA 14 32 0 0 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315415 73315415 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:73315415G>A uc002siu.3 - 3 1572 c.1331C>T c.(1330-1332)TCT>TTT p.S444F RAB11FIP5_uc002sit.3_Missense_Mutation_p.S366F NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 444 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 CACAGCCTCAGAGGAGGCCAC 0.657 NA 39 88 0 0 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315801 73315801 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:73315801C>G uc002siu.3 - 3 1186 c.945G>C c.(943-945)GTG>GTC p.V315V RAB11FIP5_uc002sit.3_Silent_p.V237V NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 315 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 GAGGAGGAGCCACTCGCATCT 0.592 NA 6 23 0 0 0 0 CCDC142 84865 broad.mit.edu 37 2 74709692 74709692 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:74709692G>A uc002slr.2 - 1 666 c.273C>T c.(271-273)CTC>CTT p.L91L TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Silent_p.L91L|CCDC142_uc002slp.2_Silent_p.L91L NM_032779 NP_116168 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 91 Potential. central_nervous_system(1) 1 ACACCGCCCGGAGACGCTGCA 0.716 NA 7 8 0 0 0 0 AUP1 550 broad.mit.edu 37 2 74754875 74754875 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:74754875G>A uc010yrx.1 - 7 1126 c.1000C>T c.(1000-1002)CGC>TGC p.R334C DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.R10C|AUP1_uc002smf.2_Missense_Mutation_p.R277C|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.R186C|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank Q9Y679 AUP1_HUMAN SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA; 343 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nucleus protein binding 0 GACTGGGGGCGCAATCTGGGG 0.512 NA 50 129 0 0 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746849 77746849 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:77746849G>T uc002snr.2 - 3 561 c.146C>A c.(145-147)TCT>TAT p.S49Y LRRTM4_uc002snq.2_Missense_Mutation_p.S49Y|LRRTM4_uc002sns.2_Missense_Mutation_p.S49Y|LRRTM4_uc002snt.2_Missense_Mutation_p.S50Y NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 49 Extracellular (Potential).|LRRNT. integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GAAAGCATGAGACTCACAGTA 0.463 NA 27 72 1.18e-12 2.18e-12 1 0 CTNNA2 1496 broad.mit.edu 37 2 80136847 80136847 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:80136847G>T uc010ysh.1 + 6 985 c.980G>T c.(979-981)CGG>CTG p.R327L CTNNA2_uc010yse.1_Missense_Mutation_p.R327L|CTNNA2_uc010ysf.1_Missense_Mutation_p.R327L|CTNNA2_uc010ysg.1_Missense_Mutation_p.R327L NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 327 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CGAGACGACCGGCGCGAGAGG 0.637 NA 33 74 5.83e-16 1.14e-15 1 0 CTNNA2 1496 broad.mit.edu 37 2 80816527 80816527 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:80816527C>G uc010ysh.1 + 14 2111 c.2106C>G c.(2104-2106)GCC>GCG p.A702A CTNNA2_uc010yse.1_Silent_p.A702A|CTNNA2_uc010ysf.1_Silent_p.A702A|CTNNA2_uc010ysg.1_Silent_p.A702A|CTNNA2_uc010ysi.1_Silent_p.A334A|CTNNA2_uc010ysj.1_Silent_p.A31A NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 702 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CAGAAGTGGCCAAATGGGACG 0.498 NA 35 57 0 0 0 0 PTCD3 55037 broad.mit.edu 37 2 86350830 86350830 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:86350830G>T uc002sqw.2 + 9 727 c.661G>T c.(661-663)GAA>TAA p.E221* PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'Flank NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 precursor 221 mitochondrion protein binding ovary(1) 1 TCAGGAAGAGGAAAATGATGA 0.383 NA 14 36 3.27e-08 5.61e-08 1 0 ADRA2B 151 broad.mit.edu 37 2 96780851 96780851 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:96780851C>A uc002svi.2 - 3 1047 c.1047G>T c.(1045-1047)GTG>GTT p.V349V NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 349 Cytoplasmic (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CTATAGCACCCACGCCCCTGC 0.677 NA 7 16 0.00198382 0.0028924 1 0 NCAPH 23397 broad.mit.edu 37 2 97008569 97008569 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:97008569G>C uc002svz.1 + 4 523 c.439G>C c.(439-441)GAA>CAA p.E147Q NCAPH_uc010fhu.1_Missense_Mutation_p.E123Q|NCAPH_uc010fhv.1_Missense_Mutation_p.E136Q|NCAPH_uc010yum.1_Missense_Mutation_p.E123Q|NCAPH_uc010fhw.1_Missense_Mutation_p.E136Q|NCAPH_uc010yun.1_Missense_Mutation_p.E11Q|NCAPH_uc002swa.1_Intron NM_015341 NP_056156 Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 147 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus urinary_tract(1)|skin(1) 2 Ovarian(717;0.0221) GAAAGACACCGAACCAACCAA 0.353 NA 14 37 0 0 0 0 FER1L5 90342 broad.mit.edu 37 2 97370351 97370351 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:97370351C>A uc010fia.2 + 52 6204 c.6204C>A c.(6202-6204)GAC>GAA p.D2068E FER1L5_uc002sws.3_Missense_Mutation_p.D777E|FER1L5_uc002swt.3_Missense_Mutation_p.D777E|FER1L5_uc010yus.1_Missense_Mutation_p.D776E NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 2068 integral to membrane ovary(1) 1 CTACAATAGACCATGAGTGGA 0.463 NA 31 83 1.75e-11 3.19e-11 1 0 INPP4A 3631 broad.mit.edu 37 2 99179952 99179952 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:99179952C>T uc002syy.2 + 19 2288 c.1895C>T c.(1894-1896)CCG>CTG p.P632L INPP4A_uc010yvj.1_Missense_Mutation_p.P593L|INPP4A_uc010yvk.1_Missense_Mutation_p.P593L|INPP4A_uc002syx.2_Missense_Mutation_p.P627L|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 632 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 GCCCTTTACCCGCTGCTGACC 0.532 NA 9 29 0 0 0 0 CREG2 200407 broad.mit.edu 37 2 102000150 102000150 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:102000150T>C uc002tba.2 - 2 502 c.456A>G c.(454-456)CCA>CCG p.P152P NM_153836 NP_722578 Q8IUH2 CREG2_HUMAN cellular repressor of E1A-stimulated genes 2 152 extracellular region FMN binding ovary(1) 1 AGTTCCCAAATGGCAGTCCTT 0.512 NA 34 77 0 0 0 0 MFSD9 84804 broad.mit.edu 37 2 103353142 103353142 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:103353142C>G uc002tcb.2 - 1 196 c.128G>C c.(127-129)CGC>CCC p.R43P TMEM182_uc002tcc.3_5'Flank|TMEM182_uc002tcd.3_5'Flank|MFSD9_uc010fja.2_RNA NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 43 transmembrane transport integral to membrane|plasma membrane transporter activity ovary(2)|breast(2) 4 CAGGAAGCGGCGGGCTCCGAC 0.672 NA 14 42 0 0 0 0 UXS1 80146 broad.mit.edu 37 2 106739524 106739524 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:106739524C>T uc002tdm.2 - 9 744 c.646G>A c.(646-648)GAG>AAG p.E216K UXS1_uc002tdl.2_Missense_Mutation_p.E48K|UXS1_uc002tdn.2_Missense_Mutation_p.E221K|UXS1_uc002tdo.2_Missense_Mutation_p.E159K|UXS1_uc010ywh.1_Missense_Mutation_p.E60K NM_025076 NP_079352 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 216 Lumenal (Potential). cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity ovary(2) 2 CAGTAATCCTCACTTTGAGGG 0.453 NA 25 62 0 0 0 0 SULT1C3 442038 broad.mit.edu 37 2 108863754 108863754 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:108863754G>T uc010ywo.1 + 1 104 c.104G>T c.(103-105)TGG>TTG p.W35L NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 35 cytoplasm alcohol sulfotransferase activity skin(1) 1 TCAAAAGAATGGTGGGAAAAA 0.378 NA 18 53 3.99e-14 7.59e-14 1 0 FBLN7 129804 broad.mit.edu 37 2 112944822 112944822 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:112944822G>T uc002tho.1 + 8 1330 c.1059G>T c.(1057-1059)ACG>ACT p.T353T FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Silent_p.T307T|FBLN7_uc010fkj.1_Silent_p.T219T NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN fibulin 7 isoform 1 353 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding ovary(1)|central_nervous_system(1) 2 CGCCCATCACGCTCTTCCGCA 0.647 NA 38 103 4.14e-20 8.4e-20 1 0 SLC35F5 80255 broad.mit.edu 37 2 114503857 114503857 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:114503857A>T uc002tku.1 - 5 901 c.477T>A c.(475-477)TCT>TCA p.S159S SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Silent_p.S153S|SLC35F5_uc002tkw.2_Silent_p.S159S NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 159 transport integral to membrane 0 CACTTACCAAAGAACTATTCA 0.378 NA 16 39 0 0 0 0 STEAP3 55240 broad.mit.edu 37 2 120003239 120003239 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:120003239T>A uc002tlp.2 + 3 324 c.167T>A c.(166-168)GTG>GAG p.V56E STEAP3_uc002tlq.2_Missense_Mutation_p.V66E|STEAP3_uc002tlr.2_Missense_Mutation_p.V56E|STEAP3_uc010fle.2_Missense_Mutation_p.V56E NM_018234 NP_060704 Q658P3 STEA3_HUMAN dudulin 2 isoform b 56 Cytoplasmic (Potential). apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding central_nervous_system(2)|skin(1) 3 AAAGTGGTGGTGGGGAGCCGC 0.637 NA 11 31 0 0 0 0 GLI2 2736 broad.mit.edu 37 2 121747847 121747847 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:121747847A>G uc010flp.2 + 13 4387 c.4357A>G c.(4357-4359)ATG>GTG p.M1453V GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.M1125V|GLI2_uc002tmu.3_Missense_Mutation_p.M1108V NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1453 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CCAGATCCACATGTACGAACA 0.657 NA 24 64 0 0 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125175132 125175132 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:125175132T>C uc002tno.2 + 4 858 c.494T>C c.(493-495)ATT>ACT p.I165T CNTNAP5_uc010flu.2_Missense_Mutation_p.I165T NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 165 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AGTGGGAAGATTGGCATGAGA 0.498 NA 3 16 0 0 0 0 FAM123C 205147 broad.mit.edu 37 2 131520349 131520349 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:131520349G>A uc002trw.2 + 2 894 c.704G>A c.(703-705)TGT>TAT p.C235Y FAM123C_uc010fmv.2_Missense_Mutation_p.C235Y|FAM123C_uc010fms.1_Missense_Mutation_p.C235Y|FAM123C_uc010fmt.1_Missense_Mutation_p.C235Y|FAM123C_uc010fmu.1_Missense_Mutation_p.C235Y NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 235 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) AGGGCCCTGTGTGAGGACGTG 0.662 NA 26 130 0 0 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540264 133540264 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:133540264G>C uc002ttp.2 - 14 4494 c.4120C>G c.(4120-4122)CCA>GCA p.P1374A NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1374 protein binding 0 TCAGACTTTGGAGGGATCCTC 0.622 NA 15 30 0 0 0 0 ORC4L 5000 broad.mit.edu 37 2 148696734 148696734 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:148696734C>A uc002twi.2 - 11 1068 c.933G>T c.(931-933)ATG>ATT p.M311I ORC4L_uc002twj.2_Missense_Mutation_p.M311I|ORC4L_uc010zbo.1_Missense_Mutation_p.M237I|ORC4L_uc010zbp.1_Missense_Mutation_p.M94I|ORC4L_uc010fnr.2_Missense_Mutation_p.M311I|ORC4L_uc010zbq.1_Missense_Mutation_p.M227I|ORC4L_uc002twk.2_Missense_Mutation_p.M311I|ORC4L_uc010zbr.1_Missense_Mutation_p.M311I|ORC4L_uc002twl.1_5'Flank NM_181741 NP_859525 O43929 ORC4_HUMAN origin recognition complex subunit 4 311 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203) CTTTCGAGTCCATGCTACACA 0.358 NA 14 31 2.32e-09 4.08e-09 1 0 FAP 2191 broad.mit.edu 37 2 163027550 163027550 + Missense_Mutation SNP G G T rs138652824 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:163027550G>T uc002ucd.2 - 26 2430 c.2222C>A c.(2221-2223)ACG>AAG p.T741K FAP_uc010fpc.2_Missense_Mutation_p.T290K|FAP_uc010zct.1_Missense_Mutation_p.T716K|FAP_uc010fpd.2_Missense_Mutation_p.T220K NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 741 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.T741K(1) ovary(3) 3 TAAGTGGTTCGTGGACAGGCC 0.433 NA 28 38 7.38e-10 1.31e-09 1 0 SCN3A 6328 broad.mit.edu 37 2 166019263 166019263 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:166019263C>A uc002ucx.2 - 8 1262 c.770G>T c.(769-771)TGT>TTT p.C257F SCN3A_uc002ucy.2_Missense_Mutation_p.C257F|SCN3A_uc002ucz.2_Missense_Mutation_p.C257F|SCN3A_uc002uda.1_Missense_Mutation_p.C126F|SCN3A_uc002udb.1_Missense_Mutation_p.C126F NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 257 Helical; Name=S5 of repeat I; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CACGCTCAGACAGAACACAGT 0.478 NA 37 36 1.91e-15 3.71e-15 1 0 XIRP2 129446 broad.mit.edu 37 2 168105477 168105477 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:168105477A>T uc002udx.2 + 8 7593 c.7575A>T c.(7573-7575)CCA>CCT p.P2525P XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.P2350P|XIRP2_uc010fpq.2_Silent_p.P2303P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2350 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATTCATTTCCAGAGAGTTCAG 0.348 NA 32 51 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170096254 170096254 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:170096254A>T uc002ues.2 - 26 4290 c.4077T>A c.(4075-4077)GGT>GGA p.G1359G NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1359 Extracellular (Potential).|EGF-like 5. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CGTGAGTACAACCACCATTGA 0.383 NA 17 27 0 0 0 0 SSB 6741 broad.mit.edu 37 2 170667535 170667535 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:170667535A>G uc002ufk.2 + 10 1085 c.978A>G c.(976-978)CTA>CTG p.L326L SSB_uc002ufl.2_Silent_p.L326L|SSB_uc002ufm.2_Silent_p.L326L NM_003142 NP_003133 P05455 LA_HUMAN autoantigen La 326 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding skin(3)|pancreas(1) 4 AAGAATCCCTAAACAAATGGA 0.333 NA 14 27 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179392225 179392225 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:179392225A>G uc010zfg.1 - 311 100148 c.99924T>C c.(99922-99924)AAT>AAC p.N33308N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N27003N|TTN_uc010zfi.1_Silent_p.N26936N|TTN_uc010zfj.1_Silent_p.N26811N|TTN_uc002umq.2_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 34235 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) GTTGTGTCATATTAGATATTC 0.403 NA 38 56 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179457788 179457788 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:179457788A>T uc010zfg.1 - 249 51578 c.51354T>A c.(51352-51354)AAT>AAA p.N17118K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N10813K|TTN_uc010zfi.1_Missense_Mutation_p.N10746K|TTN_uc010zfj.1_Missense_Mutation_p.N10621K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18045 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) TTGCTTCAGGATTAACAGGTG 0.358 NA 45 52 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179482516 179482516 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:179482516A>T uc010zfg.1 - 202 40082 c.39858T>A c.(39856-39858)GCT>GCA p.A13286A TTN_uc010zfh.1_Silent_p.A6981A|TTN_uc010zfi.1_Silent_p.A6914A|TTN_uc010zfj.1_Silent_p.A6789A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14213 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) CAATTGGATCAGCAACTTTGA 0.388 NA 17 35 0 0 0 0 COL3A1 1281 broad.mit.edu 37 2 189854843 189854843 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:189854843C>A uc002uqj.1 + 9 829 c.712C>A c.(712-714)CGA>AGA p.R238R COL3A1_uc010frw.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 238 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TAGACCCGGACGACCTGGAGA 0.383 NA 13 23 0.00244969 0.00356876 1 0 PLCL1 5334 broad.mit.edu 37 2 198950550 198950550 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:198950550A>T uc010fsp.2 + 2 2600 c.2309A>T c.(2308-2310)CAG>CTG p.Q770L PLCL1_uc002uuv.3_Missense_Mutation_p.Q691L NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 770 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) AAAACTGTACAGCAAAACAGT 0.408 NA 20 37 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202137359 202137359 + Splice_Site SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:202137359A>G uc002uxr.1 + 5 621 c.412_splice c.e5-2 p.N138_splice CASP8_uc010ftc.1_Splice_Site_p.N138_splice|CASP8_uc002uxo.1_Splice_Site_p.N138_splice|CASP8_uc002uxp.1_Splice_Site_p.N170_splice|CASP8_uc002uxq.1_Splice_Site_p.N138_splice|CASP8_uc002uxs.1_Splice_Site_p.N138_splice|CASP8_uc002uxt.1_Splice_Site_p.N197_splice|CASP8_uc002uxu.1_Splice_Site|CASP8_uc010ftd.1_Splice_Site_p.N35_splice|CASP8_uc002uxv.1_Splice_Site_p.N138_splice|CASP8_uc002uxw.1_Splice_Site_p.N138_splice|CASP8_uc002uxy.1_Splice_Site_p.N138_splice|CASP8_uc002uxx.1_Splice_Site_p.N138_splice|CASP8_uc010ftf.2_Splice_Site_p.N138_splice|CASP8_uc010fte.1_Splice_Site_p.N35_splice NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 TCCTCCTCTTAGAACCTGCTG 0.408 NA HNSCC(4;0.00038) 27 52 0 0 0 0 ZDBF2 57683 broad.mit.edu 37 2 207176110 207176110 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:207176110G>T uc002vbp.2 + 5 7108 c.6858G>T c.(6856-6858)ATG>ATT p.M2286I NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2286 nucleic acid binding|zinc ion binding ovary(3) 3 CAAGCGCTATGGCAAATCCTC 0.507 NA 8 4 0.000274275 0.000411185 1 0 IDH1 3417 broad.mit.edu 37 2 209116227 209116227 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:209116227C>T uc002vcs.2 - 3 295 c.49G>A c.(49-51)GAA>AAA p.E17K IDH1_uc002vct.2_Missense_Mutation_p.E17K|IDH1_uc002vcu.2_Missense_Mutation_p.E17K NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 17 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) CGTGTCATTTCATCTCCTTGC 0.358 NA Mis gliobastoma 27 31 0 0 0 0 PTH2R 5746 broad.mit.edu 37 2 209308084 209308084 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:209308084G>A uc002vdb.2 + 6 734 c.521G>A c.(520-522)TGC>TAC p.C174Y PTH2R_uc010zjb.1_Missense_Mutation_p.C185Y NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 174 Cytoplasmic (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) CGATTGCATTGCACTAGGAAC 0.418 NA 17 20 0 0 0 0 ACADL 33 broad.mit.edu 37 2 211085399 211085399 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:211085399G>T uc002vdz.3 - 2 433 c.205C>A c.(205-207)CAA>AAA p.Q69K ACADL_uc010zjg.1_Missense_Mutation_p.Q69K NM_001608 NP_001599 P28330 ACADL_HUMAN long-chain acyl-CoA dehydrogenase precursor 69 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity 0 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) ACTTCTTCTTGGAAAAACTTC 0.358 NA 18 23 1.01e-13 1.91e-13 1 0 ABCA12 26154 broad.mit.edu 37 2 215976318 215976318 + Splice_Site SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:215976318A>T uc002vew.2 - 2 383 c.163_splice c.e2+1 p.C55_splice ABCA12_uc010zjn.1_Splice_Site NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCATTTACTTACAAGTTGGTT 0.294 NA 19 22 0 0 0 0 ANKZF1 55139 broad.mit.edu 37 2 220095004 220095004 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:220095004C>T uc002vkg.2 + 2 199 c.25C>T c.(25-27)CCG>TCG p.P9S ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Missense_Mutation_p.P9S|ANKZF1_uc010zkw.1_Intron|ANKZF1_uc002vkh.2_Intron|ANKZF1_uc002vki.2_Missense_Mutation_p.P9S|ANKZF1_uc002vkj.1_5'Flank NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 9 intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGATGCAGCCCCGGCTCCTGC 0.612 NA 11 22 0 0 0 0 DOCK10 55619 broad.mit.edu 37 2 225639746 225639746 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:225639746G>T uc010fwz.1 - 52 6128 c.5889C>A c.(5887-5889)GAC>GAA p.D1963E DOCK10_uc002vob.2_Missense_Mutation_p.D1957E|DOCK10_uc002voa.2_Missense_Mutation_p.D619E NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1963 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTGTCTTCCGGTCTTCGATTT 0.507 NA 7 14 8.13e-05 0.000124651 1 0 SPHKAP 80309 broad.mit.edu 37 2 228881633 228881633 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:228881633A>C uc002vpq.2 - 7 3984 c.3937T>G c.(3937-3939)TCC>GCC p.S1313A SPHKAP_uc002vpp.2_Missense_Mutation_p.S1313A|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1313A NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1313 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCCTCAATGGAGCTAGCCCAC 0.507 NA 17 27 0 0 0 0 CHGB 1114 broad.mit.edu 37 20 5903868 5903868 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:5903868G>A uc002wmg.2 + 4 1384 c.1078G>A c.(1078-1080)GAG>AAG p.E360K CHGB_uc010zqz.1_Missense_Mutation_p.E43K NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 360 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 CCTGGAGTGGGAGCGCTATAG 0.527 NA 33 94 0 0 0 0 HAO1 54363 broad.mit.edu 37 20 7915261 7915261 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:7915261C>G uc002wmw.1 - 2 183 c.159G>C c.(157-159)ATG>ATC p.M53I HAO1_uc010gbu.2_Missense_Mutation_p.M53I NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 53 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 CATTCCGGAGCATCCTTGGAT 0.403 NA 24 54 0 0 0 0 FLRT3 23767 broad.mit.edu 37 20 14306911 14306911 + Silent SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:14306911A>C uc002wov.1 - 3 1709 c.1242T>G c.(1240-1242)ACT>ACG p.T414T MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.T414T NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 414 Extracellular (Potential).|Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) CAGACTTCACAGTAATTGTAA 0.468 NA 46 117 0 0 0 0 PCSK2 5126 broad.mit.edu 37 20 17446125 17446125 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:17446125G>A uc002wpm.2 + 11 1677 c.1357G>A c.(1357-1359)GTG>ATG p.V453M PCSK2_uc002wpl.2_Missense_Mutation_p.V434M|PCSK2_uc010zrm.1_Missense_Mutation_p.V418M|PCSK2_uc002wpn.2_Missense_Mutation_p.V107M NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 453 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGTGCCATGGTGAAAATGGC 0.567 NA 10 20 0 0 0 0 DTD1 92675 broad.mit.edu 37 20 18724787 18724787 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:18724787G>T uc002wrf.3 + 5 682 c.521G>T c.(520-522)AGA>ATA p.R174I NM_080820 NP_543010 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 174 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds ovary(2) 2 GAAAAGACCAGAGCTAAGGGA 0.443 NA 12 17 3.07e-06 4.97e-06 1 0 FOXA2 3170 broad.mit.edu 37 20 22563227 22563227 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:22563227G>A uc002wsn.2 - 3 825 c.635C>T c.(634-636)TCC>TTC p.S212F FOXA2_uc002wsm.2_Missense_Mutation_p.S218F NM_153675 NP_710141 Q9Y261 FOXA2_HUMAN forkhead box A2 isoform 2 212 Fork-head. cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|kidney(1)|central_nervous_system(1) 4 Lung NSC(19;0.188) GTCGTTGAAGGAGAGCGAGTG 0.607 NA 15 37 0 0 0 0 SSTR4 6754 broad.mit.edu 37 20 23017238 23017238 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:23017238C>A uc002wsr.2 + 1 1182 c.1118C>A c.(1117-1119)CCA>CAA p.P373Q NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 373 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCCCTGCAACCAGAACCCGGC 0.667 NA 24 59 1.04e-07 1.76e-07 1 0 THBD 7056 broad.mit.edu 37 20 23029284 23029284 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:23029284C>A uc002wss.2 - 1 1018 c.858G>T c.(856-858)CAG>CAT p.Q286H THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.Q227H NM_000361 NP_000352 P07204 TRBM_HUMAN thrombomodulin precursor 286 EGF-like 2.|Extracellular (Potential). blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity 0 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) CGTTGCAGGACTGCGTCGCGG 0.716 NA 10 15 0.000442599 0.000662431 1 0 CD93 22918 broad.mit.edu 37 20 23064994 23064994 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:23064994C>G uc002wsv.2 - 1 1984 c.1836G>C c.(1834-1836)AAG>AAC p.K612N NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 612 Cytoplasmic (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCTCCTCCCTCTTCGCTCTCC 0.567 NA 52 149 0 0 0 0 CST8 10047 broad.mit.edu 37 20 23476506 23476506 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:23476506G>C uc002wth.1 + 4 741 c.384G>C c.(382-384)TGG>TGC p.W128C NM_005492 NP_005483 O60676 CST8_HUMAN cystatin 8 precursor 128 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) CACTTCCCTGGAATGGTGAAT 0.348 NA 26 48 0 0 0 0 CST5 1473 broad.mit.edu 37 20 23860133 23860133 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:23860133T>A uc002wtr.1 - 1 248 c.181A>T c.(181-183)AAG>TAG p.K61* NM_001900 NP_001891 P28325 CYTD_HUMAN cystatin D precursor 61 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding 0 TACTCATCCTTATTAATGACC 0.557 NA 70 224 0 0 0 0 ACSS1 84532 broad.mit.edu 37 20 24995843 24995843 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:24995843C>A uc002wub.2 - 8 2148 c.1270G>T c.(1270-1272)GCC>TCC p.A424S ACSS1_uc002wuc.2_Missense_Mutation_p.A424S|ACSS1_uc010gdc.2_Missense_Mutation_p.A219S|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A341S NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 424 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CACTCCCAGGCCTCACAGTTG 0.522 NA 20 39 7.42e-09 1.28e-08 1 0 BPIL1 80341 broad.mit.edu 37 20 31601615 31601615 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:31601615G>T uc002wyj.2 + 5 503 c.309_splice c.e5-1 p.R103_splice NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 CATCCCTACAGCGCCCCAGAG 0.637 NA 18 58 3.33e-07 5.55e-07 1 0 BPIL1 80341 broad.mit.edu 37 20 31601640 31601640 + Silent SNP G G C rs148455522 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:31601640G>C uc002wyj.2 + 5 527 c.333G>C c.(331-333)ACG>ACC p.T111T NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 111 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 TGGAGCTGACGCTGCCTGTGG 0.617 NA 10 54 0 0 0 0 GSS 2937 broad.mit.edu 37 20 33519801 33519801 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:33519801G>T uc002xbg.2 - 10 1050 c.970C>A c.(970-972)CAG>AAG p.Q324K GSS_uc010zun.1_Missense_Mutation_p.Q196K|GSS_uc010zuo.1_Missense_Mutation_p.Q213K|GSS_uc010zup.1_Missense_Mutation_p.Q255K|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Missense_Mutation_p.Q54K NM_000178 NP_000169 P48637 GSHB_HUMAN glutathione synthetase 324 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) GCCTCAGGCTGGCCAGGGAGC 0.632 NA 51 72 1.36e-18 2.74e-18 1 0 LBP 3929 broad.mit.edu 37 20 36993246 36993246 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:36993246G>A uc002xic.1 + 8 796 c.761G>A c.(760-762)CGT>CAT p.R254H NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 254 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) ATCTTTCATCGTAACCACCGT 0.488 NA 38 61 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 41306563 41306563 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:41306563C>A uc002xkg.2 - 7 1280 c.1096G>T c.(1096-1098)GGT>TGT p.G366C PTPRT_uc010ggj.2_Missense_Mutation_p.G366C NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 366 Extracellular (Potential).|Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.G366V(1) skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCCCCTCACCTGGTCGTGTG 0.562 NA 32 38 2.85e-18 5.71e-18 1 0 MYBL2 4605 broad.mit.edu 37 20 42328423 42328423 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:42328423C>T uc002xlb.1 + 7 905 c.690C>T c.(688-690)TCC>TCT p.S230S MYBL2_uc010zwj.1_Silent_p.S206S|MYBL2_uc002xla.1_Silent_p.S230S NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 230 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACTGGCCCTCCGTCCCTCCTA 0.443 NA 16 28 0 0 0 0 C20orf85 128602 broad.mit.edu 37 20 56735866 56735866 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:56735866G>T uc002xyv.2 + 4 440 c.402G>T c.(400-402)CAG>CAT p.Q134H NM_178456 NP_848551 Q9H1P6 CT085_HUMAN hypothetical protein LOC128602 134 ovary(1) 1 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) GGCCCAAGCAGGGCGTGCACT 0.597 NA 11 14 3.07e-06 4.97e-06 1 0 NPEPL1 79716 broad.mit.edu 37 20 57268861 57268861 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:57268861C>T uc010zzs.1 + 2 314 c.219C>T c.(217-219)TAC>TAT p.Y73Y NPEPL1_uc010zzr.1_Silent_p.Y25Y|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Silent_p.Y45Y|NPEPL1_uc002xzp.2_Translation_Start_Site NM_024663 NP_078939 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 73 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity 0 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) ACCTGAACTACGCCACCGTGG 0.672 NA 29 34 0 0 0 0 PHACTR3 116154 broad.mit.edu 37 20 58330273 58330273 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:58330273C>T uc002yau.2 + 4 862 c.395C>T c.(394-396)CCC>CTC p.P132L PHACTR3_uc002yat.2_Missense_Mutation_p.P129L|PHACTR3_uc010zzw.1_Missense_Mutation_p.P91L|PHACTR3_uc002yav.2_Missense_Mutation_p.P91L|PHACTR3_uc002yaw.2_Missense_Mutation_p.P91L|PHACTR3_uc002yax.2_Missense_Mutation_p.P91L NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 132 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GATGGAGGACCCCGATCTGTA 0.587 NA 9 17 0 0 0 0 DIDO1 11083 broad.mit.edu 37 20 61525097 61525097 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:61525097C>A uc002ydr.1 - 12 3286 c.3022G>T c.(3022-3024)GTG>TTG p.V1008L DIDO1_uc002yds.1_Missense_Mutation_p.V1008L|DIDO1_uc002ydt.1_Missense_Mutation_p.V1008L|DIDO1_uc002ydu.1_Missense_Mutation_p.V1008L NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1008 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GACTTGGGCACCATCACAGAA 0.557 NA 39 53 2.05e-20 4.17e-20 1 0 MYT1 4661 broad.mit.edu 37 20 62830234 62830234 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:62830234A>T uc002yii.2 + 3 384 c.20A>T c.(19-21)GAC>GTC p.D7V MYT1_uc002yih.2_Missense_Mutation_p.D7V NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 7 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GAAAATGAAGACAAGCGAGCT 0.557 NA 11 29 0 0 0 0 HSPA13 6782 broad.mit.edu 37 21 15746151 15746151 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:15746151C>A uc002yjt.2 - 5 1272 c.1203G>T c.(1201-1203)GAG>GAT p.E401D HSPA13_uc011abx.1_Missense_Mutation_p.E193D NM_006948 NP_008879 P48723 HSP13_HUMAN heat shock protein 70kDa family member 13 401 endoplasmic reticulum|microsome ATP binding kidney(1) 1 CTAAAACCACCTCATCAATCT 0.438 NA 55 85 2.31e-15 4.5e-15 1 0 SAMSN1 64092 broad.mit.edu 37 21 15872886 15872886 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:15872886C>A uc002yju.1 - 6 814 c.732G>T c.(730-732)AAG>AAT p.K244N SAMSN1_uc010gky.1_Missense_Mutation_p.K76N|SAMSN1_uc002yjv.1_Missense_Mutation_p.K312N NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 244 SAM. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) CCTGCAGAGTCTTGGATTTTT 0.433 NA 10 57 2.81e-09 4.9e-09 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28338577 28338577 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:28338577C>T uc002ymg.2 - 1 863 c.134G>A c.(133-135)CGG>CAG p.R45Q NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 45 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CCCCTGCCGCCGGCGGGGCTG 0.766 NA 7 13 0 0 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31797760 31797760 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:31797760C>T uc002yob.1 - 1 471 c.471G>A c.(469-471)TGG>TGA p.W157* NM_181622 NP_853653 Q3SY46 KR133_HUMAN keratin associated protein 13-3 157 intermediate filament ovary(1)|lung(1) 2 ATGAATGGAACCACCTTCTAG 0.388 NA 19 28 0 0 0 0 SFRS15 57466 broad.mit.edu 37 21 33064243 33064243 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:33064243T>C uc002ypd.2 - 14 2041 c.1615A>G c.(1615-1617)ATG>GTG p.M539V SFRS15_uc002ype.2_Missense_Mutation_p.M539V|SFRS15_uc010glu.2_Missense_Mutation_p.M524V|SFRS15_uc002ypf.1_Missense_Mutation_p.M213V NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 539 RRM. nucleus nucleotide binding|RNA binding 0 GGAGGAATCATCTGCTCCAAA 0.408 NA 17 52 0 0 0 0 AIRE 326 broad.mit.edu 37 21 45708269 45708269 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:45708269A>T uc002zei.2 + 5 707 c.580A>T c.(580-582)ATG>TTG p.M194L AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank NM_000383 NP_000374 O43918 AIRE_HUMAN autoimmune regulator isoform 1 194 SAND. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding skin(1) 1 Colorectal(79;0.0806) AGCTGTGGCCATGTCCTCCGG 0.622 NA Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy 37 71 0 0 0 0 COL6A1 1291 broad.mit.edu 37 21 47421935 47421935 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:47421935C>T uc002zhu.1 + 31 2119 c.2017C>T c.(2017-2019)CAC>TAC p.H673Y COL6A1_uc010gqd.1_Missense_Mutation_p.H4Y|COL6A1_uc002zhv.1_Missense_Mutation_p.H4Y|COL6A1_uc002zhw.1_5'Flank NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor 673 VWFA 2.|C-terminal globular domain. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GATGCAGGAGCACGTGAGCCT 0.697 NA 14 38 0 0 0 0 PCNT 5116 broad.mit.edu 37 21 47851899 47851899 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:47851899G>T uc002zji.3 + 38 8628 c.8521G>T c.(8521-8523)GCC>TCC p.A2841S PCNT_uc002zjj.2_Intron NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2841 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GGAGGTAAGTGCCACACTGAA 0.567 NA 17 39 1.78e-19 3.61e-19 1 0 POTEH 23784 broad.mit.edu 37 22 16279270 16279270 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:16279270T>C uc010gqp.2 - 4 1005 c.953A>G c.(952-954)CAT>CGT p.H318R POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.H37R|POTEH_uc002zlj.1_Missense_Mutation_p.H153R NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 318 ANK 5. skin(1) 1 TTTTTGCTCATGTACACCAAG 0.328 NA 28 418 0 0 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072618 17072618 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:17072618C>G uc002zlp.1 - 1 1083 c.823G>C c.(823-825)GAT>CAT p.D275H NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 275 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) AGTAATTGATCGCTTCCTTTA 0.527 NA 49 141 0 0 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073049 17073049 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:17073049T>A uc002zlp.1 - 1 652 c.392A>T c.(391-393)CAG>CTG p.Q131L NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 131 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) CTCCCGGAGCTGCGGGCGAGG 0.652 NA 15 41 0 0 0 0 TOP3B 8940 broad.mit.edu 37 22 22322027 22322027 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:22322027C>G uc002zvs.2 - 8 1235 c.800G>C c.(799-801)CGG>CCG p.R267P TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_5'UTR|TOP3B_uc010gtl.2_Missense_Mutation_p.R267P|TOP3B_uc002zvt.3_Missense_Mutation_p.R267P NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 267 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) TGCGATCTCCCGGTCAAACAC 0.483 NA 33 65 0 0 0 0 CABIN1 23523 broad.mit.edu 37 22 24480531 24480531 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:24480531G>T uc002zzi.1 + 21 3038 c.2911_splice c.e21-1 p.V971_splice CABIN1_uc002zzj.1_Splice_Site_p.V921_splice|CABIN1_uc002zzl.1_Splice_Site_p.V971_splice NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 TTTTTTTCAAGGTGGATCTTA 0.408 NA 31 96 2.08e-15 4.05e-15 1 0 CHEK2 11200 broad.mit.edu 37 22 29083962 29083962 + Missense_Mutation SNP G G C rs138839489 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:29083962G>C uc003adu.1 - 15 1627 c.1555C>G c.(1555-1557)CGA>GGA p.R519G CHEK2_uc003ads.1_Missense_Mutation_p.R298G|CHEK2_uc010gvh.1_Missense_Mutation_p.R428G|CHEK2_uc010gvi.1_Missense_Mutation_p.R368G|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.R562G|CHEK2_uc003adv.1_Missense_Mutation_p.R490G|CHEK2_uc003adw.1_Missense_Mutation_p.R519G|CHEK2_uc003adx.1_Missense_Mutation_p.R298G|CHEK2_uc003ady.1_Missense_Mutation_p.R508G|CHEK2_uc003adz.1_Missense_Mutation_p.R323G NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 519 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 GGCCGCTTTCGACTAGTAGAA 0.463 NA F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 3 31 0 0 0 0 EWSR1 2130 broad.mit.edu 37 22 29684679 29684679 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:29684679G>C uc003aet.2 + 8 1206 c.878G>C c.(877-879)AGC>ACC p.S293T EWSR1_uc003aes.3_Missense_Mutation_p.S293T|EWSR1_uc003aev.2_Missense_Mutation_p.S299T|EWSR1_uc003aew.2_Missense_Mutation_p.S237T|EWSR1_uc003aex.2_Missense_Mutation_p.S293T|EWSR1_uc003aey.2_Missense_Mutation_p.S88T|EWSR1_uc003aez.2_5'Flank NM_005243 NP_005234 Q01844 EWS_HUMAN Ewing sarcoma breakpoint region 1 isoform 2 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2) bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1) 3254 GAGAACCGGAGCATGAGTGGC 0.592 NA T FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1 Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma 18 25 0 0 0 0 SFI1 9814 broad.mit.edu 37 22 31946321 31946321 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:31946321A>T uc003ale.2 + 6 924 c.531A>T c.(529-531)AGA>AGT p.R177S SFI1_uc003ald.1_Missense_Mutation_p.R153S|SFI1_uc003alf.2_Missense_Mutation_p.R177S|SFI1_uc003alg.2_Missense_Mutation_p.R95S|SFI1_uc011alp.1_Missense_Mutation_p.R95S|SFI1_uc011alq.1_Missense_Mutation_p.R153S|SFI1_uc003alh.2_Intron NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 177 HAT 2. G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 AGTACATTAGAGCCGAGGTTC 0.448 NA 18 32 0 0 0 0 C22orf42 150297 broad.mit.edu 37 22 32555017 32555017 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:32555017C>G uc003amd.2 - 1 227 c.186G>C c.(184-186)CAG>CAC p.Q62H NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 62 ovary(1)|skin(1) 2 GGCTGAGGTACTGCATGAGTT 0.537 NA 61 174 0 0 0 0 SSTR3 6753 broad.mit.edu 37 22 37603377 37603377 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:37603377T>A uc003ara.2 - 2 528 c.466A>T c.(466-468)ACA>TCA p.T156S SSTR3_uc003arb.2_Missense_Mutation_p.T156S NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 156 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 ACCGGAGCTGTGCGCCAGCGG 0.677 NA 30 53 0 0 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39380220 39380220 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:39380220G>T uc003awo.1 + 2 212 c.158G>T c.(157-159)GGG>GTG p.G53V APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.G53V|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron NM_004900 NP_004891 Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 53 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding ovary(1) 1 Melanoma(58;0.04) TGGGACACAGGGGTCTTTCGA 0.368 NA 23 7 7.88e-14 1.49e-13 1 0 CACNA1I 8911 broad.mit.edu 37 22 40042659 40042659 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:40042659T>C uc003ayc.2 + 8 1235 c.1235T>C c.(1234-1236)ATG>ACG p.M412T CACNA1I_uc003ayd.2_Missense_Mutation_p.M412T|CACNA1I_uc003aye.2_Missense_Mutation_p.M327T|CACNA1I_uc003ayf.2_Missense_Mutation_p.M327T NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 412 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CACCGGCTGATGCTGGAGCAG 0.607 NA 5 7 0 0 0 0 FAM83F 113828 broad.mit.edu 37 22 40417675 40417675 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:40417675C>T uc003ayk.1 + 4 1255 c.1161C>T c.(1159-1161)CCC>CCT p.P387P NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN hypothetical protein LOC113828 387 breast(1) 1 TGCTGCCCCCCGTGGAGCCCA 0.662 NA 13 48 0 0 0 0 ACO2 50 broad.mit.edu 37 22 41918884 41918884 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:41918884G>T uc003bac.2 + 10 1211 c.1189G>T c.(1189-1191)GCA>TCA p.A397S ACO2_uc003bad.2_Missense_Mutation_p.A422S NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 397 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 GGGGCGCTCAGCAGCTGTGGC 0.572 NA 22 49 5.26e-13 9.82e-13 1 0 PRR5 55615 broad.mit.edu 37 22 45132772 45132772 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:45132772C>A uc003bfb.1 + 8 1084 c.812C>A c.(811-813)GCG>GAG p.A271E PRR5_uc003bew.1_Missense_Mutation_p.A262E|PRR5_uc003bex.1_Missense_Mutation_p.A176E|PRR5_uc010gzt.1_Missense_Mutation_p.A294E|PRR5_uc010gzu.1_Missense_Mutation_p.A235E|PRR5_uc003bey.1_Missense_Mutation_p.A262E|PRR5_uc003bez.1_Missense_Mutation_p.A176E|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.A164E|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.A170E NM_181333 NP_851850 P85299 PRR5_HUMAN proline rich 5 (renal) isoform 1 271 cell cycle skin(1) 1 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) GCGGAGGGCGCGGCGGCCGGC 0.711 NA 13 39 1.58e-08 2.73e-08 1 0 GTSE1 51512 broad.mit.edu 37 22 46704670 46704670 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:46704670C>A uc011aqy.1 + 4 804 c.592C>A c.(592-594)CGC>AGC p.R198S GTSE1_uc011aqz.1_Missense_Mutation_p.R45S NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 179 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) TGCCCAGGCCCGCCTCACCCG 0.677 NA 45 87 6.48e-29 1.36e-28 1 0 CRELD2 79174 broad.mit.edu 37 22 50315316 50315316 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:50315316C>A uc003bja.2 + 5 634 c.499C>A c.(499-501)CGG>AGG p.R167R CRELD2_uc003biz.3_Silent_p.R167R|CRELD2_uc010haj.2_Silent_p.R167R|CRELD2_uc010hal.2_Silent_p.R167R|CRELD2_uc010hak.2_Silent_p.R167R|CRELD2_uc010ham.2_Silent_p.R167R NM_024324 NP_077300 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 isoform b 167 EGF-like 1. endoplasmic reticulum|extracellular region calcium ion binding 0 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) CGGGTCCTGCCGGTGCCACAT 0.647 NA 29 102 1.75e-13 3.3e-13 1 0 FGD5 152273 broad.mit.edu 37 3 14939485 14939485 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:14939485G>A uc003bzc.2 + 6 3059 c.2949G>A c.(2947-2949)CGG>CGA p.R983R FGD5_uc011avk.1_Silent_p.R983R|FGD5_uc003bzd.2_Silent_p.R61R NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 983 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 TCCTGGCCCGGGAGCAGGGGT 0.577 NA 24 38 0 0 0 0 RFTN1 23180 broad.mit.edu 37 3 16475401 16475401 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:16475401G>T uc003cay.2 - 3 571 c.289C>A c.(289-291)CTG>ATG p.L97M RFTN1_uc010hes.2_Missense_Mutation_p.L61M NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 97 plasma membrane ovary(3)|central_nervous_system(1) 4 ATGTGCTCCAGGGGCGTCTTC 0.597 NA 50 103 2.56e-31 5.38e-31 1 0 ZNF385D 79750 broad.mit.edu 37 3 21465512 21465512 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:21465512G>T uc003cce.2 - 7 1305 c.897C>A c.(895-897)CCC>CCA p.P299P NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 299 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 TAGGTTTCGGGGGCTTCCCAG 0.418 NA 34 40 2.55e-27 5.31e-27 1 0 ZNF385D 79750 broad.mit.edu 37 3 21606087 21606087 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:21606087G>T uc003cce.2 - 3 663 c.255C>A c.(253-255)TGC>TGA p.C85* ZNF385D_uc010hfb.1_RNA NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 85 Matrin-type 1. nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 ATCTCAACTGGCAAATGTTGC 0.343 NA 15 28 3.27e-08 5.61e-08 1 0 TGFBR2 7048 broad.mit.edu 37 3 30691784 30691784 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:30691784A>G uc003ceo.2 + 3 668 c.286A>G c.(286-288)ACA>GCA p.T96A TGFBR2_uc003cen.2_Missense_Mutation_p.T121A NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 96 Extracellular (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 CGAGAACATAACACTAGAGAC 0.428 NA 27 34 0 0 0 0 TRANK1 9881 broad.mit.edu 37 3 36899135 36899135 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:36899135G>T uc003cgj.2 - 3 598 c.296C>A c.(295-297)ACT>AAT p.T99N NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 649 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TGTTCTGGCAGTGGCACCACA 0.597 NA 35 34 1.27e-14 2.43e-14 1 0 SCN10A 6336 broad.mit.edu 37 3 38763808 38763808 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:38763808C>A uc003ciq.2 - 19 3448 c.3448G>T c.(3448-3450)GAG>TAG p.E1150* NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1150 III.|Helical; Name=S1 of repeat III; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CAGCTGTGCTCCACGATACGG 0.547 NA 20 33 0.000132079 0.000201779 1 0 SCN11A 11280 broad.mit.edu 37 3 38946691 38946691 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:38946691G>T uc011ays.1 - 11 1794 c.1595C>A c.(1594-1596)ACC>AAC p.T532N NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 532 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACCCTTCATGGTGATGGTGAG 0.488 NA 57 58 6.18e-18 1.23e-17 1 0 CCR8 1237 broad.mit.edu 37 3 39374449 39374449 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:39374449C>T uc010hhr.2 + 2 765 c.627C>T c.(625-627)ATC>ATT p.I209I CCR8_uc003cjm.2_Silent_p.I126I NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 209 Helical; Name=5; (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) GCTTGTTGATCCCATTCACCA 0.398 NA 25 34 0 0 0 0 CCK 885 broad.mit.edu 37 3 42304950 42304950 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:42304950A>T uc003clc.1 - 2 382 c.173T>A c.(172-174)CTG>CAG p.L58Q CCK_uc003cld.1_Missense_Mutation_p.L58Q|CCK_uc011azk.1_Missense_Mutation_p.L58Q NM_000729 NP_000720 P06307 CCKN_HUMAN cholecystokinin preproprotein 58 axonogenesis|eating behavior|neuron migration neuropeptide hormone activity central_nervous_system(1) 1 Ovarian(412;0.0728) KIRC - Kidney renal clear cell carcinoma(284;0.219) CAGGGCGCCCAGGTGCGCTCG 0.672 NA 32 58 0 0 0 0 C3orf23 285343 broad.mit.edu 37 3 44441904 44441904 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:44441904G>T uc010him.2 + 9 1188 c.943G>T c.(943-945)GAC>TAC p.D315Y C3orf23_uc003cnd.3_Missense_Mutation_p.D315Y|C3orf23_uc003cne.3_Missense_Mutation_p.D171Y NM_173826 NP_776187 Q8N3R3 CC023_HUMAN hypothetical protein LOC285343 isoform 1 315 mitochondrion upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) GATTTTAGAAGACCAAATAAG 0.318 NA 11 25 1.59e-06 2.59e-06 1 0 CSPG5 10675 broad.mit.edu 37 3 47618790 47618790 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:47618790C>T uc003crp.3 - 2 902 c.726G>A c.(724-726)GAG>GAA p.E242E CSPG5_uc003crn.2_Silent_p.E104E|CSPG5_uc003cro.3_Silent_p.E242E|CSPG5_uc011bbb.1_Silent_p.E104E NM_006574 NP_006565 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan 242 Extracellular (Potential). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGGTCTCTCCCTCAGTATCAG 0.517 NA 9 12 0 0 0 0 USP4 7375 broad.mit.edu 37 3 49377429 49377429 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:49377429C>G uc003cwq.2 - 1 108 c.29G>C c.(28-30)CGA>CCA p.R10P USP4_uc003cwr.2_Missense_Mutation_p.R10P NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 10 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CGCATCCGGTCGCTCACGGCA 0.697 NA 6 24 0 0 0 0 CACNA1D 776 broad.mit.edu 37 3 53781378 53781378 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:53781378C>A uc003dgv.3 + 26 3380 c.3217C>A c.(3217-3219)CGT>AGT p.R1073S CACNA1D_uc003dgu.3_Missense_Mutation_p.R1093S|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1073S|CACNA1D_uc003dgw.3_Missense_Mutation_p.R740S|CACNA1D_uc003dgx.1_Missense_Mutation_p.R221S NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1073 Extracellular (Potential).|III. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TCCTGTGGTCCGTGAACGGAT 0.527 NA 43 42 4.16e-14 7.91e-14 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64608244 64608244 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:64608244C>T uc003dmg.2 - 17 2440 c.2408G>A c.(2407-2409)GGT>GAT p.G803D ADAMTS9_uc011bfo.1_Missense_Mutation_p.G775D|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G632D|ADAMTS9_uc003dmk.1_Missense_Mutation_p.G803D NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 803 Spacer. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CAAGAATTCACCTTTACTGCT 0.388 NA 17 20 0 0 0 0 GPR27 2850 broad.mit.edu 37 3 71804129 71804129 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:71804129T>A uc011bge.1 + 1 929 c.929T>A c.(928-930)GTG>GAG p.V310E EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank NM_018971 NP_061844 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 310 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) CGGGTCCTGGTGCGGCCCGGC 0.667 NA 10 15 0 0 0 0 GXYLT2 727936 broad.mit.edu 37 3 73004273 73004273 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:73004273C>A uc003dpg.2 + 4 625 c.625C>A c.(625-627)CTT>ATT p.L209I NM_001080393 NP_001073862 A0PJZ3 GXLT2_HUMAN glycosyltransferase 8 domain containing 4 209 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 TGTGGACTCACTTCTCTACGT 0.468 NA 13 15 5.51e-06 8.83e-06 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433878 73433878 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:73433878C>A uc003dpl.1 - 10 1935 c.1839G>T c.(1837-1839)TTG>TTT p.L613F PDZRN3_uc011bgh.1_Missense_Mutation_p.L270F|PDZRN3_uc010hoe.1_Missense_Mutation_p.L311F|PDZRN3_uc011bgf.1_Missense_Mutation_p.L330F|PDZRN3_uc011bgg.1_Missense_Mutation_p.L333F NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 613 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGCCGCTGCCCAAGGTGTCCT 0.647 NA 25 36 3.01e-09 5.26e-09 1 0 POU1F1 5449 broad.mit.edu 37 3 87313582 87313582 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:87313582C>A uc003dqq.1 - 3 420 c.295G>T c.(295-297)GCA>TCA p.A99S POU1F1_uc010hoj.1_Missense_Mutation_p.A125S NM_000306 NP_000297 P28069 PIT1_HUMAN pituitary specific transcription factor 1 99 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|skin(1) 2 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) GGGTCCTCTGCCAGAAGAGGC 0.438 NA 39 36 6.24e-21 1.27e-20 1 0 EPHA3 2042 broad.mit.edu 37 3 89391052 89391052 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:89391052G>T uc003dqy.2 + 5 1343 c.1118G>T c.(1117-1119)TGT>TTT p.C373F EPHA3_uc003dqx.1_Missense_Mutation_p.C373F|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 373 Extracellular (Potential).|Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATAAAACAGTGTGAGCCATGC 0.493 NA TSP Lung(6;0.00050) 14 28 1.36e-06 2.23e-06 1 0 EPHA6 285220 broad.mit.edu 37 3 97454962 97454962 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:97454962T>C uc010how.1 + 16 3171 c.3128T>C c.(3127-3129)GTA>GCA p.V1043A EPHA6_uc003drt.2_Missense_Mutation_p.V435A|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 948 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GACATCCTTGTGTAAGAGGCA 0.383 NA 44 35 0 0 0 0 OR5H14 403273 broad.mit.edu 37 3 97868383 97868383 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:97868383G>A uc003dsg.1 + 1 154 c.154G>A c.(154-156)GAC>AAC p.D52N NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CATCTGGAAAGACCCTCATCT 0.413 NA 89 425 0 0 0 0 COL8A1 1295 broad.mit.edu 37 3 99513943 99513943 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:99513943C>A uc003dtg.1 + 5 1443 c.1198C>A c.(1198-1200)CCT>ACT p.P400T COL8A1_uc003dth.1_Missense_Mutation_p.P400T|COL8A1_uc003dti.1_Missense_Mutation_p.P401T NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 400 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 AATCCCAGGTCCTATGGGCCC 0.612 NA 8 62 0.00307968 0.00445776 1 0 MYH15 22989 broad.mit.edu 37 3 108211406 108211406 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:108211406G>A uc003dxa.1 - 10 929 c.872C>T c.(871-873)GCT>GTT p.A291V NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 291 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CCTCTCTCCAGCCTGCTGGAA 0.368 NA 14 44 0 0 0 0 TRAT1 50852 broad.mit.edu 37 3 108549617 108549617 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:108549617G>T uc003dxi.1 + 2 252 c.108G>T c.(106-108)AAG>AAT p.K36N TRAT1_uc010hpx.1_Intron NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 36 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 ATGTGGAAAAGCAACGACAAG 0.418 NA 36 178 6.03e-25 1.26e-24 1 0 TRAT1 50852 broad.mit.edu 37 3 108568018 108568018 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:108568018A>G uc003dxi.1 + 5 364 c.220A>G c.(220-222)ATG>GTG p.M74V TRAT1_uc010hpx.1_Missense_Mutation_p.M37V NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 74 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 CCAAGAACCAATGGATGAAAA 0.338 NA 15 71 0 0 0 0 ADPRH 141 broad.mit.edu 37 3 119301305 119301305 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:119301305C>A uc003ecs.2 + 3 587 c.289C>A c.(289-291)CGG>AGG p.R97R ADPRH_uc010hqv.2_Silent_p.R97R|ADPRH_uc011bjb.1_Intron|ADPRH_uc003ect.2_Silent_p.R97R NM_001125 NP_001116 P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 97 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding ovary(1) 1 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) CATGGATGGGCGGGCACCAGG 0.473 NA 14 84 9.77e-05 0.000149631 1 0 GTF2E1 2960 broad.mit.edu 37 3 120469827 120469827 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:120469827A>T uc003edz.3 + 2 542 c.428A>T c.(427-429)CAG>CTG p.Q143L GTF2E1_uc003edy.2_Missense_Mutation_p.Q143L NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 143 C4-type (Potential). interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) GAAGCTAATCAGCTCTTTGAT 0.353 NA 18 64 0 0 0 0 STXBP5L 9515 broad.mit.edu 37 3 121001149 121001149 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:121001149C>A uc003eec.3 + 20 2287 c.2147C>A c.(2146-2148)CCT>CAT p.P716H STXBP5L_uc011bji.1_Intron NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 716 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) AACTTTTATCCTGATTTAACG 0.383 NA 15 54 1.36e-06 2.23e-06 1 0 CD86 942 broad.mit.edu 37 3 121838297 121838297 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:121838297T>C uc003eet.2 + 7 1022 c.906T>C c.(904-906)CAT>CAC p.H302H CD86_uc011bjo.1_Silent_p.H220H|CD86_uc011bjp.1_Silent_p.H190H|CD86_uc003eeu.2_Silent_p.H296H NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 302 Cytoplasmic (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) AAAAAATCCATATACCTGAAA 0.338 NA 17 57 0 0 0 0 SEMA5B 54437 broad.mit.edu 37 3 122642512 122642512 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:122642512G>T uc003efz.1 - 10 1528 c.1224C>A c.(1222-1224)AAC>AAA p.N408K SEMA5B_uc011bju.1_Missense_Mutation_p.N350K|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.N408K|SEMA5B_uc010hro.1_Missense_Mutation_p.N350K|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 408 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CAGCCCTGGGGTTCTCCTGGT 0.557 NA 31 135 1.89e-17 3.75e-17 1 0 MYLK 4638 broad.mit.edu 37 3 123427705 123427705 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:123427705C>A uc003ego.2 - 15 2262 c.1980G>T c.(1978-1980)GGG>GGT p.G660G MYLK_uc011bjw.1_Silent_p.G660G|MYLK_uc003egp.2_Silent_p.G591G|MYLK_uc003egq.2_Silent_p.G660G|MYLK_uc003egr.2_Silent_p.G591G|MYLK_uc003egs.2_Silent_p.G484G NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 660 Ig-like C2-type 5. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGATCTCATTCCCATTGTGCA 0.562 NA 22 127 9.96e-16 1.94e-15 1 0 CCDC14 64770 broad.mit.edu 37 3 123633847 123633847 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:123633847G>T uc011bjx.1 - 13 2732 c.2641C>A c.(2641-2643)CAT>AAT p.H881N CCDC14_uc003egv.3_Missense_Mutation_p.H522N|CCDC14_uc003egx.3_Missense_Mutation_p.H681N|CCDC14_uc010hrt.2_Missense_Mutation_p.H840N|CCDC14_uc003egy.3_Missense_Mutation_p.H681N|CCDC14_uc003egz.2_3'UTR NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 881 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) GATGGGCCATGACATGCAGTT 0.458 NA 18 89 3.41e-10 6.11e-10 1 0 KALRN 8997 broad.mit.edu 37 3 124377324 124377324 + Missense_Mutation SNP G G T rs144160219 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:124377324G>T uc003ehg.2 + 42 6207 c.6080G>T c.(6079-6081)CGC>CTC p.R2027L KALRN_uc003ehi.2_Missense_Mutation_p.R368L|KALRN_uc003ehk.2_Missense_Mutation_p.R330L|KALRN_uc011bjz.1_Missense_Mutation_p.R119L NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2026 DH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AATAAGCCGCGCTCAGAGTAC 0.507 NA 24 99 1.18e-12 2.18e-12 1 0 ALDH1L1 10840 broad.mit.edu 37 3 125879696 125879696 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:125879696C>A uc003eim.1 - 2 317 c.127G>T c.(127-129)GGT>TGT p.G43C ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.G43C|ALDH1L1_uc010hsf.1_Missense_Mutation_p.W7C|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_5'UTR NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 43 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GCTCACTCACCCAGGGGGTCG 0.602 NA 28 162 9.39e-14 1.78e-13 1 0 UROC1 131669 broad.mit.edu 37 3 126218903 126218903 + Missense_Mutation SNP C C A rs142723755 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:126218903C>A uc003eiz.1 - 12 1272 c.1240G>T c.(1240-1242)GCA>TCA p.A414S UROC1_uc010hsi.1_Missense_Mutation_p.A474S NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 414 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) ctcctACCTGCTCTCTGGGCC 0.532 NA 15 64 2.23e-06 3.63e-06 1 0 TXNRD3IT1 645840 broad.mit.edu 37 3 126291216 126291216 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:126291216C>A uc003ejc.2 - 3 650 c.171G>T c.(169-171)GGG>GGT p.G57G NM_001039783 NP_001034872 Q6F5E7 TR3N_HUMAN thioredoxin reductase 3 intronic transcript 1 57 0 GACTGGGAAACCCCTGTCCAA 0.393 NA 22 90 0.00278032 0.00404879 1 0 EEFSEC 60678 broad.mit.edu 37 3 128060074 128060074 + Splice_Site SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:128060074A>T uc003eki.2 + 5 825 c.787_splice c.e5-2 p.V263_splice EEFSEC_uc003ekj.2_Splice_Site_p.V208_splice NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 ACTCCCCATCAGGTGGTGAAG 0.562 NA 26 100 0 0 0 0 RAB7A 7879 broad.mit.edu 37 3 128516832 128516832 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:128516832A>C uc003eks.1 + 3 332 c.100A>C c.(100-102)AGC>CGC p.S34R RAB7A_uc010hsv.1_Missense_Mutation_p.S34R|RAB7A_uc003ekt.2_Missense_Mutation_p.S10R NM_004637 NP_004628 P51149 RAB7A_HUMAN RAB7, member RAS oncogene family 34 endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle GDP binding|GTP binding|GTPase activity|protein binding 0 GBM - Glioblastoma multiforme(114;0.231) TAAGAAATTCAGCAATCAGTA 0.433 NA 30 109 0 0 0 0 GP9 2815 broad.mit.edu 37 3 128780893 128780893 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:128780893C>G uc003elm.2 + 3 498 c.311C>G c.(310-312)ACG>AGG p.T104R NM_000174 NP_000165 P14770 GPIX_HUMAN glycoprotein IX (platelet) precursor 104 LRRCT.|Extracellular (Potential). blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding 0 Quinine(DB00468) GAGGACCGCACGCCCGAGGCC 0.692 NA 15 64 0 0 0 0 PIK3R4 30849 broad.mit.edu 37 3 130442379 130442379 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:130442379C>G uc003enj.2 - 7 2441 c.1860G>C c.(1858-1860)CTG>CTC p.L620L NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 620 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 GACCTTGTTGCAGCAGAGGCT 0.408 NA 29 36 0 0 0 0 ATP2C1 27032 broad.mit.edu 37 3 130683850 130683850 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:130683850T>A uc003enl.2 + 14 1305 c.1083T>A c.(1081-1083)ACT>ACA p.T361T ATP2C1_uc011blg.1_Silent_p.T395T|ATP2C1_uc011blh.1_Silent_p.T356T|ATP2C1_uc011bli.1_Silent_p.T395T|ATP2C1_uc003enk.2_Silent_p.T345T|ATP2C1_uc003enm.2_Silent_p.T361T|ATP2C1_uc003enn.2_Silent_p.T345T|ATP2C1_uc003eno.2_Silent_p.T361T|ATP2C1_uc003enp.2_Silent_p.T361T|ATP2C1_uc003enq.2_Silent_p.T361T|ATP2C1_uc003enr.2_Silent_p.T361T|ATP2C1_uc003ens.2_Silent_p.T361T|ATP2C1_uc003ent.2_Silent_p.T361T|ATP2C1_uc003enu.2_Silent_p.T39T NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 361 Cytoplasmic (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) ATGAAATGACTGTTACTCACA 0.333 NA Hailey-Hailey_disease 55 43 0 0 0 0 CPNE4 131034 broad.mit.edu 37 3 131624228 131624228 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:131624228G>T uc003eok.2 - 2 495 c.60C>A c.(58-60)AGC>AGA p.S20R CPNE4_uc011blq.1_Missense_Mutation_p.S38R|CPNE4_uc003eol.2_Missense_Mutation_p.S38R|CPNE4_uc003eom.2_Missense_Mutation_p.S20R NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 20 upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCAGGCAGGGGCTGTTAAAGA 0.458 NA 18 57 1.68e-08 2.89e-08 1 0 SLCO2A1 6578 broad.mit.edu 37 3 133672524 133672524 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:133672524T>A uc003eqa.3 - 5 981 c.707A>T c.(706-708)TAT>TTT p.Y236F SLCO2A1_uc003eqb.3_Missense_Mutation_p.Y160F|SLCO2A1_uc011blv.1_Intron|SLCO2A1_uc010htw.1_Missense_Mutation_p.Y68F NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 236 Helical; Name=5; (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 GACCCTGCCATAGTCCACAAA 0.522 NA 64 58 0 0 0 0 ESYT3 83850 broad.mit.edu 37 3 138174129 138174129 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:138174129C>A uc003esk.2 + 3 689 c.463C>A c.(463-465)CTG>ATG p.L155M ESYT3_uc010hug.2_RNA NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN family with sequence similarity 62 (C2 domain 155 integral to membrane|plasma membrane 0 GAGCATCCACCTGAGGACCTT 0.522 NA 19 105 1.16e-05 1.85e-05 1 0 ZBTB38 253461 broad.mit.edu 37 3 141163889 141163889 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:141163889A>T uc003etw.2 + 8 3641 c.2659A>T c.(2659-2661)AGC>TGC p.S887C ZBTB38_uc010hun.2_Missense_Mutation_p.S884C|ZBTB38_uc010huo.2_Missense_Mutation_p.S887C|ZBTB38_uc003ety.2_Missense_Mutation_p.S887C|ZBTB38_uc010hup.2_Missense_Mutation_p.S888C NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 887 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CAGTGGAGACAGCCCACTCGG 0.507 NA 19 65 0 0 0 0 XRN1 54464 broad.mit.edu 37 3 142030457 142030457 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:142030457G>C uc003eus.2 - 42 5084 c.5017C>G c.(5017-5019)CAA>GAA p.Q1673E XRN1_uc010huu.2_Missense_Mutation_p.Q1127E|XRN1_uc003eut.2_Missense_Mutation_p.Q1660E|XRN1_uc003euu.2_Missense_Mutation_p.Q1661E NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 1673 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 CTATGGCCTTGAGAGGCAGTT 0.403 NA 30 170 0 0 0 0 SLC9A9 285195 broad.mit.edu 37 3 143292939 143292939 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:143292939C>A uc003evn.2 - 8 1173 c.991G>T c.(991-993)GGC>TGC p.G331C NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 331 Helical; (Potential). regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 CCTGTTAGGCCGGCAGCCTCG 0.537 NA 9 66 0.000274275 0.000411185 1 0 PLSCR4 57088 broad.mit.edu 37 3 145938675 145938675 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:145938675T>G uc010huy.2 - 3 374 c.45A>C c.(43-45)GAA>GAC p.E15D PLSCR4_uc010huz.2_Missense_Mutation_p.E15D|PLSCR4_uc003evt.3_Missense_Mutation_p.E15D|PLSCR4_uc010hva.2_Missense_Mutation_p.E15D|PLSCR4_uc003evu.3_5'UTR NM_001128305 NP_001121777 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 isoform a 15 Cytoplasmic (By similarity). blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding 0 GATTTTCCATTTCACCTGCAG 0.393 NA 11 33 0 0 0 0 CPA3 1359 broad.mit.edu 37 3 148596303 148596303 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:148596303C>A uc003ewm.2 + 4 397 c.345C>A c.(343-345)AGC>AGA p.S115R NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 115 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GCAGGCACAGCTACGCAAAAT 0.313 NA 67 39 3.05e-18 6.11e-18 1 0 VEPH1 79674 broad.mit.edu 37 3 157146130 157146130 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:157146130G>C uc003fbj.1 - 5 994 c.677C>G c.(676-678)GCA>GGA p.A226G VEPH1_uc003fbk.1_Missense_Mutation_p.A226G|VEPH1_uc010hvu.1_Missense_Mutation_p.A226G NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 226 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TTTTTTCTTTGCTGCTACATG 0.438 NA 14 89 0 0 0 0 SCHIP1 29970 broad.mit.edu 37 3 159583964 159583964 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:159583964G>A uc003fcs.1 + 3 838 c.772G>A c.(772-774)GAG>AAG p.E258K SCHIP1_uc003fcq.1_Missense_Mutation_p.E334K|SCHIP1_uc003fcr.1_Missense_Mutation_p.E247K|SCHIP1_uc003fct.1_Missense_Mutation_p.E245K|SCHIP1_uc010hvz.1_Missense_Mutation_p.E218K|SCHIP1_uc003fcu.1_Missense_Mutation_p.E15K|SCHIP1_uc003fcv.1_Missense_Mutation_p.E31K NM_014575 NP_055390 Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 258 cytoplasm identical protein binding|protein binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) ACAGAAAAATGAGAGAGAGTC 0.403 NA 27 141 0 0 0 0 SI 6476 broad.mit.edu 37 3 164741509 164741509 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:164741509T>A uc003fei.2 - 26 3010 c.2948A>T c.(2947-2949)TAT>TTT p.Y983F NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 983 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTTGACTGAATAAGAGTTATC 0.403 NA HNSCC(35;0.089) 10 47 0 0 0 0 MECOM 2122 broad.mit.edu 37 3 168806817 168806817 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:168806817G>T uc003ffi.3 - 15 3261 c.2992C>A c.(2992-2994)CAG>AAG p.Q998K MECOM_uc010hwk.1_Missense_Mutation_p.Q1012K|MECOM_uc003ffj.3_Missense_Mutation_p.Q1063K|MECOM_uc011bpi.1_Missense_Mutation_p.Q990K|MECOM_uc003ffn.3_Missense_Mutation_p.Q998K|MECOM_uc003ffk.2_Missense_Mutation_p.Q989K|MECOM_uc003ffl.2_Missense_Mutation_p.Q1149K|MECOM_uc011bpj.1_Missense_Mutation_p.Q1186K|MECOM_uc011bpk.1_Missense_Mutation_p.Q988K NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 998 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 TGTAACGGCTGCTTAAGTTCC 0.393 NA 21 82 4.4e-07 7.32e-07 1 0 TNIK 23043 broad.mit.edu 37 3 170781743 170781743 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:170781743G>T uc003fhh.2 - 33 4355 c.4010C>A c.(4009-4011)GCA>GAA p.A1337E TNIK_uc003fhi.2_Missense_Mutation_p.A1282E|TNIK_uc003fhj.2_Missense_Mutation_p.A1308E|TNIK_uc003fhk.2_Missense_Mutation_p.A1329E|TNIK_uc003fhl.2_Missense_Mutation_p.A1253E|TNIK_uc003fhm.2_Missense_Mutation_p.A1274E|TNIK_uc003fhn.2_Missense_Mutation_p.A1300E|TNIK_uc003fho.2_Missense_Mutation_p.A1245E|TNIK_uc003fhg.2_Missense_Mutation_p.A515E NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1337 actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCGCACGGATGCAAAAAATAC 0.403 NA 52 40 6.82e-30 1.43e-29 1 0 TNIK 23043 broad.mit.edu 37 3 170805171 170805171 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:170805171C>T uc003fhh.2 - 24 3191 c.2846G>A c.(2845-2847)CGC>CAC p.R949H TNIK_uc003fhi.2_Missense_Mutation_p.R894H|TNIK_uc003fhj.2_Missense_Mutation_p.R920H|TNIK_uc003fhk.2_Missense_Mutation_p.R941H|TNIK_uc003fhl.2_Missense_Mutation_p.R865H|TNIK_uc003fhm.2_Missense_Mutation_p.R886H|TNIK_uc003fhn.2_Missense_Mutation_p.R912H|TNIK_uc003fho.2_Missense_Mutation_p.R857H|TNIK_uc003fhg.2_Missense_Mutation_p.R127H NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 949 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GGTTGAGACGCGCCCCAGTCC 0.582 NA 26 146 0 0 0 0 FNDC3B 64778 broad.mit.edu 37 3 172059019 172059019 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:172059019C>T uc003fhy.2 + 17 2141 c.1969C>T c.(1969-1971)CAG>TAG p.Q657* FNDC3B_uc003fhz.3_Nonsense_Mutation_p.Q657* NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 657 Fibronectin type-III 4. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CGGACACAGCCAGGTTGGTTT 0.443 NA 160 139 0 0 0 0 NAALADL2 254827 broad.mit.edu 37 3 175184791 175184791 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:175184791A>G uc003fit.2 + 8 1439 c.1352A>G c.(1351-1353)CAT>CGT p.H451R NAALADL2_uc003fiu.1_Missense_Mutation_p.H444R|NAALADL2_uc010hwy.1_Missense_Mutation_p.H225R|NAALADL2_uc010hwz.1_Missense_Mutation_p.H45R NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 451 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GTTGGCAGCCATCATCACACT 0.363 NA 66 310 0 0 0 0 USP13 8975 broad.mit.edu 37 3 179418886 179418886 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:179418886C>A uc003fkh.2 + 4 527 c.446C>A c.(445-447)GCA>GAA p.A149E USP13_uc003fkf.2_Missense_Mutation_p.A149E NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 149 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TATGAAATAGCACTACCAAAT 0.443 NA 41 56 4.14e-20 8.4e-20 1 0 LAMP3 27074 broad.mit.edu 37 3 182841971 182841971 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:182841971C>A uc003flh.3 - 6 1373 c.1149G>T c.(1147-1149)GTG>GTT p.V383V NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 383 Helical; (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) TCACAGGAAGCACAATTGTGT 0.423 NA 25 100 1.66e-10 2.98e-10 1 0 MCF2L2 23101 broad.mit.edu 37 3 182924003 182924003 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:182924003C>A uc003fli.1 - 24 2803 c.2713_splice c.e24-1 p.L905_splice NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GTGTCATCAGCTATTATAAAG 0.408 NA 25 133 4.27e-12 7.84e-12 1 0 YEATS2 55689 broad.mit.edu 37 3 183508669 183508669 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:183508669G>A uc003fly.2 + 21 3193 c.2998G>A c.(2998-3000)GCC>ACC p.A1000T YEATS2_uc003flz.2_Missense_Mutation_p.A79T NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1000 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) TGTGAGCCAGGCCACCGTGGG 0.597 NA 32 140 0 0 0 0 HTR3E 285242 broad.mit.edu 37 3 183823166 183823166 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:183823166C>A uc010hxq.2 + 6 1137 c.671C>A c.(670-672)ACC>AAC p.T224N HTR3E_uc003fml.3_Missense_Mutation_p.T209N|HTR3E_uc003fmm.2_Missense_Mutation_p.T239N|HTR3E_uc010hxr.2_Missense_Mutation_p.T250N|HTR3E_uc003fmn.2_Missense_Mutation_p.T224N NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 224 Extracellular (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) AGCAAGGCCACCGCAAAGTTG 0.527 NA 17 70 1.15e-07 1.93e-07 1 0 IL1RAP 3556 broad.mit.edu 37 3 190326880 190326880 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:190326880G>T uc003fsm.1 + 5 653 c.447G>T c.(445-447)CTG>CTT p.L149L IL1RAP_uc003fsk.2_Silent_p.L149L|IL1RAP_uc003fsl.2_Silent_p.L149L|IL1RAP_uc010hzf.2_Silent_p.L8L|IL1RAP_uc010hzg.1_Silent_p.L149L|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.L149L|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Silent_p.L149L NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 149 Extracellular (Potential).|Ig-like C2-type 2. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) TGCATAAACTGTATATAGAAT 0.388 NA 26 115 1.43e-11 2.61e-11 1 0 PYDC2 152138 broad.mit.edu 37 3 191179206 191179206 + Silent SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:191179206T>G uc011bso.1 + 1 255 c.255T>G c.(253-255)TCT>TCG p.S85S NM_001083308 NP_001076777 Q56P42 PYDC2_HUMAN pyrin domain containing 2 85 DAPIN. cytoplasm|nucleus 0 CGCATCTGTCTGGGAGAGCTG 0.517 NA 30 180 0 0 0 0 ACAP2 23527 broad.mit.edu 37 3 195012437 195012437 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:195012437T>A uc003fun.3 - 20 2302 c.2061A>T c.(2059-2061)ACA>ACT p.T687T NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 687 ANK 2. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 GCAGTTACCCTGTGTGCCCTA 0.403 NA 19 114 0 0 0 0 LMLN 89782 broad.mit.edu 37 3 197746225 197746225 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:197746225A>T uc011buo.1 + 12 1356 c.1334A>T c.(1333-1335)AAG>ATG p.K445M LMLN_uc003fyt.2_Missense_Mutation_p.K430M|LMLN_uc010iar.2_Missense_Mutation_p.K482M|LMLN_uc010ias.2_Missense_Mutation_p.K393M|LMLN_uc003fyu.2_Missense_Mutation_p.K242M NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 445 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) AATTTGCAGAAGTTCCCTAAG 0.468 NA 16 67 0 0 0 0 NOP14 8602 broad.mit.edu 37 4 2958516 2958516 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:2958516A>G uc003ggj.1 - 3 425 c.353T>C c.(352-354)ATC>ACC p.I118T C4orf10_uc003ggi.1_Intron|NOP14_uc003ggk.3_Missense_Mutation_p.I118T|NOP14_uc003ggl.2_Missense_Mutation_p.I118T|NOP14_uc010icq.1_RNA NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 118 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 TAGATTGTAGATGCTTTTTTT 0.358 NA 7 40 0 0 0 0 OTOP1 133060 broad.mit.edu 37 4 4199579 4199579 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:4199579C>T uc003ghp.1 - 5 1012 c.982G>A c.(982-984)GTG>ATG p.V328M NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 328 Helical; (Potential). biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACCACCACAGCAATGGTG 0.547 NA 24 52 0 0 0 0 C4orf6 10141 broad.mit.edu 37 4 5527953 5527953 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:5527953C>T uc003gii.2 + 2 352 c.177C>T c.(175-177)GAC>GAT p.D59D NM_005750 NP_005741 Q99440 CD006_HUMAN chromosome 4 open reading frame 6 59 nervous system development 0 GAACTGCAGACACTGCAGATA 0.448 NA 18 51 0 0 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6107405 6107405 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:6107405G>T uc003giu.3 - 3 695 c.419C>A c.(418-420)GCG>GAG p.A140E JAKMIP1_uc010idb.1_Missense_Mutation_p.A140E|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.A140E|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.A140E|JAKMIP1_uc010ide.2_Missense_Mutation_p.A140E NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 140 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 GGCCCTGCGCGCCTCCTCGCG 0.701 NA 5 9 3.6e-05 5.62e-05 1 0 WFS1 7466 broad.mit.edu 37 4 6296916 6296916 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:6296916G>T uc003giy.2 + 7 1027 c.861G>T c.(859-861)AAG>AAT p.K287N WFS1_uc003gix.2_Missense_Mutation_p.K287N|WFS1_uc003giz.2_Missense_Mutation_p.K105N NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 287 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) TGCGTCTGAAGGTGAGTGACC 0.657 NA 24 45 3.8e-20 7.72e-20 1 0 BOD1L 259282 broad.mit.edu 37 4 13605783 13605783 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:13605783G>T uc003gmz.1 - 10 2858 c.2741C>A c.(2740-2742)TCA>TAA p.S914* BOD1L_uc010idr.1_Nonsense_Mutation_p.S251* NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 914 Lys-rich. DNA binding ovary(5)|breast(1) 6 TTGAGTTTTTGATTTAGACTT 0.383 NA 34 103 4.32e-19 8.74e-19 1 0 CD38 952 broad.mit.edu 37 4 15780186 15780186 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:15780186G>T uc011bxc.1 + 1 256 c.149G>T c.(148-150)TGG>TTG p.W50L CD38_uc003goj.1_Missense_Mutation_p.W50L|CD38_uc003gol.1_Missense_Mutation_p.W50L NM_001775 NP_001766 P28907 CD38_HUMAN CD38 antigen 50 Extracellular (Potential). B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity ovary(2) 2 CGCCAGCAGTGGAGCGGTCCG 0.617 NA 36 84 2.87e-16 5.64e-16 1 0 SLIT2 9353 broad.mit.edu 37 4 20255599 20255599 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:20255599C>A uc003gpr.1 + 1 365 c.161C>A c.(160-162)CCC>CAC p.P54H SLIT2_uc003gps.1_Missense_Mutation_p.P54H NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 54 LRRNT. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AGGAATATCCCCCGCAACACC 0.667 NA 20 65 9.96e-16 1.94e-15 1 0 SLIT2 9353 broad.mit.edu 37 4 20568976 20568976 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:20568976C>T uc003gpr.1 + 27 3021 c.2817C>T c.(2815-2817)GAC>GAT p.D939D SLIT2_uc003gps.1_Silent_p.D931D NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 939 EGF-like 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 ATCCAGTTGACTTTTACCGAT 0.383 NA 32 79 0 0 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25314461 25314461 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:25314461C>A uc003grl.3 + 1 66 c.30C>A c.(28-30)GCC>GCA p.A10A NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 10 methyltransferase activity|nucleic acid binding|zinc ion binding ovary(2) 2 Breast(46;0.0503) GGTTTGAAGCCGTGGAGGCAG 0.652 NA OREG0016141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 108 6.77e-33 1.43e-32 1 0 PCDH7 5099 broad.mit.edu 37 4 30725162 30725162 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:30725162C>T uc003gsk.1 + 1 3126 c.2118C>T c.(2116-2118)ACC>ACT p.T706T PCDH7_uc011bxw.1_Silent_p.T659T|PCDH7_uc011bxx.1_Silent_p.T706T NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 706 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 AACATCAGACCACATACACTT 0.443 NA 29 70 0 0 0 0 ARAP2 116984 broad.mit.edu 37 4 36230489 36230489 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:36230489C>G uc003gsq.1 - 2 958 c.620G>C c.(619-621)AGT>ACT p.S207T ARAP2_uc003gsr.1_Missense_Mutation_p.S207T NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 207 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AGGGAGCTTACTGAGATTTTC 0.338 NA 25 84 0 0 0 0 TBC1D1 23216 broad.mit.edu 37 4 37903767 37903767 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:37903767C>A uc003gtb.2 + 2 394 c.51C>A c.(49-51)GTC>GTA p.V17V TBC1D1_uc011byd.1_Silent_p.V17V|TBC1D1_uc010ifd.2_Silent_p.V17V NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 17 nucleus Rab GTPase activator activity ovary(1) 1 CTAACGAGGTCTCGGTGGATT 0.522 NA 31 73 3.99e-17 7.9e-17 1 0 KLB 152831 broad.mit.edu 37 4 39408952 39408952 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:39408952G>T uc003gua.2 + 1 480 c.383G>T c.(382-384)AGT>ATT p.S128I KLB_uc011byj.1_Missense_Mutation_p.S128I NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 128 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 AATGGTTCCAGTGACAGTTAT 0.398 NA 37 113 2.1e-21 4.28e-21 1 0 SLC30A9 10463 broad.mit.edu 37 4 42022531 42022531 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:42022531A>T uc003gwl.2 + 4 579 c.433A>T c.(433-435)AGT>TGT p.S145C SLC30A9_uc011byx.1_5'UTR NM_006345 NP_006336 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), 145 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 CCTCAAATCCAGGTAATTTTT 0.348 NA 30 67 0 0 0 0 KCTD8 386617 broad.mit.edu 37 4 44450416 44450416 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:44450416A>T uc003gwu.2 - 1 409 c.125T>A c.(124-126)TTC>TAC p.F42Y NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 42 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 TACTTCAGGGAAGGGCGAGGG 0.498 NA HNSCC(17;0.042) 5 24 0 0 0 0 LRRC66 339977 broad.mit.edu 37 4 52860966 52860966 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:52860966C>A uc003gzi.2 - 4 2235 c.2222G>T c.(2221-2223)GGG>GTG p.G741V NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 741 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CTTGCTTGCCCCTGAGCTCTC 0.493 NA 37 96 9.63e-15 1.85e-14 1 0 PDGFRA 5156 broad.mit.edu 37 4 55139799 55139799 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:55139799G>C uc003han.3 + 10 1791 c.1460G>C c.(1459-1461)CGT>CCT p.R487P PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R381P|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 487 Ig-like C2-type 5.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GTGGAGGGCCGTGTGACTTTC 0.522 NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 28 78 0 0 0 0 KIT 3815 broad.mit.edu 37 4 55604710 55604710 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:55604710A>G uc010igr.2 + 21 3005 c.2918A>G c.(2917-2919)CAC>CGC p.H973R KIT_uc010igs.2_Missense_Mutation_p.H969R NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 973 Cytoplasmic (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTGCTTGTGCACGACGATGTC 0.512 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 46 111 0 0 0 0 AASDH 132949 broad.mit.edu 37 4 57215852 57215852 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:57215852A>T uc003hbn.2 - 11 2218 c.2065T>A c.(2065-2067)TCT>ACT p.S689T AASDH_uc010ihb.2_Missense_Mutation_p.S204T|AASDH_uc011caa.1_Missense_Mutation_p.S536T|AASDH_uc003hbo.2_Missense_Mutation_p.S589T|AASDH_uc011cab.1_Missense_Mutation_p.S204T|AASDH_uc010ihc.2_Missense_Mutation_p.S689T|AASDH_uc003hbp.2_Missense_Mutation_p.S689T NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 689 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GAATTCAGAGACAAAATTTGA 0.393 NA 24 79 0 0 0 0 TECRL 253017 broad.mit.edu 37 4 65275045 65275045 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:65275045C>A uc003hcv.2 - 1 134 c.25G>T c.(25-27)GCT>TCT p.A9S TECRL_uc003hcw.2_Missense_Mutation_p.A9S NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 9 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 CGTTCCGAAGCGAGGGACTTG 0.393 NA 25 57 4.6e-10 8.2e-10 1 0 EPHA5 2044 broad.mit.edu 37 4 66356139 66356139 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:66356139C>G uc003hcy.2 - 5 1551 c.1358G>C c.(1357-1359)GGA>GCA p.G453A EPHA5_uc003hcx.2_Missense_Mutation_p.G384A|EPHA5_uc003hcz.2_Missense_Mutation_p.G453A|EPHA5_uc011cah.1_Missense_Mutation_p.G453A|EPHA5_uc011cai.1_Missense_Mutation_p.G453A|EPHA5_uc003hda.2_Missense_Mutation_p.G453A NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 453 Fibronectin type-III 1.|Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CTGCCGGGCTCCTGGGCTCAA 0.468 NA TSP Lung(17;0.13) 21 58 0 0 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68919756 68919756 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:68919756A>T uc003hdt.1 - 10 1237 c.1188T>A c.(1186-1188)GAT>GAA p.D396E LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 396 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 TGTCATGATTATCATAAACCA 0.368 NA 16 45 0 0 0 0 UGT2B11 10720 broad.mit.edu 37 4 70080161 70080161 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:70080161C>A uc003heh.2 - 1 289 c.280G>T c.(280-282)GTT>TTT p.V94F uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 94 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 CATCTCTTAACCTGTTGCATG 0.313 NA 48 118 4.64e-19 9.38e-19 1 0 CSN2 1447 broad.mit.edu 37 4 70823471 70823471 + Missense_Mutation SNP A A T rs139725489 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:70823471A>T uc003hes.3 - 5 209 c.196T>A c.(196-198)TAT>AAT p.Y66N CSN2_uc003het.3_Missense_Mutation_p.Y65N NM_001891 NP_001882 P05814 CASB_HUMAN casein beta precursor 66 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity 0 ACGAATGGATAGATCAGAGGC 0.443 NA 21 56 0 0 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73205293 73205293 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:73205293A>T uc003hgk.1 - 5 816 c.779T>A c.(778-780)GTA>GAA p.V260E NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 260 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCCCAGCAGTACCTCGATATT 0.478 NA 84 239 0 0 0 0 AFP 174 broad.mit.edu 37 4 74318195 74318195 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:74318195T>A uc003hgz.1 + 12 1553 c.1506T>A c.(1504-1506)ACT>ACA p.T502T AFP_uc003hha.1_Silent_p.T502T|AFP_uc011cbg.1_Silent_p.T276T NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 502 Albumin 3. transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGTGCTGCACTTCTTCATATG 0.443 NA Alpha-Fetoprotein_Hereditary_Persistence_of 27 76 0 0 0 0 HERC5 51191 broad.mit.edu 37 4 89407376 89407377 + Missense_Mutation DNP TG TG CT TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:89407376_89407377TG>CT uc003hrt.2 + 14 2001_2002 c.1848_1849TG>CT c.(1846-1851)ACTGTG>ACCTTG p.V617L HERC5_uc011cdm.1_Missense_Mutation_p.V255L NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 617 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity p.T616T(1) ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) GGAAAATGACTGTGGTAGGTAT 0.312 NA 13 32 0 0 0 0 GRID2 2895 broad.mit.edu 37 4 94006343 94006343 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:94006343C>A uc011cdt.1 + 3 700 c.442C>A c.(442-444)CCA>ACA p.P148T GRID2_uc010ikx.2_Missense_Mutation_p.P148T|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 148 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CTCAGTTCGCCCACCTGTCTA 0.478 NA 29 77 7.26e-15 1.4e-14 1 0 PDHA2 5161 broad.mit.edu 37 4 96761796 96761796 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:96761796C>A uc003htr.3 + 1 558 c.495C>A c.(493-495)GTC>GTA p.V165V NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 165 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ATGGCATCGTCGGTGCACAGG 0.507 NA 26 69 3.29e-13 6.16e-13 1 0 BANK1 55024 broad.mit.edu 37 4 102951361 102951361 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:102951361C>A uc003hvy.3 + 10 2113 c.1839C>A c.(1837-1839)GCC>GCA p.A613A BANK1_uc003hvx.3_Silent_p.A598A|BANK1_uc010ill.2_Silent_p.A480A|BANK1_uc003hvz.3_Silent_p.A583A NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 613 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GACCTCCTGCCCCCACACCCC 0.373 NA 25 48 6.33e-13 1.18e-12 1 0 LEF1 51176 broad.mit.edu 37 4 109088901 109088901 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:109088901C>T uc003hyt.1 - 1 678 c.23G>A c.(22-24)GGT>GAT p.G8D LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.G8D|LEF1_uc003hyv.1_Missense_Mutation_p.G8D|LEF1_uc010imb.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 8 Poly-Gly.|CTNNB1-binding (By similarity). canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) GCCGCCGCCACCTCCTCCGGA 0.642 NA 33 83 0 0 0 0 ENPEP 2028 broad.mit.edu 37 4 111470910 111470910 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:111470910G>T uc003iab.3 + 17 2711 c.2369G>T c.(2368-2370)GGG>GTG p.G790V NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 790 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) TATCGGTATGGGATGCAGAAC 0.388 NA 16 62 2e-07 3.35e-07 1 0 ANK2 287 broad.mit.edu 37 4 114274328 114274328 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:114274328C>A uc003ibe.3 + 38 4654 c.4554C>A c.(4552-4554)ACC>ACA p.T1518T ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.T1533T NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1485 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCAAAATGACCGCCATCTTGA 0.458 NA 26 70 9.39e-14 1.78e-13 1 0 C4orf31 79625 broad.mit.edu 37 4 121958113 121958113 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:121958113G>C uc003idq.1 - 4 1540 c.1013C>G c.(1012-1014)GCC>GGC p.A338G NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 338 0 CTTCTGTTTGGCTTCTTCCTT 0.438 NA 22 71 0 0 0 0 INPP4B 8821 broad.mit.edu 37 4 142950038 142950038 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:142950038T>C uc003iix.3 - 27 3267 c.2672A>G c.(2671-2673)AAG>AGG p.K891R INPP4B_uc003iiw.3_Missense_Mutation_p.K891R|INPP4B_uc011chm.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 891 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) TTTGATATTCTTCAGTACATT 0.393 NA 11 31 0 0 0 0 INPP4B 8821 broad.mit.edu 37 4 143235901 143235901 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:143235901G>T uc003iix.3 - 9 982 c.387C>A c.(385-387)GTC>GTA p.V129V INPP4B_uc003iiw.3_Silent_p.V129V|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 129 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) GTTCTGGTAGGACACTGGTTC 0.433 NA 36 99 9.18e-22 1.88e-21 1 0 GYPB 2994 broad.mit.edu 37 4 144920591 144920591 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:144920591G>T uc003ijm.1 - 3 204 c.148C>A c.(148-150)CAA>AAA p.Q50K GYPA_uc003ijn.2_Intron|GYPB_uc011chs.1_RNA|GYPB_uc011cht.1_RNA|GYPB_uc011chu.1_RNA|GYPB_uc010ioo.1_RNA|GYPB_uc010iop.2_RNA|GYPB_uc011chv.1_RNA|GYPB_uc011chw.1_RNA|GYPB_uc011chx.1_Intron|GYPB_uc011chy.1_RNA|GYPB_uc011chz.1_RNA NM_002100 NP_002091 P06028 GLPB_HUMAN glycophorin B precursor 50 Extracellular (Potential). integral to plasma membrane 0 all_hematologic(180;0.158) TGGACAAGTTGTCCCGTTTCT 0.328 NA 4 11 0.00024832 0.000374451 1 0 GYPA 2993 broad.mit.edu 37 4 145035886 145035886 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:145035886G>T uc003ijo.3 - 6 508 c.392C>A c.(391-393)CCT>CAT p.P131H GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.P98H|GYPA_uc003ijp.3_Missense_Mutation_p.P99H|GYPA_uc010ioq.2_Missense_Mutation_p.P118H|GYPA_uc010ior.2_Missense_Mutation_p.P66H|GYPA_uc010ios.1_RNA NM_002099 NP_002090 P02724 GLPA_HUMAN glycophorin A precursor 131 Cytoplasmic. interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2) 2 all_hematologic(180;0.15) GTCTGTGTCAGGTGAGGGGAG 0.328 NA 13 31 7.93e-07 1.31e-06 1 0 KIAA0922 23240 broad.mit.edu 37 4 154525579 154525579 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:154525579A>T uc003inm.3 + 25 3464 c.3412A>T c.(3412-3414)AAT>TAT p.N1138Y KIAA0922_uc010ipp.2_Missense_Mutation_p.N1139Y|KIAA0922_uc010ipq.2_Missense_Mutation_p.N907Y NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1138 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CAGGAAAAATAATGGTAATCT 0.403 NA 9 33 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155163899 155163899 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:155163899C>A uc003inw.2 - 22 5602 c.5602G>T c.(5602-5604)GGG>TGG p.G1868W NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1868 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTGGGCATCCCTTTATCTGTG 0.383 NA 14 28 1.57e-10 2.84e-10 1 0 FGA 2243 broad.mit.edu 37 4 155505381 155505381 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:155505381G>C uc003iod.1 - 6 2554 c.2496C>G c.(2494-2496)AAC>AAG p.N832K NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 832 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CATAAGGACTGTTATTCCTTG 0.498 NA 34 100 0 0 0 0 LRAT 9227 broad.mit.edu 37 4 155665738 155665738 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:155665738G>T uc003iom.1 + 1 587 c.260G>T c.(259-261)CGC>CTC p.R87L uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R87L NM_004744 NP_004735 O95237 LRAT_HUMAN lecithin retinol acyltransferase 87 Cytoplasmic (By similarity). response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1) 1 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) GACATGGGGCGCACGCAGAAG 0.597 NA 20 51 1.56e-12 2.89e-12 1 0 GUCY1B3 2983 broad.mit.edu 37 4 156696131 156696131 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:156696131A>T uc003ipc.2 + 3 256 c.89A>T c.(88-90)CAG>CTG p.Q30L GUCY1B3_uc011cio.1_Missense_Mutation_p.Q30L|GUCY1B3_uc011cip.1_Missense_Mutation_p.Q10L|GUCY1B3_uc003ipd.2_5'UTR|GUCY1B3_uc010iqf.2_Missense_Mutation_p.Q30L|GUCY1B3_uc010iqg.2_5'UTR|GUCY1B3_uc011ciq.1_5'UTR NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 30 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) AAAGAGGCACAGTTAGATGAA 0.318 NA 41 92 0 0 0 0 GRIA2 2891 broad.mit.edu 37 4 158256999 158256999 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:158256999G>T uc003ipm.3 + 10 1902 c.1443G>T c.(1441-1443)TGG>TGT p.W481C GRIA2_uc011cit.1_Missense_Mutation_p.W434C|GRIA2_uc003ipl.3_Missense_Mutation_p.W481C|GRIA2_uc003ipk.3_Missense_Mutation_p.W434C|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 481 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CGAAAATTTGGAATGGGATGG 0.433 NA 5 11 1.02e-07 1.73e-07 1 0 TKTL2 84076 broad.mit.edu 37 4 164394427 164394427 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:164394427T>C uc003iqp.3 - 1 621 c.460A>G c.(460-462)ATG>GTG p.M154V NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 154 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCATCTCCCATAAGGCAGAAC 0.542 NA 30 80 0 0 0 0 GALNTL6 442117 broad.mit.edu 37 4 173873316 173873316 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:173873316G>T uc003isv.2 + 10 2014 c.1278G>T c.(1276-1278)AAG>AAT p.K426N NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 426 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 AGCAGCTCAAGTGCAAGGACT 0.597 NA 15 37 2.32e-05 3.65e-05 1 0 WWC2 80014 broad.mit.edu 37 4 184186193 184186193 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:184186193G>T uc010irx.2 + 12 2154 c.1972G>T c.(1972-1974)GTG>TTG p.V658L WWC2_uc003ivk.3_Missense_Mutation_p.V453L|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.V340L|WWC2_uc003ivn.3_Missense_Mutation_p.V173L|WWC2_uc010irz.2_5'Flank NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 658 ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) AACCACTTGTGTGTCGGCTGC 0.483 NA 15 24 1.52e-12 2.82e-12 1 0 SORBS2 8470 broad.mit.edu 37 4 186533086 186533086 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:186533086C>T uc003iyl.2 - 18 3790 c.2932G>A c.(2932-2934)GGT>AGT p.G978S SORBS2_uc003iyh.2_Missense_Mutation_p.G702S|SORBS2_uc011ckw.1_Missense_Mutation_p.G539S|SORBS2_uc003iyi.2_Missense_Mutation_p.G609S|SORBS2_uc011ckx.1_Missense_Mutation_p.G544S|SORBS2_uc003iyk.2_Missense_Mutation_p.G522S|SORBS2_uc003iym.2_Missense_Mutation_p.G1078S|SORBS2_uc003iyn.1_Missense_Mutation_p.G569S|SORBS2_uc011cku.1_Missense_Mutation_p.G370S|SORBS2_uc011ckv.1_Missense_Mutation_p.G882S|SORBS2_uc003iyd.2_Missense_Mutation_p.G677S|SORBS2_uc003iye.2_Missense_Mutation_p.G551S|SORBS2_uc003iya.2_Missense_Mutation_p.G498S|SORBS2_uc003iyb.2_Missense_Mutation_p.G451S|SORBS2_uc003iyc.2_Missense_Mutation_p.G431S|SORBS2_uc003iyg.2_Missense_Mutation_p.G1092S|SORBS2_uc003iyf.2_Missense_Mutation_p.G514S|SORBS2_uc003iyo.1_Missense_Mutation_p.G427S NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 978 SH3 2. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GGGATTTTACCTTCATACCAG 0.398 NA 9 41 0 0 0 0 ZFP42 132625 broad.mit.edu 37 4 188924241 188924241 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:188924241T>A uc003izg.1 + 3 525 c.280T>A c.(280-282)TCC>ACC p.S94T ZFP42_uc003izh.1_Missense_Mutation_p.S94T|ZFP42_uc003izi.1_Missense_Mutation_p.S94T NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 94 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) ACTTTTTGAGTCCTTGGAATA 0.428 NA 34 58 0 0 0 0 TRIML2 205860 broad.mit.edu 37 4 189018271 189018271 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:189018271G>T uc003izl.2 - 6 575 c.539C>A c.(538-540)ACA>AAA p.T180K TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.T255K NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 180 ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ACTCAGGTCTGTGATATGAGC 0.498 NA 31 95 4.75e-14 9.02e-14 1 0 TRIML1 339976 broad.mit.edu 37 4 189060957 189060957 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:189060957G>T uc003izm.1 + 1 360 c.245G>T c.(244-246)CGG>CTG p.R82L NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 82 multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AGGCAGCTCCGGTCCCAGGTG 0.637 NA 18 48 6.94e-10 1.24e-09 1 0 ADCY2 108 broad.mit.edu 37 5 7789793 7789793 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:7789793C>A uc003jdz.1 + 20 2575 c.2508C>A c.(2506-2508)AAC>AAA p.N836K ADCY2_uc011cmo.1_Missense_Mutation_p.N656K|ADCY2_uc010itm.1_Missense_Mutation_p.N32K NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 836 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TATGGAAGAACAAATTCAAAA 0.483 NA 26 93 2.13e-12 3.93e-12 1 0 DNAH5 1767 broad.mit.edu 37 5 13788868 13788868 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:13788868G>T uc003jfd.2 - 51 8646 c.8604C>A c.(8602-8604)GAC>GAA p.D2868E NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2868 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CAAAATATGTGTCAATTCCAC 0.413 NA Kartagener_syndrome 26 83 2.45e-14 4.67e-14 1 0 DNAH5 1767 broad.mit.edu 37 5 13864714 13864714 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:13864714C>A uc003jfd.2 - 28 4430 c.4388G>T c.(4387-4389)TGG>TTG p.W1463L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1463 Potential.|Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AAAAGCCTGCCAGTCCTTCAA 0.507 NA Kartagener_syndrome 23 51 9.96e-16 1.94e-15 1 0 TRIO 7204 broad.mit.edu 37 5 14488346 14488346 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:14488346G>T uc003jff.2 + 48 7615 c.7609G>T c.(7609-7611)GTG>TTG p.V2537L TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Missense_Mutation_p.V2186L NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2537 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CGAGCAGTCCGTGCAGTCCAC 0.721 NA 7 14 8.13e-05 0.000124651 1 0 CDH10 1008 broad.mit.edu 37 5 24537561 24537561 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:24537561C>A uc003jgr.1 - 3 786 c.454G>T c.(454-456)GAT>TAT p.D152Y CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 152 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TCATTGATATCATGAATTTTG 0.413 NA HNSCC(23;0.051) 45 100 2.25e-16 4.43e-16 1 0 CDH6 1004 broad.mit.edu 37 5 31323216 31323216 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:31323216C>A uc003jhe.1 + 12 2500 c.2174C>A c.(2173-2175)ACG>AAG p.T725K NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 725 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 GAAAATGACACGGACCCCACT 0.562 NA 13 35 0.00010058 0.000153788 1 0 TARS 6897 broad.mit.edu 37 5 33457373 33457373 + Silent SNP G G A rs113811412 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:33457373G>A uc003jhy.2 + 9 1144 c.849G>A c.(847-849)ACG>ACA p.T283T TARS_uc011cob.1_Silent_p.T271T|TARS_uc010iup.1_Silent_p.T224T|TARS_uc011coc.1_Silent_p.T304T|TARS_uc003jhz.2_Silent_p.T179T|TARS_uc011cod.1_Silent_p.T162T NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 283 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) ATTCCTCCACGTACTGGGAAG 0.388 NA 11 38 0 0 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33643537 33643537 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:33643537A>G uc003jia.1 - 10 1681 c.1518T>C c.(1516-1518)TTT>TTC p.F506F ADAMTS12_uc010iuq.1_Silent_p.F506F NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 506 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TAGAGCGACAAAAGCCCTTCA 0.498 NA HNSCC(64;0.19) 28 79 0 0 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991303 35991303 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:35991303G>T uc003jjv.1 - 1 197 c.40C>A c.(40-42)CTT>ATT p.L14I UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.L14I|UGT3A1_uc011cor.1_Missense_Mutation_p.L14I|UGT3A1_uc003jjy.1_Intron NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 14 integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACCCCAGAAAGAAGGAAGGCC 0.612 NA 33 79 6.01e-18 1.2e-17 1 0 RANBP3L 202151 broad.mit.edu 37 5 36260950 36260950 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:36260950C>T uc003jkh.2 - 8 1094 c.601G>A c.(601-603)GAT>AAT p.D201N RANBP3L_uc011cow.1_Missense_Mutation_p.D226N NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 201 intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) GAACATTTATCTTCATTTGGT 0.249 NA 3 10 0 0 0 0 C5orf42 65250 broad.mit.edu 37 5 37181062 37181062 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:37181062C>A uc011cpa.1 - 27 5698 c.5467G>T c.(5467-5469)GAG>TAG p.E1823* C5orf42_uc011coy.1_Nonsense_Mutation_p.E324*|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Nonsense_Mutation_p.E898* NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1823 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CTCTCCCTCTCAATATTGGGT 0.388 NA 9 33 4.69e-08 7.99e-08 1 0 EGFLAM 133584 broad.mit.edu 37 5 38438424 38438424 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:38438424C>T uc003jlc.1 + 17 2655 c.2331C>T c.(2329-2331)TCC>TCT p.S777S EGFLAM_uc003jlb.1_Silent_p.S777S|EGFLAM_uc003jle.1_Silent_p.S543S|EGFLAM_uc003jlf.1_Silent_p.S143S NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 777 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) ACTTCACCTCCGGAGTGAATG 0.512 NA 15 43 0 0 0 0 C9 735 broad.mit.edu 37 5 39342218 39342218 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:39342218T>A uc003jlv.3 - 2 247 c.158A>T c.(157-159)CAA>CTA p.Q53L NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 53 TSP type-1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) AGGATCGCATTGTGACCATTC 0.463 NA 15 66 0 0 0 0 SLC38A9 153129 broad.mit.edu 37 5 54945036 54945036 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:54945036T>C uc003jqf.2 - 11 1260 c.1059A>G c.(1057-1059)CCA>CCG p.P353P SLC38A9_uc003jqd.2_Silent_p.P290P|SLC38A9_uc010ivx.2_Intron|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Silent_p.P224P NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 353 amino acid transport|sodium ion transport integral to membrane 0 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) AAAGCTCACCTGGTACAAAAA 0.303 NA 6 12 0 0 0 0 BDP1 55814 broad.mit.edu 37 5 70819984 70819984 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:70819984G>T uc003kbp.1 + 25 5869 c.5606G>T c.(5605-5607)CGG>CTG p.R1869L BDP1_uc003kbo.2_Missense_Mutation_p.R1869L|BDP1_uc003kbq.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1869 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GTGACTCTTCGGGCTTCCCAG 0.468 NA 36 94 2.27e-22 4.66e-22 1 0 TMEM171 134285 broad.mit.edu 37 5 72427521 72427521 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:72427521A>T uc003kcm.2 + 4 1143 c.939A>T c.(937-939)ACA>ACT p.T313T TMEM171_uc003kcn.3_Silent_p.T312T NM_173490 NP_775761 Q8WVE6 TM171_HUMAN transmembrane protein 171 isoform 1 313 integral to membrane 0 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) CTGCAGCTACATTCTTGCCTC 0.378 NA 37 67 0 0 0 0 BHMT2 23743 broad.mit.edu 37 5 78378765 78378765 + Missense_Mutation SNP G G A rs147230129 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:78378765G>A uc003kft.2 + 5 607 c.584G>A c.(583-585)AGG>AAG p.R195K BHMT2_uc011cth.1_Missense_Mutation_p.R131K NM_017614 NP_060084 Q9H2M3 BHMT2_HUMAN betaine-homocysteine methyltransferase 2 195 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding ovary(1) 1 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) TGTGCTGTGAGGCTGGTGAAG 0.463 NA 50 114 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79034639 79034639 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:79034639C>A uc003kgc.2 + 2 10123 c.10051C>A c.(10051-10053)CGT>AGT p.R3351S NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3351 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGTTCTGGAGCGTGCAGATGA 0.488 NA 21 46 4.35e-09 7.58e-09 1 0 SERINC5 256987 broad.mit.edu 37 5 79470855 79470855 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:79470855C>T uc003kgj.2 - 5 602 c.473G>A c.(472-474)GGA>GAA p.G158E SERINC5_uc003kgk.2_Missense_Mutation_p.G158E|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.G158E|SERINC5_uc011ctj.1_Missense_Mutation_p.G158E NM_178276 NP_840060 Q86VE9 SERC5_HUMAN developmentally regulated protein TPO1 158 Helical; (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) TCCGACGGCTCCCACATAGCG 0.468 NA 5 8 0 0 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855120 79855120 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:79855120G>T uc010jam.2 - 4 1069 c.719C>A c.(718-720)CCC>CAC p.P240H ANKRD34B_uc003kgw.2_Missense_Mutation_p.P240H|ANKRD34B_uc010jan.2_Missense_Mutation_p.P240H NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 240 cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) GGGGAGCTTGGGCCCCTTAGG 0.527 NA 16 48 1.36e-06 2.23e-06 1 0 GPR98 84059 broad.mit.edu 37 5 89930999 89930999 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:89930999C>T uc003kju.2 + 10 2004 c.1908C>T c.(1906-1908)ATC>ATT p.I636I GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 636 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGGGGAAATCTGCAATATTT 0.358 NA 22 71 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89954097 89954097 + Splice_Site SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:89954097T>A uc003kju.2 + 21 4848 c.4752_splice c.e21+2 p.E1584_splice GPR98_uc003kjt.2_Splice_Site NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATACCAGAGGTAAGTAGTGAG 0.373 NA 18 40 0 0 0 0 MCTP1 79772 broad.mit.edu 37 5 94353071 94353071 + Missense_Mutation SNP C C A rs111625916 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:94353071C>A uc003kkx.2 - 2 838 c.838G>T c.(838-840)GGG>TGG p.G280W MCTP1_uc003kkv.2_Missense_Mutation_p.G59W|MCTP1_uc003kkw.2_Missense_Mutation_p.G59W|MCTP1_uc003kkz.2_Intron NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 280 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) ATGCTCTTACCTCCTCGATCT 0.403 NA 28 71 1.14e-10 2.05e-10 1 0 ELL2 22936 broad.mit.edu 37 5 95234300 95234300 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:95234300T>A uc003klr.3 - 8 1519 c.1169A>T c.(1168-1170)CAG>CTG p.Q390L NM_012081 NP_036213 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 390 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex central_nervous_system(1) 1 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) ATTTACAATCTGAGGAGGATG 0.537 NA 38 79 0 0 0 0 FAM174A 345757 broad.mit.edu 37 5 99871504 99871504 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:99871504G>T uc003knj.1 + 1 390 c.270G>T c.(268-270)GGG>GGT p.G90G uc003kni.2_5'Flank NM_198507 NP_940909 Q8TBP5 F174A_HUMAN family with sequence similarity 174, member A 90 Extracellular (Potential). integral to membrane 0 CTGTGGCCGGGCTTGAGACGG 0.726 NA 7 13 8.13e-05 0.000124651 1 0 SLCO4C1 353189 broad.mit.edu 37 5 101606491 101606491 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:101606491C>T uc003knm.2 - 3 926 c.639G>A c.(637-639)AGG>AGA p.R213R NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 213 Extracellular (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TGGTGCTATTCCTTGTTGTTA 0.333 NA 9 35 0 0 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101627047 101627047 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:101627047C>T uc003knm.2 - 2 906 c.619G>A c.(619-621)GAC>AAC p.D207N NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 207 Extracellular (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AGAAACTTACCTTCAAAAAGA 0.348 NA 17 45 0 0 0 0 PGGT1B 5229 broad.mit.edu 37 5 114573587 114573587 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:114573587C>G uc003kqw.3 - 4 468 c.447G>C c.(445-447)GCG>GCC p.A149A PGGT1B_uc003kqx.3_Silent_p.A26A|PGGT1B_uc010jch.2_Silent_p.A149A NM_005023 NP_005014 P53609 PGTB1_HUMAN geranylgeranyltransferase type 1 beta 149 PFTB 1. protein geranylgeranylation CAAX-protein geranylgeranyltransferase complex CAAX-protein geranylgeranyltransferase activity 0 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) Pravastatin(DB00175) CTCTCAAGCCCGCTAAGCAAG 0.388 NA 26 75 0 0 0 0 TMED7-TICAM2 100302736 broad.mit.edu 37 5 114916308 114916308 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:114916308T>C uc003krd.2 - 4 1652 c.646A>G c.(646-648)AAG>GAG p.K216E TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.K385E|TICAM2_uc003krc.2_Missense_Mutation_p.K216E NM_021649 NP_067681 Q86XR7 TCAM2_HUMAN toll-like receptor adaptor molecule 2 216 TIR. I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway Golgi apparatus|intrinsic to membrane|plasma membrane protein binding|transmembrane receptor activity 0 TGTTGTGTCTTATACACAGAC 0.378 NA 17 44 0 0 0 0 AQPEP 206338 broad.mit.edu 37 5 115336169 115336169 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:115336169G>T uc003kro.2 + 8 1719 c.1555G>T c.(1555-1557)GAG>TAG p.E519* AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 519 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 TTTCTTGAATGAGCATTTATT 0.378 NA 30 87 9.66e-10 1.72e-09 1 0 FTMT 94033 broad.mit.edu 37 5 121187730 121187730 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:121187730C>T uc003kss.2 + 1 81 c.72C>T c.(70-72)TGC>TGT p.C24C NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 24 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) CGGTGCGCTGCTGCTTCGCGC 0.731 NA 4 34 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127671152 127671152 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:127671152C>T uc003kuu.2 - 29 4281 c.3842G>A c.(3841-3843)TGT>TAT p.C1281Y FBN2_uc003kuv.2_Missense_Mutation_p.C1248Y NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1281 EGF-like 19; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TATACCTGCACACGATCTCCC 0.433 NA 26 98 0 0 0 0 RAD50 10111 broad.mit.edu 37 5 131953939 131953939 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:131953939A>T uc003kxi.2 + 21 3729 c.3342A>T c.(3340-3342)ACA>ACT p.T1114T RAD50_uc003kxh.2_Silent_p.T975T NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 1114 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGAGGACAACAGAACTTGTGA 0.318 NA Homologous_recombination 26 57 0 0 0 0 IL13 3596 broad.mit.edu 37 5 131993925 131993925 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:131993925C>A uc003kxj.1 + 1 61 c.47C>A c.(46-48)GCG>GAG p.A16E NM_002188 NP_002179 P35225 IL13_HUMAN interleukin 13 precursor 16 cellular component movement|immune response|inflammatory response|signal transduction extracellular space|soluble fraction cytokine activity ovary(1)|skin(1) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGCCTCATGGCGCTTTTGTTG 0.592 NA OREG0003464 type=REGULATORY REGION|Gene=IL13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 51 5.04e-11 9.14e-11 1 0 TGFBI 7045 broad.mit.edu 37 5 135394834 135394834 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:135394834G>T uc003lbf.3 + 13 1895 c.1734G>T c.(1732-1734)CTG>CTT p.L578L TGFBI_uc003lbg.3_Silent_p.L311L|TGFBI_uc003lbh.3_Silent_p.L404L|TGFBI_uc011cyb.1_Silent_p.L404L|TGFBI_uc010jed.2_Silent_p.L311L|TGFBI_uc010jee.2_5'Flank NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 578 FAS1 4. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATGAAATCCTGGTTAGCGGAG 0.502 NA 10 18 5.17e-11 9.37e-11 1 0 WNT8A 7478 broad.mit.edu 37 5 137419813 137419813 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:137419813G>C uc003lcd.1 + 1 40 c.35G>C c.(34-36)GGC>GCC p.G12A BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_5'UTR|WNT8A_uc011cyk.1_5'UTR NM_058244 NP_490645 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, 12 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity ovary(1)|lung(1)|breast(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCAGCTCTGGGCATATGCTGT 0.587 NA 13 38 0 0 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167848 140167848 + Missense_Mutation SNP C C G rs149133665 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140167848C>G uc003lhb.2 + 1 1973 c.1973C>G c.(1972-1974)GCG>GGG p.A658G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.A658G NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 658 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGAGCCGGCGCTGACAGCC 0.667 NA 19 81 0 0 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167951 140167951 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140167951G>A uc003lhb.2 + 1 2076 c.2076G>A c.(2074-2076)GCG>GCA p.A692A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.A692A NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 692 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGAGGCGGCGCTGGTGGATG 0.662 NA 24 67 0 0 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182402 140182402 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140182402G>T uc003lhf.2 + 1 1620 c.1620G>T c.(1618-1620)GCG>GCT p.A540A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.A540A NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 540 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCGATGCGGGCGTGCCGC 0.672 NA 50 131 4.45e-29 9.33e-29 1 0 PCDHA3 56145 broad.mit.edu 37 5 140182502 140182502 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140182502G>A uc003lhf.2 + 1 1720 c.1720G>A c.(1720-1722)GGT>AGT p.G574S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G574S NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 574 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGGCATCGGTGGCGCAGT 0.682 NA 44 86 0 0 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203532 140203532 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140203532G>T uc003lhl.2 + 1 2172 c.2172G>T c.(2170-2172)GCG>GCT p.A724A 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_Silent_p.A724A|PCDHA5_uc003lhj.1_Silent_p.A724A NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 724 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCTCGGCGCAGCCCACCG 0.657 NA 20 63 2.39e-15 4.64e-15 1 0 PCDHA10 56139 broad.mit.edu 37 5 140237321 140237321 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140237321C>G uc003lhx.2 + 1 1688 c.1688C>G c.(1687-1689)GCG>GGG p.A563G 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_uc011dad.1_Missense_Mutation_p.A563G NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 563 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGCTCCCGCGCTGCTGGCG 0.687 NA 25 20 0 0 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255363 140255364 + Nonsense_Mutation DNP CA CA AG TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140255363_140255364CA>AG uc003lic.2 + 1 433_434 c.306_307CA>AG c.(304-309)TGCAGT>TGAGGT p.102_103CS>*G 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.102_103CS>*G NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 102_103 Cadherin 1.|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) GCGCGGAGTGCAGTATCCACCT 0.554 NA 73 186 0 0 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140346602 140346602 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140346602C>A uc003lii.2 + 1 491 c.251C>A c.(250-252)GCG>GAG p.A84E 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_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.A84E NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 84 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCTGGGTGCGCCCAGTCCG 0.697 NA 11 28 4.38e-07 7.3e-07 1 0 PCDHB1 29930 broad.mit.edu 37 5 140433332 140433332 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140433332A>T uc003lik.1 + 1 2354 c.2277A>T c.(2275-2277)TCA>TCT p.S759S NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 759 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATGTGTTCAGCCACTGGCA 0.443 NA 6 92 0 0 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474516 140474516 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140474516G>T uc003lil.2 + 1 280 c.142G>T c.(142-144)GCC>TCC p.A48S PCDHB2_uc003lim.1_Intron NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 48 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCTTTGTGGCCAATTTGTT 0.498 NA 13 49 1.05e-09 1.87e-09 1 0 PCDHB3 56132 broad.mit.edu 37 5 140481907 140481907 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140481907G>C uc003lio.2 + 1 1674 c.1674G>C c.(1672-1674)TCG>TCC p.S558S uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 558 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGACAACTCGCCCTTCGTGC 0.711 NA 30 76 0 0 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562178 140562178 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140562178T>C uc003liv.2 + 1 1199 c.44T>C c.(43-45)CTT>CCT p.L15P PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 15 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) AGGCAAGTCCTTGTTTTCTTT 0.473 NA 39 101 0 0 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604444 140604444 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140604444A>G uc003ljb.2 + 1 1367 c.1367A>G c.(1366-1368)TAC>TGC p.Y456C PCDHB14_uc011dal.1_Missense_Mutation_p.Y303C NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 456 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAACCTCCTACACCCTGTTC 0.592 NA 58 184 0 0 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625859 140625859 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140625859A>T uc003lje.2 + 1 713 c.713A>T c.(712-714)AAT>ATT p.N238I NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 238 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCAATGACAATGCCCCGGAG 0.577 NA 8 23 0 0 0 0 ARAP3 64411 broad.mit.edu 37 5 141059771 141059771 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:141059771C>A uc003llm.2 - 2 361 c.283G>T c.(283-285)GTG>TTG p.V95L ARAP3_uc003lln.2_Missense_Mutation_p.V17L|ARAP3_uc003llo.1_Missense_Mutation_p.V95L NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 95 Pro-rich. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 GGCTTCGGCACGGGCTTAGGG 0.657 NA 22 73 7.42e-09 1.28e-08 1 0 SPRY4 81848 broad.mit.edu 37 5 141693814 141693814 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:141693814C>A uc003lml.2 - 2 1119 c.860G>T c.(859-861)AGC>ATC p.S287I SPRY4_uc010jgi.1_Missense_Mutation_p.S310I NM_001127496 NP_001120968 Q9C004 SPY4_HUMAN sprouty homolog 4 isoform 2 287 multicellular organismal development cytoplasm|ruffle membrane protein binding ovary(1)|lung(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCATCCCCGCTGGCTGCTTT 0.617 NA Testicular_Cancer_Familial_Clustering_of 12 33 0.00136819 0.00201271 1 0 POU4F3 5459 broad.mit.edu 37 5 145719828 145719828 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:145719828T>A uc003loa.2 + 2 927 c.838T>A c.(838-840)TCC>ACC p.S280T NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 280 Homeobox. sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAACGCACGTCCATCGCGGC 0.612 NA 21 45 0 0 0 0 PPP2R2B 5521 broad.mit.edu 37 5 145969694 145969694 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:145969694T>A uc003loe.2 - 9 1673 c.1148A>T c.(1147-1149)AAG>ATG p.K383M PPP2R2B_uc010jgm.2_Missense_Mutation_p.K372M|PPP2R2B_uc003log.3_Missense_Mutation_p.K383M|PPP2R2B_uc003lof.3_Missense_Mutation_p.K383M|PPP2R2B_uc003loi.3_Missense_Mutation_p.K386M|PPP2R2B_uc003loh.3_Missense_Mutation_p.K383M|PPP2R2B_uc003loj.3_Missense_Mutation_p.K363M|PPP2R2B_uc003lok.3_Missense_Mutation_p.K372M|PPP2R2B_uc011dbu.1_Missense_Mutation_p.K389M|PPP2R2B_uc011dbv.1_Missense_Mutation_p.K441M NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 383 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCCCGGGGCTTGCTGTTTTC 0.507 NA 38 82 0 0 0 0 SH3TC2 79628 broad.mit.edu 37 5 148407063 148407063 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:148407063C>A uc003lpu.2 - 11 2384 c.2232G>T c.(2230-2232)CTG>CTT p.L744L SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.L388L|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.L291L|SH3TC2_uc010jgx.2_Silent_p.L737L|SH3TC2_uc003lpv.1_Silent_p.L291L|SH3TC2_uc011dbz.1_Silent_p.L629L NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 744 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAGGCAGCCAGGGCCTGTC 0.592 NA 21 40 3.52e-12 6.47e-12 1 0 CAMK2A 815 broad.mit.edu 37 5 149636159 149636159 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:149636159C>A uc003lru.2 - 6 603 c.388G>T c.(388-390)GGG>TGG p.G130W CAMK2A_uc003lrt.2_Missense_Mutation_p.G130W|CAMK2A_uc010jhe.2_Missense_Mutation_p.G110W|CAMK2A_uc010jhf.1_Missense_Mutation_p.G2W NM_171825 NP_741960 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II 130 Protein kinase. interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1) 1 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCACCACCCCCATCTGGTGG 0.637 NA 6 30 3.6e-05 5.62e-05 1 0 ARSI 340075 broad.mit.edu 37 5 149678016 149678016 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:149678016A>G uc003lrv.2 - 2 1060 c.471T>C c.(469-471)TGT>TGC p.C157C NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 157 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGTGGGCAGACACTCCTTCC 0.607 NA 19 38 0 0 0 0 KIF4B 285643 broad.mit.edu 37 5 154394597 154394597 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:154394597A>T uc010jih.1 + 1 1338 c.1178A>T c.(1177-1179)CAG>CTG p.Q393L NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 393 Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAGAAGAATCAGTCCCTGGTA 0.468 NA 33 100 0 0 0 0 HAVCR1 26762 broad.mit.edu 37 5 156479381 156479381 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:156479381G>T uc010jij.1 - 4 849 c.664C>A c.(664-666)CAT>AAT p.H222N HAVCR1_uc011ddl.1_Missense_Mutation_p.H53N|HAVCR1_uc003lwi.2_Missense_Mutation_p.H222N|HAVCR1_uc011ddm.1_Missense_Mutation_p.H222N NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 217 Extracellular (Potential). interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTGGTTCATGGTTCTGCCTG 0.488 NA 50 138 4.19e-23 8.66e-23 1 0 NIPAL4 348938 broad.mit.edu 37 5 156899365 156899365 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:156899365G>A uc003lwx.3 + 6 914 c.798G>A c.(796-798)CTG>CTA p.L266L ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Silent_p.L247L NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN ichthyin protein 266 Helical; (Potential). integral to membrane receptor activity 0 CTGTGCTTCTGCTGGTGTCAT 0.507 NA OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 150 0 0 0 0 ADAM19 8728 broad.mit.edu 37 5 156929850 156929850 + Nonsense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:156929850A>T uc003lwz.2 - 12 1333 c.1269T>A c.(1267-1269)TAT>TAA p.Y423* ADAM19_uc003lww.1_Nonsense_Mutation_p.Y156*|ADAM19_uc003lwy.2_Nonsense_Mutation_p.Y22*|ADAM19_uc011ddr.1_Nonsense_Mutation_p.Y354* NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 423 Disintegrin.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATCTTCCAGATACCCGTTCC 0.527 NA 44 107 0 0 0 0 LSM11 134353 broad.mit.edu 37 5 157181901 157181901 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:157181901G>T uc003lxe.1 + 4 716 c.712G>T c.(712-714)GAA>TAA p.E238* LSM11_uc003lxf.1_5'Flank NM_173491 NP_775762 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 238 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTCCAAGAAGGAAGCAGATTC 0.423 NA 22 39 3.1e-05 4.88e-05 1 0 IL12B 3593 broad.mit.edu 37 5 158753716 158753716 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:158753716T>G uc003lxr.1 - 2 117 c.75A>C c.(73-75)GAA>GAC p.E25D NM_002187 NP_002178 P29460 IL12B_HUMAN interleukin 12B precursor 25 Ig-like C2-type. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTTCTTCAGTTCCCATATGG 0.438 NA 33 77 0 0 0 0 ATP10B 23120 broad.mit.edu 37 5 160071164 160071164 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:160071164A>G uc003lym.1 - 9 1696 c.849T>C c.(847-849)GTT>GTC p.V283V ATP10B_uc003lyp.2_Silent_p.V283V|ATP10B_uc011deg.1_Silent_p.V327V|ATP10B_uc003lyo.2_Silent_p.V255V NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 283 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGACAATGCCAACAGCCATCT 0.493 NA 15 63 0 0 0 0 DOCK2 1794 broad.mit.edu 37 5 169188524 169188524 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:169188524C>A uc003maf.2 + 25 2529 c.2449C>A c.(2449-2451)CAA>AAA p.Q817K DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Q309K NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 817 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCCCTCAGCCAACTCCTGTA 0.483 NA 38 117 5.59e-11 1.01e-10 1 0 DOCK2 1794 broad.mit.edu 37 5 169454881 169454881 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:169454881C>T uc003maf.2 + 34 3476 c.3396C>T c.(3394-3396)ATC>ATT p.I1132I DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.I624I NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1132 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAAACGAAATCATCCTGAAGC 0.418 NA 26 63 0 0 0 0 KCNIP1 30820 broad.mit.edu 37 5 170147332 170147332 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:170147332C>A uc003mas.2 + 4 756 c.227C>A c.(226-228)CCC>CAC p.P76H KCNIP1_uc003map.2_Missense_Mutation_p.P74H|KCNIP1_uc003mat.2_Missense_Mutation_p.P65H|KCNIP1_uc010jjp.2_Missense_Mutation_p.P37H|KCNIP1_uc010jjq.2_Missense_Mutation_p.P65H NM_001034837 NP_001030009 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 isoform 1 76 EF-hand 1; degenerate. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGGAGTGCCCCAGTGGTGTG 0.547 NA 9 30 2.18e-05 3.43e-05 1 0 STK10 6793 broad.mit.edu 37 5 171523476 171523476 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:171523476T>A uc003mbo.1 - 8 1259 c.959A>T c.(958-960)GAC>GTC p.D320V NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 320 ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATCCCGGCCGTCTTCGATCTC 0.642 NA 32 81 0 0 0 0 EIF4E1B 253314 broad.mit.edu 37 5 176072481 176072481 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:176072481G>A uc010jkf.1 + 8 1162 c.578G>A c.(577-579)AGG>AAG p.R193K TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.2_5'Flank|TSPAN17_uc003meu.2_5'Flank|TSPAN17_uc003mev.2_5'Flank|TSPAN17_uc003mew.2_5'Flank NM_001099408 NP_001092878 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E 193 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity 0 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGTGGACGAGGGAGGCGGAA 0.622 NA 13 29 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176637567 176637567 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:176637567A>T uc003mfr.3 + 5 2305 c.2167A>T c.(2167-2169)ACC>TCC p.T723S NSD1_uc003mft.3_Missense_Mutation_p.T454S|NSD1_uc003mfs.1_Missense_Mutation_p.T620S|NSD1_uc011dfx.1_Missense_Mutation_p.T371S NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 723 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) AGAGCCTGGAACCGAGACGTC 0.428 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 26 58 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176709538 176709538 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:176709538C>T uc003mfr.3 + 19 6103 c.5965C>T c.(5965-5967)CAA>TAA p.Q1989* NSD1_uc003mft.3_Nonsense_Mutation_p.Q1720*|NSD1_uc011dfx.1_Nonsense_Mutation_p.Q1637* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1989 SET. RYAQEH -> KHAHEN (in Ref. 3; AAK92049). 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) TCGCTATGCTCAAGAACATGA 0.368 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 24 95 0 0 0 0 ZNF354C 30832 broad.mit.edu 37 5 178503532 178503532 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:178503532G>T uc003mju.2 + 3 229 c.114G>T c.(112-114)CGG>CGT p.R38R NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 38 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) CCTTGTACCGGGAGGTGATGC 0.527 NA 24 82 6.36e-07 1.05e-06 1 0 BTNL3 10917 broad.mit.edu 37 5 180424227 180424227 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:180424227C>G uc003mmr.2 + 3 540 c.412C>G c.(412-414)CCT>GCT p.P138A NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 138 Ig-like V-type.|Extracellular (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GGGCTCACTTCCTCTCATTTC 0.498 NA 39 128 0 0 0 0 JARID2 3720 broad.mit.edu 37 6 15452388 15452388 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:15452388A>C uc003nbj.2 + 4 719 c.475A>C c.(475-477)ACC>CCC p.T159P JARID2_uc011diu.1_Intron|JARID2_uc011div.1_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.T121P NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 159 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGATTTTCTTACCTTTCTCTG 0.468 NA 26 85 0 0 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24533787 24533787 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:24533787G>A uc003neg.2 + 10 1483 c.1455G>A c.(1453-1455)CTG>CTA p.L485L ALDH5A1_uc003nef.2_Silent_p.L498L NM_001080 NP_001071 P51649 SSDH_HUMAN aldehyde dehydrogenase 5A1 isoform 2 precursor 485 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity 0 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) CAGAGCAGCTGGAAGTGGGCA 0.493 NA 78 71 0 0 0 0 NKAPL 222698 broad.mit.edu 37 6 28228212 28228212 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:28228212C>T uc003nkt.2 + 1 1115 c.1063C>T c.(1063-1065)CGT>TGT p.R355C ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 355 upper_aerodigestive_tract(1)|ovary(1) 2 TGTACGACTGCGTAAGGAGAA 0.443 NA 27 174 0 0 0 0 OR2J3 442186 broad.mit.edu 37 6 29080330 29080330 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:29080330T>A uc011dll.1 + 1 663 c.663T>A c.(661-663)TAT>TAA p.Y221* NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 221 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCACTTCTTATGGTGCCATCG 0.448 NA 16 137 0 0 0 0 DDR1 780 broad.mit.edu 37 6 30860151 30860151 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:30860151A>G uc003nrr.2 + 9 1190 c.931A>G c.(931-933)ATG>GTG p.M311V DDR1_uc010jse.2_Missense_Mutation_p.M311V|DDR1_uc003nrq.2_Missense_Mutation_p.M311V|DDR1_uc003nrs.2_Missense_Mutation_p.M311V|DDR1_uc003nrt.2_Missense_Mutation_p.M311V|DDR1_uc011dms.1_Missense_Mutation_p.M329V|DDR1_uc003nru.2_Missense_Mutation_p.M311V|DDR1_uc003nrv.2_Missense_Mutation_p.M311V|DDR1_uc003nrw.1_Missense_Mutation_p.M110V|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 311 Extracellular (Potential). cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) TGGCCCTGCCATGGCCTGGGA 0.697 NA 31 36 0 0 0 0 PPT2 9374 broad.mit.edu 37 6 32122555 32122555 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:32122555G>T uc003nzx.2 + 2 751 c.183_splice c.e2+1 p.E61_splice PRRT1_uc003nzs.2_5'Flank|PRRT1_uc003nzt.2_5'Flank|PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Splice_Site_p.E67_splice|PPT2_uc011dpi.1_Splice_Site|PPT2_uc003nzy.1_Splice_Site|PPT2_uc003nzz.2_Splice_Site_p.E61_splice|PPT2_uc003oaa.2_Splice_Site_p.E61_splice|PPT2_uc010jtu.1_Splice_Site_p.E61_splice NM_005155 NP_005146 Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 isoform a protein modification process lysosome palmitoyl-(protein) hydrolase activity 0 CATCAATGAGGTCTGGCAGGG 0.647 NA 32 39 1.89e-17 3.75e-17 1 0 NOTCH4 4855 broad.mit.edu 37 6 32169141 32169141 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:32169141C>T uc003obb.2 - 22 4031 c.3892G>A c.(3892-3894)GCC>ACC p.A1298T NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1298 Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 ACCAGCAGGGCCAGGGAGGGC 0.637 NA 45 25 0 0 0 0 COL11A2 1302 broad.mit.edu 37 6 33146101 33146101 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:33146101C>A uc003ocx.1 - 20 2030 c.1802G>T c.(1801-1803)GGG>GTG p.G601V COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.G515V|COL11A2_uc003ocz.1_Missense_Mutation_p.G494V NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 601 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 TCCAGGCAGCCCTCGAGGCCC 0.617 NA 18 141 4.76e-15 9.21e-15 1 0 RGL2 5863 broad.mit.edu 37 6 33262943 33262943 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:33262943C>T uc003odv.2 - 9 1303 c.1170G>A c.(1168-1170)GAG>GAA p.E390E RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Silent_p.E308E|RGL2_uc011drb.1_Silent_p.E308E NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 390 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 AATTATCCTCCTCGGAGAAAA 0.577 NA 4 23 0 0 0 0 CPNE5 57699 broad.mit.edu 37 6 36766231 36766231 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:36766231C>A uc003omr.1 - 5 394 c.327_splice c.e5+1 p.H109_splice CPNE5_uc003oms.1_Splice_Site_p.H71_splice NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN copine V skin(1) 1 GCAGAACTCACGTGTTTGGAT 0.512 NA 28 28 8.58e-18 1.71e-17 1 0 DNAH8 1769 broad.mit.edu 37 6 38885916 38885916 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:38885916G>A uc003ooe.1 + 68 10473 c.9873G>A c.(9871-9873)AAG>AAA p.K3291K uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TGCCTCTGAAGGTAAAAGTTT 0.373 NA 13 48 0 0 0 0 NCR2 9436 broad.mit.edu 37 6 41304148 41304148 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:41304148T>G uc003oqh.2 + 2 463 c.376T>G c.(376-378)TAT>GAT p.Y126D NCR2_uc003oqi.2_Missense_Mutation_p.Y126D|NCR2_uc003oqj.2_Missense_Mutation_p.Y126D NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 126 Extracellular (Potential). cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) CGTCAGATTCTATCTGGTGGT 0.532 NA 59 31 0 0 0 0 TRERF1 55809 broad.mit.edu 37 6 42236484 42236484 + Missense_Mutation SNP C C A rs147382652 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:42236484C>A uc003osd.2 - 5 1408 c.845G>T c.(844-846)CGT>CTT p.R282L TRERF1_uc011duq.1_Missense_Mutation_p.R282L|TRERF1_uc003osb.2_Missense_Mutation_p.R121L|TRERF1_uc003osc.2_Missense_Mutation_p.R121L|TRERF1_uc003ose.2_Missense_Mutation_p.R282L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 282 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CATGGAGATACGCTGTTGCCC 0.488 NA 91 69 3.78e-48 8.06e-48 1 0 PTCRA 171558 broad.mit.edu 37 6 42890971 42890971 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:42890971T>G uc003osx.2 + 2 346 c.265T>G c.(265-267)TTG>GTG p.L89V PTCRA_uc011duz.1_Silent_p.T99T|PTCRA_uc010jxx.1_Silent_p.T49T|PTCRA_uc010jxy.2_Missense_Mutation_p.L64V|PTCRA_uc010jxz.2_Intron NM_138296 NP_612153 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha precursor 89 Extracellular (Potential). integral to membrane receptor activity ovary(2) 2 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CTGGACCAACTTGGCCCATCT 0.622 NA 29 156 0 0 0 0 CENPQ 55166 broad.mit.edu 37 6 49456174 49456174 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:49456174G>T uc003ozh.1 + 7 676 c.587G>T c.(586-588)AGA>ATA p.R196I NM_018132 NP_060602 Q7L2Z9 CENPQ_HUMAN centromere protein Q 196 Potential. CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm ovary(2) 2 Lung NSC(77;0.0128) GAAGAGGAGAGAGTAAAACAG 0.313 NA 36 35 3.93e-24 8.17e-24 1 0 RHAG 6005 broad.mit.edu 37 6 49578777 49578777 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:49578777G>T uc003ozk.3 - 7 1089 c.1027C>A c.(1027-1029)CTT>ATT p.L343I RHAG_uc010jzl.2_Missense_Mutation_p.L343I|RHAG_uc010jzm.2_Intron NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 343 Helical; (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) ATGCCTGCAAGGCCTCCCACT 0.473 NA 50 48 2.9e-28 6.07e-28 1 0 CRISP2 7180 broad.mit.edu 37 6 49665662 49665662 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:49665662C>A uc003ozq.2 - 8 682 c.426G>T c.(424-426)TGG>TGT p.W142C CRISP2_uc003ozl.2_Missense_Mutation_p.W142C|CRISP2_uc003ozn.2_Missense_Mutation_p.W142C|CRISP2_uc003ozr.2_Missense_Mutation_p.W142C|CRISP2_uc003ozo.2_Missense_Mutation_p.W142C|CRISP2_uc003ozm.2_Missense_Mutation_p.W142C|CRISP2_uc003ozp.2_Missense_Mutation_p.W142C NM_001142408 NP_001135880 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 precursor 142 extracellular space skin(1) 1 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AAGTCGAGTACCAAACAAGCT 0.313 NA 20 128 8.34e-07 1.37e-06 1 0 PKHD1 5314 broad.mit.edu 37 6 51750673 51750673 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:51750673C>A uc003pah.1 - 45 7483 c.7207G>T c.(7207-7209)GGT>TGT p.G2403C PKHD1_uc010jzn.1_Missense_Mutation_p.G386C|PKHD1_uc003pai.2_Missense_Mutation_p.G2403C NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2403 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) ACCTGGGCACCACCTGCACTT 0.353 NA 14 46 1.36e-06 2.23e-06 1 0 PKHD1 5314 broad.mit.edu 37 6 51947209 51947209 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:51947209C>T uc003pah.1 - 4 538 c.262G>A c.(262-264)GTG>ATG p.V88M PKHD1_uc003pai.2_Missense_Mutation_p.V88M NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 88 Extracellular (Potential).|IPT/TIG 1; atypical. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CATGTCACCACAGGCAAATCC 0.488 NA 173 135 0 0 0 0 TINAG 27283 broad.mit.edu 37 6 54173485 54173485 + Missense_Mutation SNP G G T rs147898099 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:54173485G>T uc003pcj.2 + 1 283 c.137G>T c.(136-138)CGA>CTA p.R46L TINAG_uc003pci.2_Missense_Mutation_p.R46L|TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 46 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) CAAGGTACTCGATTCAAAAGA 0.428 NA 33 165 1.46e-13 2.75e-13 1 0 TINAG 27283 broad.mit.edu 37 6 54214631 54214631 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:54214631C>T uc003pcj.2 + 7 1163 c.1017C>T c.(1015-1017)CCC>CCT p.P339P TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 339 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) AGCCATGTCCCAACAACGTAG 0.443 NA 96 60 0 0 0 0 ZNF451 26036 broad.mit.edu 37 6 57006110 57006110 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:57006110A>T uc003pdm.1 + 8 937 c.713A>T c.(712-714)GAT>GTT p.D238V ZNF451_uc003pdl.2_Missense_Mutation_p.D238V|ZNF451_uc003pdn.1_Missense_Mutation_p.D238V|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.D238V NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GAAGCCACAGATGATGGACAT 0.323 NA 6 42 0 0 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62390894 62390894 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:62390894T>C uc003peg.2 - 9 1271 c.1024A>G c.(1024-1026)AGG>GGG p.R342G NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) GGGTGTTCCCTGTATCCCCCT 0.498 NA 17 32 0 0 0 0 COL19A1 1310 broad.mit.edu 37 6 70847590 70847590 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:70847590T>A uc003pfc.1 + 19 1514 c.1397T>A c.(1396-1398)CTA>CAA p.L466Q COL19A1_uc010kam.1_Missense_Mutation_p.L362Q NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 466 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GAAACTGGACTACCAGGATTT 0.408 NA 36 104 0 0 0 0 COL19A1 1310 broad.mit.edu 37 6 70859624 70859624 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:70859624G>T uc003pfc.1 + 28 2039 c.1922G>T c.(1921-1923)GGT>GTT p.G641V COL19A1_uc010kam.1_Missense_Mutation_p.G537V NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 641 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GGAGAGCCAGGTATTCAGGTA 0.383 NA 13 34 0.00244969 0.00356876 1 0 COL12A1 1303 broad.mit.edu 37 6 75893061 75893061 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:75893061C>T uc003phs.2 - 10 1762 c.1596G>A c.(1594-1596)GTG>GTA p.V532V COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Silent_p.V190V NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 532 VWFA 2. 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 CCTTGCTAGGCACAAATATTT 0.393 NA 41 105 0 0 0 0 SNAP91 9892 broad.mit.edu 37 6 84350842 84350842 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:84350842T>C uc011dze.1 - 8 1055 c.738A>G c.(736-738)CGA>CGG p.R246R SNAP91_uc003pkb.2_Silent_p.R211R|SNAP91_uc003pkc.2_Silent_p.R246R|SNAP91_uc003pkd.2_Silent_p.R246R|SNAP91_uc003pka.2_Silent_p.R246R|SNAP91_uc011dzf.1_Silent_p.R127R NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 246 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) ATTCAGACACTCGTGTCATTC 0.279 NA 5 4 0 0 0 0 SNX14 57231 broad.mit.edu 37 6 86223949 86223949 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:86223949C>A uc003pkr.2 - 25 2589 c.2396G>T c.(2395-2397)CGG>CTG p.R799L SNX14_uc003pkp.2_Missense_Mutation_p.R662L|SNX14_uc003pkq.2_Missense_Mutation_p.R405L|SNX14_uc011dzg.1_Missense_Mutation_p.R747L|SNX14_uc003pks.2_Missense_Mutation_p.R746L|SNX14_uc003pkt.2_Missense_Mutation_p.R790L NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 799 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) GAAAACTACCCGTCCTGAGAA 0.378 NA 24 50 3.6e-14 6.85e-14 1 0 HTR1E 3354 broad.mit.edu 37 6 87725582 87725582 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:87725582A>T uc003pli.2 + 2 1233 c.530A>T c.(529-531)CAC>CTC p.H177L NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 177 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ACCATCCAGCACGACCATGTT 0.522 NA 19 69 0 0 0 0 PNRC1 10957 broad.mit.edu 37 6 89790894 89790894 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:89790894C>G uc003pmv.2 + 1 466 c.281C>G c.(280-282)CCG>CGG p.P94R PNRC1_uc003pmu.2_Missense_Mutation_p.P94R|PNRC1_uc003pmx.2_5'Flank NM_006813 NP_006804 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 94 Nuclear localization signal. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 0 all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.102) CGGGCAGCGCCGAAGAAGCGG 0.721 NA Multiple Myeloma(7;0.094) 6 14 0 0 0 0 SIM1 6492 broad.mit.edu 37 6 100838661 100838661 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:100838661T>A uc003pqj.3 - 11 2084 c.1877A>T c.(1876-1878)AAC>ATC p.N626I SIM1_uc010kcu.2_Missense_Mutation_p.N626I NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 626 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TGGTGAAGTGTTGGCAAGAGC 0.493 NA 53 123 0 0 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107069363 107069363 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:107069363C>T uc003prj.2 - 3 909 c.432G>A c.(430-432)TGG>TGA p.W144* RTN4IP1_uc010kdd.2_Nonsense_Mutation_p.W144*|RTN4IP1_uc003prk.2_Nonsense_Mutation_p.W44* NM_032730 NP_116119 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 precursor 144 mitochondrion oxidoreductase activity|zinc ion binding 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) GAACTGCAGCCCAGACCTGAA 0.418 NA 26 95 0 0 0 0 KIAA1919 91749 broad.mit.edu 37 6 111587866 111587866 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:111587866G>T uc003puv.3 + 4 1523 c.1101G>T c.(1099-1101)ATG>ATT p.M367I NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 367 Helical; (Potential). carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(3) 3 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) TGGGAGAAATGGCTATTCCTG 0.423 NA 34 97 1.31e-24 2.73e-24 1 0 C6orf174 387104 broad.mit.edu 37 6 127836029 127836029 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:127836029C>A uc003qbd.2 - 3 2130 c.1265G>T c.(1264-1266)CGC>CTC p.R422L NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 422 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CTGGGCGTAGCGGAGCCTTTT 0.657 NA 23 63 3.01e-09 5.26e-09 1 0 SAMD3 154075 broad.mit.edu 37 6 130535481 130535481 + Splice_Site SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:130535481C>T uc003qbv.2 - 5 595 c.269_splice c.e5+1 p.D90_splice SAMD3_uc003qbx.2_Splice_Site_p.D90_splice|SAMD3_uc003qbw.2_Splice_Site_p.D90_splice|SAMD3_uc010kfg.1_Splice_Site_p.D90_splice|SAMD3_uc003qby.2_Splice_Site_p.D90_splice|SAMD3_uc003qbz.1_Splice_Site_p.D49_splice NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) AACATACTCACTCTCGAGCTG 0.433 NA 25 68 0 0 0 0 SAMD3 154075 broad.mit.edu 37 6 130536394 130536394 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:130536394C>G uc003qbv.2 - 4 351 c.25G>C c.(25-27)GTC>CTC p.V9L SAMD3_uc003qbx.2_Missense_Mutation_p.V9L|SAMD3_uc003qbw.2_Missense_Mutation_p.V9L|SAMD3_uc010kfg.1_Missense_Mutation_p.V9L|SAMD3_uc003qby.2_Missense_Mutation_p.V9L|SAMD3_uc003qbz.1_5'UTR NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 9 SAM. ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CAACTGCAGACCTGCTCAACT 0.398 NA 10 41 0 0 0 0 ENPP1 5167 broad.mit.edu 37 6 132172336 132172336 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:132172336G>T uc011ecf.1 + 4 505 c.485G>T c.(484-486)AGC>ATC p.S162I NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 162 Extracellular (Potential).|SMB 2. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TTGACCAGAAGCCTCTGTGCC 0.458 NA 32 61 2.42e-17 4.8e-17 1 0 STX7 8417 broad.mit.edu 37 6 132824653 132824653 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:132824653C>A uc003qdg.2 - 2 267 c.17G>T c.(16-18)GGA>GTA p.G6V STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Missense_Mutation_p.G6V NM_003569 NP_003560 O15400 STX7_HUMAN syntaxin 7 6 Cytoplasmic (Potential). intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity 0 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) ACCACCAACTCCTGGAGTGTA 0.413 NA 31 72 4.11e-13 7.7e-13 1 0 VNN2 8875 broad.mit.edu 37 6 133072643 133072643 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:133072643C>G uc003qdt.2 - 5 852 c.841G>C c.(841-843)GCA>CCA p.A281P VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Missense_Mutation_p.A228P NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 281 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CCATTTGGTGCATAAATACCA 0.413 NA 23 45 0 0 0 0 C6orf192 116843 broad.mit.edu 37 6 133110904 133110904 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:133110904C>G uc003qdw.1 - 4 504 c.352G>C c.(352-354)GGT>CGT p.G118R C6orf192_uc011eco.1_Missense_Mutation_p.W41S NM_052831 NP_439896 Q6NT16 CF192_HUMAN hypothetical protein LOC116843 118 Helical; (Potential). transmembrane transport integral to membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265) ATGACTTACCCAAAGAGAATT 0.308 NA 26 72 0 0 0 0 KIAA1244 57221 broad.mit.edu 37 6 138576847 138576847 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:138576847C>A uc003qhu.2 + 10 1045 c.1045C>A c.(1045-1047)CGA>AGA p.R349R NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 349 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CCTCTACCACCGAGTGCTGCT 0.602 NA 6 14 0.00116845 0.00172167 1 0 ECT2L 345930 broad.mit.edu 37 6 139170518 139170518 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:139170518A>C uc003qif.1 + 7 1119 c.1016A>C c.(1015-1017)CAG>CCG p.Q339P ECT2L_uc011edq.1_Missense_Mutation_p.Q270P NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 339 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 CAGAAGGCACAGAGCATCGGA 0.468 NA 21 62 0 0 0 0 PLAGL1 5325 broad.mit.edu 37 6 144263314 144263314 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:144263314T>C uc003qjv.2 - 3 1905 c.639A>G c.(637-639)AAA>AAG p.K213K PLAGL1_uc003qjx.2_Silent_p.K213K|PLAGL1_uc003qjy.2_Silent_p.K213K|PLAGL1_uc010khl.2_Silent_p.K213K|PLAGL1_uc010khm.2_Silent_p.K213K|PLAGL1_uc003qjz.2_Silent_p.K213K|PLAGL1_uc003qka.2_Silent_p.K213K|PLAGL1_uc003qkb.2_Silent_p.K161K|PLAGL1_uc003qkc.2_Silent_p.K213K|PLAGL1_uc003qkd.2_Silent_p.K161K|PLAGL1_uc003qke.2_Silent_p.K213K|PLAGL1_uc003qkf.2_Silent_p.K213K|PLAGL1_uc003qkg.2_Silent_p.K161K|PLAGL1_uc003qkh.2_Silent_p.K213K|PLAGL1_uc003qki.2_Silent_p.K161K|PLAGL1_uc003qkj.2_Silent_p.K213K|PLAGL1_uc003qkk.2_Silent_p.K161K|PLAGL1_uc003qkl.2_Silent_p.K161K|PLAGL1_uc003qkm.2_Silent_p.K213K|PLAGL1_uc010khn.2_Silent_p.K213K|PLAGL1_uc003qkn.2_Silent_p.K161K|PLAGL1_uc003qko.2_Silent_p.K213K|PLAGL1_uc003qkp.2_Silent_p.K161K|PLAGL1_uc003qjw.2_Silent_p.K161K NM_002656 NP_002647 Q9UM63 PLAL1_HUMAN pleiomorphic adenoma gene-like 1 isoform 1 213 cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885) GCAAGCTCTCTTTCATCAGCT 0.547 NA OREG0017707 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 107 0 0 0 0 PCMT1 5110 broad.mit.edu 37 6 150094294 150094294 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:150094294G>T uc003qne.2 + 3 388 c.355G>T c.(355-357)GCT>TCT p.A119S PCMT1_uc003qna.2_Missense_Mutation_p.A119S|PCMT1_uc003qnb.2_Missense_Mutation_p.A119S|PCMT1_uc011eeg.1_Missense_Mutation_p.A84S|PCMT1_uc003qnc.2_5'UTR|PCMT1_uc003qnd.2_Missense_Mutation_p.A119S|PCMT1_uc003qnf.2_Missense_Mutation_p.A119S NM_005389 NP_005380 protein-L-isoaspartate (D-aspartate) ovary(1) 1 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.221) OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207) AACAATCAGTGCTCCACACAT 0.303 NA 20 45 6.21e-17 1.23e-16 1 0 AKAP12 9590 broad.mit.edu 37 6 151670376 151670376 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:151670376C>A uc011eep.1 + 4 1090 c.850C>A c.(850-852)CCG>ACG p.P284T AKAP12_uc003qoe.2_Missense_Mutation_p.P284T|AKAP12_uc003qof.2_Missense_Mutation_p.P186T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.P179T NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 284 Involved in PKC-binding (Probable). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) TGCAGAATCTCCGACTAGTCC 0.483 NA 16 33 2.32e-05 3.65e-05 1 0 AKAP12 9590 broad.mit.edu 37 6 151673277 151673277 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:151673277T>A uc011eep.1 + 4 3991 c.3751T>A c.(3751-3753)TCA>ACA p.S1251T AKAP12_uc003qoe.2_Missense_Mutation_p.S1251T|AKAP12_uc003qof.2_Missense_Mutation_p.S1153T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.S1146T NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 1251 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) TAAAGAGGTGTCAGTGGAAAC 0.438 NA 11 30 0 0 0 0 ESR1 2099 broad.mit.edu 37 6 152382208 152382208 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:152382208C>T uc003qom.3 + 8 1688 c.1318C>T c.(1318-1320)CTG>TTG p.L440L ESR1_uc010kin.2_Silent_p.L440L|ESR1_uc010kio.2_Silent_p.L442L|ESR1_uc010kip.2_Silent_p.L439L|ESR1_uc003qon.3_Silent_p.L440L|ESR1_uc003qoo.3_Silent_p.L440L|ESR1_uc010kiq.2_Silent_p.L38L|ESR1_uc010kir.2_Silent_p.L179L|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Silent_p.L109L|ESR1_uc011eex.1_Intron|ESR1_uc010kit.1_3'UTR|ESR1_uc011eey.1_Silent_p.L177L NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 440 Steroid-binding.|Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CATGATGAATCTGCAGGGAGA 0.413 NA 13 15 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152529267 152529267 + Missense_Mutation SNP C C A rs149366576 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:152529267C>A uc010kiw.2 - 125 23266 c.22664G>T c.(22663-22665)CGG>CTG p.R7555L SYNE1_uc010kiv.2_Missense_Mutation_p.R2079L|SYNE1_uc003qos.3_Missense_Mutation_p.R2079L|SYNE1_uc003qot.3_Missense_Mutation_p.R7484L|SYNE1_uc003qou.3_Missense_Mutation_p.R7555L|SYNE1_uc003qor.3_Missense_Mutation_p.R455L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7555 HAT 11.|Cytoplasmic (Potential).|Spectrin 25. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AATGATCCCCCGCCTCTGCTG 0.488 NA HNSCC(10;0.0054) 30 53 2.61e-14 4.98e-14 1 0 SYNE1 23345 broad.mit.edu 37 6 152725381 152725381 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:152725381T>G uc010kiw.2 - 46 7394 c.6792A>C c.(6790-6792)TTA>TTC p.L2264F SYNE1_uc003qot.3_Missense_Mutation_p.L2271F|SYNE1_uc003qou.3_Missense_Mutation_p.L2264F|SYNE1_uc010kjb.1_Missense_Mutation_p.L2247F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2264 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GATTTTTAGTTAATTCTTTCA 0.328 NA HNSCC(10;0.0054) 40 63 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152831418 152831418 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:152831418G>A uc010kiw.2 - 8 1093 c.491C>T c.(490-492)CCC>CTC p.P164L SYNE1_uc003qot.3_Missense_Mutation_p.P171L|SYNE1_uc003qou.3_Missense_Mutation_p.P164L|SYNE1_uc010kjb.1_Missense_Mutation_p.P164L|SYNE1_uc003qpa.1_Missense_Mutation_p.P164L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 164 Actin-binding.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGTGGGCTGGGAGTCTCAGA 0.493 NA HNSCC(10;0.0054) 25 66 0 0 0 0 CNKSR3 154043 broad.mit.edu 37 6 154762449 154762449 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:154762449C>G uc003qpy.2 - 4 989 c.484G>C c.(484-486)GAC>CAC p.D162H NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 162 CRIC. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) GTGGTCAGGTCCAAGCAAAGC 0.368 NA 35 76 0 0 0 0 SERAC1 84947 broad.mit.edu 37 6 158569896 158569896 + Splice_Site SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:158569896C>G uc003qrc.2 - 5 497 c.355_splice c.e5+1 p.D119_splice SERAC1_uc003qrb.2_Splice_Site NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN serine active site containing 1 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds 0 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) TGGATATTTACCAGCAAATGG 0.338 NA 9 29 0 0 0 0 T 6862 broad.mit.edu 37 6 166571922 166571922 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:166571922C>A uc003quu.1 - 9 1682 c.1189G>T c.(1189-1191)GGA>TGA p.G397* T_uc003qut.1_Nonsense_Mutation_p.G398*|T_uc003quv.1_Nonsense_Mutation_p.G339* NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 397 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) AGTGGGGATCCCGAGGAAGAG 0.692 NA Chordoma_Familial_Clustering_of 21 69 9.96e-16 1.94e-15 1 0 KIF25 3834 broad.mit.edu 37 6 168434642 168434642 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:168434642G>A uc003qwk.1 + 4 510 c.248G>A c.(247-249)GGC>GAC p.G83D KIF25_uc003qwl.1_Missense_Mutation_p.G83D NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 83 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TCGGACGACGGCCCTGTTCTG 0.527 NA 17 39 0 0 0 0 SDK1 221935 broad.mit.edu 37 7 4091359 4091359 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:4091359G>C uc003smx.2 + 19 2947 c.2808G>C c.(2806-2808)ACG>ACC p.T936T SDK1_uc010kso.2_Silent_p.T212T NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 936 Fibronectin type-III 3. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GACACATAACGAACCTGAAGA 0.577 NA 40 83 0 0 0 0 KIAA0415 9907 broad.mit.edu 37 7 4830976 4830976 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:4830976G>T uc003sne.2 + 17 2467 c.2384G>T c.(2383-2385)AGC>ATC p.S795I KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.S272I NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 795 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) CGCACGGTCAGCCGGCTGGTG 0.672 NA 8 7 1.13e-05 1.8e-05 1 0 USP42 84132 broad.mit.edu 37 7 6189425 6189425 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:6189425G>T uc011jwo.1 + 13 1721 c.1598G>T c.(1597-1599)CGC>CTC p.R533L USP42_uc010kth.1_Missense_Mutation_p.R466L|USP42_uc011jwp.1_Missense_Mutation_p.R533L|USP42_uc011jwq.1_Missense_Mutation_p.R340L|USP42_uc011jwr.1_Missense_Mutation_p.R378L NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 533 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TTGCCTGTTCGCCAGTGTCAG 0.428 NA 21 49 8.34e-07 1.37e-06 1 0 C1GALT1 56913 broad.mit.edu 37 7 7278538 7278538 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:7278538T>A uc010ktn.2 + 3 1096 c.873T>A c.(871-873)TAT>TAA p.Y291* C1GALT1_uc003sra.2_Nonsense_Mutation_p.Y291*|C1GALT1_uc010kto.1_Nonsense_Mutation_p.Y291* NM_020156 NP_064541 Q9NS00 C1GLT_HUMAN core 1 synthase, 291 Lumenal (Potential). angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) ATTACAACTATTATCCTCCTG 0.313 NA 10 26 0 0 0 0 ARL4A 10124 broad.mit.edu 37 7 12728069 12728069 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:12728069G>C uc003ssp.2 + 2 467 c.190G>C c.(190-192)GGA>CGA p.G64R ARL4A_uc003ssq.2_Missense_Mutation_p.G64R|ARL4A_uc003ssr.2_Missense_Mutation_p.G64R|ARL4A_uc003sss.2_Missense_Mutation_p.G64R NM_001037164 NP_001032241 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 64 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) GGTAACCTTGGGAAATTCTAA 0.398 NA 12 48 0 0 0 0 HOXA7 3204 broad.mit.edu 37 7 27196162 27196162 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:27196162C>T uc003sys.2 - 1 135 c.3G>A c.(1-3)ATG>ATA p.M1I NM_006896 NP_008827 P31268 HXA7_HUMAN homeobox A7 1 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding 0 ACGAAGAACTCATAATTTTGA 0.443 NA 30 97 0 0 0 0 CCDC129 223075 broad.mit.edu 37 7 31682573 31682573 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:31682573G>A uc003tcj.1 + 11 2582 c.1589G>A c.(1588-1590)AGG>AAG p.R530K CCDC129_uc011kad.1_Missense_Mutation_p.R540K|CCDC129_uc003tci.1_Missense_Mutation_p.R381K|CCDC129_uc011kae.1_Missense_Mutation_p.R556K|CCDC129_uc003tck.1_Missense_Mutation_p.R438K NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 530 0 ACCACCACGAGGGGAGAATGC 0.547 NA 56 125 0 0 0 0 PDE1C 5137 broad.mit.edu 37 7 31890356 31890356 + Splice_Site SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:31890356C>G uc003tcm.1 - 8 1220 c.751_splice c.e8-1 p.N251_splice PDE1C_uc003tcn.1_Splice_Site_p.N251_splice|PDE1C_uc003tco.1_Splice_Site_p.N311_splice|PDE1C_uc003tcr.2_Splice_Site_p.N251_splice|PDE1C_uc003tcs.2_Splice_Site_p.N251_splice NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TCAGCCAGTTCTGAAAGGAGA 0.468 NA 17 44 0 0 0 0 PDE1C 5137 broad.mit.edu 37 7 31917614 31917614 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:31917614C>G uc003tcm.1 - 5 930 c.461G>C c.(460-462)AGC>ACC p.S154T PDE1C_uc003tcn.1_Missense_Mutation_p.S154T|PDE1C_uc003tco.1_Missense_Mutation_p.S214T|PDE1C_uc003tcr.2_Missense_Mutation_p.S154T|PDE1C_uc003tcs.2_Missense_Mutation_p.S154T NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 154 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TGGTGGATAGCTCAGTCCAAC 0.338 NA 6 28 0 0 0 0 AVL9 23080 broad.mit.edu 37 7 32590986 32590986 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:32590986C>T uc003tcv.1 + 5 559 c.413C>T c.(412-414)ACA>ATA p.T138I AVL9_uc011kai.1_Missense_Mutation_p.T138I|AVL9_uc010kwj.1_5'UTR NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 138 integral to membrane 0 CAACTCATTACACATGCATAT 0.308 NA 16 102 0 0 0 0 HERPUD2 64224 broad.mit.edu 37 7 35673920 35673920 + Splice_Site SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:35673920A>G uc003tet.2 - 7 1864 c.1059_splice c.e7+1 p.M353_splice HERPUD2_uc003tes.3_Splice_Site_p.M353_splice NM_022373 NP_071768 Q9BSE4 HERP2_HUMAN HERPUD family member 2 response to unfolded protein integral to membrane ovary(3) 3 TCAATCACATACCATTTCTTC 0.393 NA 12 34 0 0 0 0 TXNDC3 51314 broad.mit.edu 37 7 37903047 37903047 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:37903047C>A uc003tfn.2 + 8 809 c.437C>A c.(436-438)TCA>TAA p.S146* NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 146 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 AGTGAAGAATCACCATGTGAA 0.348 NA Kartagener_syndrome 20 59 2.94e-08 5.05e-08 1 0 TXNDC3 51314 broad.mit.edu 37 7 37934211 37934211 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:37934211G>C uc003tfn.2 + 16 1915 c.1543G>C c.(1543-1545)GTG>CTG p.V515L NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 515 NDK 3. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 AATGTTATCTGTGTAAGTTTC 0.204 NA Kartagener_syndrome 5 13 0 0 0 0 SFRP4 6424 broad.mit.edu 37 7 37951857 37951858 + Missense_Mutation DNP CC CC AG TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:37951857_37951858CC>AG uc003tfo.3 - 4 1040_1041 c.654_655GG>CT c.(652-657)GTGGAT>GTCTAT p.D219Y NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 219 NTR. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 TCTTTTACATCCACCACCGTTG 0.431 NA 18 47 0 0 0 0 C7orf10 79783 broad.mit.edu 37 7 40234623 40234623 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:40234623G>C uc003thn.1 + 6 493 c.448G>C c.(448-450)GAG>CAG p.E150Q C7orf10_uc003thm.1_Intron|C7orf10_uc003tho.1_Missense_Mutation_p.E150Q NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 157 transferase activity ovary(2) 2 AGATATAGACGAGATTGCTCC 0.428 NA 44 138 0 0 0 0 C7orf10 79783 broad.mit.edu 37 7 40498771 40498771 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:40498771A>G uc003thn.1 + 11 1005 c.960A>G c.(958-960)AAA>AAG p.K320K C7orf10_uc003thm.1_Silent_p.K290K|C7orf10_uc003tho.1_Silent_p.K272K NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 327 transferase activity ovary(2) 2 ACAATAGAAAAGAGCTTATTA 0.279 NA 7 31 0 0 0 0 GLI3 2737 broad.mit.edu 37 7 42005670 42005670 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:42005670C>A uc011kbh.1 - 15 3092 c.3001G>T c.(3001-3003)GGC>TGC p.G1001C GLI3_uc011kbg.1_Missense_Mutation_p.G942C NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1001 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CTCCTCACGCCGTGGCCCGGC 0.756 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 8 10 0.000274275 0.000411185 1 0 TNS3 64759 broad.mit.edu 37 7 47408665 47408665 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:47408665G>T uc003tnv.2 - 17 1945 c.1578C>A c.(1576-1578)GGC>GGA p.G526G TNS3_uc003tnw.2_Silent_p.G526G NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 526 focal adhesion protein binding ovary(4) 4 CAACGTTGCTGCCAAAACCGT 0.627 NA 21 30 1.26e-06 2.08e-06 1 0 TNS3 64759 broad.mit.edu 37 7 47474985 47474985 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:47474985C>T uc003tnv.2 - 8 586 c.219G>A c.(217-219)TGG>TGA p.W73* TNS3_uc003tnw.2_Nonsense_Mutation_p.W73*|TNS3_uc010kyo.1_Nonsense_Mutation_p.W73* NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 73 Phosphatase tensin-type. focal adhesion protein binding ovary(4) 4 GGAGCTCTGGCCAGCCCACAT 0.517 NA 25 81 0 0 0 0 C7orf57 136288 broad.mit.edu 37 7 48080958 48080958 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:48080958G>T uc003toh.3 + 3 295 c.83G>T c.(82-84)CGC>CTC p.R28L C7orf57_uc003toi.3_5'UTR NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 28 ovary(1) 1 CCAGTGAAGCGCTCTGAGAAG 0.582 NA 10 43 2.81e-09 4.9e-09 1 0 ABCA13 154664 broad.mit.edu 37 7 48443395 48443395 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:48443395G>T uc003toq.2 + 39 12014 c.11989G>T c.(11989-11991)GTG>TTG p.V3997L ABCA13_uc010kys.1_Missense_Mutation_p.V1071L|ABCA13_uc003tos.1_Missense_Mutation_p.V823L|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3997 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GTCGAGGACCGTGGTTCTGGA 0.572 NA 9 25 1.77e-08 3.04e-08 1 0 ABCA13 154664 broad.mit.edu 37 7 48619833 48619833 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:48619833C>A uc003toq.2 + 56 14393 c.14368C>A c.(14368-14370)CTG>ATG p.L4790M ABCA13_uc010kys.1_Missense_Mutation_p.L1865M|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L520M NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4790 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CGCCGTGGACCTGTCTTCTGC 0.522 NA 4 8 2.77e-08 4.76e-08 1 0 ZPBP 11055 broad.mit.edu 37 7 50070687 50070687 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:50070687C>A uc003tou.2 - 5 776 c.706_splice c.e5+1 p.V236_splice ZPBP_uc011kci.1_Splice_Site_p.V162_splice|ZPBP_uc010kyw.2_Splice_Site_p.V235_splice NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TATAGACTTACCTGAAAATGC 0.299 NA 4 52 0.000602214 0.000897232 1 0 COBL 23242 broad.mit.edu 37 7 51261227 51261227 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:51261227T>A uc003tpr.3 - 3 490 c.305A>T c.(304-306)CAC>CTC p.H102L COBL_uc003tps.2_Missense_Mutation_p.H102L|COBL_uc011kcl.1_Missense_Mutation_p.H102L|COBL_uc010kzc.2_Missense_Mutation_p.H102L|COBL_uc003tpt.2_Missense_Mutation_p.H102L|COBL_uc003tpp.3_5'Flank|COBL_uc003tpq.3_Missense_Mutation_p.H18L NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 102 skin(3)|ovary(2) 5 Glioma(55;0.08) AAGGGCATGGTGGGATGGATT 0.413 NA 10 45 0 0 0 0 ZNF479 90827 broad.mit.edu 37 7 57188157 57188157 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:57188157T>G uc010kzo.2 - 5 1236 c.965A>C c.(964-966)GAG>GCG p.E322A NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) GCAGGGTTTCTCTCCAGTATG 0.443 NA 15 37 0 0 0 0 ZNF716 441234 broad.mit.edu 37 7 57529257 57529257 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:57529257T>C uc011kdi.1 + 4 1202 c.1090T>C c.(1090-1092)TCC>CCC p.S364P NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 CTTTACCTTCTCCTCAACTCT 0.403 NA 8 22 0 0 0 0 ZNF107 51427 broad.mit.edu 37 7 64166767 64166767 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:64166767G>T uc003ttd.2 + 7 871 c.85G>T c.(85-87)GTG>TTG p.V29L ZNF107_uc003tte.2_Missense_Mutation_p.V29L NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) TTTCCAGAAAGTGACACTGAG 0.358 NA 14 17 1.58e-08 2.73e-08 1 0 ZNF92 168374 broad.mit.edu 37 7 64863788 64863788 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:64863788A>G uc003ttz.2 + 4 904 c.761A>G c.(760-762)GAG>GGG p.E254G ZNF92_uc003tua.2_Missense_Mutation_p.E185G|ZNF92_uc010kzu.2_Missense_Mutation_p.E222G|ZNF92_uc003tub.2_Missense_Mutation_p.E178G NM_152626 NP_689839 Q03936 ZNF92_HUMAN zinc finger protein 92 isoform 2 254 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(55;0.159) CATACTGGAGAGAAACCCTAC 0.348 NA 27 36 0 0 0 0 WBSCR17 64409 broad.mit.edu 37 7 71036356 71036356 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:71036356A>G uc003tvy.2 + 6 1049 c.1049A>G c.(1048-1050)TAC>TGC p.Y350C WBSCR17_uc003tvz.2_Missense_Mutation_p.Y49C NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 350 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ATGGATGTATACGGAGGAGAA 0.512 NA 29 76 0 0 0 0 WBSCR28 135886 broad.mit.edu 37 7 73279506 73279506 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:73279506G>T uc003tzk.2 + 2 292 c.256G>T c.(256-258)GTC>TTC p.V86F RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR NM_182504 NP_872310 Q6UE05 WBS28_HUMAN hypothetical protein LOC135886 86 Helical; (Potential). integral to membrane breast(1) 1 Lung NSC(55;0.159) TCTGATACAGGTCCCCGTATG 0.692 NA 34 75 4.03e-09 7.03e-09 1 0 GTF2IRD1 9569 broad.mit.edu 37 7 73969543 73969543 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:73969543G>T uc003uaq.2 + 18 2349 c.1956G>T c.(1954-1956)ATG>ATT p.M652I GTF2IRD1_uc010lbq.2_Missense_Mutation_p.M684I|GTF2IRD1_uc003uap.2_Silent_p.V652V|GTF2IRD1_uc003uar.1_Missense_Mutation_p.M652I NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 652 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 AGCCCATCATGGATAGTCAAG 0.637 NA 23 57 2.89e-11 5.25e-11 1 0 PCLO 27445 broad.mit.edu 37 7 82451863 82451863 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:82451863C>A uc003uhx.2 - 20 15028 c.14739G>T c.(14737-14739)GGG>GGT p.G4913G PCLO_uc003uhv.2_Silent_p.G4913G|PCLO_uc003uht.1_Silent_p.G355G|PCLO_uc003uhu.1_Silent_p.G334G NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4775 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTATGGCAGCCCCTGCATCTT 0.498 NA 71 176 3.31e-33 7e-33 1 0 ABCB1 5243 broad.mit.edu 37 7 87160614 87160614 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:87160614C>G uc003uiz.1 - 22 3099 c.2681G>C c.(2680-2682)GGG>GCG p.G894A ABCB1_uc011khc.1_Missense_Mutation_p.G830A NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 894 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ACTCACCTTCCCAGAACCTTC 0.343 NA 23 36 0 0 0 0 PEX1 5189 broad.mit.edu 37 7 92134134 92134134 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:92134134C>A uc003uly.2 - 12 2079 c.1983G>T c.(1981-1983)CTG>CTT p.L661L PEX1_uc011khr.1_Silent_p.L453L|PEX1_uc010ley.2_Intron|PEX1_uc011khs.1_Silent_p.L339L|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 661 Missing (in NALD). microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CAAGGTCATCCAGCAGGACAA 0.502 NA 30 84 3.58e-08 6.12e-08 1 0 PON1 5444 broad.mit.edu 37 7 94944746 94944746 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:94944746A>G uc003uns.2 - 4 355 c.258T>C c.(256-258)CTT>CTC p.L86L PON1_uc011kih.1_Silent_p.L86L NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 86 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GGTCCATCAGAAGTATTTTTC 0.388 NA 20 55 0 0 0 0 ZNF789 285989 broad.mit.edu 37 7 99084446 99084446 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:99084446G>C uc003uqq.1 + 5 832 c.613G>C c.(613-615)GAA>CAA p.E205Q ZNF789_uc010lfw.1_Missense_Mutation_p.E110Q|ZNF789_uc003uqr.1_Missense_Mutation_p.E147Q NM_213603 NP_998768 Q5FWF6 ZN789_HUMAN zinc finger protein 789 isoform 1 205 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TGAATGCAGTGAATGTGGAAA 0.418 NA 34 55 0 0 0 0 ZNF394 84124 broad.mit.edu 37 7 99097390 99097390 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:99097390C>T uc003uqs.2 - 1 488 c.327G>A c.(325-327)CTG>CTA p.L109L ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Silent_p.L109L NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 109 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGAACTGCTCCAGCACCAGCA 0.672 NA 5 134 0 0 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99124011 99124011 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:99124011A>C uc003uqv.2 + 6 1472 c.1348A>C c.(1348-1350)AAA>CAA p.K450Q ZKSCAN5_uc010lfx.2_Missense_Mutation_p.K450Q|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.K450Q|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.K377Q|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.K186Q NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 450 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CGAACACCTAAAACGCCACTT 0.502 NA 79 190 0 0 0 0 ZNF655 79027 broad.mit.edu 37 7 99170651 99170651 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:99170651G>C uc003urh.2 + 3 1313 c.920G>C c.(919-921)AGT>ACT p.S307T ZNF655_uc010lga.2_Missense_Mutation_p.S342T|ZNF655_uc010lgc.2_Missense_Mutation_p.S342T|ZNF655_uc003urj.2_Missense_Mutation_p.S307T|ZNF655_uc003urk.2_Missense_Mutation_p.S144T|ZNF655_uc010lgd.2_Missense_Mutation_p.S144T NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 307 C2H2-type 3. G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AAATGTAGCAGTTGTGAAAGA 0.413 NA 20 52 0 0 0 0 TFR2 7036 broad.mit.edu 37 7 100225246 100225246 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:100225246A>T uc003uvv.1 - 15 1762 c.1721T>A c.(1720-1722)TTC>TAC p.F574Y TFR2_uc010lhc.1_Missense_Mutation_p.F115Y|TFR2_uc003uvu.1_Missense_Mutation_p.F403Y NM_003227 NP_003218 Q9UP52 TFR2_HUMAN transferrin receptor 2 574 Extracellular (Potential). cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity ovary(1)|pancreas(1) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AAAGGCCGTGAAGGAATAGGC 0.632 NA 9 39 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100676773 100676773 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:100676773T>C uc003uxp.1 + 3 2129 c.2076T>C c.(2074-2076)AGT>AGC p.S692S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 692 Extracellular (Potential).|9.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CATTAACAAGTATGCCTGTCA 0.493 NA 213 468 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103292197 103292197 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:103292197C>G uc003vca.2 - 15 1963 c.1803G>C c.(1801-1803)TGG>TGC p.W601C RELN_uc010liz.2_Missense_Mutation_p.W601C NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 601 BNR 1. 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) GAAGGAGGGACCAGGAGCGCC 0.478 NA 14 32 0 0 0 0 RINT1 60561 broad.mit.edu 37 7 105204333 105204334 + Missense_Mutation DNP CG CG TA TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:105204333_105204334CG>TA uc003vda.1 + 12 2056_2057 c.1825_1826CG>TA c.(1825-1827)CGT>TAT p.R609Y RINT1_uc010ljj.1_Missense_Mutation_p.R184Y NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 609 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding ovary(3)|central_nervous_system(1) 4 TATGTTGACCCGTCAAGTAGAC 0.386 NA 12 43 0 0 0 0 LAMB4 22798 broad.mit.edu 37 7 107746424 107746424 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:107746424A>G uc010ljo.1 - 8 792 c.708T>C c.(706-708)CTT>CTC p.L236L LAMB4_uc003vey.2_Silent_p.L236L NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 236 Laminin N-terminal. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 AAGCATCCCCAAGGGTGTGGA 0.418 NA 16 42 0 0 0 0 LRRN3 54674 broad.mit.edu 37 7 110762957 110762957 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:110762957C>A uc003vft.3 + 4 1175 c.129C>A c.(127-129)CCC>CCA p.P43P IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.P43P|LRRN3_uc003vfs.3_Silent_p.P43P NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 43 Extracellular (Potential).|LRRNT. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GGTTTACACCCAGATCCATTT 0.413 NA 27 80 1.26e-06 2.08e-06 1 0 DOCK4 9732 broad.mit.edu 37 7 111540519 111540519 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:111540519C>A uc003vfx.2 - 15 1660 c.1391G>T c.(1390-1392)AGT>ATT p.S464I DOCK4_uc003vfy.2_Missense_Mutation_p.S464I|DOCK4_uc003vga.1_Missense_Mutation_p.S69I NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 464 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CCACCTGGGACTGTTGTTATG 0.488 NA 7 18 0.00621372 0.00888377 1 0 ASZ1 136991 broad.mit.edu 37 7 117023080 117023080 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:117023080A>T uc003vjb.2 - 7 835 c.772T>A c.(772-774)TTG>ATG p.L258M ASZ1_uc011kno.1_Missense_Mutation_p.L258M|ASZ1_uc011knp.1_Missense_Mutation_p.L50M NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 258 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TCTGTTGTCAATATTTTACAA 0.259 NA 12 46 0 0 0 0 CFTR 1080 broad.mit.edu 37 7 117246788 117246788 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:117246788C>A uc003vjd.2 + 18 3101 c.2969C>A c.(2968-2970)ACC>AAC p.T990N CFTR_uc011knq.1_Missense_Mutation_p.T396N NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 990 Cytoplasmic (Potential).|ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CTGCCTCTTACCATATTTGAC 0.289 NA Cystic_Fibrosis 23 89 3.29e-13 6.16e-13 1 0 HYAL4 23553 broad.mit.edu 37 7 123508735 123508735 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:123508735A>G uc003vlc.2 + 3 1046 c.408A>G c.(406-408)GAA>GAG p.E136E HYAL4_uc011knz.1_Silent_p.E136E NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 136 Extracellular (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 TCCCTGCTGAAGATTTCAGTG 0.428 NA 19 63 0 0 0 0 GCC1 79571 broad.mit.edu 37 7 127223058 127223058 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:127223058C>T uc003vma.2 - 2 1756 c.1338G>A c.(1336-1338)GCG>GCA p.A446A NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 446 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 TTTTCCTGGCCGCAACCTGCA 0.557 NA 45 132 0 0 0 0 DGKI 9162 broad.mit.edu 37 7 137237200 137237200 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:137237200G>T uc003vtt.2 - 20 2063 c.2062C>A c.(2062-2064)CCA>ACA p.P688T DGKI_uc003vtu.2_Missense_Mutation_p.P388T NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 688 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 ATCATAGCTGGGGCCAACCTA 0.517 NA 40 98 6.05e-29 1.27e-28 1 0 DGKI 9162 broad.mit.edu 37 7 137271843 137271843 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:137271843C>A uc003vtt.2 - 13 1426 c.1425G>T c.(1423-1425)GGG>GGT p.G475G DGKI_uc003vtu.2_Silent_p.G175G NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 475 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CAGTTCTTACCCCTCCCCAGT 0.552 NA 18 54 5.39e-06 8.68e-06 1 0 PARP12 64761 broad.mit.edu 37 7 139756947 139756947 + Nonsense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:139756947G>A uc003vvl.1 - 3 1343 c.469C>T c.(469-471)CAA>TAA p.Q157* PARP12_uc003vvk.1_5'UTR|PARP12_uc010lnf.1_RNA NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN poly ADP-ribose polymerase 12 157 C3H1-type 2. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding ovary(3) 3 Melanoma(164;0.0142) TTGTAATGTTGGCAAATCTGT 0.498 NA 30 76 0 0 0 0 DENND2A 27147 broad.mit.edu 37 7 140244499 140244499 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:140244499G>C uc010lnj.2 - 12 2391 c.2246C>G c.(2245-2247)TCC>TGC p.S749C DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.S749C|DENND2A_uc003vvw.2_Missense_Mutation_p.S749C|DENND2A_uc003vvx.2_Missense_Mutation_p.S749C NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 749 DENN. ovary(3)|breast(1) 4 Melanoma(164;0.00956) GACGCTGAGGGAGGAGAAGAG 0.602 NA 8 25 0 0 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673292 141673292 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:141673292G>T uc003vwx.1 - 1 282 c.198C>A c.(196-198)TTC>TTA p.F66L NM_176817 NP_789787 P59533 T2R38_HUMAN taste receptor, type 2, member 38 66 Helical; Name=2; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|skin(1) 2 Melanoma(164;0.0171) GTCCATGCAGGAAAAGCCGGC 0.493 NA 37 85 2.42e-17 4.8e-17 1 0 TAS2R40 259286 broad.mit.edu 37 7 142919319 142919319 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:142919319G>C uc011ksx.1 + 1 148 c.148G>C c.(148-150)GGC>CGC p.G50R NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 50 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) GTGGGCCAGGGGCAAAACACT 0.522 NA 23 66 0 0 0 0 OR2F1 26211 broad.mit.edu 37 7 143657134 143657134 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:143657134G>T uc003wds.1 + 1 115 c.71G>T c.(70-72)CGG>CTG p.R24L NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) TGGGACACTCGGGTCTCCCTG 0.473 NA 80 142 1.46e-39 3.11e-39 1 0 OR2A5 393046 broad.mit.edu 37 7 143747689 143747689 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:143747689G>T uc011ktw.1 + 1 195 c.195G>T c.(193-195)CTG>CTT p.L65L NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) TCTCACACCTGGCCATCATTG 0.488 NA 18 77 3.53e-06 5.7e-06 1 0 OR2A12 346525 broad.mit.edu 37 7 143793100 143793100 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:143793100A>G uc011kty.1 + 1 900 c.900A>G c.(898-900)CTA>CTG p.L300L NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) AAGGGGCTCTAAAGAGAGTCC 0.453 NA 68 186 0 0 0 0 OR2A14 135941 broad.mit.edu 37 7 143826284 143826284 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:143826284T>C uc011kua.1 + 1 79 c.79T>C c.(79-81)TGT>CGT p.C27R NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 27 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) GATTCTCCTCTGTGGACTTTT 0.502 NA 28 80 0 0 0 0 ZNF467 168544 broad.mit.edu 37 7 149462862 149462862 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:149462862G>A uc003wgd.2 - 5 870 c.729C>T c.(727-729)CCC>CCT p.P243P ZNF467_uc003wgc.2_Intron NM_207336 NP_997219 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGCACGGGTAGGGCCGCTCGC 0.687 NA 12 20 0 0 0 0 GALNTL5 168391 broad.mit.edu 37 7 151711783 151711783 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:151711783A>G uc003wkp.2 + 8 1304 c.1081A>G c.(1081-1083)ATC>GTC p.I361V GALNTL5_uc003wkq.2_Missense_Mutation_p.I112V|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.I250V NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 361 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) AGTAGGACATATCAGTAAGAA 0.408 NA 22 57 0 0 0 0 PTPRN2 5799 broad.mit.edu 37 7 157364177 157364177 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:157364177T>C uc003wno.2 - 20 2913 c.2792A>G c.(2791-2793)AAC>AGC p.N931S PTPRN2_uc003wnp.2_Missense_Mutation_p.N914S|PTPRN2_uc003wnq.2_Missense_Mutation_p.N902S|PTPRN2_uc003wnr.2_Missense_Mutation_p.N893S|PTPRN2_uc011kwa.1_Missense_Mutation_p.N954S|PTPRN2_uc003wnn.2_5'Flank NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 931 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) GTAGCACTTGTTTACTTTTCT 0.338 NA 21 63 0 0 0 0 SGK223 157285 broad.mit.edu 37 8 8185684 8185684 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:8185684G>A uc003wsh.3 - 4 2608 c.2608C>T c.(2608-2610)CAC>TAC p.H870Y NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 870 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 ACAGGATGGTGGCGGTTCCCG 0.592 NA 91 239 0 0 0 0 MFHAS1 9258 broad.mit.edu 37 8 8750112 8750112 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:8750112G>C uc003wsj.1 - 1 1020 c.457C>G c.(457-459)CAG>GAG p.Q153E NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 153 LRR 4. 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GCGCCCAGCTGGGCGGGCAGG 0.692 NA 6 13 0 0 0 0 TNKS 8658 broad.mit.edu 37 8 9609323 9609323 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:9609323G>T uc003wss.2 + 19 3042 c.3037G>T c.(3037-3039)GGC>TGC p.G1013C TNKS_uc011kww.1_Missense_Mutation_p.G776C|TNKS_uc010lrt.1_RNA NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 1013 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) TGCAGGGGATGGCGCCGCGGG 0.522 NA 39 101 5.45e-19 1.1e-18 1 0 RP1L1 94137 broad.mit.edu 37 8 10470038 10470038 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:10470038T>A uc003wtc.2 - 4 1799 c.1570A>T c.(1570-1572)AGG>TGG p.R524W NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 524 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CTCCGGGCCCTCGGTGTCAGG 0.697 NA 22 67 0 0 0 0 SGCZ 137868 broad.mit.edu 37 8 13959967 13959967 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:13959967C>A uc003wwq.2 - 7 1322 c.662G>T c.(661-663)CGT>CTT p.R221L SGCZ_uc010lss.2_Missense_Mutation_p.R174L NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 208 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTGGACCCCACGGGGAGCTTC 0.458 NA 16 44 2.32e-05 3.65e-05 1 0 ATP6V1B2 526 broad.mit.edu 37 8 20075667 20075667 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:20075667G>A uc003wzp.2 + 13 1484 c.1270G>A c.(1270-1272)GCG>ACG p.A424T ATP6V1B2_uc003wzq.1_5'Flank NM_001693 NP_001684 P21281 VATB2_HUMAN vacuolar H+ATPase B2 424 AC -> RA (in Ref. 7; AAA35610). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) TCTTTAGTATGCGTGCTATGC 0.438 NA 36 84 0 0 0 0 GFRA2 2675 broad.mit.edu 37 8 21560483 21560483 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:21560483G>C uc003wzu.1 - 7 1727 c.1052C>G c.(1051-1053)GCC>GGC p.A351G GFRA2_uc003wzv.1_Missense_Mutation_p.A246G|GFRA2_uc003wzw.1_Missense_Mutation_p.A218G NM_001495 NP_001486 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 isoform a 351 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity 0 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) GGCCTGGATGGCGTTCCCTGG 0.632 NA 5 11 0 0 0 0 PEBP4 157310 broad.mit.edu 37 8 22675246 22675246 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:22675246G>T uc003xcn.1 - 4 353 c.261C>A c.(259-261)GGC>GGA p.G87G NM_144962 NP_659399 Q96S96 PEBP4_HUMAN phosphatidylethanolamine-binding protein 4 87 lysosome ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) TATAGGTTGCGCCCTGTAACA 0.493 NA 29 56 5.46e-16 1.07e-15 1 0 EBF2 64641 broad.mit.edu 37 8 25715905 25715905 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:25715905G>T uc003xes.1 - 14 1475 c.1458C>A c.(1456-1458)CCC>CCA p.P486P PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 486 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AGTTGGCCATGGGGACATTGC 0.522 NA 32 59 2.85e-18 5.71e-18 1 0 PTK2B 2185 broad.mit.edu 37 8 27295006 27295006 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:27295006A>G uc003xfn.1 + 22 2328 c.1520A>G c.(1519-1521)TAT>TGT p.Y507C PTK2B_uc003xfo.1_Missense_Mutation_p.Y507C|PTK2B_uc003xfp.1_Missense_Mutation_p.Y507C|PTK2B_uc003xfq.1_Missense_Mutation_p.Y507C|PTK2B_uc003xfr.1_Missense_Mutation_p.Y253C NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 507 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TTGTATCCCTATGGGGAGGTG 0.552 NA 12 29 0 0 0 0 UNC5D 137970 broad.mit.edu 37 8 35406972 35406972 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:35406972G>T uc003xjr.1 + 2 594 c.266G>T c.(265-267)GGC>GTC p.G89V UNC5D_uc003xjs.1_Missense_Mutation_p.G84V NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 89 Extracellular (Potential).|Ig-like. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AAATGCAACGGCGAGTGGGTC 0.507 NA 17 29 5.01e-05 7.78e-05 1 0 EIF4EBP1 1978 broad.mit.edu 37 8 37914654 37914654 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:37914654G>T uc003xks.2 + 2 273 c.201G>T c.(199-201)GTG>GTT p.V67V NM_004095 NP_004086 Q13541 4EBP1_HUMAN eukaryotic translation initiation factor 4E 67 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation cytosol 0 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) ACTCACCTGTGACCAAAACAC 0.572 NA 21 81 2.71e-06 4.39e-06 1 0 TM2D2 83877 broad.mit.edu 37 8 38853858 38853858 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:38853858T>C uc003xmk.2 - 1 184 c.101A>G c.(100-102)CAC>CGC p.H34R ADAM9_uc011lcf.1_5'Flank|ADAM9_uc003xmr.2_5'Flank|ADAM9_uc011lcg.1_5'Flank|ADAM9_uc010lwr.2_5'Flank|TM2D2_uc003xml.2_5'UTR|TM2D2_uc003xmm.2_Intron|TM2D2_uc003xmn.2_Intron|ADAM9_uc003xmo.1_5'Flank|ADAM9_uc003xmp.2_5'Flank NM_078473 NP_510882 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 isoform a 34 integral to membrane 0 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) ATTTTGCGAGTGGCTCCGAGA 0.627 NA 40 82 0 0 0 0 PRKDC 5591 broad.mit.edu 37 8 48746771 48746771 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:48746771T>C uc003xqi.2 - 60 8195 c.8138A>G c.(8137-8139)GAT>GGT p.D2713G PRKDC_uc003xqj.2_Missense_Mutation_p.D2713G|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2713 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CACTTTGTTATCCACCTCGTC 0.488 NA NHEJ 115 238 0 0 0 0 PXDNL 137902 broad.mit.edu 37 8 52384809 52384809 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:52384809G>T uc003xqu.3 - 8 851 c.750C>A c.(748-750)ACC>ACA p.T250T NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 250 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGAAGTAGACGGTATTTCCTG 0.428 NA 35 93 1.67e-13 3.15e-13 1 0 RP1 6101 broad.mit.edu 37 8 55537480 55537480 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:55537480C>T uc003xsd.1 + 4 1186 c.1038C>T c.(1036-1038)ACC>ACT p.T346T RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 346 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGGAAGAAACCATAAAATGGA 0.343 NA 9 20 0 0 0 0 XKR4 114786 broad.mit.edu 37 8 56436507 56436507 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:56436507C>A uc003xsf.2 + 3 1706 c.1674C>A c.(1672-1674)GAC>GAA p.D558E NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 558 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) TTGTCAGCGACCGCGATCAGA 0.592 NA 19 56 5.35e-07 8.9e-07 1 0 ASPH 444 broad.mit.edu 37 8 62566183 62566183 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:62566183G>A uc003xuj.2 - 4 628 c.359C>T c.(358-360)CCG>CTG p.P120L ASPH_uc011leg.1_Missense_Mutation_p.P91L|ASPH_uc003xuo.2_Missense_Mutation_p.P120L|ASPH_uc011leh.1_Missense_Mutation_p.P106L|ASPH_uc003xul.2_Missense_Mutation_p.P106L|ASPH_uc011lei.1_Missense_Mutation_p.P106L|ASPH_uc011lej.1_Missense_Mutation_p.P106L|ASPH_uc003xun.2_Missense_Mutation_p.P120L|ASPH_uc011lek.1_Missense_Mutation_p.P120L|ASPH_uc003xum.2_Missense_Mutation_p.P120L NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 120 Glu-rich.|Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CTCTTCTGGCGGGACTGCTGG 0.502 NA 7 30 0 0 0 0 MTFR1 9650 broad.mit.edu 37 8 66605983 66605983 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:66605983A>T uc003xvm.2 + 4 482 c.270A>T c.(268-270)TCA>TCT p.S90S MTFR1_uc011lep.1_Silent_p.S90S|MTFR1_uc003xvn.2_Silent_p.S57S|MTFR1_uc003xvo.1_Silent_p.S80S NM_014637 NP_055452 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 isoform 1 90 mitochondrion|plasma membrane pancreas(1) 1 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) GAGAGTGTTCAGCAAGACTAA 0.408 NA 16 25 0 0 0 0 PREX2 80243 broad.mit.edu 37 8 69002942 69002942 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:69002942C>A uc003xxv.1 + 20 2269 c.2242C>A c.(2242-2244)CCA>ACA p.P748T PREX2_uc003xxu.1_Missense_Mutation_p.P748T|PREX2_uc011lez.1_Missense_Mutation_p.P683T NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 748 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GTACAGGCGGCCAACGAAGGT 0.483 NA 11 45 3.86e-05 6e-05 1 0 SULF1 23213 broad.mit.edu 37 8 70476335 70476335 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:70476335G>C uc010lza.1 + 5 842 c.125G>C c.(124-126)CGA>CCA p.R42P SULF1_uc003xyd.2_Missense_Mutation_p.R42P|SULF1_uc003xye.2_Missense_Mutation_p.R42P|SULF1_uc003xyf.2_Missense_Mutation_p.R42P|SULF1_uc003xyg.2_Missense_Mutation_p.R42P NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 42 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AAAAACATCCGACCCAACATT 0.483 NA 28 70 0 0 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75929588 75929588 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:75929588G>C uc003yan.2 + 10 1405 c.1030G>C c.(1030-1032)GGT>CGT p.G344R CRISPLD1_uc011lfk.1_Missense_Mutation_p.G156R|CRISPLD1_uc011lfl.1_Missense_Mutation_p.G156R NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 344 LCCL 1. extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) AATTCATTATGGTATAATAGA 0.343 NA 44 62 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765155 77765155 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:77765155C>A uc003yav.2 + 10 6250 c.5863C>A c.(5863-5865)CCA>ACA p.P1955T ZFHX4_uc003yau.1_Missense_Mutation_p.P2000T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1955T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1955 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCCATCTTCTCCAGAAACGcc 0.308 NA HNSCC(33;0.089) 8 18 0.000157383 0.000239122 1 0 ZFHX4 79776 broad.mit.edu 37 8 77775784 77775784 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:77775784C>A uc003yav.2 + 11 10086 c.9699C>A c.(9697-9699)CTC>CTA p.L3233L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3229 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CACCTCAGCTCCCTGGAACAG 0.517 NA HNSCC(33;0.089) 35 100 2.2e-14 4.22e-14 1 0 ZNF704 619279 broad.mit.edu 37 8 81605276 81605276 + Silent SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:81605276A>C uc003yby.1 - 3 520 c.288T>G c.(286-288)ACT>ACG p.T96T NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 96 intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) CCAAAGGGCTAGTCGACAAGC 0.512 NA 15 41 0 0 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87165148 87165148 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:87165148C>A uc003ydp.1 + 8 1064 c.995C>A c.(994-996)GCA>GAA p.A332E NM_152565 NP_689778 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 332 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding 0 GTGTGGATAGCAGAATGTATT 0.333 NA 15 40 1.5e-05 2.37e-05 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885723 88885723 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:88885723G>T uc003ydz.2 - 1 574 c.477C>A c.(475-477)CTC>CTA p.L159L NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 159 ovary(1) 1 GCGACGCTGGGAGCAGCACGG 0.562 NA 26 61 1.38e-21 2.82e-21 1 0 NECAB1 64168 broad.mit.edu 37 8 91929810 91929810 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:91929810C>A uc011lgg.1 + 6 642 c.448C>A c.(448-450)CTG>ATG p.L150M NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 150 Potential. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) CCAGAATTCCCTGGAATGTGC 0.403 NA 19 33 0.00152264 0.002239 1 0 CDH17 1015 broad.mit.edu 37 8 95161033 95161033 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:95161033C>T uc003ygh.2 - 14 1991 c.1866G>A c.(1864-1866)GTG>GTA p.V622V CDH17_uc011lgo.1_Silent_p.V408V|CDH17_uc011lgp.1_Silent_p.V622V NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 622 Cadherin 6.|Extracellular (Potential). integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CCAATGGAGCCACACTAAAGA 0.413 NA 8 19 0 0 0 0 KIAA1429 25962 broad.mit.edu 37 8 95543280 95543280 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:95543280C>A uc003ygo.1 - 6 531 c.518G>T c.(517-519)AGC>ATC p.S173I KIAA1429_uc003ygp.2_Missense_Mutation_p.S173I NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 173 Pro-rich. mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TCTTGGAGGGCTTCCATTAAA 0.393 NA 11 46 1.09e-07 1.83e-07 1 0 MTDH 92140 broad.mit.edu 37 8 98731417 98731417 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:98731417G>T uc003yhz.2 + 10 1849 c.1521G>T c.(1519-1521)CAG>CAT p.Q507H MTDH_uc010mbf.2_RNA NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN metadherin 507 Cytoplasmic (Potential). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity liver(1)|central_nervous_system(1) 2 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) AAAATAGCCAGGTAATTTTTA 0.229 NA 24 54 1.55e-18 3.12e-18 1 0 GRHL2 79977 broad.mit.edu 37 8 102656368 102656369 + Missense_Mutation DNP CC CC GT TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:102656368_102656369CC>GT uc010mbu.2 + 13 1857_1858 c.1527_1528CC>GT c.(1525-1530)GTCCTT>GTGTTT p.L510F NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN transcription factor CP2-like 3 510 cytoplasm|nucleus DNA binding ovary(2)|skin(1) 3 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) GTGGCAGTGTCCTTGTTAAACG 0.465 NA 8 25 0 0 0 0 ATP6V1C1 528 broad.mit.edu 37 8 104068161 104068161 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:104068161G>A uc003ykz.3 + 8 883 c.638G>A c.(637-639)AGC>AAC p.S213N ATP6V1C1_uc010mbz.2_Missense_Mutation_p.S138N|ATP6V1C1_uc003yla.2_Missense_Mutation_p.S213N|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.S138N NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 213 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) CCAAGGTCTAGCAAGTAAGTA 0.373 NA 9 30 0 0 0 0 RIMS2 9699 broad.mit.edu 37 8 104898151 104898151 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:104898151C>G uc003yls.2 + 2 899 c.658C>G c.(658-660)CCC>GCC p.P220A RIMS2_uc003ylp.2_Missense_Mutation_p.P442A|RIMS2_uc003ylw.2_Missense_Mutation_p.P250A|RIMS2_uc003ylq.2_Missense_Mutation_p.P250A|RIMS2_uc003ylr.2_Missense_Mutation_p.P250A NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 473 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) GAGTCCACTACCCATAGATAG 0.463 NA HNSCC(12;0.0054) 10 44 0 0 0 0 RIMS2 9699 broad.mit.edu 37 8 105027684 105027684 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:105027684G>A uc003yls.2 + 18 2828 c.2587G>A c.(2587-2589)GAA>AAA p.E863K RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.E937K|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) ACCTTATGAAGGTCTGTACAT 0.323 NA HNSCC(12;0.0054) 4 5 0 0 0 0 KCNV1 27012 broad.mit.edu 37 8 110980754 110980754 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:110980754C>A uc003ynr.3 - 3 1408 c.1066G>T c.(1066-1068)GGA>TGA p.G356* KCNV1_uc010mcw.2_Nonsense_Mutation_p.G356* NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 356 Helical; Name=Segment S5; (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) ATAGAGATTCCCACGGATAGA 0.478 NA 35 53 2.81e-11 5.1e-11 1 0 CSMD3 114788 broad.mit.edu 37 8 113246700 113246700 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:113246700T>C uc003ynu.2 - 68 10793 c.10634A>G c.(10633-10635)TAT>TGT p.Y3545C CSMD3_uc003yns.2_Missense_Mutation_p.Y2747C|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3505C|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3376C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3545 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 CTGGCTTTTATATACCCCTGT 0.313 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 82 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113256746 113256746 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:113256746G>T uc003ynu.2 - 65 10438 c.10279C>A c.(10279-10281)CTT>ATT p.L3427I CSMD3_uc003yns.2_Missense_Mutation_p.L2629I|CSMD3_uc003ynt.2_Missense_Mutation_p.L3387I|CSMD3_uc011lhx.1_Missense_Mutation_p.L3258I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3427 Extracellular (Potential).|Sushi 28. 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 TGAGATGGAAGGTCCATCCCT 0.418 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 50 0.000308642 0.000462515 1 0 CSMD3 114788 broad.mit.edu 37 8 113418923 113418923 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:113418923G>A uc003ynu.2 - 35 5798 c.5639C>T c.(5638-5640)TCT>TTT p.S1880F CSMD3_uc003yns.2_Missense_Mutation_p.S1082F|CSMD3_uc003ynt.2_Missense_Mutation_p.S1840F|CSMD3_uc011lhx.1_Missense_Mutation_p.S1776F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1880 Sushi 10.|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 TTCAGGCACAGAACTGCATTG 0.338 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 48 0 0 0 0 ADCY8 114 broad.mit.edu 37 8 131861992 131861992 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:131861992G>C uc003ytd.3 - 10 2524 c.2268C>G c.(2266-2268)GTC>GTG p.V756V ADCY8_uc010mds.2_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 756 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TGGTGATGAGGACCAGAGCCG 0.473 NA HNSCC(32;0.087) 3 11 0 0 0 0 PHF20L1 51105 broad.mit.edu 37 8 133816972 133816972 + Silent SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:133816972T>G uc003ytt.2 + 8 1159 c.834T>G c.(832-834)CTT>CTG p.L278L PHF20L1_uc003ytr.2_Silent_p.L252L|PHF20L1_uc010mdv.2_Silent_p.L252L|PHF20L1_uc003yts.2_Silent_p.L278L|PHF20L1_uc011lja.1_Silent_p.L252L|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytv.2_Silent_p.L117L NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 278 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GAGCTCGACTTAACAAGATTA 0.343 NA 20 52 0 0 0 0 TG 7038 broad.mit.edu 37 8 133899673 133899673 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:133899673G>T uc003ytw.2 + 9 2097 c.2056G>T c.(2056-2058)GCT>TCT p.A686S NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 686 Thyroglobulin type-1 6. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTTTGTCCCTGCTTGTACTAG 0.557 NA 21 46 1.02e-10 1.84e-10 1 0 SLA 6503 broad.mit.edu 37 8 134050883 134050883 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:134050883C>A uc003ytz.2 - 9 1549 c.717G>T c.(715-717)CTG>CTT p.L239L TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Silent_p.L256L|SLA_uc011ljf.1_Silent_p.L131L|SLA_uc011ljg.1_Silent_p.L212L|SLA_uc011ljd.1_Silent_p.L279L NM_001045556 NP_001039021 Q13239 SLAP1_HUMAN Src-like-adaptor isoform a 239 SLA C-terminal. LSL->QSQ: Abolishes interaction with CBL. Slightly affects dimerization. endosome SH3/SH2 adaptor activity lung(1)|liver(1) 2 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) CCTCACTGGTCAGGGACAGGT 0.522 NA 37 75 8.74e-17 1.72e-16 1 0 CPSF1 29894 broad.mit.edu 37 8 145626066 145626066 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:145626066C>T uc003zcj.2 - 7 760 c.685G>A c.(685-687)GGG>AGG p.G229R CPSF1_uc003zck.1_Missense_Mutation_p.G151R|CPSF1_uc011lle.1_Missense_Mutation_p.G229R|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Missense_Mutation_p.G229R NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 229 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GGGGCTCACCCAGGCCAGGTC 0.637 NA 8 19 0 0 0 0 KIAA1432 57589 broad.mit.edu 37 9 5757415 5757415 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:5757415T>C uc003zji.2 + 16 1812 c.1719T>C c.(1717-1719)AGT>AGC p.S573S KIAA1432_uc003zjh.2_Silent_p.S573S|KIAA1432_uc003zjl.3_Silent_p.S536S|KIAA1432_uc003zjj.1_Silent_p.S115S NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 652 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CATCAGTGAGTACAGAGAATG 0.413 NA 36 102 0 0 0 0 KDM4C 23081 broad.mit.edu 37 9 6984211 6984211 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:6984211G>T uc003zkh.2 + 10 1741 c.1161G>T c.(1159-1161)GAG>GAT p.E387D KDM4C_uc010mhu.2_Missense_Mutation_p.E409D|KDM4C_uc011lmi.1_Missense_Mutation_p.E387D|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.E387D|KDM4C_uc011lmk.1_Missense_Mutation_p.E206D|KDM4C_uc011lml.1_Missense_Mutation_p.E74D NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 387 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 AGGCTGATGAGGAAGAGGAAG 0.498 NA 21 51 2.38e-13 4.46e-13 1 0 PTPRD 5789 broad.mit.edu 37 9 8460478 8460478 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:8460478C>G uc003zkk.2 - 32 4519 c.3808G>C c.(3808-3810)GTT>CTT p.V1270L PTPRD_uc003zkp.2_Missense_Mutation_p.V859L|PTPRD_uc003zkq.2_Missense_Mutation_p.V859L|PTPRD_uc003zkr.2_Missense_Mutation_p.V854L|PTPRD_uc003zks.2_Missense_Mutation_p.V849L|PTPRD_uc003zkl.2_Missense_Mutation_p.V1261L|PTPRD_uc003zkm.2_Missense_Mutation_p.V1257L|PTPRD_uc003zkn.2_Missense_Mutation_p.V859L|PTPRD_uc003zko.2_Missense_Mutation_p.V856L NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1270 Helical; (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) GGACCTACAACCCAGATCAAG 0.448 NA TSP Lung(15;0.13) 19 51 0 0 0 0 BNC2 54796 broad.mit.edu 37 9 16437135 16437135 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:16437135G>A uc003zml.2 - 6 1197 c.1057C>T c.(1057-1059)CGG>TGG p.R353W BNC2_uc011lmw.1_Missense_Mutation_p.R258W|BNC2_uc003zmm.2_Missense_Mutation_p.R311W|BNC2_uc003zmq.1_Missense_Mutation_p.R367W|BNC2_uc003zmr.1_Missense_Mutation_p.R390W|BNC2_uc003zmp.1_Missense_Mutation_p.R381W|BNC2_uc010mij.1_Missense_Mutation_p.R275W|BNC2_uc011lmv.1_Missense_Mutation_p.R179W|BNC2_uc003zmo.1_Missense_Mutation_p.R275W|BNC2_uc003zmj.2_Missense_Mutation_p.R118W|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R118W|BNC2_uc003zmn.1_Missense_Mutation_p.R118W NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 353 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) CTGGGTTCCCGCAGCCTCAAC 0.468 NA 30 101 0 0 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18889647 18889647 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:18889647G>A uc003zne.3 + 25 4671 c.4544G>A c.(4543-4545)TGC>TAC p.C1515Y ADAMTSL1_uc003znf.3_Missense_Mutation_p.C216Y NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1515 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CGCTTGAGGTGCCTGCTGAAC 0.642 NA 8 20 0 0 0 0 PLAA 9373 broad.mit.edu 37 9 26905641 26905641 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:26905641A>G uc003zqd.2 - 14 2681 c.2256T>C c.(2254-2256)CTT>CTC p.L752L NM_001031689 NP_001026859 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 752 PUL. phospholipid metabolic process|signal transduction phospholipase A2 activator activity 0 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) CATCACTGATAAGTGTTCCAA 0.373 NA 18 53 0 0 0 0 PRSS3 5646 broad.mit.edu 37 9 33799064 33799064 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:33799064C>G uc003ztj.3 + 5 801 c.801C>G c.(799-801)CTC>CTG p.L267L uc003ztk.1_Intron|PRSS3_uc003zti.3_Silent_p.L224L|PRSS3_uc003ztl.3_Silent_p.L210L NM_007343 NP_031369 P35030 TRY3_HUMAN mesotrypsin isoform 1 preproprotein 267 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity 0 LUSC - Lung squamous cell carcinoma(29;0.0176) ACGGACAGCTCCAAGGAGTTG 0.522 NA 34 100 0 0 0 0 VCP 7415 broad.mit.edu 37 9 35061050 35061050 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:35061050C>A uc003zvy.2 - 11 1710 c.1321G>T c.(1321-1323)GTC>TTC p.V441F VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.V110F|VCP_uc010mki.1_Missense_Mutation_p.V396F NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 441 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GAGTTCATGACCTCGGCATCA 0.527 NA 54 181 1.55e-18 3.11e-18 1 0 RUSC2 9853 broad.mit.edu 37 9 35557972 35557972 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:35557972G>T uc003zww.2 + 6 3300 c.3045G>T c.(3043-3045)CGG>CGT p.R1015R RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.R1015R NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1015 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GCACAAGCCGGGATCCCGGGG 0.557 NA 24 73 3.8e-20 7.72e-20 1 0 TESK1 7016 broad.mit.edu 37 9 35609311 35609311 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:35609311C>T uc003zxa.2 + 10 1789 c.1453C>T c.(1453-1455)CAG>TAG p.Q485* TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Nonsense_Mutation_p.Q325* NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 485 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCCAGCGCCCCAGCTGCCTCT 0.647 NA 23 59 0 0 0 0 SPAG8 26206 broad.mit.edu 37 9 35809452 35809452 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:35809452C>A uc003zye.2 - 7 1436 c.1321G>T c.(1321-1323)GAA>TAA p.E441* NPR2_uc003zyd.2_3'UTR|NPR2_uc010mlb.2_3'UTR NM_172312 NP_758516 Q99932 SPAG8_HUMAN sperm associated antigen 8 isoform 2 Error:Variant_position_missing_in_Q99932_after_alignment acrosomal vesicle|membrane ovary(1) 1 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) AACCCCCATTCTTTCCAAGTC 0.493 NA 99 244 3.37e-40 7.18e-40 1 0 PAX5 5079 broad.mit.edu 37 9 36846845 36846845 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:36846845A>T uc003zzo.1 - 9 1542 c.1094T>A c.(1093-1095)CTG>CAG p.L365Q PAX5_uc011lpt.1_Missense_Mutation_p.L161Q|PAX5_uc011lpu.1_RNA|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.L265Q|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.L322Q|PAX5_uc011lqa.1_Missense_Mutation_p.L257Q|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.L331Q|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.C288S NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 365 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(11) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CTCACCAAGCAGCCCCGGGTT 0.632 NA T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL 9 23 0 0 0 0 FBXO10 26267 broad.mit.edu 37 9 37531943 37531943 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:37531943C>G uc004aab.2 - 4 1581 c.1532G>C c.(1531-1533)GGT>GCT p.G511A FBXO10_uc004aac.2_Missense_Mutation_p.G527A|FBXO10_uc004aad.2_Missense_Mutation_p.G61A NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 511 PbH1 6. ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) GATGTCTACACCAGCCTCTGC 0.493 NA 12 42 0 0 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745967 37745967 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:37745967C>A uc004aag.1 + 16 3982 c.3938C>A c.(3937-3939)GCC>GAC p.A1313D FRMPD1_uc004aah.1_Missense_Mutation_p.A1313D NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1313 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CTCAGGGTGGCCACATCTTTG 0.532 NA 33 91 1.08e-15 2.11e-15 1 0 C9orf71 169693 broad.mit.edu 37 9 71152371 71152371 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:71152371T>A uc004agt.2 - 2 370 c.317A>T c.(316-318)GAG>GTG p.E106V uc004ags.1_RNA NM_153237 NP_694969 Q8N6L7 CI071_HUMAN hypothetical protein LOC169693 106 integral to membrane 0 CTTTTCCACCTCAAGGCTCTC 0.498 NA 16 40 0 0 0 0 TJP2 9414 broad.mit.edu 37 9 71835869 71835869 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:71835869G>A uc004ahe.2 + 5 609 c.409G>A c.(409-411)GAC>AAC p.D137N TJP2_uc011lrs.1_Missense_Mutation_p.D114N|TJP2_uc004ahb.1_Missense_Mutation_p.D114N|TJP2_uc011lrt.1_Missense_Mutation_p.D114N|TJP2_uc004ahd.2_Missense_Mutation_p.D137N|TJP2_uc004ahf.2_Missense_Mutation_p.D137N|TJP2_uc011lru.1_Missense_Mutation_p.D141N|TJP2_uc011lrv.1_Missense_Mutation_p.D159N NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 137 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 GGATCAGGATGACCGGGCTTT 0.612 NA 7 22 0 0 0 0 RORB 6096 broad.mit.edu 37 9 77282809 77282809 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:77282809T>A uc004aji.2 + 8 1185 c.1136T>A c.(1135-1137)ATA>AAA p.I379K RORB_uc004ajh.2_Missense_Mutation_p.I368K NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 379 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 GCTGTTCTGATATCTCCAGGT 0.413 NA 12 56 0 0 0 0 FOXB2 442425 broad.mit.edu 37 9 79635323 79635323 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:79635323G>T uc004ako.1 + 1 753 c.753G>T c.(751-753)TCG>TCT p.S251S NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 251 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 GGCTGGGCTCGgccgccgccg 0.388 NA 7 17 2.77e-08 4.76e-08 1 0 FLJ46321 389763 broad.mit.edu 37 9 84606419 84606419 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:84606419G>T uc004amn.2 + 4 1081 c.1034G>T c.(1033-1035)GGC>GTC p.G345V NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 345 integral to membrane 0 ACAATCAAAGGCATTGACCAT 0.458 NA 39 84 1.07e-22 2.21e-22 1 0 FLJ46321 389763 broad.mit.edu 37 9 84608333 84608333 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:84608333T>C uc004amn.2 + 4 2995 c.2948T>C c.(2947-2949)CTT>CCT p.L983P NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 983 integral to membrane 0 GTCCCCATCCTTGATCGTCCT 0.488 NA 67 124 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84608809 84608809 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:84608809G>T uc004amn.2 + 4 3471 c.3424G>T c.(3424-3426)GGC>TGC p.G1142C NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1142 integral to membrane 0 CAGGCTTCAGGGCAGTAGAAA 0.468 NA 21 30 1.01e-13 1.91e-13 1 0 NOL8 55035 broad.mit.edu 37 9 95076834 95076834 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:95076834T>C uc004arv.2 - 7 2410 c.2073A>G c.(2071-2073)ATA>ATG p.I691M NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.I623M NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 691 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 TGTCAAAGCCTATGTTGTGAG 0.438 NA 7 52 0 0 0 0 SUSD3 203328 broad.mit.edu 37 9 95846964 95846964 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:95846964C>G uc004atb.2 + 5 739 c.703C>G c.(703-705)CCC>GCC p.P235A SUSD3_uc004atc.2_Missense_Mutation_p.P222A NM_145006 NP_659443 Q96L08 SUSD3_HUMAN sushi domain containing 3 235 Cytoplasmic (Potential). integral to membrane breast(2)|skin(2)|ovary(1)|lung(1) 6 CCCCAGACAGCCCCTGCCTGC 0.637 NA 52 157 0 0 0 0 WNK2 65268 broad.mit.edu 37 9 96025977 96025977 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:96025977G>T uc004ati.1 + 14 3540 c.3540G>T c.(3538-3540)CGG>CGT p.R1180R WNK2_uc011lud.1_Silent_p.R1180R|WNK2_uc004atj.2_Silent_p.R1180R|WNK2_uc004atk.2_Silent_p.R817R NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1180 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 CGCGCTCCCGGCAGGAGAGGG 0.537 NA 6 9 5.94e-07 9.85e-07 1 0 PTPDC1 138639 broad.mit.edu 37 9 96859788 96859788 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:96859788G>T uc004auf.1 + 7 1118 c.778G>T c.(778-780)GCT>TCT p.A260S PTPDC1_uc004aug.1_Missense_Mutation_p.A260S|PTPDC1_uc004auh.1_Missense_Mutation_p.A312S|PTPDC1_uc010mrj.1_Missense_Mutation_p.A314S|PTPDC1_uc010mri.1_Missense_Mutation_p.A312S NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 260 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 CAAAGCACATGCTGTCACCTT 0.438 NA 129 76 1.62e-62 3.47e-62 1 0 GABBR2 9568 broad.mit.edu 37 9 101216274 101216274 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:101216274A>G uc004ays.2 - 7 1381 c.1225T>C c.(1225-1227)TTC>CTC p.F409L NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 409 Extracellular (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GTGACCCCGAAGAAGTTGGTC 0.532 NA 73 70 0 0 0 0 CYLC2 1539 broad.mit.edu 37 9 105765547 105765547 + Splice_Site SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:105765547T>C uc004bbs.2 + 3 250 c.180_splice c.e3+2 p.S60_splice NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) ACGGTTTCTGTAAGCATTGGA 0.284 NA 16 52 0 0 0 0 OR13C9 286362 broad.mit.edu 37 9 107379790 107379790 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:107379790C>T uc011lvr.1 - 1 696 c.696G>A c.(694-696)GAG>GAA p.E232E NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCTTCTCCCCTCAGAGGAGT 0.428 NA 19 85 0 0 0 0 RGS3 5998 broad.mit.edu 37 9 116353656 116353656 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:116353656G>T uc004bhq.2 + 22 3268 c.3059G>T c.(3058-3060)CGG>CTG p.R1020L RGS3_uc004bhs.2_Missense_Mutation_p.R910L|RGS3_uc004bht.2_Missense_Mutation_p.R739L|RGS3_uc010muy.2_Missense_Mutation_p.R413L|RGS3_uc004bhv.2_Missense_Mutation_p.R341L|RGS3_uc010muz.1_Missense_Mutation_p.R359L|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.R330L|RGS3_uc004bhx.2_Missense_Mutation_p.R341L|RGS3_uc004bhy.1_Missense_Mutation_p.R330L|RGS3_uc004bhz.2_Missense_Mutation_p.R362L|RGS3_uc004bia.2_5'Flank NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 1020 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 GAAGCCTCCCGGAAGAGAAAG 0.587 NA 24 63 2.45e-14 4.67e-14 1 0 ORM2 5005 broad.mit.edu 37 9 117092788 117092788 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:117092788A>T uc004bil.2 + 2 305 c.189A>T c.(187-189)CAA>CAT p.Q63H ORM1_uc011lxo.1_Intron NM_000608 NP_000599 P19652 A1AG2_HUMAN orosomucoid 2 precursor 63 acute-phase response|regulation of immune system process|transport extracellular space binding 0 Myeloproliferative disorder(63;0.163) AGGAGATCCAAGCAACCTTCT 0.512 NA 28 48 0 0 0 0 TNC 3371 broad.mit.edu 37 9 117849088 117849088 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:117849088C>A uc004bjj.3 - 3 1284 c.922G>T c.(922-924)GAA>TAA p.E308* TNC_uc010mvf.2_Nonsense_Mutation_p.E308* NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 308 EGF-like 5. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 CTGCAGTCTTCGCCCGTGAAA 0.557 NA 53 79 2.12e-23 4.4e-23 1 0 PAPPA 5069 broad.mit.edu 37 9 118950331 118950331 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:118950331G>T uc004bjn.2 + 2 1695 c.1314G>T c.(1312-1314)GGG>GGT p.G438G PAPPA_uc011lxp.1_Silent_p.G231G|PAPPA_uc011lxq.1_Silent_p.G231G NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 438 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 ACGACGGCGGGGATTGCCGCC 0.597 NA 17 62 1.45e-14 2.78e-14 1 0 ASTN2 23245 broad.mit.edu 37 9 119976723 119976723 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:119976723C>A uc004bjs.1 - 3 1030 c.929G>T c.(928-930)CGC>CTC p.R310L ASTN2_uc004bjr.1_Missense_Mutation_p.R310L|ASTN2_uc004bjt.1_Missense_Mutation_p.R310L NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 310 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CTCGTCCTCGCGGGAGACATG 0.577 NA 28 93 2.66e-16 5.23e-16 1 0 DBC1 1620 broad.mit.edu 37 9 122075568 122075568 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:122075568G>A uc004bkc.2 - 2 522 c.66C>T c.(64-66)CCC>CCT p.P22P DBC1_uc004bkd.2_Silent_p.P22P NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 22 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 CCTGGTGGGAGGGCTGCACTG 0.512 NA 43 54 0 0 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123177356 123177356 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:123177356C>G uc004bkf.2 - 28 4440 c.4259G>C c.(4258-4260)CGG>CCG p.R1420P CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R429P|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R705P|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R1420P|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R685P|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R685P|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R685P|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R1190P|CDK5RAP2_uc004bki.2_Missense_Mutation_p.R1187P NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1420 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 CAACTGTTTCCGTAGCTTCTC 0.408 NA 23 93 0 0 0 0 CEP110 11064 broad.mit.edu 37 9 123875817 123875817 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:123875817A>G uc004bkx.1 + 8 1191 c.1160A>G c.(1159-1161)TAC>TGC p.Y387C CEP110_uc004bkw.2_Missense_Mutation_p.Y387C|CEP110_uc004bky.1_5'UTR NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 387 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 GAAAGCCCTTACATTGGCAAA 0.358 NA 26 64 0 0 0 0 RBM18 92400 broad.mit.edu 37 9 125004254 125004254 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:125004254T>G uc004bma.2 - 6 648 c.482A>C c.(481-483)TAT>TCT p.Y161S RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA NM_033117 NP_149108 Q96H35 RBM18_HUMAN RNA binding motif protein 18 161 nucleotide binding|RNA binding 0 CGCTGCTGGATACTCTGCATC 0.408 NA 18 62 0 0 0 0 PTGS1 5742 broad.mit.edu 37 9 125154751 125154751 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:125154751C>A uc004bmg.1 + 11 1863 c.1728C>A c.(1726-1728)TAC>TAA p.Y576* PTGS1_uc011lys.1_Nonsense_Mutation_p.Y514*|PTGS1_uc010mwb.1_Nonsense_Mutation_p.Y430*|PTGS1_uc004bmf.1_Nonsense_Mutation_p.Y539*|PTGS1_uc004bmh.1_Nonsense_Mutation_p.Y467*|PTGS1_uc011lyt.1_Nonsense_Mutation_p.Y467* NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 576 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CCTGTCCCTACGTTTCCTTCC 0.582 NA 31 100 2.61e-14 4.98e-14 1 0 OR1L6 392390 broad.mit.edu 37 9 125512443 125512443 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:125512443T>C uc011lzc.1 + 1 425 c.425T>C c.(424-426)ATG>ACG p.M142T NM_001004453 NP_001004453 Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, 142 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TACTTCTTTATGGCATTTGGG 0.488 NA 34 148 0 0 0 0 LRSAM1 90678 broad.mit.edu 37 9 130241717 130241717 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:130241717G>T uc004brb.1 + 13 1181 c.836G>T c.(835-837)CGG>CTG p.R279L LRSAM1_uc010mxk.1_Missense_Mutation_p.R279L|LRSAM1_uc004brc.1_Missense_Mutation_p.R279L|LRSAM1_uc004brd.1_Missense_Mutation_p.R279L|LRSAM1_uc004bre.1_5'UTR NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 279 Potential. negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 CTGGGGCAGCGGGAGCACACC 0.602 NA 29 32 7.01e-11 1.27e-10 1 0 SH2D3C 10044 broad.mit.edu 37 9 130506941 130506941 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:130506941G>T uc004bsc.2 - 7 1844 c.1702C>A c.(1702-1704)CGG>AGG p.R568R SH2D3C_uc010mxo.2_Silent_p.R408R|SH2D3C_uc004bry.2_Silent_p.R410R|SH2D3C_uc004brz.3_Silent_p.R214R|SH2D3C_uc011mak.1_Silent_p.R214R|SH2D3C_uc004bsa.2_Silent_p.R411R|SH2D3C_uc004bsb.2_Silent_p.R500R NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 568 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 TCCAGTGGCCGGTTATCCCTG 0.612 NA 48 135 5.34e-22 1.1e-21 1 0 LAMC3 10319 broad.mit.edu 37 9 133946978 133946978 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:133946978G>A uc004caa.1 + 18 3275 c.3177G>A c.(3175-3177)AGG>AGA p.R1059R NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1059 Cell attachment site (Potential).|Domain II and I. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) AGGCCCCAAGGGGGGACGTCT 0.657 NA 26 38 0 0 0 0 NUP214 8021 broad.mit.edu 37 9 134021593 134021593 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:134021593C>A uc004cag.2 + 13 1958 c.1847C>A c.(1846-1848)TCC>TAC p.S616Y NUP214_uc004cah.2_Missense_Mutation_p.S605Y|NUP214_uc004cai.2_Missense_Mutation_p.S45Y|NUP214_uc004caf.1_Missense_Mutation_p.S605Y|NUP214_uc010mzf.2_5'UTR NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 616 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TCTTCTGCCTCCAAGCCAGCT 0.567 NA T DEK|SET|ABL1 AML|T-ALL 231 318 1.96e-89 4.2e-89 1 0 BAT2L1 84726 broad.mit.edu 37 9 134350269 134350269 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:134350269G>T uc004can.3 + 15 2808 c.2753G>T c.(2752-2754)TGG>TTG p.W918L BAT2L1_uc010mzj.1_Missense_Mutation_p.W501L|BAT2L1_uc004cao.3_Missense_Mutation_p.W276L NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 918 protein binding 0 GAGCCTGAATGGACTCCCGAG 0.642 NA 8 8 5.18e-06 8.36e-06 1 0 POMT1 10585 broad.mit.edu 37 9 134394277 134394277 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:134394277G>A uc004cav.2 + 15 1687 c.1485G>A c.(1483-1485)GGG>GGA p.G495G POMT1_uc004cax.2_Silent_p.G473G|POMT1_uc011mcj.1_Silent_p.G251G|POMT1_uc004cau.2_Silent_p.G473G|POMT1_uc004caw.2_Silent_p.G419G|POMT1_uc011mck.1_Silent_p.G356G|POMT1_uc011mcl.1_Silent_p.G321G|POMT1_uc011mcm.1_Silent_p.G443G|POMT1_uc011mcn.1_3'UTR NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 isoform a 495 MIR 3. multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) AGATCGTCGGGGAGAAGCTGT 0.677 NA 22 47 0 0 0 0 SURF2 6835 broad.mit.edu 37 9 136226863 136226863 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:136226863T>C uc004cdi.2 + 4 423 c.375T>C c.(373-375)CCT>CCC p.P125P NM_017503 NP_059973 Q15527 SURF2_HUMAN surfeit 2 125 protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) AGTACGTGCCTGCCTGCCTGG 0.647 NA 9 23 0 0 0 0 SEC16A 9919 broad.mit.edu 37 9 139353630 139353630 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:139353630C>G uc004chx.2 - 17 5674 c.5365G>C c.(5365-5367)GCC>CCC p.A1789P SEC16A_uc004chu.2_5'Flank|SEC16A_uc004chv.3_Missense_Mutation_p.A1179P|SEC16A_uc004chw.2_Missense_Mutation_p.A1789P|SEC16A_uc010nbn.2_Missense_Mutation_p.A1789P NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1611 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) AGGGACTGGGCGTACTCATAG 0.522 NA 60 65 0 0 0 0 SHOX 6473 broad.mit.edu 37 X 601734 601734 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:601734G>T uc004cph.1 + 5 1236 c.545G>T c.(544-546)GGC>GTC p.G182V SHOX_uc004cpi.2_Missense_Mutation_p.G182V NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 182 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTGGACACAGGCGTCATCTTG 0.602 NA 18 49 8.28e-16 1.62e-15 1 0 TLR7 51284 broad.mit.edu 37 X 12906382 12906382 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:12906382C>G uc004cvc.2 + 3 2894 c.2755C>G c.(2755-2757)CCA>GCA p.P919A NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 919 TIR.|Cytoplasmic (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|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|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) ACTGGAAGACCCAAGAGAGAA 0.458 NA 56 47 0 0 0 0 SMS 6611 broad.mit.edu 37 X 22010722 22010722 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:22010722G>A uc004dag.2 + 10 1054 c.953G>A c.(952-954)TGT>TAT p.C318Y SMS_uc010nfs.2_RNA|SMS_uc010nft.2_Intron NM_004595 NP_004586 P52788 SPSY_HUMAN spermine synthase 318 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity ovary(1) 1 Spermine(DB00127) TAGGGGAACTGTGTCAATCTG 0.453 NA 4 7 0 0 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766738 27766738 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:27766738G>T uc011mjy.1 + 1 1813 c.1726G>T c.(1726-1728)GAC>TAC p.D576Y NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 CAGCCTGTTTGACCAGTACAT 0.498 NA 11 9 1.59e-06 2.59e-06 1 0 MAGEB10 139422 broad.mit.edu 37 X 27839501 27839501 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:27839501A>T uc004dbw.2 + 3 305 c.78A>T c.(76-78)ATA>ATT p.I26I NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 26 lung(1)|breast(1)|central_nervous_system(1) 3 AAGATTTGATAGATGCTCTGG 0.512 NA 18 20 0 0 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973704 29973704 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:29973704C>G uc004dby.2 + 11 2366 c.1858C>G c.(1858-1860)CGT>GGT p.R620G NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 620 Cytoplasmic (Potential).|Interaction with NCS1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TTCACAAATGCGTCAGAAACA 0.532 NA 7 10 0 0 0 0 NR0B1 190 broad.mit.edu 37 X 30326348 30326348 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:30326348T>G uc004dcf.3 - 1 1148 c.1133A>C c.(1132-1134)TAC>TCC p.Y378S NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 378 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) GAGGTAGGCGTACTCCTTGGT 0.587 NA OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 22 0 0 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49142667 49142667 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:49142667G>A uc004dnh.1 + 4 1531 c.1515G>A c.(1513-1515)GCG>GCA p.A505A PPP1R3F_uc011mnd.1_Silent_p.A176A|PPP1R3F_uc004dni.2_Silent_p.A159A|PPP1R3F_uc004dnj.1_Silent_p.A159A NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 505 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) CTGTGGCTGCGGGTGGGGCAG 0.657 NA 8 2 0 0 0 0 CCNB3 85417 broad.mit.edu 37 X 50052855 50052855 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:50052855T>A uc004dox.3 + 6 1984 c.1686T>A c.(1684-1686)TCT>TCA p.S562S CCNB3_uc004doy.2_Silent_p.S562S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 562 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) ATAAGAATTCTTTCTTTATGG 0.373 NA 10 10 0 0 0 0 CCNB3 85417 broad.mit.edu 37 X 50053222 50053222 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:50053222A>C uc004dox.3 + 6 2351 c.2053A>C c.(2053-2055)AAA>CAA p.K685Q CCNB3_uc004doy.2_Missense_Mutation_p.K685Q|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 685 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) GCATACCAACAAAAGTGGGTC 0.463 NA 10 10 0 0 0 0 TRO 7216 broad.mit.edu 37 X 54949662 54949662 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:54949662A>G uc004dtq.2 + 3 804 c.697A>G c.(697-699)ACC>GCC p.T233A TRO_uc011moj.1_Missense_Mutation_p.T176A|TRO_uc004dts.2_Missense_Mutation_p.T233A|TRO_uc004dtr.2_Missense_Mutation_p.T233A|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 233 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 CCATACAGCTACCACCCAAGG 0.512 NA 23 11 0 0 0 0 TBX22 50945 broad.mit.edu 37 X 79286337 79286337 + Missense_Mutation SNP T T G rs144871606 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:79286337T>G uc010nmg.1 + 9 1424 c.1290T>G c.(1288-1290)AGT>AGG p.S430R TBX22_uc004edi.1_Missense_Mutation_p.S310R|TBX22_uc004edj.1_Missense_Mutation_p.S430R NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 430 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 AAGACTCCAGTGATCAGTATC 0.433 NA 41 36 0 0 0 0 CSTF2 1478 broad.mit.edu 37 X 100088319 100088319 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:100088319G>T uc004egh.2 + 11 1416 c.1358G>T c.(1357-1359)CGT>CTT p.R453L CSTF2_uc010nnd.2_Missense_Mutation_p.R473L|CSTF2_uc004egi.2_Missense_Mutation_p.R436L NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 453 9.|12 X 5 AA tandem repeats of M-E-A-R-[AG]. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 ATGGAGGCCCGTGCAATGGAA 0.612 NA 5 5 1.02e-07 1.73e-07 1 0 ESX1 80712 broad.mit.edu 37 X 103495025 103495025 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:103495025C>A uc004ely.2 - 4 1163 c.1105G>T c.(1105-1107)GGG>TGG p.G369W NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 369 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.|14. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 ATGGGCGGCCCGGGTGGCAGA 0.701 NA 11 11 0.000673444 0.0010017 1 0 TRPC5 7224 broad.mit.edu 37 X 111078301 111078301 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:111078301G>T uc004epl.1 - 7 2663 c.1744C>A c.(1744-1746)CTT>ATT p.L582I TRPC5_uc004epm.1_Missense_Mutation_p.L582I NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 582 Extracellular (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 AGATTTAAAAGGCCAAATACA 0.398 NA 110 65 1.94e-58 4.15e-58 1 0 ODZ1 10178 broad.mit.edu 37 X 123805537 123805537 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:123805537T>A uc004euj.2 - 6 1228 c.1164A>T c.(1162-1164)AAA>AAT p.K388N ODZ1_uc011muj.1_Missense_Mutation_p.K387N|ODZ1_uc010nqy.2_Missense_Mutation_p.K388N NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 388 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CTGTACCTTTTTTCTCTGATT 0.373 NA 37 24 0 0 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686094 125686094 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:125686094G>T uc004eul.2 - 1 749 c.498C>A c.(496-498)ACC>ACA p.T166T NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 166 WD 1. skin(3)|ovary(1) 4 TTTCGCCGCCGGTGGCCAGAA 0.657 NA 22 7 3.62e-10 6.48e-10 1 0 GPR101 83550 broad.mit.edu 37 X 136112422 136112422 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:136112422T>A uc011mwh.1 - 1 1412 c.1412A>T c.(1411-1413)AAG>ATG p.K471M NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 471 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) GCAGAAGAACTTCTTCAGCAT 0.493 NA 39 20 0 0 0 0 F9 2158 broad.mit.edu 37 X 138642993 138642993 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:138642993G>A uc004fas.1 + 7 846 c.817G>A c.(817-819)GTT>ATT p.V273I F9_uc004fat.1_Missense_Mutation_p.V235I NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 273 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TGAAACTGGTGTTAAAATTAC 0.368 NA 7 42 0 0 0 0 SPANXE 171489 broad.mit.edu 37 X 140785676 140785676 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:140785676G>T uc004fbq.2 - 2 333 c.240C>A c.(238-240)CTC>CTA p.L80L NM_145665 NP_663698 Q8TAD1 SPNXE_HUMAN SPANX family, member E 80 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) CCTCCATTTGGAGGGGGTTGA 0.443 NA 105 132 1.62e-62 3.48e-62 1 0 MAGEC2 51438 broad.mit.edu 37 X 141291747 141291747 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:141291747G>A uc004fbu.1 - 3 375 c.27C>T c.(25-27)TTC>TTT p.F9F NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 9 cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CAACGTTGCGGAATGGAACGC 0.537 NA HNSCC(46;0.14) 49 32 0 0 0 0 IDS 3423 broad.mit.edu 37 X 148564745 148564745 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:148564745C>A uc011mxe.1 - 9 1383 c.1185G>T c.(1183-1185)AGG>AGT p.R395S IDS_uc011mxd.1_5'UTR|IDS_uc011mxf.1_Missense_Mutation_p.R305S|IDS_uc011mxg.1_Missense_Mutation_p.R184S|IDS_uc010nsu.1_Missense_Mutation_p.R5S|IDS_uc004fcw.3_Missense_Mutation_p.R184S NM_000202 NP_000193 P22304 IDS_HUMAN iduronate-2-sulfatase isoform a precursor 395 lysosome iduronate-2-sulfatase activity|metal ion binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CCATGGATTGCCTGCCTGAAA 0.532 NA 11 9 4.69e-08 7.99e-08 1 0 PASD1 139135 broad.mit.edu 37 X 150840977 150840977 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:150840977T>A uc004fev.3 + 14 2092 c.1760T>A c.(1759-1761)CTG>CAG p.L587Q NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 587 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CAGATATGCCTGCAAAACCCA 0.348 NA 30 16 0 0 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092986 151092986 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:151092986T>A uc004fez.2 + 3 1006 c.850T>A c.(850-852)TAT>AAT p.Y284N MAGEA4_uc004ffa.2_Missense_Mutation_p.Y284N|MAGEA4_uc004ffb.2_Missense_Mutation_p.Y284N|MAGEA4_uc004ffc.2_Missense_Mutation_p.Y284N|MAGEA4_uc004ffd.2_Missense_Mutation_p.Y284N NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 284 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGAAACCAGCTATGTGAAAGT 0.552 NA 85 59 0 0 0 0 DUSP9 1852 broad.mit.edu 37 X 152915660 152915660 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:152915660A>C uc004fhx.3 + 4 1259 c.1055A>C c.(1054-1056)CAG>CCG p.Q352P DUSP9_uc004fhy.3_Missense_Mutation_p.Q352P NM_001395 NP_001386 Q99956 DUS9_HUMAN dual specificity phosphatase 9 352 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCCACTCGCAGGAGCAGGGC 0.632 NA 40 36 0 0 0 0 AMELY 266 broad.mit.edu 37 Y 6736363 6736363 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrY:6736363G>T uc004fra.1 - 5 342 c.330C>A c.(328-330)GTC>GTA p.V110V AMELY_uc004fqz.2_Silent_p.V96V NM_001143 NP_001134 Q99218 AMELY_HUMAN amelogenin, Y-linked precursor 110 Gln-rich. biomineral tissue development proteinaceous extracellular matrix structural constituent of tooth enamel 0 CTTGCTGGCGGACCCTGGGCT 0.612 NA 32 25 1.22e-17 2.43e-17 1 0 TBL1Y 90665 broad.mit.edu 37 Y 6958154 6958154 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrY:6958154C>A uc004frb.2 + 18 2118 c.1471C>A c.(1471-1473)CAA>AAA p.Q491K TBL1Y_uc004frc.2_Missense_Mutation_p.Q491K|TBL1Y_uc004frd.2_Missense_Mutation_p.Q491K|TBL1Y_uc011nap.1_Missense_Mutation_p.Q333K NM_033284 NP_150600 Q9BQ87 TBL1Y_HUMAN transducin beta-like 1Y 491 WD 8. transcription, DNA-dependent 0 CCACAGCTACCAAGGCACTGG 0.532 NA 11 11 7.04e-09 1.22e-08 1 0 KDM5D 8284 broad.mit.edu 37 Y 21869833 21869833 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrY:21869833T>A uc004fug.2 - 23 3674 c.3386A>T c.(3385-3387)GAC>GTC p.D1129V KDM5D_uc011naz.1_Missense_Mutation_p.D1160V|KDM5D_uc010nwy.2_Missense_Mutation_p.D1072V|KDM5D_uc004fuf.2_Missense_Mutation_p.D304V NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN jumonji, AT rich interactive domain 1D isoform 1129 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 Vitamin C(DB00126) AGAGCCTGGGTCTCTGAGGTC 0.577 NA 12 11 0 0 0 0 ELAVL4 1996 broad.mit.edu 37 1 50661318 50661319 + Frame_Shift_Ins INS - - A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:50661318_50661319insA uc001csb.2 + 5 862_863 c.594_595insA c.(592-597)CCCAGCfs p.P198fs ELAVL4_uc001cry.3_Frame_Shift_Ins_p.P201fs|ELAVL4_uc001crz.3_Frame_Shift_Ins_p.P198fs|ELAVL4_uc001csa.3_Frame_Shift_Ins_p.P215fs|ELAVL4_uc001csc.3_Frame_Shift_Ins_p.P198fs|ELAVL4_uc009vyu.2_Frame_Shift_Ins_p.P203fs|ELAVL4_uc010omz.1_Frame_Shift_Ins_p.P203fs NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 198_199 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 GCCAGAAGCCCAGCGGTGCTAC 0.569 NA 85 63 --- --- --- --- NA NA NA NA TXNIP 10628 broad.mit.edu 37 1 145439871 145439874 + Frame_Shift_Del DEL AAAG AAAG - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:145439871_145439874delAAAG uc001enn.3 + 3 758_761 c.417_420delAAAG c.(415-420)ACAAAGfs p.T139fs NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Del_p.T84fs NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 139_140 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTCAAGAGACAAAGAAAAACTTTG 0.441 NA 33 78 --- --- --- --- NA NA NA NA NID1 4811 broad.mit.edu 37 1 236208939 236208939 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:236208939delG uc001hxo.2 - 3 672 c.570delC c.(568-570)TCCfs p.S190fs NID1_uc009xgd.2_Frame_Shift_Del_p.S190fs NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 190 NIDO. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AAATGGCATAGGAGCTGGAAT 0.413 NA 15 35 --- --- --- --- NA NA NA NA PLD5 200150 broad.mit.edu 37 1 242253370 242253370 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:242253370delC uc001hzn.1 - 10 1524 c.1397delG c.(1396-1398)GGCfs p.G466fs PLD5_uc001hzl.3_Frame_Shift_Del_p.G404fs|PLD5_uc001hzm.3_Frame_Shift_Del_p.G256fs|PLD5_uc001hzo.1_Frame_Shift_Del_p.G374fs Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 466 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) AAGGCCCGTGCCAGCATTCTG 0.423 NA 65 85 --- --- --- --- NA NA NA NA NHLRC2 374354 broad.mit.edu 37 10 115636695 115636695 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:115636695delG uc001lax.1 + 3 959 c.747delG c.(745-747)TTGfs p.L249fs NM_198514 NP_940916 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 249 NHL 1. cell redox homeostasis ovary(1) 1 Epithelial(162;0.017)|all cancers(201;0.0187) ATAGAATTTTGGTCGTTTGGA 0.358 NA 11 41 --- --- --- --- NA NA NA NA OR8K1 390157 broad.mit.edu 37 11 56114379 56114379 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:56114379delC uc010rjg.1 + 1 865 c.865delC c.(865-867)CCTfs p.P289fs NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 289 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CCTGTTGATTCCTATGCTGAA 0.353 NA HNSCC(65;0.19) 26 90 --- --- --- --- NA NA NA NA OR4D9 390199 broad.mit.edu 37 11 59282896 59282896 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:59282896delC uc010rkv.1 + 1 511 c.511delC c.(511-513)CCCfs p.P171fs NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTTCTGTGGACCCAATGTTCT 0.532 NA 37 103 --- --- --- --- NA NA NA NA IRAK3 11213 broad.mit.edu 37 12 66638281 66638282 + Frame_Shift_Ins INS - - GATGA TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:66638281_66638282insGATGA uc001sth.2 + 9 1005_1006 c.903_904insGATGA c.(901-906)TTGGATfs p.L301fs IRAK3_uc010ssy.1_Frame_Shift_Ins_p.L240fs NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 301_302 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) ACATCCTTTTGGATGATCAGTT 0.396 NA 10 48 --- --- --- --- NA NA NA NA TPH2 121278 broad.mit.edu 37 12 72335486 72335487 + Frame_Shift_Ins INS - - T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:72335486_72335487insT uc009zrw.1 + 2 369_370 c.228_229insT c.(226-231)GGATTGfs p.G76fs TPH2_uc001swy.2_5'UTR NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 76_77 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) AAGTTGGTGGATTGGTAAAAGC 0.416 NA 34 65 --- --- --- --- NA NA NA NA CMKLR1 1240 broad.mit.edu 37 12 108686440 108686440 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:108686440delG uc009zuw.2 - 3 491 c.300delC c.(298-300)GCCfs p.A100fs CMKLR1_uc001tmw.2_Frame_Shift_Del_p.A100fs|CMKLR1_uc001tmv.2_Frame_Shift_Del_p.A98fs|CMKLR1_uc009zuv.2_Frame_Shift_Del_p.A100fs NM_001142345 NP_001135817 Q99788 CML1_HUMAN chemokine-like receptor 1 isoform a 100 Extracellular (Potential). chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity lung(3)|ovary(1)|pancreas(1) 5 GGTAGTCCATGGCGGCATAGG 0.498 NA 18 72 --- --- --- --- NA NA NA NA GLT1D1 144423 broad.mit.edu 37 12 129442110 129442110 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:129442110delG uc010tbh.1 + 12 825 c.816delG c.(814-816)CCGfs p.P272fs GLT1D1_uc001uhx.1_Frame_Shift_Del_p.P187fs|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 267 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) TAGAAGTACCGGTATTGGCCA 0.527 NA 11 21 --- --- --- --- NA NA NA NA RB1 5925 broad.mit.edu 37 13 48955409 48955409 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:48955409delG uc001vcb.2 + 17 1691 c.1525delG c.(1525-1527)GGAfs p.G509fs NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 509 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTTGATTCTGGAACAGATTT 0.294 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 10 11 --- --- --- --- NA NA NA NA GABRB3 2562 broad.mit.edu 37 15 26806276 26806276 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:26806276delC uc001zaz.2 - 8 1025 c.883delG c.(883-885)GAGfs p.E295fs GABRB3_uc010uae.1_Frame_Shift_Del_p.E210fs|GABRB3_uc001zba.2_Frame_Shift_Del_p.E295fs|GABRB3_uc001zbb.2_Frame_Shift_Del_p.E351fs NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 295 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGCAAGGTCTCCCGAAGGTGG 0.473 NA 28 51 --- --- --- --- NA NA NA NA STRA6 64220 broad.mit.edu 37 15 74490147 74490147 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:74490147delG uc002axk.2 - 3 308 c.126delC c.(124-126)TCCfs p.S42fs STRA6_uc002axi.2_5'Flank|STRA6_uc010ulh.1_Frame_Shift_Del_p.S80fs|STRA6_uc002axj.2_Frame_Shift_Del_p.S81fs|STRA6_uc010bji.2_Frame_Shift_Del_p.S42fs|STRA6_uc002axl.2_5'UTR|STRA6_uc002axm.2_Frame_Shift_Del_p.S42fs|STRA6_uc002axn.2_Frame_Shift_Del_p.S42fs|STRA6_uc010uli.1_Frame_Shift_Del_p.S79fs|STRA6_uc010bjj.1_RNA|STRA6_uc010bjk.2_Frame_Shift_Del_p.S42fs NM_022369 NP_071764 Q9BX79 STRA6_HUMAN stimulated by retinoic acid gene 6 homolog 42 Extracellular (Potential). adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity central_nervous_system(1) 1 TGGTGTGGCAGGAGGGCACTT 0.622 NA 15 25 --- --- --- --- NA NA NA NA APOB48R 55911 broad.mit.edu 37 16 28508798 28508798 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:28508798delG uc002dqb.1 + 3 2419 c.2409delG c.(2407-2409)GAGfs p.E803fs uc010vct.1_Intron|APOB48R_uc010byg.1_Frame_Shift_Del_p.E341fs NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 803 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 TTGGTCTGGAGGGCTCAGCAG 0.587 NA 8 49 --- --- --- --- NA NA NA NA CYLD 1540 broad.mit.edu 37 16 50811792 50811792 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:50811792delG uc002egp.1 + 8 1493 c.1078delG c.(1078-1080)GGGfs p.G360fs CYLD_uc002egn.1_Frame_Shift_Del_p.G357fs|CYLD_uc002ego.2_Frame_Shift_Del_p.G357fs|CYLD_uc010cbs.1_Frame_Shift_Del_p.G357fs|CYLD_uc002egq.1_Frame_Shift_Del_p.G357fs|CYLD_uc002egr.1_Frame_Shift_Del_p.G357fs|CYLD_uc002egs.1_Frame_Shift_Del_p.G357fs NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 360 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) TACCTTAAATGGGTCTTCTGT 0.299 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 41 47 --- --- --- --- NA NA NA NA RTN4RL1 146760 broad.mit.edu 37 17 1841024 1841025 + Frame_Shift_Del DEL CA CA - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:1841024_1841025delCA uc002ftp.2 - 2 110_111 c.91_92delTG c.(91-93)TGCfs p.C31fs NM_178568 NP_848663 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 precursor 31 LRRNT. axon regeneration anchored to plasma membrane receptor activity 0 CGCCGGGTAGCACACACAGTCC 0.658 NA 13 36 --- --- --- --- NA NA NA NA SLC16A3 9123 broad.mit.edu 37 17 80195732 80195732 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:80195732delG uc002kea.2 + 4 1225 c.1086delG c.(1084-1086)ATGfs p.M362fs SLC16A3_uc002kee.2_Frame_Shift_Del_p.M362fs|SLC16A3_uc002keb.2_Frame_Shift_Del_p.M362fs|SLC16A3_uc002kec.2_Frame_Shift_Del_p.M362fs|SLC16A3_uc002ked.2_Frame_Shift_Del_p.M362fs NM_001042422 NP_001035887 O15427 MOT4_HUMAN solute carrier family 16, member 3 362 Helical; (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity upper_aerodigestive_tract(1)|lung(1) 2 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TGCTGCTGATGGAGGCGGTGG 0.682 NA 10 30 --- --- --- --- NA NA NA NA ANKRD30B 374860 broad.mit.edu 37 18 14752966 14752966 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:14752966delG uc010dlo.2 + 3 645 c.465delG c.(463-465)GTGfs p.V155fs ANKRD30B_uc010xak.1_RNA NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 155 ANK 3. ovary(1)|skin(1) 2 TGTTAATGGTGGCAACACTGC 0.363 NA 10 31 --- --- --- --- NA NA NA NA ASXL3 80816 broad.mit.edu 37 18 31319219 31319219 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:31319219delC uc010dmg.1 + 11 1906 c.1851delC c.(1849-1851)AGCfs p.S617fs ASXL3_uc002kxq.2_Frame_Shift_Del_p.S324fs NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 617 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CTTCTGAGAGCCCAGAGGGAG 0.473 NA 15 13 --- --- --- --- NA NA NA NA MAST1 22983 broad.mit.edu 37 19 12951880 12951880 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:12951880delG uc002mvm.2 + 3 376 c.248delG c.(247-249)AGGfs p.R83fs MAST1_uc002mvk.2_Frame_Shift_Del_p.R79fs|MAST1_uc002mvl.2_Frame_Shift_Del_p.S83fs NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 83 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 TCCTCCCGAAGGTGAGTCCCT 0.637 NA 25 67 --- --- --- --- NA NA NA NA CYP4F22 126410 broad.mit.edu 37 19 15651434 15651434 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:15651434delG uc002nbh.3 + 8 1012 c.845delG c.(844-846)CGGfs p.R282fs NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 282 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 ATCCAGGAACGGCGGCGGGCA 0.617 NA 33 70 --- --- --- --- NA NA NA NA ZNF99 7652 broad.mit.edu 37 19 22941185 22941186 + Frame_Shift_Ins INS - - A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:22941185_22941186insA uc010xrh.1 - 5 1252_1253 c.1252_1253insT c.(1252-1254)TGCfs p.C418fs NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTCACATTTGCAAGGTTTCTCT 0.351 NA 19 67 --- --- --- --- NA NA NA NA TTYH1 57348 broad.mit.edu 37 19 54933436 54933436 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:54933436delC uc002qfq.2 + 4 582 c.490delC c.(490-492)CCGfs p.P164fs TTYH1_uc010yey.1_Frame_Shift_Del_p.P213fs|TTYH1_uc002qfr.2_Frame_Shift_Del_p.P164fs|TTYH1_uc002qft.2_Frame_Shift_Del_p.P164fs|TTYH1_uc002qfu.1_Frame_Shift_Del_p.P76fs NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 164 Extracellular (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) GGTGCTCGAGCCGCGCACGGA 0.716 NA 3 6 --- --- --- --- NA NA NA NA OTX1 5013 broad.mit.edu 37 2 63283445 63283446 + Frame_Shift_Ins INS - - T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:63283445_63283446insT uc002scd.2 + 5 1307_1308 c.1059_1060insT c.(1057-1062)GTCTTGfs p.V353fs OTX1_uc010ypt.1_Frame_Shift_Ins_p.V287fs NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 353_354 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) GGTTCCAGGTCTTGTGAGCCCA 0.604 NA 15 42 --- --- --- --- NA NA NA NA ANXA4 307 broad.mit.edu 37 2 70015233 70015233 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:70015233delG uc002sfr.3 + 3 284 c.57delG c.(55-57)ATGfs p.M19fs ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Frame_Shift_Del_p.M19fs|ANXA4_uc010yqo.1_Intron NM_001153 NP_001144 P09525 ANXA4_HUMAN annexin IV 17 anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity 0 TCAATGCCATGGAAGATGCCC 0.532 NA 33 90 --- --- --- --- NA NA NA NA ERBB4 2066 broad.mit.edu 37 2 212812196 212812196 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:212812196delC uc002veg.1 - 3 478 c.380delG c.(379-381)GGAfs p.G127fs ERBB4_uc002veh.1_Frame_Shift_Del_p.G127fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.G127fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.G127fs|ERBB4_uc010fut.1_Frame_Shift_Del_p.G127fs NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 127 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TCCAAAGTTTCCATCTTTTCT 0.338 NA TSP Lung(8;0.080) 15 29 --- --- --- --- NA NA NA NA ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:126178522delT uc003eiv.2 - 7 2240 c.2186delA c.(2185-2187)AAGfs p.K729fs ZXDC_uc010hsh.2_Intron|ZXDC_uc003eix.2_3'UTR NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 729 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 NA 8 878 --- --- --- --- NA NA NA NA PLCH1 23007 broad.mit.edu 37 3 155303945 155303945 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:155303945delC uc011bok.1 - 4 750 c.473delG c.(472-474)GGTfs p.G158fs PLCH1_uc011boj.1_Frame_Shift_Del_p.G158fs|PLCH1_uc011bol.1_Frame_Shift_Del_p.G140fs NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 158 Potential.|EF-hand 1. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CAAGCCGTCACCATTCTTATC 0.403 NA 24 88 --- --- --- --- NA NA NA NA SPATA16 83893 broad.mit.edu 37 3 172607391 172607392 + Frame_Shift_Ins INS - - T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:172607391_172607392insT uc003fin.3 - 11 1836_1837 c.1678_1679insA c.(1678-1680)ATGfs p.M560fs NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 560 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AAGTCGCTTCATTTTTGTTTTT 0.401 NA 7 273 --- --- --- --- NA NA NA NA SPATA16 83893 broad.mit.edu 37 3 172607397 172607397 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:172607397delG uc003fin.3 - 11 1831 c.1673delC c.(1672-1674)ACAfs p.T558fs NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 558 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CTTCATTTTTGTTTTTTGCCT 0.388 NA 7 254 --- --- --- --- NA NA NA NA GAK 2580 broad.mit.edu 37 4 860744 860745 + Frame_Shift_Ins INS - - A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:860744_860745insA uc003gbm.3 - 21 3070_3071 c.2871_2872insT c.(2869-2874)GCTGCTfs p.A957fs GAK_uc003gbn.3_Frame_Shift_Ins_p.A878fs|GAK_uc010ibk.1_3'UTR|GAK_uc010ibi.2_Frame_Shift_Ins_p.A138fs|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Frame_Shift_Ins_p.A821fs NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 957_958 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) AAACACGTACCAGCGGCAGGGG 0.629 NA 45 106 --- --- --- --- NA NA NA NA KIT 3815 broad.mit.edu 37 4 55598063 55598063 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:55598063delC uc010igr.2 + 16 2347 c.2260delC c.(2260-2262)CCCfs p.P754fs KIT_uc010igs.2_Frame_Shift_Del_p.P750fs NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 754 Protein kinase.|Cytoplasmic (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AGATGTGACTCCCGCCATCAT 0.468 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 26 96 --- --- --- --- NA NA NA NA ZNF608 57507 broad.mit.edu 37 5 123983092 123983092 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:123983092delG uc003ktq.1 - 4 3108 c.2985delC c.(2983-2985)CCCfs p.P995fs ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.P995fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.P995fs|ZNF608_uc003ktp.1_5'Flank NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 995 Ser-rich. intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TGTGGTAATAGGGAGAATGGG 0.463 NA 43 107 --- --- --- --- NA NA NA NA NSD1 64324 broad.mit.edu 37 5 176675254 176675254 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:176675254delG uc003mfr.3 + 11 4708 c.4570delG c.(4570-4572)GGGfs p.G1524fs NSD1_uc003mft.3_Frame_Shift_Del_p.G1255fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.G1421fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.G1172fs NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1524 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) ACACGATCCCGGGATGCCTGC 0.493 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 10 21 --- --- --- --- NA NA NA NA PRIM2 5558 broad.mit.edu 37 6 57512607 57512607 + Frame_Shift_Del DEL A A - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:57512607delA uc003pdx.2 + 15 1522 c.1435delA c.(1435-1437)AAAfs p.K479fs NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 479 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) AAGTGTCCAGAAAACCAAGGA 0.403 NA 49 603 --- --- --- --- NA NA NA NA ESCO2 157570 broad.mit.edu 37 8 27641568 27641569 + Frame_Shift_Ins INS - - A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:27641568_27641569insA uc003xgg.2 + 5 1090_1091 c.1007_1008insA c.(1006-1008)TCAfs p.S336fs ESCO2_uc010luy.1_Intron NM_001017420 NP_001017420 Q56NI9 ESCO2_HUMAN establishment of cohesion 1 homolog 2 336 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding central_nervous_system(1) 1 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) TCAGTCAATTCAAAAAGGTGAG 0.351 NA SC_Phocomelia_syndrome 12 49 --- --- --- --- NA NA NA NA C9orf131 138724 broad.mit.edu 37 9 35044685 35044686 + Frame_Shift_Ins INS - - C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:35044685_35044686insC uc003zvw.2 + 2 2088_2089 c.2059_2060insC c.(2059-2061)GCCfs p.A687fs C9orf131_uc003zvu.2_Frame_Shift_Ins_p.A639fs|C9orf131_uc003zvv.2_Frame_Shift_Ins_p.A614fs|C9orf131_uc003zvx.2_Frame_Shift_Ins_p.A652fs NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 687 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TGAGCTCCCAGCCCCCAGCTCA 0.54 NA 17 55 --- --- --- --- NA NA NA NA DMD 1756 broad.mit.edu 37 X 31198490 31198490 + Frame_Shift_Del DEL A A - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:31198490delA uc004dda.1 - 69 10327 c.10083delT c.(10081-10083)ACTfs p.T3361fs DMD_uc004dcq.1_Frame_Shift_Del_p.T632fs|DMD_uc004dcr.1_Frame_Shift_Del_p.T901fs|DMD_uc004dcs.1_Frame_Shift_Del_p.T901fs|DMD_uc004dct.1_Frame_Shift_Del_p.T901fs|DMD_uc004dcu.1_Frame_Shift_Del_p.T901fs|DMD_uc004dcv.1_Frame_Shift_Del_p.T901fs|DMD_uc004dcw.2_Frame_Shift_Del_p.T2017fs|DMD_uc004dcx.2_Frame_Shift_Del_p.T2020fs|DMD_uc004dcz.2_Frame_Shift_Del_p.T3238fs|DMD_uc004dcy.1_Frame_Shift_Del_p.T3357fs|DMD_uc004ddb.1_Frame_Shift_Del_p.T3353fs|DMD_uc004dcm.1_Frame_Shift_Del_p.T293fs|DMD_uc004dcn.1_Frame_Shift_Del_p.T293fs|DMD_uc004dco.1_Frame_Shift_Del_p.T293fs|DMD_uc004dcp.1_Frame_Shift_Del_p.T293fs|DMD_uc011mkb.1_Frame_Shift_Del_p.T293fs|DMD_uc010ngm.2_Frame_Shift_Del_p.T293fs NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3361 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AACTTACCGGAGTGCAATATT 0.408 NA 9 12 --- --- --- --- NA NA NA NA ZMYM3 9203 broad.mit.edu 37 X 70469326 70469327 + Frame_Shift_Ins INS - - T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:70469326_70469327insT uc004dzh.1 - 7 1541_1542 c.1454_1455insA c.(1453-1455)TTGfs p.L485fs BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Frame_Shift_Ins_p.L485fs|ZMYM3_uc004dzj.1_Frame_Shift_Ins_p.L485fs|ZMYM3_uc011mpu.1_Frame_Shift_Ins_p.L216fs|ZMYM3_uc004dzk.3_Frame_Shift_Ins_p.L485fs|ZMYM3_uc004dzl.3_Frame_Shift_Ins_p.L485fs|ZMYM3_uc004dzm.3_Frame_Shift_Ins_p.L485fs NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 485 MYM-type 4. multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) TGTACGCCCCCAAGCAGGTTGT 0.564 NA 6 7 --- --- --- --- NA NA NA NA L1CAM 3897 broad.mit.edu 37 X 153132315 153132315 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:153132315delC uc004fjb.2 - 18 2328 c.2220delG c.(2218-2220)TGGfs p.W740fs L1CAM_uc004fjc.2_Frame_Shift_Del_p.W740fs|L1CAM_uc010nuo.2_Frame_Shift_Del_p.W735fs NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 740 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCAGTCCATCCACCGGAGCG 0.652 NA 25 17 --- --- --- --- NA NA NA NA