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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample ATAD3B 83858 broad.mit.edu 37 1 1417558 1417558 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:1417558G>A uc001afv.2 + 6 656 c.555G>A c.(553-555)GAG>GAA p.E185E ATAD3B_uc001afw.2_Silent_p.E139E|ATAD3B_uc001afx.2_Silent_p.E139E NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 185 Potential. ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACAAGAATGAGATGCTGCGAG 0.672 NaN 0 0 0 0.009096 0 4 23 PLCH2 9651 broad.mit.edu 37 1 2420790 2420790 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:2420790G>T uc001aji.1 + 9 1654 c.1380G>T c.(1378-1380)CAG>CAT p.Q460H PLCH2_uc010nyz.1_Missense_Mutation_p.Q248H|PLCH2_uc009vle.1_Missense_Mutation_p.Q248H|PLCH2_uc001ajj.1_Missense_Mutation_p.Q248H|PLCH2_uc001ajk.1_Missense_Mutation_p.Q248H NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 460 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CCTCTCCACAGATGCTCAAGG 0.582 NaN 1 0 2.80697e-09 0.010729 2.96018e-09 11 65 PRDM16 63976 broad.mit.edu 37 1 3331170 3331170 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:3331170G>C uc001akf.2 + 10 2730 c.2650G>C c.(2650-2652)GAG>CAG p.E884Q PRDM16_uc001akc.2_Missense_Mutation_p.E883Q|PRDM16_uc001akd.2_Missense_Mutation_p.E883Q|PRDM16_uc001ake.2_Missense_Mutation_p.E884Q|PRDM16_uc009vlh.2_Missense_Mutation_p.E584Q NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 884 Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity). 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) AGCCCTGAAGGAGAAGTACCT 0.667 NaN T EVI1 MDS|AML 0 0 0 0.014758 0 4 27 PIK3CD 5293 broad.mit.edu 37 1 9775796 9775796 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:9775796C>G uc001aqb.3 + 4 547 c.339C>G c.(337-339)ATC>ATG p.I113M PIK3CD_uc001aqa.2_Missense_Mutation_p.I113M|PIK3CD_uc010oaf.1_Missense_Mutation_p.I113M|PIK3CD_uc001aqe.3_Missense_Mutation_p.I113M NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 113 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) AGAAGCTCATCAACTCACAGA 0.677 NaN 0 0 0 0.014323 0 17 54 C1orf127 148345 broad.mit.edu 37 1 11008902 11008902 + Splice_Site SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:11008902C>T uc010oao.1 - 8 849 c.844_splice c.e8-1 p.K282_splice C1orf127_uc001arr.1_Splice_Site_p.K264_splice|C1orf127_uc001ars.1_Splice_Site_p.K256_splice NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CAAGCCCCTTCTTCACCAAGA 0.537 NaN 0 0 0 0.003163 0 14 34 PRDM2 7799 broad.mit.edu 37 1 14104976 14104976 + Missense_Mutation SNP A A T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:14104976A>T uc001avi.2 + 8 1542 c.686A>T c.(685-687)GAG>GTG p.E229V PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E229V|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.E28V|PRDM2_uc001avk.2_Missense_Mutation_p.E28V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 229 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ACCCTCCAGGAGGTGGCCAGT 0.582 NaN 0 0 0 0.001855 0 13 100 PADI3 51702 broad.mit.edu 37 1 17586130 17586130 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:17586130C>T uc001bai.2 + 2 190 c.150C>T c.(148-150)ATC>ATT p.I50I NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 50 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GCGTGGACATCTACATCTCTC 0.592 NaN 0 0 0 0.010504 0 17 72 PADI3 51702 broad.mit.edu 37 1 17592186 17592186 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:17592186G>A uc001bai.2 + 4 419 c.379G>A c.(379-381)GGA>AGA p.G127R NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 127 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GAACTGTGAGGGAAGGCAGGA 0.547 NaN 0 0 0 0.00245 0 11 120 KIF17 57576 broad.mit.edu 37 1 21014070 21014070 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:21014070C>G uc001bdr.3 - 8 1867 c.1749G>C c.(1747-1749)CAG>CAC p.Q583H KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Missense_Mutation_p.Q583H NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 583 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CAGCGGCCTCCTGCCCGAGGC 0.652 NaN 0 0 0 0.004482 0 6 19 EPHB2 2048 broad.mit.edu 37 1 23107946 23107946 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:23107946G>A uc009vqj.1 + 2 239 c.94G>A c.(94-96)GAG>AAG p.E32K EPHB2_uc001bge.2_Missense_Mutation_p.E32K|EPHB2_uc001bgf.2_Missense_Mutation_p.E32K|EPHB2_uc010odu.1_Missense_Mutation_p.E32K NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 32 Extracellular (Potential). 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) AGCGACTGCTGAGCTGGGCTG 0.602 NaN Hereditary_Prostate_Cancer 0 0 0 0.008361 0 24 44 RPL11 6135 broad.mit.edu 37 1 24019138 24019138 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:24019138C>T uc001bhk.2 + 2 66 c.46C>T c.(46-48)CGC>TGC p.R16C RPL11_uc001bhl.2_Missense_Mutation_p.R15C|RPL11_uc001bhm.2_Missense_Mutation_p.R5C|RPL11_uc001bhn.1_Missense_Mutation_p.R5C NM_000975 NP_000966 P62913 RL11_HUMAN ribosomal protein L11 16 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) GCGGGAACTTCGCATCCGCAA 0.547 NaN 0 0 0 0.01441 0 52 125 GRHL3 57822 broad.mit.edu 37 1 24673086 24673086 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:24673086G>C uc001biy.2 + 13 1559 c.1513G>C c.(1513-1515)GAG>CAG p.E505Q GRHL3_uc001bix.2_Missense_Mutation_p.E500Q|GRHL3_uc001biz.2_Missense_Mutation_p.E407Q NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 500 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) TGAGGAGTTTGAGCCTCTGCC 0.622 NaN 0 0 0 0.013537 0 11 35 ARID1A 8289 broad.mit.edu 37 1 27094291 27094291 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:27094291C>T uc001bmv.1 + 11 3372 c.2999C>T c.(2998-3000)TCT>TTT p.S1000F ARID1A_uc001bmt.1_Missense_Mutation_p.S1000F|ARID1A_uc001bmu.1_Missense_Mutation_p.S1000F|ARID1A_uc001bmw.1_Missense_Mutation_p.S617F NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1000 Poly-Ser. 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) AAATCCAGTTCTTCTACTACA 0.473 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.010729 0 11 26 ARID1A 8289 broad.mit.edu 37 1 27100195 27100195 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:27100195C>T uc001bmv.1 + 16 4364 c.3991C>T c.(3991-3993)CAG>TAG p.Q1331* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1330*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1331*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q948*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q177*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1331 Gln-rich. 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) gcagcagcagcagcagcagca 0.502 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.005524 0 38 87 FAM46B 115572 broad.mit.edu 37 1 27332971 27332971 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:27332971C>T uc010ofj.1 - 2 914 c.742G>A c.(742-744)GAA>AAA p.E248K NM_052943 NP_443175 Q96A09 FA46B_HUMAN hypothetical protein LOC115572 248 central_nervous_system(1) 1 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) TACAGGCTTTCGCCTGTGACC 0.622 NaN 0 0 0 0.008291 0 9 19 EPB41 2035 broad.mit.edu 37 1 29319848 29319848 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:29319848C>G uc001brm.1 + 2 482 c.475C>G c.(475-477)CAG>GAG p.Q159E EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.Q159E|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.Q159E|EPB41_uc001brk.2_Missense_Mutation_p.Q159E|EPB41_uc001brl.1_Missense_Mutation_p.Q159E|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_Intron NM_203342 NP_976217 P11171 41_HUMAN erythrocyte membrane protein band 4.1 159 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton ovary(1) 1 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) GTAGCCTGCTCAGGAAGAACT 0.358 NaN 0 0 0 0.01441 0 53 133 EPB41 2035 broad.mit.edu 37 1 29319941 29319941 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:29319941C>G uc001brm.1 + 2 575 c.568C>G c.(568-570)CAA>GAA p.Q190E EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.Q190E|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.Q190E|EPB41_uc001brk.2_Missense_Mutation_p.Q190E|EPB41_uc001brl.1_Missense_Mutation_p.Q190E|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_Intron NM_203342 NP_976217 P11171 41_HUMAN erythrocyte membrane protein band 4.1 190 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton ovary(1) 1 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AGAAAGCCCTCAATCAAAAGC 0.388 NaN 0 0 0 0.00632 0 26 62 S100PBP 64766 broad.mit.edu 37 1 33291827 33291827 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:33291827G>A uc001bvz.2 + 3 404 c.127G>A c.(127-129)GAG>AAG p.E43K S100PBP_uc001bwa.1_Missense_Mutation_p.E43K|S100PBP_uc001bwb.1_Missense_Mutation_p.E43K|S100PBP_uc001bwc.2_Missense_Mutation_p.E43K|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 43 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GGAGCTGTCAGAGGGAGAAGA 0.468 NaN 0 0 0 0.004878 0 35 136 S100PBP 64766 broad.mit.edu 37 1 33292181 33292181 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:33292181G>C uc001bvz.2 + 3 758 c.481G>C c.(481-483)GAT>CAT p.D161H S100PBP_uc001bwa.1_Missense_Mutation_p.D161H|S100PBP_uc001bwb.1_Missense_Mutation_p.D161H|S100PBP_uc001bwc.2_Missense_Mutation_p.D161H|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 161 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TGCTCTGCTTGATAAGGACGA 0.383 NaN 0 0 0 0.007413 0 11 51 S100PBP 64766 broad.mit.edu 37 1 33292214 33292214 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:33292214G>A uc001bvz.2 + 3 791 c.514G>A c.(514-516)GAA>AAA p.E172K S100PBP_uc001bwa.1_Missense_Mutation_p.E172K|S100PBP_uc001bwb.1_Missense_Mutation_p.E172K|S100PBP_uc001bwc.2_Missense_Mutation_p.E172K|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 172 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CAAAGATACTGAAAAACTCTC 0.393 NaN 0 0 0 0.010504 0 12 46 S100PBP 64766 broad.mit.edu 37 1 33292240 33292240 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:33292240G>A uc001bvz.2 + 3 817 c.540G>A c.(538-540)GAG>GAA p.E180E S100PBP_uc001bwa.1_Silent_p.E180E|S100PBP_uc001bwb.1_Silent_p.E180E|S100PBP_uc001bwc.2_Silent_p.E180E|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 180 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TTGGAGAAGAGATGAGAGAAG 0.448 NaN 0 0 0 0.014323 0 15 47 GJB3 2707 broad.mit.edu 37 1 35251005 35251005 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:35251005C>G uc001bxx.2 + 2 1257 c.642C>G c.(640-642)GTC>GTG p.V214V GJB3_uc001bxy.2_Silent_p.V214V|GJB3_uc001bxz.3_Silent_p.V214V|uc010ohs.1_RNA NM_024009 NP_076872 O75712 CXB3_HUMAN connexin 31 214 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane gap junction channel activity 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GCCACAGGGTCCTGCGAGGCC 0.622 NaN 0 0 0 0.00245 0 13 33 GRIK3 2899 broad.mit.edu 37 1 37319267 37319267 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:37319267C>T uc001caz.2 - 8 1296 c.1161G>A c.(1159-1161)CGG>CGA p.R387R GRIK3_uc001cba.1_Silent_p.R387R NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 387 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CAAAATCCGTCCGCAAGCCAC 0.547 NaN 0 0 0 0.016522 0 24 67 SLC2A1 6513 broad.mit.edu 37 1 43396370 43396370 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:43396370G>A uc001cik.2 - 4 968 c.443C>T c.(442-444)TCA>TTA p.S148L NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 148 Cytoplasmic (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) GGCTGTGGGTGACACTTCACC 0.622 NaN 0 0 0 0.001168 0 6 16 RAB3B 5865 broad.mit.edu 37 1 52442680 52442680 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:52442680G>T uc001cth.2 - 2 235 c.110C>A c.(109-111)TCC>TAC p.S37Y NM_002867 NP_002858 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 37 GTP. protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(1) 1 GAAGAGGAAGGAGGTCTTGCC 0.493 NaN 1 0 1.96895e-08 0.016522 2.06835e-08 22 90 SCP2 6342 broad.mit.edu 37 1 53416446 53416446 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:53416446G>C uc001cur.1 + 4 340 c.219G>C c.(217-219)CAG>CAC p.Q73H SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_5'UTR|SCP2_uc010onp.1_Missense_Mutation_p.Q49H|SCP2_uc009vzi.1_Intron|SCP2_uc001cuq.1_Intron NM_002979 NP_002970 P22307 NLTP_HUMAN sterol carrier protein 2 isoform 1 proprotein 73 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1) 1 CCTGTGGGCAGAGGGCTATCT 0.378 NaN 0 0 0 0.008361 0 28 66 SSBP3 23648 broad.mit.edu 37 1 54692805 54692805 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:54692805C>T uc001cxe.2 - 18 1464 c.1166G>A c.(1165-1167)TGA>TAA p.*389* SSBP3_uc001cxf.2_Silent_p.*369*|SSBP3_uc001cxg.2_Silent_p.*362*|SSBP3_uc001cxd.2_Silent_p.*78* NM_145716 NP_663768 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 isoform a 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding 0 AAGGGGGGATCACACACTCAT 0.567 NaN 0 0 0 0.01441 0 52 193 KANK4 163782 broad.mit.edu 37 1 62728783 62728783 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:62728783C>T uc001dah.3 - 7 2897 c.2520G>A c.(2518-2520)GTG>GTA p.V840V KANK4_uc001dai.3_Silent_p.V212V|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Silent_p.V196V NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 840 ANK 1. ovary(3)|skin(2)|lung(1) 6 GCAGCAGCTTCACGATGGAGA 0.473 NaN 0 0 0 0.008291 0 5 24 GBP1 2633 broad.mit.edu 37 1 89520378 89520378 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:89520378G>A uc001dmx.2 - 10 1872 c.1652C>T c.(1651-1653)GCT>GTT p.A551V NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 551 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) AAGTTTAAGAGCGAGGGTCCT 0.448 NaN 0 0 0 0.00623 0 39 100 ZNF644 84146 broad.mit.edu 37 1 91405439 91405439 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:91405439C>T uc001dnw.2 - 3 1614 c.1472G>A c.(1471-1473)GGA>GAA p.G491E ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.G491E NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TGCACTTCTTCCTTCATCCTG 0.388 NaN 0 0 0 0.010818 0 29 87 ABCD3 5825 broad.mit.edu 37 1 94953293 94953293 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:94953293C>G uc001dqn.3 + 12 1113 c.1011C>G c.(1009-1011)TTC>TTG p.F337L ABCD3_uc010oto.1_Missense_Mutation_p.F361L|ABCD3_uc010otp.1_Missense_Mutation_p.F264L|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.F25L NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 337 ABC transmembrane type-1. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(1) 1 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) GTCGCCCTTTCTTAGATTTGT 0.363 NaN 0 0 0 0.012213 0 18 85 ABCD3 5825 broad.mit.edu 37 1 94953306 94953306 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:94953306C>T uc001dqn.3 + 12 1126 c.1024C>T c.(1024-1026)CAT>TAT p.H342Y ABCD3_uc010oto.1_Missense_Mutation_p.H366Y|ABCD3_uc010otp.1_Missense_Mutation_p.H269Y|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.H30Y NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 342 ABC transmembrane type-1. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(1) 1 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) AGATTTGTCTCATCCTCGACA 0.358 NaN 0 0 0 0.007291 0 13 76 ABCD3 5825 broad.mit.edu 37 1 94953342 94953342 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:94953342C>G uc001dqn.3 + 12 1162 c.1060C>G c.(1060-1062)CTA>GTA p.L354V ABCD3_uc010oto.1_Missense_Mutation_p.L378V|ABCD3_uc010otp.1_Missense_Mutation_p.L281V|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.L42V NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 354 ABC transmembrane type-1. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(1) 1 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TTCGGAACTTCTAGAGGTAAA 0.333 NaN 0 0 0 0.008871 0 5 47 FNDC7 163479 broad.mit.edu 37 1 109265152 109265152 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:109265152C>T uc001dvx.2 + 5 794 c.794C>T c.(793-795)TCA>TTA p.S265L FNDC7_uc010ova.1_Missense_Mutation_p.S32L NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 266 Fibronectin type-III 3. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TACTTGATTTCAGTTTTAGCA 0.453 NaN 0 0 0 0.00245 0 14 44 DRAM2 128338 broad.mit.edu 37 1 111674048 111674048 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:111674048G>A uc001ead.3 - 3 386 c.129C>T c.(127-129)ATC>ATT p.I43I DRAM2_uc001eae.3_Silent_p.I43I|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_5'UTR NM_178454 NP_848549 Q6UX65 DRAM2_HUMAN transmembrane protein 77 43 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane 0 TCACTTACCTGATATAAGGTA 0.338 NaN 0 0 0 0.007413 0 16 69 PRPF3 9129 broad.mit.edu 37 1 150307520 150307520 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:150307520G>C uc001eum.3 + 7 1005 c.843G>C c.(841-843)CTG>CTC p.L281L PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.L240L|PRPF3_uc010pcb.1_Silent_p.L232L|PRPF3_uc009wlq.1_RNA NM_004698 NP_004689 O43395 PRPF3_HUMAN PRP3 pre-mRNA processing factor 3 homolog 281 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding ovary(1) 1 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) TGCCTACTCTGAAAGCCAATA 0.473 NaN 0 0 0 0.013537 0 9 28 TCHH 7062 broad.mit.edu 37 1 152080083 152080083 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:152080083C>G uc001ezp.2 - 2 5610 c.5610G>C c.(5608-5610)CAG>CAC p.Q1870H TCHH_uc009wne.1_Missense_Mutation_p.Q1870H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1870 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCGACGTTTCTGCTCCTCTT 0.582 NaN 0 0 0 0.003755 0 34 75 FCRL2 79368 broad.mit.edu 37 1 157745580 157745580 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:157745580C>T uc001fre.2 - 2 96 c.37G>A c.(37-39)GTC>ATC p.V13I FCRL2_uc010phz.1_Missense_Mutation_p.V13I|FCRL2_uc009wsp.2_Missense_Mutation_p.V13I|FCRL2_uc010pia.1_Missense_Mutation_p.V13I NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 13 cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGTTCAGTGACTGCATCTGTG 0.428 NaN 0 0 0 0.007413 0 12 40 VSIG8 391123 broad.mit.edu 37 1 159827692 159827692 + Silent SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:159827692C>A uc001fuh.2 - 4 631 c.495G>T c.(493-495)CTG>CTT p.L165L C1orf204_uc001fuf.1_5'Flank|C1orf204_uc001fug.1_5'Flank NM_001013661 NP_001013683 Q5VU13 VSIG8_HUMAN V-set and immunoglobulin domain containing 8 165 Extracellular (Potential).|Ig-like V-type 2. integral to membrane central_nervous_system(1) 1 all_hematologic(112;0.0597) CATAGCACTTCAGCACCACAT 0.592 NaN 1 0 0.00010058 0.013537 0.000104042 11 38 PVRL4 81607 broad.mit.edu 37 1 161044087 161044087 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:161044087G>C uc001fxo.2 - 6 1376 c.1077C>G c.(1075-1077)CTC>CTG p.L359L PVRL4_uc010pjy.1_Silent_p.L38L|PVRL4_uc010pjz.1_Silent_p.L93L NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 359 Helical; (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGCAGAACAAGAGTGCGGCGA 0.602 NaN 0 0 0 0.01441 0 40 77 GPA33 10223 broad.mit.edu 37 1 167059489 167059489 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:167059489G>C uc001gea.1 - 1 380 c.36C>G c.(34-36)CTC>CTG p.L12L NM_005814 NP_005805 Q99795 GPA33_HUMAN transmembrane glycoprotein A33 precursor 12 integral to plasma membrane receptor activity 0 CACCTGCACAGAGTGTCCACA 0.582 NaN 0 0 0 0.001855 0 11 33 FMO3 2328 broad.mit.edu 37 1 171076861 171076861 + Missense_Mutation SNP G G A rs113006768 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:171076861G>A uc001ghi.2 + 4 478 c.367G>A c.(367-369)GGC>AGC p.G123S FMO3_uc001ghh.2_Missense_Mutation_p.G123S|FMO3_uc010pmb.1_Missense_Mutation_p.G103S|FMO3_uc010pmc.1_Missense_Mutation_p.G60S NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 123 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGCAACTACTGGCCAGTGGGA 0.403 NaN 0 0 0 0.009535 0 25 64 RNASEL 6041 broad.mit.edu 37 1 182555827 182555827 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:182555827C>G uc001gpj.1 - 1 282 c.115G>C c.(115-117)GAC>CAC p.D39H RNASEL_uc009wxz.1_Missense_Mutation_p.D39H|RNASEL_uc001gpk.2_Missense_Mutation_p.D39H|RNASEL_uc009wya.1_Missense_Mutation_p.D39H NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 39 ANK 1. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 TGGACCAGGTCAACATCTTCG 0.512 NaN Hereditary_Prostate_Cancer 0 0 0 0.012213 0 30 119 EDEM3 80267 broad.mit.edu 37 1 184680990 184680990 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:184680990C>T uc010pok.1 - 15 1819 c.1558G>A c.(1558-1560)GAT>AAT p.D520N EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.D520N NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 520 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 TTACTGTCATCCAGTTCTGTA 0.299 NaN 0 0 0 0.008291 0 9 33 ATP2B4 493 broad.mit.edu 37 1 203696675 203696675 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:203696675G>A uc001gzw.2 + 20 4169 c.3285G>A c.(3283-3285)CGG>CGA p.R1095R ATP2B4_uc001gzv.2_Silent_p.R1095R|ATP2B4_uc009xaq.2_Silent_p.R1095R|ATP2B4_uc001gzx.2_Silent_p.R126R|ATP2B4_uc009xar.2_Silent_p.R90R|ATP2B4_uc010pqj.1_5'Flank|uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 1095 Cytoplasmic (Potential).|Calmodulin-binding subdomain A. ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCTGGTTCCGGGGCCTGAACC 0.562 NaN 0 0 0 0.01441 0 39 69 CDK18 5129 broad.mit.edu 37 1 205492648 205492648 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:205492648G>A uc001hcr.2 + 3 387 c.168G>A c.(166-168)CAG>CAA p.Q56Q CDK18_uc009xbk.1_RNA|CDK18_uc009xbl.1_RNA|CDK18_uc010pri.1_Missense_Mutation_p.G77R|CDK18_uc001hcp.2_Silent_p.Q56Q|CDK18_uc001hcq.2_Silent_p.Q56Q|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'UTR NM_212503 NP_997668 Q07002 CDK18_HUMAN PCTAIRE protein kinase 3 isoform a 54 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity p.Q56*(1) stomach(2) 2 ACCCCCCGCAGGAGTGCAGCA 0.667 NaN 0 0 0 0.009096 0 3 19 YOD1 55432 broad.mit.edu 37 1 207222498 207222498 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:207222498C>G uc001hfe.1 - 2 961 c.914G>C c.(913-915)AGA>ACA p.R305T PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.R261T NM_018566 NP_061036 Q5VVQ6 OTU1_HUMAN YOD1 OTU deubiquinating enzyme 1 homolog 305 cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination intracellular protein binding|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 Prostate(682;0.19) TCTCCTTCTTCTAGCTTCATC 0.443 NaN 0 0 0 0.01441 0 56 135 INTS7 25896 broad.mit.edu 37 1 212190291 212190291 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:212190291G>A uc001hiw.1 - 4 551 c.446C>T c.(445-447)TCA>TTA p.S149L INTS7_uc009xdb.1_Missense_Mutation_p.S149L|INTS7_uc001hix.1_Missense_Mutation_p.S25L|INTS7_uc001hiy.1_Missense_Mutation_p.S149L|INTS7_uc010pta.1_Missense_Mutation_p.S100L NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 149 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) ATTATCATGTGAATCTAAACT 0.388 NaN 0 0 0 0.013726 0 31 71 HHIPL2 79802 broad.mit.edu 37 1 222715388 222715388 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:222715388C>G uc001hnh.1 - 3 1142 c.1084G>C c.(1084-1086)GAT>CAT p.D362H NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 362 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) CCAAAGGGATCTCCAGCCTGT 0.532 NaN 0 0 0 0.008871 0 19 57 HHIPL2 79802 broad.mit.edu 37 1 222716949 222716949 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:222716949C>G uc001hnh.1 - 2 962 c.904G>C c.(904-906)GAA>CAA p.E302Q NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 302 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) CGGATCTTTTCTACCTTCTTC 0.468 NaN 0 0 0 0.01441 0 84 231 HHIPL2 79802 broad.mit.edu 37 1 222717298 222717298 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:222717298C>T uc001hnh.1 - 2 613 c.555G>A c.(553-555)CTG>CTA p.L185L NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 185 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) AGTCGTTCCTCAGGACATTAG 0.612 NaN 0 0 0 0.016522 0 22 50 FBXO28 23219 broad.mit.edu 37 1 224321837 224321837 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:224321837G>C uc001hoh.2 + 3 480 c.439G>C c.(439-441)GAA>CAA p.E147Q FBXO28_uc009xef.2_Missense_Mutation_p.E147Q|FBXO28_uc010pvc.1_Intron NM_015176 NP_055991 Q9NVF7 FBX28_HUMAN F-box protein 28 isoform a 147 ovary(2)|kidney(2)|lung(1) 5 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) TGCTGCTGTTGAAACAAGGCT 0.358 NaN 0 0 0 0.004482 0 9 25 PARP1 142 broad.mit.edu 37 1 226595555 226595555 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:226595555C>G uc001hqd.3 - 1 247 c.76G>C c.(76-78)GAG>CAG p.E26Q NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 26 PARP-type 1.| cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GGGATGCTCTCGCTGCATTTC 0.507 NaN Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 0 0 0 0.004672 0 3 17 C1orf124 83932 broad.mit.edu 37 1 231474322 231474322 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:231474322G>C uc001hur.2 + 1 641 c.193G>C c.(193-195)GAG>CAG p.E65Q EXOC8_uc001huq.2_5'Flank|C1orf124_uc001hus.2_Missense_Mutation_p.E65Q|C1orf124_uc001hut.2_Missense_Mutation_p.E65Q NM_032018 NP_114407 Q9H040 CA124_HUMAN hypothetical protein LOC83932 isoform a 65 DNA repair nuclear speck DNA binding|metal ion binding 0 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) GGAGGCCGTCGAGGTGAAGTG 0.617 NaN 0 0 0 0.004289 0 32 133 LYST 1130 broad.mit.edu 37 1 235894422 235894422 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:235894422C>T uc001hxj.2 - 35 9032 c.8857G>A c.(8857-8859)GAA>AAA p.E2953K LYST_uc001hxi.2_Missense_Mutation_p.E177K NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2953 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTTGGCCCTTCTGTTGGATCC 0.408 NaN Chediak-Higashi_syndrome 0 0 0 0.012319 0 21 35 OR2T11 127077 broad.mit.edu 37 1 248790334 248790334 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:248790334G>C uc001ier.1 - 1 96 c.96C>G c.(94-96)TTC>TTG p.F32L NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 32 Helical; Name=1; (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) CGGCCCCCAAGAAAACAGCAA 0.498 NaN 0 0 0 0.006999 0 41 81 OPTN 10133 broad.mit.edu 37 10 13164440 13164440 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:13164440G>C uc001ilu.1 + 9 1273 c.835G>C c.(835-837)GAG>CAG p.E279Q OPTN_uc001ilv.1_Missense_Mutation_p.E279Q|OPTN_uc001ilw.1_Missense_Mutation_p.E279Q|OPTN_uc001ilx.1_Missense_Mutation_p.E279Q|OPTN_uc001ily.1_Missense_Mutation_p.E273Q|OPTN_uc010qbr.1_Missense_Mutation_p.E222Q|OPTN_uc001ilz.1_Missense_Mutation_p.E273Q NM_001008213 NP_001008214 Q96CV9 OPTN_HUMAN optineurin 279 Potential. cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding ovary(2) 2 AACCCAGACAGAGGGGAGCAC 0.433 NaN 0 0 0 0.004007 0 14 63 CDNF 441549 broad.mit.edu 37 10 14870191 14870191 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:14870191C>G uc001inb.1 - 2 234 c.196G>C c.(196-198)GAA>CAA p.E66Q CDNF_uc010qbv.1_Missense_Mutation_p.E66Q|CDNF_uc001inc.1_5'UTR NM_001029954 NP_001025125 Q49AH0 CDNF_HUMAN arginine-rich, mutated in early stage 66 extracellular region growth factor activity 0 CTGATCAATTCTTTCTCTATA 0.363 NaN 0 0 0 0.010504 0 20 83 ACBD7 414149 broad.mit.edu 37 10 15120550 15120550 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:15120550C>G uc001inv.2 - 4 294 c.246G>C c.(244-246)CTG>CTC p.L82L ACBD7_uc010qby.1_Intron NM_001039844 NP_001034933 Q8N6N7 ACBD7_HUMAN acyl-Coenzyme A binding domain containing 7 82 ACB. fatty-acyl-CoA binding 0 ATTTTTCTATCAGCTCCTTTG 0.398 NaN 0 0 0 0.005443 0 21 93 LYZL2 119180 broad.mit.edu 37 10 30901786 30901786 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:30901786C>G uc001ivk.2 - 4 493 c.480G>C c.(478-480)AAG>AAC p.K160N NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 114 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) TAACAATTTTCTTGGCACAGA 0.443 NaN 0 0 0 0.00499 0 8 91 ANK3 288 broad.mit.edu 37 10 61834597 61834597 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:61834597C>G uc001jky.2 - 37 6234 c.6042G>C c.(6040-6042)GAG>GAC p.E2014D ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2014 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 CTTGCACTCTCTCTGGCAGAG 0.438 NaN 0 0 0 0.01441 0 53 48 COL13A1 1305 broad.mit.edu 37 10 71716780 71716780 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:71716780C>G uc001jpr.1 + 38 2669 c.2133C>G c.(2131-2133)GTC>GTG p.V711V COL13A1_uc001jqj.1_Silent_p.V684V|COL13A1_uc001jps.1_Silent_p.V682V|COL13A1_uc001jpt.1_Silent_p.V670V|COL13A1_uc001jpu.1_Silent_p.V680V|COL13A1_uc001jpv.1_Silent_p.V685V|COL13A1_uc001jpx.1_Silent_p.V662V|COL13A1_uc001jpw.1_Silent_p.V658V|COL13A1_uc001jpy.1_Silent_p.V649V|COL13A1_uc001jpz.1_Silent_p.V654V|COL13A1_uc001jqa.1_Silent_p.V651V|COL13A1_uc001jqc.1_Silent_p.V696V|COL13A1_uc001jqb.1_Silent_p.V604V|COL13A1_uc001jql.2_Silent_p.V711V|COL13A1_uc001jqd.1_Silent_p.V699V|COL13A1_uc001jqe.1_Silent_p.V694V|COL13A1_uc001jqf.1_Silent_p.V692V|COL13A1_uc001jqg.1_Silent_p.V689V|COL13A1_uc001jqh.1_Silent_p.V699V|COL13A1_uc001jqi.1_Silent_p.V697V|COL13A1_uc010qjf.1_Silent_p.V486V NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 711 Extracellular (Potential).|Nonhelical region 4 (NC4). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) GCTTACCAGTCCAAGGCTGCT 0.552 NaN 0 0 0 0.007291 0 22 38 POLR3A 11128 broad.mit.edu 37 10 79750904 79750904 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:79750904C>T uc001jzn.2 - 21 2903 c.2809G>A c.(2809-2811)GAG>AAG p.E937K NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 937 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AGAGCAGGCTCACTGGGACAC 0.502 NaN 0 0 0 0.003755 0 30 22 SFTPA1 653509 broad.mit.edu 37 10 81373716 81373716 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:81373716C>T uc001kap.2 + 6 715 c.594C>T c.(592-594)TTC>TTT p.F198F SFTPA1_uc001kaq.2_Silent_p.F198F|SFTPA1_uc009xry.2_Silent_p.F213F|SFTPA1_uc001kar.2_Silent_p.F198F|SFTPA1_uc010qlt.1_Silent_p.F139F|SFTPA1_uc009xrz.2_Silent_p.F128F|SFTPA1_uc009xsa.2_Silent_p.F198F|SFTPA1_uc009xsf.2_RNA NM_005411 NP_005402 Q8IWL2 SFTA1_HUMAN surfactant protein A1 isoform 1 198 C-type lectin. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CTGGAGACTTCCGCTACTCAG 0.547 NaN 0 0 0 0.01441 0 82 94 FAM35A 54537 broad.mit.edu 37 10 88939998 88939998 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:88939998G>A uc001kei.3 + 7 2244 c.2130G>A c.(2128-2130)GAG>GAA p.E710E FAM35A_uc001kej.3_Silent_p.E156E NM_019054 NP_061927 Q86V20 FA35A_HUMAN hypothetical protein LOC54537 710 ovary(2)|skin(2) 4 AAACAGATGAGAACAGGATCT 0.348 NaN 0 0 0 0.00632 0 12 17 TLL2 7093 broad.mit.edu 37 10 98155023 98155024 + Nonsense_Mutation DNP CG CG TT TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:98155023_98155024CG>TT uc001kml.1 - 13 1872_1873 c.1646_1647CG>AA c.(1645-1647)TCG>TAA p.S549* TLL2_uc009xvf.1_Nonsense_Mutation_p.S527* NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 549 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TGTTGGAGCTCGATTTCACATC 0.49 NaN 0 0 0 0.004672 0 18 40 TLL2 7093 broad.mit.edu 37 10 98155044 98155044 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:98155044C>G uc001kml.1 - 13 1852 c.1626G>C c.(1624-1626)GAG>GAC p.E542D TLL2_uc009xvf.1_Missense_Mutation_p.E520D NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 542 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCTCCGGCTTCTCATAGCCAC 0.502 NaN 0 0 0 0.013114 0 11 32 SEC31B 25956 broad.mit.edu 37 10 102267742 102267742 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:102267742G>C uc001krc.1 - 6 664 c.562C>G c.(562-564)CAC>GAC p.H188D SEC31B_uc010qpo.1_Missense_Mutation_p.H187D|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.H191D|SEC31B_uc009xwn.1_Missense_Mutation_p.H188D|SEC31B_uc009xwo.1_Missense_Mutation_p.H188D|SEC31B_uc010qpq.1_Missense_Mutation_p.H31D|SEC31B_uc010qpr.1_RNA NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 188 WD 3. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CCACTGGGGTGAGCAGAAGAC 0.512 NaN 0 0 0 0.01441 0 80 88 MMP21 118856 broad.mit.edu 37 10 127455472 127455472 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:127455472G>C uc001liu.2 - 7 1469 c.1469C>G c.(1468-1470)ACT>AGT p.T490S NM_147191 NP_671724 Q8N119 MMP21_HUMAN matrix metalloproteinase 21 preproprotein 490 Hemopexin-like 3. proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAAAACTTCAGTAATCCTCTT 0.333 NaN 0 0 0 0.001984 0 7 31 OR52B4 143496 broad.mit.edu 37 11 4388659 4388659 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:4388659C>T uc010qye.1 - 1 867 c.867G>A c.(865-867)CTG>CTA p.L289L NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 289 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) TAATGGGATTCAGCATAGGTG 0.418 NaN 0 0 0 0.001855 0 12 38 FAM160A2 84067 broad.mit.edu 37 11 6239209 6239209 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:6239209C>T uc001mcl.3 - 9 1966 c.1607G>A c.(1606-1608)CGA>CAA p.R536Q FAM160A2_uc001mck.3_Missense_Mutation_p.R550Q|FAM160A2_uc001mcm.2_Missense_Mutation_p.R536Q NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 536 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 GGTAGGCCGTCGGCCAGGGCT 0.657 NaN 0 0 0 0.004482 0 9 34 USP47 55031 broad.mit.edu 37 11 11913630 11913630 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:11913630C>G uc001mjq.1 + 5 1296 c.533C>G c.(532-534)TCT>TGT p.S178C USP47_uc001mjr.2_Missense_Mutation_p.S90C|USP47_uc001mjs.2_Missense_Mutation_p.S158C NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 178 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) TCCTACTCATCTATTTTGAAT 0.289 NaN 0 0 0 0.006122 0 17 148 FAR1 84188 broad.mit.edu 37 11 13732282 13732282 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:13732282G>A uc001mld.2 + 5 743 c.588G>A c.(586-588)TTG>TTA p.L196L FAR1_uc009ygp.2_Silent_p.L196L NM_032228 NP_115604 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 196 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding ovary(1)|skin(1) 2 CGCCAAAATTGATAGGAGACA 0.333 NaN 0 0 0 0.010504 0 18 176 FAR1 84188 broad.mit.edu 37 11 13732293 13732293 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:13732293G>A uc001mld.2 + 5 754 c.599G>A c.(598-600)AGA>AAA p.R200K FAR1_uc009ygp.2_Missense_Mutation_p.R200K NM_032228 NP_115604 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 200 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding ovary(1)|skin(1) 2 ATAGGAGACAGACCTAATACA 0.348 NaN 0 0 0 0.007413 0 17 173 FAR1 84188 broad.mit.edu 37 11 13733312 13733312 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:13733312G>C uc001mld.2 + 6 880 c.725G>C c.(724-726)GGA>GCA p.G242A FAR1_uc009ygp.2_Missense_Mutation_p.G242A NM_032228 NP_115604 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 242 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding ovary(1)|skin(1) 2 TGGTATTAGGGATGGATTGAT 0.294 NaN 0 0 0 0.004007 0 13 91 CAPRIN1 4076 broad.mit.edu 37 11 34113462 34113462 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:34113462A>G uc001mvh.1 + 15 1753 c.1564A>G c.(1564-1566)ATG>GTG p.M522V CAPRIN1_uc001mvg.2_Missense_Mutation_p.M522V|CAPRIN1_uc001mvi.2_Missense_Mutation_p.M522V|CAPRIN1_uc001mvj.1_Missense_Mutation_p.M441V NM_005898 NP_005889 Q14444 CAPR1_HUMAN membrane component chromosome 11 surface marker 522 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) GGTGTTCAATATGAATGCCCC 0.373 NaN 0 0 0 0.007413 0 15 52 PRDM11 56981 broad.mit.edu 37 11 45245797 45245797 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:45245797G>C uc001myo.2 + 8 1123 c.874G>C c.(874-876)GAG>CAG p.E292Q NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN PR domain containing 11 292 upper_aerodigestive_tract(1) 1 GGAGAAGTCTGAGCAGGTTCT 0.502 NaN 0 0 0 0.012213 0 26 138 KIAA0652 9776 broad.mit.edu 37 11 46679081 46679081 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:46679081G>C uc009yld.2 + 10 1288 c.604G>C c.(604-606)GAG>CAG p.E202Q KIAA0652_uc001nda.2_Missense_Mutation_p.E202Q|KIAA0652_uc001ndb.2_Missense_Mutation_p.E202Q|KIAA0652_uc001ncz.2_Missense_Mutation_p.E202Q|KIAA0652_uc001ndc.2_Missense_Mutation_p.E202Q|KIAA0652_uc010rgv.1_Missense_Mutation_p.E123Q NM_001142673 NP_001136145 O75143 ATG13_HUMAN autophagy-related protein 13 isoform 1 202 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding 0 GBM - Glioblastoma multiforme(35;0.226) CAGGCAATTTGAGAGGACCCC 0.488 NaN 0 0 0 0.014323 0 21 58 PTPRJ 5795 broad.mit.edu 37 11 48185099 48185099 + Silent SNP C C T rs2229704 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:48185099C>T uc001ngp.3 + 23 4003 c.3648C>T c.(3646-3648)ATC>ATT p.I1216I NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1216 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 ACCTGCTCATCAACTTCCGGT 0.547 NaN 0 0 0 0.008361 0 28 64 APLNR 187 broad.mit.edu 37 11 57003561 57003561 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:57003561G>A uc001njo.2 - 1 1367 c.918C>T c.(916-918)CCC>CCT p.P306P APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 306 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 CATAGAGGAAGGGGTTGAGGC 0.607 NaN 0 0 0 0.006214 0 8 44 FAM111B 374393 broad.mit.edu 37 11 58892744 58892744 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:58892744C>G uc001nnl.2 + 4 1417 c.1174C>G c.(1174-1176)CAA>GAA p.Q392E FAM111B_uc001nnm.2_Missense_Mutation_p.Q362E|FAM111B_uc010rko.1_Missense_Mutation_p.Q362E NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 392 catalytic activity ovary(2) 2 AAAGAATTATCAAACGTTGAA 0.388 NaN 0 0 0 0.016522 0 22 66 FAM111B 374393 broad.mit.edu 37 11 58893519 58893519 + Nonsense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:58893519C>G uc001nnl.2 + 4 2192 c.1949C>G c.(1948-1950)TCA>TGA p.S650* FAM111B_uc001nnm.2_Nonsense_Mutation_p.S620*|FAM111B_uc010rko.1_Nonsense_Mutation_p.S620* NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 650 catalytic activity ovary(2) 2 GATGGGTCCTCAGGCTCCCCA 0.398 NaN 0 0 0 0.013537 0 10 50 OR5A2 219981 broad.mit.edu 37 11 59190322 59190322 + Silent SNP G G C rs142339235 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:59190322G>C uc010rkt.1 - 1 105 c.105C>G c.(103-105)CTC>CTG p.L35L NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCAGGAGGTAGAGCCCCAGAA 0.448 NaN 0 0 0 0.004482 0 9 39 RARRES3 5920 broad.mit.edu 37 11 63312136 63312136 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:63312136G>A uc001nxf.3 + 3 230 c.162G>A c.(160-162)CTG>CTA p.L54L NM_004585 NP_004576 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene 54 lipid catabolic process|negative regulation of cell proliferation hydrolase activity ovary(1) 1 TCTCAGTCCTGAGCAACAGTG 0.582 NaN 0 0 0 0.013726 0 32 162 RELT 84957 broad.mit.edu 37 11 73102216 73102216 + Silent SNP C C T rs146023545 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:73102216C>T uc001otv.2 + 5 480 c.315C>T c.(313-315)CGC>CGT p.R105R RELT_uc001otw.2_Silent_p.R105R|RELT_uc009yto.1_Silent_p.R23R|RELT_uc001otx.2_5'Flank NM_152222 NP_689408 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor precursor 105 Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane binding|receptor activity upper_aerodigestive_tract(1) 1 GGGTTCCCCGCGTTCCATGTC 0.587 NaN 0 0 0 0.01441 0 51 91 FAT3 120114 broad.mit.edu 37 11 92534006 92534006 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:92534006C>T uc001pdj.3 + 9 7844 c.7827C>T c.(7825-7827)GTC>GTT p.V2609V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2609 Cadherin 24.|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) GAGCCAGTGTCAGGGCAGATG 0.468 NaN TCGA Ovarian(4;0.039) 0 0 0 0.001855 0 10 10 PVRL1 5818 broad.mit.edu 37 11 119545906 119545906 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:119545906G>A uc001pwv.2 - 5 1138 c.966C>T c.(964-966)ATC>ATT p.I322I PVRL1_uc001pwu.1_Silent_p.I322I|PVRL1_uc001pww.2_Silent_p.I322I NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 322 Extracellular (Potential).|Ig-like C2-type 2. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) AGCGTGTACCGATGGGGTTGG 0.602 NaN 0 0 0 0.010729 0 11 28 TBCEL 219899 broad.mit.edu 37 11 120918374 120918374 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:120918374G>A uc009zay.2 + 3 349 c.271G>A c.(271-273)GAG>AAG p.E91K TBCEL_uc001pxo.2_Missense_Mutation_p.E91K|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_RNA NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 91 LRR 1. cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) AGACTGGCATGAGGTGAAGTT 0.368 NaN 0 0 0 0.004482 0 8 11 IGSF9B 22997 broad.mit.edu 37 11 133792552 133792552 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:133792552G>A uc001qgx.3 - 16 2424 c.2193C>T c.(2191-2193)ATC>ATT p.I731I IGSF9B_uc001qgy.1_Silent_p.I573I NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 731 Helical; (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) CCAAGAAGCAGATGGTAGCTA 0.607 NaN 0 0 0 0.009096 0 4 5 IQSEC3 440073 broad.mit.edu 37 12 176472 176472 + Translation_Start_Site SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:176472C>G uc001qht.1 + 1 270 c.-230C>G c.(-232--228)ATCTG>ATGTG NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CCACAAGCATCTGGGGACACA 0.697 NaN 0 0 0 0.009096 0 3 31 KCNA5 3741 broad.mit.edu 37 12 5154121 5154121 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:5154121G>C uc001qni.2 + 1 1037 c.808G>C c.(808-810)GAG>CAG p.E270Q NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 270 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 CTTCTGCTTGGAGACCCTGCC 0.657 NaN 0 0 0 0.008361 0 29 95 CLEC1B 51266 broad.mit.edu 37 12 10145870 10145870 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:10145870C>G uc001qwu.2 - 6 762 c.562G>C c.(562-564)GAT>CAT p.D188H CLEC1B_uc009zhd.2_Missense_Mutation_p.D155H NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 188 C-type lectin.|Extracellular (Potential). D->A: Significant reduction in rhodocytin binding. cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 CCTTTTCCATCTTCCAAAAAC 0.358 NaN 0 0 0 0.010504 0 19 37 TAS2R31 259290 broad.mit.edu 37 12 11183791 11183791 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:11183791G>C uc001qzo.1 - 1 216 c.144C>G c.(142-144)CTC>CTG p.L48L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176885 NP_795366 P59538 T2R31_HUMAN taste receptor, type 2, member 31 48 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 CCAGAGCAGTGAGAATCTGGT 0.368 NaN 0 0 0 0.007413 0 16 71 SLCO1B1 10599 broad.mit.edu 37 12 21325679 21325679 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:21325679G>C uc001req.3 + 3 284 c.180G>C c.(178-180)GAG>GAC p.E60D NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 60 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) GGAGATTTGAGATATCCTCTT 0.313 NaN 0 0 0 0.014758 0 4 17 KIAA0528 9847 broad.mit.edu 37 12 22659717 22659717 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:22659717C>T uc001rfq.2 - 10 1303 c.1075G>A c.(1075-1077)GGA>AGA p.G359R KIAA0528_uc010sir.1_Missense_Mutation_p.G152R|KIAA0528_uc010sis.1_Missense_Mutation_p.G359R|KIAA0528_uc010sit.1_Missense_Mutation_p.G361R|KIAA0528_uc010siu.1_Missense_Mutation_p.G359R|KIAA0528_uc001rfr.2_Missense_Mutation_p.G350R|KIAA0528_uc009ziy.1_Missense_Mutation_p.G361R NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 359 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 ACAAGGAATCCAGGAGGAAAT 0.373 NaN 0 0 0 0.006122 0 16 65 ARNTL2 56938 broad.mit.edu 37 12 27521207 27521207 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:27521207G>C uc001rht.1 + 2 62 c.44G>C c.(43-45)AGA>ACA p.R15T ARNTL2_uc001rhw.2_Missense_Mutation_p.R26T|ARNTL2_uc010sjp.1_Missense_Mutation_p.R26T|ARNTL2_uc001rhu.1_Missense_Mutation_p.R15T|ARNTL2_uc009zji.1_Missense_Mutation_p.R15T|ARNTL2_uc001rhv.1_Missense_Mutation_p.R15T NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 15 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) AAAGTGTTGAGAGAGGAGAAC 0.413 NaN 0 0 0 0.004007 0 11 46 DDX11 1663 broad.mit.edu 37 12 31256888 31256888 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:31256888G>A uc001rjt.1 + 27 3085 c.2834G>A c.(2833-2835)AGA>AAA p.R945K DDX11_uc001rjr.1_3'UTR|DDX11_uc001rjs.1_3'UTR|DDX11_uc001rju.1_3'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R945K|DDX11_uc001rjw.1_3'UTR|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_Missense_Mutation_p.R114K NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 945 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CCCAGGAGGAGAGTGTGGAGT 0.602 NaN Multiple Myeloma(12;0.14) 0 0 0 0.009096 0 4 6 LRRK2 120892 broad.mit.edu 37 12 40637439 40637439 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:40637439G>A uc001rmg.3 + 7 915 c.794G>A c.(793-795)AGA>AAA p.R265K NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 265 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) ATGAGTGAAAGAATTCAAGAA 0.353 NaN 0 0 0 0.004007 0 16 103 SLC38A2 54407 broad.mit.edu 37 12 46761069 46761069 + Silent SNP C C T rs61761952 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:46761069C>T uc001rpg.2 - 5 809 c.369G>A c.(367-369)TTG>TTA p.L123L SLC38A2_uc010sli.1_5'Flank|SLC38A2_uc001rph.2_Silent_p.L23L NM_018976 NP_061849 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 123 Helical; (Potential). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity urinary_tract(1)|skin(1) 2 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) TGGCAGTCTTCAAAAGGAGAT 0.338 NaN 0 0 0 0.00333 0 21 107 MLL2 8085 broad.mit.edu 37 12 49434740 49434740 + Silent SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:49434740G>T uc001rta.3 - 31 6813 c.6813C>A c.(6811-6813)CCC>CCA p.P2271P NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2271 Pro-rich. 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 GCGAGAGCAGGGGCTCGGAAG 0.632 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 1 0 3.86212e-05 0.008291 4.00269e-05 7 38 DAZAP2 9802 broad.mit.edu 37 12 51634657 51634657 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:51634657C>T uc010snd.1 + 3 319 c.135C>T c.(133-135)CTC>CTT p.L45L DAZAP2_uc001ryb.2_Silent_p.L45L|DAZAP2_uc010snc.1_Intron|DAZAP2_uc010sne.1_Intron|DAZAP2_uc010snf.1_Silent_p.L45L NM_001136266 NP_001129738 Q15038 DAZP2_HUMAN DAZ associated protein 2 isoform c 45 Pro-rich. WW domain binding 0 TCTTCTAGCTCTATCGTCCGA 0.473 NaN 0 0 0 0.012319 0 17 71 GALNT6 11226 broad.mit.edu 37 12 51759227 51759227 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:51759227G>A uc001ryk.2 - 4 1026 c.801C>T c.(799-801)TTC>TTT p.F267F GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.F267F NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 267 Catalytic subdomain A.|Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 GGGCATCCAGGAACGTGAGCA 0.687 NaN 0 0 0 0.014758 0 4 51 TENC1 23371 broad.mit.edu 37 12 53444019 53444019 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:53444019G>A uc001sbp.2 + 1 185 c.50G>A c.(49-51)AGG>AAG p.R17K uc001sbk.1_Intron|TENC1_uc001sbl.2_Intron|TENC1_uc001sbm.2_Intron|TENC1_uc001sbn.2_Intron|TENC1_uc001sbo.1_Missense_Mutation_p.R17K NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 17 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 CTGGGGAGGAGGGACAGCAGC 0.692 NaN 0 0 0 0.014758 0 4 11 KIAA0748 9840 broad.mit.edu 37 12 55356465 55356465 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:55356465G>A uc001sgn.3 - 9 1327 c.1217C>T c.(1216-1218)CCA>CTA p.P406L KIAA0748_uc001sgl.3_Missense_Mutation_p.P268L|KIAA0748_uc001sgm.3_Missense_Mutation_p.P153L|KIAA0748_uc010spb.1_Missense_Mutation_p.P153L|KIAA0748_uc010spc.1_Missense_Mutation_p.P268L|KIAA0748_uc010spd.1_Missense_Mutation_p.P406L|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 406 ovary(1)|central_nervous_system(1) 2 TATCTGAGCTGGGTCTGTGCT 0.507 NaN 0 0 0 0.00874 0 39 65 OR6C3 254786 broad.mit.edu 37 12 55725670 55725670 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:55725670C>T uc010spj.1 + 1 186 c.186C>T c.(184-186)AAC>AAT p.N62N NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCCTCCGGAACTTCTCTTTCT 0.403 NaN 0 0 0 0.014323 0 21 91 SILV 6490 broad.mit.edu 37 12 56351375 56351375 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:56351375G>A uc001sip.2 - 6 743 c.712C>T c.(712-714)CTG>TTG p.L238L SILV_uc001siq.2_Silent_p.L238L|SILV_uc010spx.1_Silent_p.L152L|SILV_uc001sir.2_Silent_p.L238L NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 238 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 GCAAAGGTCAGAGGCTGATTT 0.562 NaN 0 0 0 0.011902 0 38 114 ERBB3 2065 broad.mit.edu 37 12 56480410 56480410 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:56480410G>A uc001sjh.2 + 4 710 c.517G>A c.(517-519)GAG>AAG p.E173K ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.E114K|ERBB3_uc001sji.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 173 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CCGAGATGCTGAGATAGTGGT 0.493 NaN 0 0 0 0.01441 0 44 102 TRHDE 29953 broad.mit.edu 37 12 72666768 72666768 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:72666768G>C uc001sxa.2 + 1 240 c.210G>C c.(208-210)GCG>GCC p.A70A LOC283392_uc010stv.1_5'UTR NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 70 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 AGTGCGGGGCGAGTGCCACGC 0.706 NaN 0 0 0 0.009096 0 4 4 GLIPR1L1 256710 broad.mit.edu 37 12 75728668 75728668 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:75728668G>A uc001sxo.2 + 1 206 c.160G>A c.(160-162)GAC>AAC p.D54N CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Missense_Mutation_p.D54N NM_152779 NP_689992 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 54 extracellular region 0 TCCCGCGGCCGACATGAAATA 0.473 NaN OREG0021998 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004007 0 15 46 LRRIQ1 84125 broad.mit.edu 37 12 85434370 85434370 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:85434370G>A uc001tac.2 + 3 346 c.235G>A c.(235-237)GAT>AAT p.D79N LRRIQ1_uc001tab.1_Missense_Mutation_p.D79N|LRRIQ1_uc001taa.1_Missense_Mutation_p.D79N|LRRIQ1_uc001tad.2_5'UTR NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 79 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) GGAAGATACTGATATTTTAAG 0.313 NaN 0 0 0 0.013537 0 9 54 NT5DC3 51559 broad.mit.edu 37 12 104190738 104190738 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:104190738G>A uc010swe.1 - 6 728 c.687C>T c.(685-687)TGC>TGT p.C229C NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 229 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 ATTCATTCACGCAGGACAGGA 0.478 NaN 0 0 0 0.010504 0 20 103 TCP11L2 255394 broad.mit.edu 37 12 106740114 106740114 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:106740114C>G uc001tln.2 + 10 1540 c.1366C>G c.(1366-1368)CAA>GAA p.Q456E NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN t-complex 11 (mouse) like 2 456 ovary(3) 3 TCCAAGCCCTCAAAAATGCAT 0.398 NaN 0 0 0 0.010729 0 12 21 TCP11L2 255394 broad.mit.edu 37 12 106740204 106740204 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:106740204C>T uc001tln.2 + 10 1630 c.1456C>T c.(1456-1458)CTC>TTC p.L486F NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN t-complex 11 (mouse) like 2 486 ovary(3) 3 CATTGTGAATCTCAACAAACA 0.453 NaN 0 0 0 0.00308 0 7 36 PRDM4 11108 broad.mit.edu 37 12 108145485 108145485 + Missense_Mutation SNP T T A rs148244009 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:108145485T>A uc001tmp.2 - 5 1270 c.833A>T c.(832-834)AAT>ATT p.N278I PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 278 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 AGACATGCCATTGACCCGACT 0.557 NaN 0 0 0 0.00245 0 11 40 VSIG10 54621 broad.mit.edu 37 12 118533368 118533368 + Nonsense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:118533368G>A uc001tws.2 - 2 665 c.331C>T c.(331-333)CAG>TAG p.Q111* NM_019086 NP_061959 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 111 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane 0 TGGAACCACTGAGTCACATTC 0.577 NaN 0 0 0 0.004656 0 21 133 CIT 11113 broad.mit.edu 37 12 120173111 120173111 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:120173111C>T uc001txi.1 - 24 2937 c.2884G>A c.(2884-2886)GAA>AAA p.E962K CIT_uc001txh.1_Missense_Mutation_p.E496K|CIT_uc001txj.1_Missense_Mutation_p.E1004K NM_007174 NP_009105 O14578 CTRO_HUMAN citron 962 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TTGTTGAGTTCAGCGTTGTCC 0.478 NaN 0 0 0 0.008291 0 10 87 GATC 283459 broad.mit.edu 37 12 120884567 120884567 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:120884567C>T uc010szi.1 + 2 189 c.189C>T c.(187-189)TTC>TTT p.F63F TRIAP1_uc001tyg.2_5'Flank NM_176818 NP_789788 O43716 GATCL_HUMAN glutamyl-tRNA(Gln) amidotransferase, subunit C 63 regulation of translational fidelity 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTATCGCCTTCGCCGACCGGC 0.667 NaN 0 0 0 0.00245 0 12 29 RNF10 9921 broad.mit.edu 37 12 120995453 120995453 + Nonsense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:120995453G>A uc001typ.3 + 6 1418 c.935G>A c.(934-936)TGG>TAG p.W312* RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Nonsense_Mutation_p.W218* NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 312 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAATCCAAATGGATGAATGTA 0.413 NaN 0 0 0 0.016522 0 21 93 BRI3BP 140707 broad.mit.edu 37 12 125509837 125509837 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:125509837G>A uc001uha.1 + 3 760 c.617G>A c.(616-618)CGA>CAA p.R206Q NM_080626 NP_542193 Q8WY22 BRI3B_HUMAN BRI3-binding protein 206 integral to membrane|mitochondrial outer membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) TTCTACTGGCGAAGCAGTCCC 0.542 NaN 0 0 0 0.014758 0 3 19 RIMBP2 23504 broad.mit.edu 37 12 130919336 130919336 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:130919336G>A uc001uil.2 - 11 2309 c.2145C>T c.(2143-2145)TTC>TTT p.F715F RIMBP2_uc001uim.2_Silent_p.F623F|RIMBP2_uc001uin.1_Silent_p.F374F NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 715 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CCCTCCTCTTGAAGTCTGGAG 0.612 NaN 0 0 0 0.00308 0 7 67 EP400 57634 broad.mit.edu 37 12 132502128 132502128 + Silent SNP C C T rs138508770 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:132502128C>T uc001ujn.2 + 19 4007 c.3972C>T c.(3970-3972)ATC>ATT p.I1324I EP400_uc001ujl.2_Silent_p.I1323I|EP400_uc001ujm.2_Silent_p.I1324I NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1360 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TCCTGAGCATCCTTGTGCGGC 0.607 NaN 0 0 0 0.009535 0 28 59 EP400 57634 broad.mit.edu 37 12 132522554 132522554 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:132522554G>A uc001ujn.2 + 31 6155 c.6120G>A c.(6118-6120)CCG>CCA p.P2040P EP400_uc001ujl.2_Silent_p.P2039P|EP400_uc001ujm.2_Silent_p.P1959P NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2076 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTGGCTTCCCGGTCAAAGCTG 0.463 NaN 0 0 0 0.01441 0 49 82 RB1 5925 broad.mit.edu 37 13 49039354 49039354 + Nonsense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr13:49039354C>A uc001vcb.2 + 23 2505 c.2339C>A c.(2338-2340)TCA>TAA p.S780* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 780 Interaction with LIMD1.|Domain C; mediates interaction with E4F1. 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) CCTACCTTGTCACCAATACCT 0.388 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) 1 0 1.00798e-23 0.01441 1.08413e-23 46 67 PCDH17 27253 broad.mit.edu 37 13 58208645 58208645 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr13:58208645G>A uc001vhq.1 + 1 2857 c.1965G>A c.(1963-1965)GTG>GTA p.V655V PCDH17_uc010aec.1_Silent_p.V655V NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 655 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) GGGAGGACGTGACGCCCGTGG 0.637 NaN 0 0 0 0.01441 0 61 107 CUL4A 8451 broad.mit.edu 37 13 113900284 113900284 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr13:113900284G>T uc010tjy.1 + 16 1556 c.1545G>T c.(1543-1545)CAG>CAT p.Q515H CUL4A_uc010tjx.1_Missense_Mutation_p.Q415H|CUL4A_uc010agu.2_Missense_Mutation_p.Q376H|CUL4A_uc010tjz.1_Missense_Mutation_p.Q194H NM_001008895 NP_001008895 Q13619 CUL4A_HUMAN cullin 4A isoform 1 515 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding central_nervous_system(2)|skin(1) 3 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) TGCAGAATCAGAGTGACTCAG 0.383 NaN 1 0 2.27111e-07 0.013537 2.38114e-07 10 26 RNASE3 6037 broad.mit.edu 37 14 21360150 21360150 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:21360150G>T uc001vyj.2 + 2 359 c.305G>T c.(304-306)AGA>ATA p.R102I NM_002935 NP_002926 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 (eosinophil 102 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) CATCGGAGTAGATTCCGGGTG 0.418 NaN 1 0 2.05212e-20 0.005524 2.19841e-20 34 67 MYH7 4625 broad.mit.edu 37 14 23886487 23886487 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:23886487G>A uc001wjx.2 - 32 4500 c.4394C>T c.(4393-4395)TCG>TTG p.S1465L NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1465 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCCAGCTCCGACTGCGACTC 0.602 NaN 0 0 0 0.00333 0 23 64 REC8 9985 broad.mit.edu 37 14 24647296 24647296 + Splice_Site SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:24647296G>C uc001wmr.2 + 14 1292 c.865_splice c.e14-1 p.R289_splice REC8_uc001wms.2_Splice_Site_p.R289_splice NM_005132 NP_005123 O95072 REC8_HUMAN REC8 homolog mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm 0 GBM - Glioblastoma multiforme(265;0.00839) CCACTCAACAGAGGAGGCCCC 0.622 NaN 0 0 0 0.008871 0 16 49 EAPP 55837 broad.mit.edu 37 14 35008795 35008795 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:35008795C>T uc001wsd.1 - 1 149 c.40G>A c.(40-42)GAA>AAA p.E14K NM_018453 NP_060923 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 14 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane ovary(1) 1 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) CTAGGCTCTTCAACCGCGTAG 0.627 NaN 0 0 0 0.00308 0 6 26 YLPM1 56252 broad.mit.edu 37 14 75230697 75230697 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:75230697C>T uc001xqj.3 + 1 629 c.505C>T c.(505-507)CAG>TAG p.Q169* NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GCCCCCACCTCAGCCGCCACC 0.622 NaN 0 0 0 0.004482 0 9 17 POMT2 29954 broad.mit.edu 37 14 77772681 77772681 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:77772681C>G uc001xti.2 - 3 638 c.437G>C c.(436-438)GGA>GCA p.G146A POMT2_uc010asr.2_Missense_Mutation_p.G35A NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 146 Helical; (Potential). protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) AAGCCTTACTCCTCTCATTCC 0.483 NaN 0 0 0 0.013537 0 12 35 TSHR 7253 broad.mit.edu 37 14 81609785 81609785 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:81609785C>G uc001xvd.1 + 10 1539 c.1383C>G c.(1381-1383)TTC>TTG p.F461L NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 461 Helical; Name=2; (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TTGCGGATTTCTGCATGGGGA 0.542 NaN Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 0 0 0 0.015359 0 31 86 ZC3H14 79882 broad.mit.edu 37 14 89038435 89038435 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:89038435G>C uc001xww.2 + 5 522 c.297G>C c.(295-297)AAG>AAC p.K99N ZC3H14_uc010twd.1_Missense_Mutation_p.K99N|ZC3H14_uc010twe.1_Missense_Mutation_p.K99N|ZC3H14_uc001xwx.2_Missense_Mutation_p.K99N|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Missense_Mutation_p.K65N|ZC3H14_uc010twg.1_5'Flank NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 99 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 CTTCAAACAAGAGCAATTTCA 0.413 NaN 0 0 0 0.008871 0 18 77 SERPINA10 51156 broad.mit.edu 37 14 94754876 94754876 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:94754876C>G uc001yct.2 - 3 1205 c.739G>C c.(739-741)GAC>CAC p.D247H SERPINA10_uc001ycu.3_Missense_Mutation_p.D247H NM_016186 NP_057270 Q9UK55 ZPI_HUMAN serine (or cysteine) proteinase inhibitor, clade 247 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) AAGACAGGGTCAAATGGGGTC 0.453 NaN 0 0 0 0.007291 0 25 83 SETD3 84193 broad.mit.edu 37 14 99871626 99871626 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:99871626C>T uc001ygc.2 - 10 1177 c.1007G>A c.(1006-1008)AGA>AAA p.R336K NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 336 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) TATTTTCACTCTGTCGTGTGA 0.438 NaN 0 0 0 0.00632 0 29 62 ARHGAP11B 89839 broad.mit.edu 37 15 30926523 30926523 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:30926523G>A uc001zet.1 + 4 593 c.448G>A c.(448-450)GAG>AAG p.E150K ARHGAP11B_uc010azv.1_RNA|ARHGAP11B_uc001zeu.2_RNA NM_001039841 NP_001034930 Q3KRB8 RHGBB_HUMAN Rho GTPase activating protein 11B 150 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 all_lung(180;2.71e-09)|Breast(32;0.00116) 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) GTTAGGCACAGAGGAAAAGAA 0.413 NaN 0 0 0 0.010504 0 15 57 TRPM1 4308 broad.mit.edu 37 15 31318357 31318357 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:31318357C>A uc001zfm.2 - 26 3676 c.3548G>T c.(3547-3549)CGG>CTG p.R1183L TRPM1_uc010azy.2_Missense_Mutation_p.R1090L|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1183 Potential.|Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AGAAGTGACCCGGATGCGCTC 0.622 NaN 1 0 2.31682e-05 0.003163 2.40576e-05 14 38 CAPN3 825 broad.mit.edu 37 15 42703970 42703970 + Nonstop_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:42703970G>C uc001zpn.1 + 24 2771 c.2465G>C c.(2464-2466)TGA>TCA p.*822S CAPN3_uc001zpk.1_Nonstop_Mutation_p.*589S|CAPN3_uc001zpl.1_Nonstop_Mutation_p.*729S|CAPN3_uc010udf.1_Nonstop_Mutation_p.*735S|CAPN3_uc010udg.1_Nonstop_Mutation_p.*687S|CAPN3_uc001zpo.1_Nonstop_Mutation_p.*816S|CAPN3_uc001zpp.1_Nonstop_Mutation_p.*730S|CAPN3_uc001zpq.1_Nonstop_Mutation_p.*310S|CAPN3_uc010bcv.1_Intron|CAPN3_uc001zpr.1_Nonstop_Mutation_p.*157S|CAPN3_uc001zps.1_Nonstop_Mutation_p.*157S|CAPN3_uc001zpt.1_Nonstop_Mutation_p.*157S NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 822 muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) ATGTATGCCTGAACCAGGCTG 0.517 NaN 0 0 0 0.00308 0 6 49 IGDCC4 57722 broad.mit.edu 37 15 65681731 65681731 + Silent SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:65681731G>T uc002aou.1 - 14 2637 c.2427C>A c.(2425-2427)CTC>CTA p.L809L IGDCC4_uc002aot.1_Silent_p.L397L NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 809 Fibronectin type-III 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 AGCCGCCAATGAGGATGTCTT 0.562 NaN 1 0 0.000274275 0.004482 0.000282634 7 51 SMAD3 4088 broad.mit.edu 37 15 67457635 67457635 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:67457635G>A uc002aqj.2 + 3 743 c.445G>A c.(445-447)GAG>AAG p.E149K SMAD3_uc010ujr.1_Missense_Mutation_p.E44K|SMAD3_uc010ujs.1_Missense_Mutation_p.E105K|SMAD3_uc010ujt.1_5'Flank NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 149 Linker. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GATCCCGGCCGAGTTCCCCCC 0.602 NaN 0 0 0 0.008361 0 31 153 SMAD3 4088 broad.mit.edu 37 15 67473650 67473650 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:67473650G>A uc002aqj.2 + 6 1028 c.730G>A c.(730-732)GTC>ATC p.V244I SMAD3_uc010ujr.1_Missense_Mutation_p.V139I|SMAD3_uc010ujs.1_Missense_Mutation_p.V200I|SMAD3_uc010ujt.1_Missense_Mutation_p.V49I NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 244 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GAACCAGCGCGTCGGGGAGAC 0.607 NaN 0 0 0 0.006214 0 8 52 LMAN1L 79748 broad.mit.edu 37 15 75112416 75112416 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:75112416C>T uc002ayt.1 + 7 752 c.750C>T c.(748-750)TTC>TTT p.F250F LMAN1L_uc010bkd.2_3'UTR|LMAN1L_uc010ulo.1_3'UTR|LMAN1L_uc010bke.1_Intron NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 250 Lumenal (Potential).|L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 TCCTGACCTTCAGCCTGAGTG 0.612 NaN 0 0 0 0.012319 0 17 100 TBC1D2B 23102 broad.mit.edu 37 15 78346479 78346479 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:78346479C>T uc002bcy.3 - 2 411 c.411G>A c.(409-411)AAG>AAA p.K137K TBC1D2B_uc010bla.2_Silent_p.K137K NM_144572 NP_653173 Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B isoform a 137 PH. intracellular protein binding|Rab GTPase activator activity ovary(1)|large_intestine(1)|breast(1) 3 ATTCCCATCTCTTCTGCTGAA 0.468 NaN 0 0 0 0.001855 0 12 45 WDR90 197335 broad.mit.edu 37 16 716290 716290 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:716290C>T uc002cii.1 + 37 4734 c.4680C>T c.(4678-4680)TTC>TTT p.F1560F WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Silent_p.F175F|WDR90_uc010uul.1_Silent_p.F159F|WDR90_uc002cio.1_Silent_p.F159F|WDR90_uc010bqx.1_Silent_p.F159F|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1560 WD 19. ovary(1) 1 Hepatocellular(780;0.0218) GGACAACCTTCCGTGTGCTGA 0.627 NaN 0 0 0 0.004007 0 13 44 CCNF 899 broad.mit.edu 37 16 2495468 2495468 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:2495468G>A uc002cqd.1 + 10 1027 c.939G>A c.(937-939)CTG>CTA p.L313L CCNF_uc002cqe.1_Silent_p.L5L NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 313 Cyclin N-terminal. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) GGTACATTCTGATCGACTGGC 0.592 NaN 0 0 0 0.016522 0 17 92 PRSS21 10942 broad.mit.edu 37 16 2871063 2871063 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:2871063G>A uc002crt.2 + 5 764 c.658G>A c.(658-660)GAC>AAC p.D220N PRSS21_uc002crs.2_Missense_Mutation_p.D218N|PRSS21_uc002crr.2_Missense_Mutation_p.D220N NM_006799 NP_006790 Q9Y6M0 TEST_HUMAN testisin isoform 1 220 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity ovary(1)|skin(1) 2 CATCTTTGGAGACATGGTTTG 0.537 NaN 0 0 0 0.01441 0 54 206 UBN1 29855 broad.mit.edu 37 16 4924307 4924307 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4924307G>C uc002cyb.2 + 15 2235 c.1896G>C c.(1894-1896)CTG>CTC p.L632L UBN1_uc010uxw.1_Silent_p.L632L|UBN1_uc002cyc.2_Silent_p.L632L NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 632 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 CAGGAGGCCTGAGTATTGGGG 0.542 NaN 0 0 0 0.00333 0 21 98 UBN1 29855 broad.mit.edu 37 16 4924679 4924679 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4924679G>C uc002cyb.2 + 15 2607 c.2268G>C c.(2266-2268)GAG>GAC p.E756D UBN1_uc010uxw.1_Missense_Mutation_p.E756D|UBN1_uc002cyc.2_Missense_Mutation_p.E756D NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 756 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 AAAAACCAGAGAGTTCTGGCT 0.552 NaN 0 0 0 0.007413 0 17 58 UBN1 29855 broad.mit.edu 37 16 4927465 4927465 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4927465G>C uc002cyb.2 + 17 3684 c.3345G>C c.(3343-3345)CAG>CAC p.Q1115H UBN1_uc010uxw.1_Intron|UBN1_uc002cyc.2_Missense_Mutation_p.Q1115H NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 1115 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 ATATCCCGCAGAGTCTGCCAG 0.642 NaN 0 0 0 0.00632 0 27 140 PPL 5493 broad.mit.edu 37 16 4933975 4933975 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4933975G>A uc002cyd.1 - 22 4771 c.4681C>T c.(4681-4683)CTG>TTG p.L1561L NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1561 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 TCTTCCCTCAGAAAGTCTAGT 0.552 NaN 0 0 0 0.00245 0 13 65 PPL 5493 broad.mit.edu 37 16 4934725 4934725 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4934725G>A uc002cyd.1 - 22 4021 c.3931C>T c.(3931-3933)CTG>TTG p.L1311L NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1311 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 TTTGCCCTCAGAGACGCCACC 0.557 NaN 0 0 0 0.00632 0 24 92 PPL 5493 broad.mit.edu 37 16 4934737 4934737 + Nonsense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4934737C>A uc002cyd.1 - 22 4009 c.3919G>T c.(3919-3921)GAG>TAG p.E1307* NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1307 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GACGCCACCTCCTCCTTGGTT 0.537 NaN 1 0 6.94344e-10 0.006122 7.35108e-10 18 86 C16orf72 29035 broad.mit.edu 37 16 9210534 9210534 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:9210534G>A uc002czm.2 + 4 958 c.593G>A c.(592-594)GGT>GAT p.G198D NM_014117 NP_054836 Q14CZ0 CP072_HUMAN hypothetical protein LOC29035 198 large_intestine(1) 1 GGTCTTAGTGGTGCAATGGCT 0.428 NaN 0 0 0 0.01441 0 404 92 MYH11 4629 broad.mit.edu 37 16 15809038 15809038 + Missense_Mutation SNP C C T rs148743922 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:15809038C>T uc002ddy.2 - 39 5703 c.5596G>A c.(5596-5598)GAG>AAG p.E1866K MYH11_uc002ddv.2_Missense_Mutation_p.E1873K|MYH11_uc002ddw.2_Missense_Mutation_p.E1866K|MYH11_uc002ddx.2_Missense_Mutation_p.E1873K|MYH11_uc010bvg.2_Missense_Mutation_p.E1698K|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.E572K NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1866 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TTGTACTGCTCGGCCATCTTG 0.622 NaN T CBFB AML 0 0 0 0.003163 0 13 97 ABCC1 4363 broad.mit.edu 37 16 16110412 16110412 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:16110412C>T uc010bvi.2 + 5 724 c.549C>T c.(547-549)CTC>CTT p.L183L ABCC1_uc010bvj.2_Silent_p.L183L|ABCC1_uc010bvk.2_Silent_p.L183L|ABCC1_uc010bvl.2_Silent_p.L183L|ABCC1_uc010bvm.2_Silent_p.L183L|ABCC1_uc002del.3_Silent_p.L67L|ABCC1_uc010bvn.2_Silent_p.L46L NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 183 Helical; Name=5. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCCTCTTACTCATTCAGCTCG 0.493 NaN 0 0 0 0.01441 0 53 276 ABCC1 4363 broad.mit.edu 37 16 16138333 16138333 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:16138333C>T uc010bvi.2 + 8 1011 c.836C>T c.(835-837)TCC>TTC p.S279F ABCC1_uc010bvj.2_Missense_Mutation_p.S279F|ABCC1_uc010bvk.2_Missense_Mutation_p.S279F|ABCC1_uc010bvl.2_Missense_Mutation_p.S279F|ABCC1_uc010bvm.2_Missense_Mutation_p.S279F|ABCC1_uc002del.3_Missense_Mutation_p.S163F|ABCC1_uc010bvn.2_Missense_Mutation_p.S142F NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 279 Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTGTACTCCTCCAAGGATCCT 0.587 NaN 0 0 0 0.010729 0 10 49 SMG1 23049 broad.mit.edu 37 16 18853033 18853033 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:18853033C>T uc002dfm.2 - 41 6913 c.6550G>A c.(6550-6552)GAA>AAA p.E2184K SMG1_uc010bwb.2_Missense_Mutation_p.E2044K|SMG1_uc010bwa.2_Missense_Mutation_p.E915K|SMG1_uc002dfo.3_Missense_Mutation_p.E482K NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2184 PI3K/PI4K. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 CGGGGTGTTTCTTGGCGATTA 0.413 NaN 0 0 0 0.01441 0 115 164 DNAH3 55567 broad.mit.edu 37 16 21082053 21082053 + Missense_Mutation SNP T T A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:21082053T>A uc010vbe.1 - 22 3179 c.3179A>T c.(3178-3180)AAA>ATA p.K1060I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1060 Stem (By similarity). 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) TTCTATTGGTTTGATGAATGG 0.433 NaN 0 0 0 0.00333 0 24 148 IL21R 50615 broad.mit.edu 37 16 27460069 27460069 + Nonsense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:27460069C>G uc002doq.1 + 9 1315 c.1082C>G c.(1081-1083)TCA>TGA p.S361* IL21R_uc002dor.1_Nonsense_Mutation_p.S361*|IL21R_uc002dos.1_Nonsense_Mutation_p.S361*|uc002dot.2_RNA NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 361 Cytoplasmic (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 TCGGGGGGCTCAGCTTACAGT 0.617 NaN T BCL6 NHL 0 0 0 0.007413 0 13 64 HIRIP3 8479 broad.mit.edu 37 16 30005479 30005479 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:30005479C>T uc002dve.2 - 4 1448 c.987G>A c.(985-987)TTG>TTA p.L329L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron NM_003609 NP_003600 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 329 chromatin assembly or disassembly nucleus protein binding central_nervous_system(1) 1 TGCTTCCACTCAACCTCTTCC 0.572 NaN 0 0 0 0.009535 0 27 80 MYLPF 29895 broad.mit.edu 37 16 30388008 30388008 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:30388008C>G uc002dxv.1 + 5 401 c.345C>G c.(343-345)ATC>ATG p.I115M NM_013292 NP_037424 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast 115 EF-hand 2. skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle 0 Colorectal(24;0.193) AGGGCACCATCAAGAAGAAGT 0.567 NaN 0 0 0 0.004672 0 3 19 SRCAP 10847 broad.mit.edu 37 16 30749040 30749040 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:30749040C>G uc002dze.1 + 34 8064 c.7679C>G c.(7678-7680)TCT>TGT p.S2560C SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.S2355C NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2560 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GCATTGGCATCTCCAGAGTCC 0.562 NaN 0 0 0 0.00499 0 17 43 RSPRY1 89970 broad.mit.edu 37 16 57250818 57250818 + Nonsense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:57250818G>T uc002elb.2 + 8 1050 c.772G>T c.(772-774)GAA>TAA p.E258* RSPRY1_uc002elc.2_Nonsense_Mutation_p.E258*|RSPRY1_uc002eld.2_Nonsense_Mutation_p.E258* NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 258 extracellular region zinc ion binding ovary(1) 1 CCAAACAGGTGAAAATAAATT 0.378 NaN 1 0 8.00594e-06 0.007413 8.32926e-06 16 78 DOK4 55715 broad.mit.edu 37 16 57508744 57508744 + Missense_Mutation SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:57508744T>C uc010cdb.2 - 5 858 c.560A>G c.(559-561)TAT>TGT p.Y187C DOK4_uc002elu.1_Missense_Mutation_p.Y187C|DOK4_uc002elv.3_Missense_Mutation_p.Y187C NM_018110 NP_060580 Q8TEW6 DOK4_HUMAN docking protein 4 187 IRS-type PTB. insulin receptor binding skin(1) 1 ATCCCGGCCATAGCGGCGCAG 0.597 NaN 0 0 0 0.004007 0 12 35 KATNB1 10300 broad.mit.edu 37 16 57789144 57789144 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:57789144C>T uc002eml.1 + 15 1784 c.1410C>T c.(1408-1410)TTC>TTT p.F470F NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN katanin p80 subunit B 1 470 Interaction with KATNA1 and NDEL1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity 0 all_neural(199;0.223) CCTCCGACTTCCTGCCCGTGA 0.662 NaN 0 0 0 0.014758 0 3 13 KATNB1 10300 broad.mit.edu 37 16 57789809 57789809 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:57789809G>C uc002eml.1 + 17 1997 c.1623G>C c.(1621-1623)CTG>CTC p.L541L NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN katanin p80 subunit B 1 541 Interaction with KATNA1 and NDEL1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity 0 all_neural(199;0.223) TGGACCTCCTGAACATCGTCA 0.557 NaN 0 0 0 0.012319 0 17 40 TMCO7 79613 broad.mit.edu 37 16 68909058 68909058 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:68909058G>A uc002ewi.3 + 5 1008 c.996G>A c.(994-996)GCG>GCA p.A332A NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 332 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) TTGTGCCAGCGGGAGCAGCTG 0.468 NaN 0 0 0 0.014323 0 17 50 HYDIN 54768 broad.mit.edu 37 16 70942755 70942755 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:70942755C>G uc002ezr.2 - 48 8139 c.8011G>C c.(8011-8013)GAG>CAG p.E2671Q NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2672 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CTGGTCTGCTCCTCTTGAGCC 0.423 NaN 0 0 0 0.012319 0 19 35 ADAMTS18 170692 broad.mit.edu 37 16 77325218 77325218 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:77325218G>C uc002ffc.3 - 21 3766 c.3347C>G c.(3346-3348)CCA>CGA p.P1116R NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1116 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TGGATGGGCTGGGCAAGCCCG 0.512 NaN 0 0 0 0.007413 0 17 87 ADAMTS18 170692 broad.mit.edu 37 16 77328882 77328882 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:77328882G>C uc002ffc.3 - 19 3363 c.2944C>G c.(2944-2946)CAG>GAG p.Q982E ADAMTS18_uc010chc.1_Missense_Mutation_p.Q570E NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 982 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 GCTTGGACCTGAGTGGGTGTG 0.542 NaN 0 0 0 0.00245 0 13 22 MBTPS1 8720 broad.mit.edu 37 16 84135328 84135328 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:84135328G>C uc002fhi.2 - 2 563 c.61C>G c.(61-63)CTG>GTG p.L21V NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 21 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 CTGTCGCCCAGATGTTTCTTC 0.438 NaN 0 0 0 0.01441 0 39 81 KCNG4 93107 broad.mit.edu 37 16 84256463 84256463 + Missense_Mutation SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:84256463T>C uc010voc.1 - 3 1041 c.920A>G c.(919-921)TAC>TGC p.Y307C NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 307 Helical; Name=Segment S3; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 CAGCGACACGTAGTATGGGGA 0.637 NaN 0 0 0 0.014758 0 4 15 C16orf7 9605 broad.mit.edu 37 16 89777137 89777137 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:89777137C>G uc002fom.1 - 10 1240 c.1115G>C c.(1114-1116)GGA>GCA p.G372A C16orf7_uc002fol.1_Missense_Mutation_p.G302A|uc002fon.1_5'Flank NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN chromosome 16 open reading frame 7 372 ATP synthesis coupled proton transport GTPase activator activity|transporter activity 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) GTCTGGCAATCCAGATGCGGT 0.726 NaN 0 0 0 0.004672 0 2 6 ZNF594 84622 broad.mit.edu 37 17 5086808 5086808 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:5086808G>T uc010cla.1 - 2 900 c.744C>A c.(742-744)TTC>TTA p.F248L NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 248 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 TGCTTTGACTGAAAGCCTTCC 0.428 NaN 1 0 8.87156e-34 0.01441 9.59903e-34 72 84 TP53 7157 broad.mit.edu 37 17 7578239 7578239 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:7578239C>G uc002gim.2 - 6 804 c.610G>C c.(610-612)GAG>CAG p.E204Q TP53_uc002gig.1_Missense_Mutation_p.E204Q|TP53_uc002gih.2_Missense_Mutation_p.E204Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E72Q|TP53_uc010cng.1_Missense_Mutation_p.E72Q|TP53_uc002gii.1_Missense_Mutation_p.E72Q|TP53_uc010cnh.1_Missense_Mutation_p.E204Q|TP53_uc010cni.1_Missense_Mutation_p.E204Q|TP53_uc002gij.2_Missense_Mutation_p.E204Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.E111Q|TP53_uc002gio.2_Missense_Mutation_p.E72Q|TP53_uc010vug.1_Missense_Mutation_p.E165Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 204 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> A (in sporadic cancers; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (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.E204*(23)|p.0?(7)|p.E204fs*5(3)|p.E204G(2)|p.E204E(2)|p.E204K(2)|p.E204fs*43(2)|p.K164_P219del(1)|p.E204Q(1)|p.E204D(1)|p.E204fs*4(1)|p.E204A(1)|p.V203_E204>V*(1)|p.E204V(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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) TCCAAATACTCCACACGCAAA 0.542 111 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) 0 0 0 0.003954 0 21 39 TP53 7157 broad.mit.edu 37 17 7578488 7578488 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:7578488C>T uc002gim.2 - 5 636 c.442G>A c.(442-444)GAT>AAT p.D148N TP53_uc002gig.1_Missense_Mutation_p.D148N|TP53_uc002gih.2_Missense_Mutation_p.D148N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D16N|TP53_uc010cng.1_Missense_Mutation_p.D16N|TP53_uc002gii.1_Missense_Mutation_p.D16N|TP53_uc010cnh.1_Missense_Mutation_p.D148N|TP53_uc010cni.1_Missense_Mutation_p.D148N|TP53_uc002gij.2_Missense_Mutation_p.D148N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.D55N|TP53_uc002gio.2_Missense_Mutation_p.D16N|TP53_uc010vug.1_Missense_Mutation_p.D109N NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 148 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). D -> N (in sporadic cancers; somatic mutation).|D -> A (in a sporadic cancer; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|D -> G (in a sporadic cancer; 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.0?(7)|p.D148E(4)|p.D148N(4)|p.D148V(2)|p.D148fs*23(2)|p.D148fs*22(2)|p.D148fs*33(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.D148del(1)|p.Q144fs*32(1)|p.D148Y(1)|p.D148fs*34(1)|p.D148fs*32(1)|p.D148D(1)|p.D148*(1)|p.D148H(1)|p.V143_S149del(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) GGTGTGGAATCAACCCACAGC 0.602 111 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) 0 0 0 0.006999 0 36 32 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:7578534C>G uc002gim.2 - 5 590 c.396G>C c.(394-396)AAG>AAC p.K132N TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 132 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (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.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(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) GGCAAAACATCTTGTTGAGGG 0.562 111 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) 0 0 0 0.010504 0 19 24 CDRT1 374286 broad.mit.edu 37 17 15522810 15522810 + Nonsense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:15522810G>C uc002gov.3 - 1 209 c.17C>G c.(16-18)TCA>TGA p.S6* TRIM16_uc002gor.1_Intron NM_006382 NP_006373 O95170 CDRT1_HUMAN CMT1A duplicated region transcript 1 6 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) CTTGAGCCTTGATTCCAGGTT 0.498 NaN 0 0 0 0.01441 0 110 219 KIAA0100 9703 broad.mit.edu 37 17 26950907 26950907 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:26950907G>T uc002hbu.2 - 26 4929 c.4830C>A c.(4828-4830)CAC>CAA p.H1610Q KIAA0100_uc002hbt.2_5'Flank NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1610 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AGGCTGGATGGTGCTGGCACT 0.522 NaN 1 0 0.000274275 0.004482 0.000282634 8 173 MYO18A 399687 broad.mit.edu 37 17 27413464 27413464 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:27413464G>A uc002hdt.1 - 39 6002 c.5844C>T c.(5842-5844)CTC>CTT p.L1948L MYO18A_uc010wbc.1_Silent_p.L1481L|MYO18A_uc002hds.2_Silent_p.L1490L|MYO18A_uc010csa.1_Silent_p.L1911L|MYO18A_uc002hdu.1_Silent_p.L1948L NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1948 Potential. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) ACCTGTTGATGAGGTCCTCAT 0.562 NaN 0 0 0 0.014758 0 3 7 CCL1 6346 broad.mit.edu 37 17 32688819 32688819 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:32688819G>C uc002hid.1 - 2 245 c.173C>G c.(172-174)TCC>TGC p.S58C NM_002981 NP_002972 P22362 CCL1_HUMAN small inducible cytokine A1 precursor 58 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity 0 Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) GCCCTCATTGGAGCAGATGGA 0.483 NaN OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 57 128 CCL1 6346 broad.mit.edu 37 17 32688887 32688887 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:32688887G>C uc002hid.1 - 2 177 c.105C>G c.(103-105)TTC>TTG p.F35L NM_002981 NP_002972 P22362 CCL1_HUMAN small inducible cytokine A1 precursor 35 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity 0 Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) CCGCAAATGAGAAGCAACATC 0.453 NaN OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010818 0 28 77 SLFN12L 342615 broad.mit.edu 37 17 33807129 33807129 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:33807129G>A uc002hjn.2 - 3 1066 c.187C>T c.(187-189)CTA>TTA p.L63L NM_001145027 NP_001138499 schlafen family member 12-like ovary(1) 1 CCCACATTTAGAACCAGCTCA 0.388 NaN 0 0 0 0.006214 0 9 30 MED24 9862 broad.mit.edu 37 17 38178927 38178927 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:38178927G>C uc002htt.2 - 21 2716 c.2403C>G c.(2401-2403)CTC>CTG p.L801L MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Silent_p.L136L|MED24_uc010wes.1_Silent_p.L661L|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.L826L|MED24_uc002htu.2_Silent_p.L788L|MED24_uc010cwn.2_Silent_p.L788L|MED24_uc010weu.1_Silent_p.L711L|MED24_uc010wev.1_Silent_p.L751L NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 801 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) GGGGGTCCATGAGGCTGTGCC 0.617 NaN 0 0 0 0.007413 0 14 24 TOP2A 7153 broad.mit.edu 37 17 38563833 38563833 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:38563833G>A uc002huq.2 - 13 1720 c.1594C>T c.(1594-1596)CGT>TGT p.R532C NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 532 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TTCCCATAACGAAGCGTCTTC 0.294 NaN 0 0 0 0.004482 0 7 14 KRTAP9-8 83901 broad.mit.edu 37 17 39394331 39394331 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:39394331C>T uc002hwh.3 + 1 62 c.28C>T c.(28-30)CAG>TAG p.Q10* KRTAP9-9_uc010wfq.1_Intron NM_031963 NP_114169 Q9BYQ0 KRA98_HUMAN keratin associated protein 9.8 10 1.|15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI]. keratin filament ovary(1) 1 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCCTTGCTGTCAGCCTACGTG 0.592 NaN 0 0 0 0.003954 0 22 133 KLHL11 55175 broad.mit.edu 37 17 40021195 40021195 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:40021195C>T uc002hyf.1 - 1 435 c.429G>A c.(427-429)TGG>TGA p.W143* NM_018143 NP_060613 Q9NVR0 KLH11_HUMAN kelch-like 11 precursor 143 BTB. extracellular region 0 Breast(137;0.00156) GCTCGGAGCTCCACTTGCGCA 0.677 NaN 0 0 0 0.005443 0 23 40 BRCA1 672 broad.mit.edu 37 17 41246522 41246522 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:41246522C>G uc002icq.2 - 10 1258 c.1026G>C c.(1024-1026)CTG>CTC p.L342L BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.L271L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Silent_p.L295L|BRCA1_uc002ict.2_Silent_p.L342L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Silent_p.L342L|BRCA1_uc002ide.1_Silent_p.L173L|BRCA1_uc010cyy.1_Silent_p.L342L|BRCA1_uc010whs.1_Silent_p.L342L|BRCA1_uc010cyz.2_Silent_p.L295L|BRCA1_uc010cza.2_Silent_p.L316L|BRCA1_uc010wht.1_Silent_p.L46L NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 342 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GATCAGCATTCAGATCTACCT 0.438 NaN D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 0 0 0 0.008361 0 28 161 CCDC43 124808 broad.mit.edu 37 17 42759437 42759437 + Nonsense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:42759437G>C uc002ihc.2 - 3 406 c.362C>G c.(361-363)TCA>TGA p.S121* CCDC43_uc010czw.1_Nonsense_Mutation_p.S121* NM_144609 NP_653210 Q96MW1 CCD43_HUMAN coiled-coil domain containing 43 isoform 1 121 Potential. 0 Prostate(33;0.0322) CTCCTCTTCTGACACCATCCT 0.498 NaN 0 0 0 0.00333 0 24 103 LRRC37A2 474170 broad.mit.edu 37 17 44630810 44630810 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:44630810C>T uc002ikn.1 + 11 4857 c.4854C>T c.(4852-4854)TTC>TTT p.F1618F ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Silent_p.F579F|ARL17A_uc002iks.2_3'UTR NM_001006607 NP_001006608 A6NM11 L37A2_HUMAN c114 SLIT-like testicular protein precursor 1618 Cytoplasmic (Potential). integral to membrane 0 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) AAGAAGGATTCTCAAGGTAAA 0.224 NaN 0 0 0 0.00632 0 21 155 MYCBPAP 84073 broad.mit.edu 37 17 48596430 48596430 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:48596430C>A uc010wmr.1 + 6 1039 c.877C>A c.(877-879)CCA>ACA p.P293T MYCBPAP_uc002iqx.2_Missense_Mutation_p.P293T|MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 256 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CTGCACACTTCCAACCCGGCG 0.617 NaN 1 0 0.00198382 0.001984 0.00204039 5 52 ACE 1636 broad.mit.edu 37 17 61564428 61564428 + Missense_Mutation SNP G G C rs148995315 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:61564428G>C uc002jau.1 + 15 2321 c.2299G>C c.(2299-2301)GAG>CAG p.E767Q ACE_uc002jav.1_Missense_Mutation_p.E193Q|ACE_uc010ddv.1_5'UTR|ACE_uc010wpj.1_Missense_Mutation_p.E193Q|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.E77Q NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 767 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CCTGCAGCTCGAGCCAGGTGA 0.617 NaN 0 0 0 0.008871 0 20 42 DDX5 1655 broad.mit.edu 37 17 62499953 62499953 + Nonsense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:62499953G>A uc002jek.2 - 5 722 c.475C>T c.(475-477)CAG>TAG p.Q159* DDX5_uc010deh.2_Nonsense_Mutation_p.Q159*|DDX5_uc002jej.2_Nonsense_Mutation_p.Q54*|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 159 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) AGGAATGGCTGATGATTGATG 0.333 NaN T ETV4 prostate 0 0 0 0.00499 0 13 64 ABCA5 23461 broad.mit.edu 37 17 67273900 67273900 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:67273900G>C uc002jif.2 - 18 3694 c.2476C>G c.(2476-2478)CTT>GTT p.L826V ABCA5_uc002jic.2_Missense_Mutation_p.L49V|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.L826V|ABCA5_uc002jih.2_Missense_Mutation_p.L826V|ABCA5_uc010dfe.2_Missense_Mutation_p.L826V NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 826 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) GTTTCAGAAAGAATAAGTAAG 0.363 NaN 0 0 0 0.003163 0 13 23 DNAI2 64446 broad.mit.edu 37 17 72281227 72281227 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:72281227G>C uc002jkf.2 + 3 331 c.232G>C c.(232-234)GAG>CAG p.E78Q DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 78 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 TAACCATGTCGAGGGGGGCTG 0.562 NaN Kartagener_syndrome 0 0 0 0.00308 0 5 68 EVPL 2125 broad.mit.edu 37 17 74015086 74015086 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:74015086C>T uc002jqi.2 - 11 1421 c.1193G>A c.(1192-1194)CGA>CAA p.R398Q EVPL_uc010wss.1_Missense_Mutation_p.R398Q|EVPL_uc010wst.1_5'UTR NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 398 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 ATCCCGGCTTCGCCGCTGCAG 0.672 NaN 0 0 0 0.001168 0 5 9 THOC1 9984 broad.mit.edu 37 18 226868 226868 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr18:226868G>A uc002kkj.3 - 12 992 c.952C>T c.(952-954)CGT>TGT p.R318C THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_Missense_Mutation_p.R318C|THOC1_uc002kkh.3_5'Flank NM_005131 NP_005122 Q96FV9 THOC1_HUMAN THO complex 1 318 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding ovary(1) 1 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) ATGTGTCGACGAAAGTTACTG 0.343 NaN 0 0 0 0.006122 0 13 8 RIOK3 8780 broad.mit.edu 37 18 21044494 21044494 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr18:21044494C>G uc002kui.3 + 5 1062 c.445C>G c.(445-447)CCC>GCC p.P149A RIOK3_uc010dls.2_Missense_Mutation_p.P149A|RIOK3_uc010xas.1_Missense_Mutation_p.P133A|RIOK3_uc010xat.1_5'Flank NM_003831 NP_003822 O14730 RIOK3_HUMAN sudD suppressor of bimD6 homolog 149 chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(1) 3 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAAACCGGTTCCCACTCCTAA 0.363 NaN 0 0 0 0.004289 0 35 24 KIAA1632 57724 broad.mit.edu 37 18 43496060 43496060 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr18:43496060G>A uc002lbm.2 - 19 3596 c.3496C>T c.(3496-3498)CTC>TTC p.L1166F KIAA1632_uc002lbo.1_Missense_Mutation_p.L1166F|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.L41F NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1166 autophagy 0 ATGAGGAAGAGGATAGGTTGT 0.468 NaN 0 0 0 0.001984 0 6 72 TCEB3B 51224 broad.mit.edu 37 18 44560549 44560549 + Missense_Mutation SNP A A T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr18:44560549A>T uc002lcr.1 - 1 1440 c.1087T>A c.(1087-1089)TCC>ACC p.S363T KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 363 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 TCAGAGAGGGAGCTCACGGAC 0.542 NaN 0 0 0 0.006214 0 9 88 ATP8B3 148229 broad.mit.edu 37 19 1783250 1783250 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:1783250C>T uc002ltw.2 - 29 3914 c.3680G>A c.(3679-3681)GGC>GAC p.G1227D ATP8B3_uc002ltv.2_Missense_Mutation_p.G1190D|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 1227 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) 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) CTCGCTGGGGCCCTCCTCCAC 0.592 NaN 0 0 0 0.009096 0 3 5 TMEM146 257062 broad.mit.edu 37 19 5745953 5745953 + Silent SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:5745953C>A uc002mda.2 + 9 748 c.687C>A c.(685-687)CTC>CTA p.L229L TMEM146_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 229 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 ATCACCCCCTCAACCGGAGTT 0.498 NaN 1 0 3.16549e-35 0.01441 3.43192e-35 83 147 FUT3 2525 broad.mit.edu 37 19 5844334 5844334 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:5844334C>T uc002mdk.2 - 2 614 c.517G>A c.(517-519)GAG>AAG p.E173K FUT3_uc002mdm.2_Missense_Mutation_p.E173K|FUT3_uc002mdj.2_Missense_Mutation_p.E173K|FUT3_uc002mdl.2_Missense_Mutation_p.E173K NM_001097641 NP_001091110 P21217 FUT3_HUMAN fucosyltransferase 3 173 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity 0 GACCACGGCTCCAGCCAGCCG 0.647 NaN 0 0 0 0.007413 0 14 28 RANBP3 8498 broad.mit.edu 37 19 5941640 5941640 + Nonsense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:5941640G>C uc002mdw.2 - 5 625 c.398C>G c.(397-399)TCA>TGA p.S133* RANBP3_uc002mdx.2_Nonsense_Mutation_p.S133*|RANBP3_uc002mdy.2_Nonsense_Mutation_p.S65*|RANBP3_uc002mdz.2_Nonsense_Mutation_p.S65*|RANBP3_uc010duq.2_5'UTR|RANBP3_uc002mea.2_Intron|RANBP3_uc010xix.1_Intron NM_007322 NP_015561 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 isoform RANBP3-d 133 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1) 1 ACCTGACTGTGAGGGTGGGAA 0.468 NaN 0 0 0 0.01441 0 37 57 GTF2F1 2962 broad.mit.edu 37 19 6389529 6389529 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:6389529G>A uc002meq.2 - 4 537 c.252C>T c.(250-252)TAC>TAT p.Y84Y GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Silent_p.Y56Y NM_002096 NP_002087 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 84 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding 0 GGACGATGCCGTACTTCTTCC 0.617 NaN 0 0 0 0.014758 0 5 207 SNAPC2 6618 broad.mit.edu 37 19 7987050 7987050 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:7987050C>T uc002miw.1 + 4 526 c.503C>T c.(502-504)CCT>CTT p.P168L SNAPC2_uc002mix.1_RNA NM_003083 NP_003074 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, 168 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity 0 CCTGAAATACCTAGCTCTGCC 0.642 NaN 0 0 0 0.013537 0 10 89 TIMM44 10469 broad.mit.edu 37 19 7992547 7992547 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:7992547C>T uc002miz.2 - 12 1236 c.1234G>A c.(1234-1236)GAC>AAC p.D412N TIMM44_uc002mja.2_Missense_Mutation_p.D152N|CTXN1_uc002miy.3_5'Flank NM_006351 NP_006342 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 412 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 CTCACCGGGTCACCCTCCACC 0.632 NaN 0 0 0 0.004656 0 20 157 MUC16 94025 broad.mit.edu 37 19 9001862 9001862 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:9001862C>G uc002mkp.2 - 53 40590 c.40386G>C c.(40384-40386)TCG>TCC p.S13462S MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.S279S|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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 CTGGAGTTCTCGAGGTTGCCA 0.488 NaN 0 0 0 0.010729 0 5 15 ZNF136 7695 broad.mit.edu 37 19 12296680 12296680 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:12296680C>G uc002mti.2 + 2 184 c.84C>G c.(82-84)CTC>CTG p.L28L ZNF136_uc010xmh.1_Intron NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 28 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 AGAAGAATCTCTACAGAGATG 0.443 NaN 0 0 0 0.007291 0 23 41 PRDX2 7001 broad.mit.edu 37 19 12911834 12911834 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:12911834G>A uc002mvd.2 - 3 303 c.153C>T c.(151-153)TGC>TGT p.C51C PRDX2_uc002mve.1_Silent_p.C51C NM_005809 NP_005800 P32119 PRDX2_HUMAN peroxiredoxin 2 isoform a 51 Thioredoxin. Cysteine sulfenic acid (-SOH) intermediate. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity 0 TCTCGGTGGGGCACACAAAAG 0.587 NaN 0 0 0 0.001984 0 6 31 CACNA1A 773 broad.mit.edu 37 19 13340984 13340984 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:13340984C>G uc010dze.2 - 36 5679 c.5443G>C c.(5443-5445)GAG>CAG p.E1815Q CACNA1A_uc010xnd.1_Missense_Mutation_p.E520Q|CACNA1A_uc002mwx.3_Missense_Mutation_p.E520Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.E1340Q|CACNA1A_uc002mwy.3_Missense_Mutation_p.E1814Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.E331Q NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1815 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) GTGAGGTACTCAAAGTTGTCC 0.577 NaN 0 0 0 0.001168 0 4 34 CYP4F8 11283 broad.mit.edu 37 19 15734173 15734173 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:15734173C>T uc002nbi.2 + 9 970 c.906C>T c.(904-906)CTC>CTT p.L302L CYP4F8_uc010xoj.1_Silent_p.L114L NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 302 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 TTGATGTGCTCCTGCTGAGCG 0.537 NaN 0 0 0 0.003163 0 12 34 CYP4F2 8529 broad.mit.edu 37 19 16001219 16001219 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:16001219C>G uc002nbs.1 - 6 600 c.550G>C c.(550-552)GAG>CAG p.E184Q CYP4F2_uc010xot.1_Missense_Mutation_p.E35Q|CYP4F2_uc010xou.1_Missense_Mutation_p.E35Q NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 184 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 GCACTACCCTCTGAGGCCAGG 0.542 NaN 0 0 0 0.016522 0 19 75 ABHD8 79575 broad.mit.edu 37 19 17411697 17411697 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:17411697C>T uc002ngb.3 - 2 969 c.729G>A c.(727-729)AAG>AAA p.K243K NM_024527 NP_078803 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 243 hydrolase activity 0 CATTTCGCTTCTTGGCATAGC 0.597 NaN 0 0 0 0.007835 0 36 150 KCNN1 3780 broad.mit.edu 37 19 18099287 18099287 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:18099287G>A uc002nht.2 + 7 1433 c.1123G>A c.(1123-1125)GAG>AAG p.E375K KCNN1_uc010xqa.1_Missense_Mutation_p.E375K NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 375 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 CACCAAGGCTGAGAAGCACGT 0.637 NaN 0 0 0 0.004482 0 7 16 KIAA1683 80726 broad.mit.edu 37 19 18376060 18376060 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:18376060C>T uc002nin.2 - 3 2506 c.2290G>A c.(2290-2292)GAT>AAT p.D764N KIAA1683_uc010ebn.2_Missense_Mutation_p.D764N|KIAA1683_uc010xqe.1_Missense_Mutation_p.D718N NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 764 mitochondrion ovary(2) 2 CTGCTGAGATCAGCAGCCTGG 0.657 NaN 0 0 0 0.011902 0 39 77 SSBP4 170463 broad.mit.edu 37 19 18543520 18543520 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:18543520C>G uc002niy.2 + 12 999 c.761C>G c.(760-762)TCC>TGC p.S254C SSBP4_uc002niz.2_Missense_Mutation_p.S232C NM_032627 NP_116016 Q9BWG4 SSBP4_HUMAN single stranded DNA binding protein 4 isoform a 254 Pro-rich. nucleus single-stranded DNA binding 0 ATCCCCTACTCCTCCTCATCC 0.642 NaN 0 0 0 0.006214 0 7 16 GPATCH1 55094 broad.mit.edu 37 19 33608848 33608848 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:33608848G>A uc002nug.1 + 16 2628 c.2314G>A c.(2314-2316)GAG>AAG p.E772K GPATCH1_uc002nuh.1_Missense_Mutation_p.E149K NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 772 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) CTCCGAGGATGAGCAAGGTGA 0.552 NaN 0 0 0 0.00308 0 7 57 ZNF599 148103 broad.mit.edu 37 19 35250830 35250830 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:35250830G>A uc010edn.1 - 4 1264 c.876C>T c.(874-876)TTC>TTT p.F292F ZNF599_uc010edm.1_Silent_p.F255F NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 292 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AGCGGTGGGTGAATGCTTTGC 0.453 NaN 0 0 0 0.013114 0 42 96 ZNF585B 92285 broad.mit.edu 37 19 37677474 37677474 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:37677474C>G uc002ofq.2 - 5 1219 c.965G>C c.(964-966)AGA>ACA p.R322T uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.R136T NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGGCTTCACTCTTGTGTGAAC 0.378 NaN 0 0 0 0.003755 0 30 130 NFKBIB 4793 broad.mit.edu 37 19 39399404 39399404 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:39399404C>T uc002ojw.2 + 6 1061 c.1003C>T c.(1003-1005)CGC>TGC p.R335C NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR NM_002503 NP_002494 Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene 335 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity lung(1)|kidney(1) 2 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TCACAGCAGCCGCAGCCAAAC 0.567 NaN 0 0 0 0.01441 0 38 85 NFKBIB 4793 broad.mit.edu 37 19 39399438 39399438 + Nonsense_Mutation SNP C C G rs11551804 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:39399438C>G uc002ojw.2 + 6 1095 c.1037C>G c.(1036-1038)TCA>TGA p.S346* NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR NM_002503 NP_002494 Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene 346 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity lung(1)|kidney(1) 2 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) ACCCCAGCCTCAAAACCTCTT 0.527 NaN 0 0 0 0.00874 0 35 79 CYP2F1 1572 broad.mit.edu 37 19 41622139 41622139 + Missense_Mutation SNP G G A rs142026539 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:41622139G>A uc002opu.1 + 2 102 c.46G>A c.(46-48)GTC>ATC p.V16I CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.V16I|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 16 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 CCTGGCTCTCGTCTGTCTGCT 0.577 NaN 0 0 0 0.006122 0 15 121 EXOC3L2 90332 broad.mit.edu 37 19 45720793 45720793 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:45720793C>T uc002pay.1 - 8 853 c.812G>A c.(811-813)CGG>CAG p.R271Q NM_138568 NP_612635 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 271 Potential. ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) GACCAGCCGCCGGAACAGCCT 0.701 NaN 0 0 0 0.004672 0 3 12 MARK4 57787 broad.mit.edu 37 19 45767943 45767943 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:45767943G>A uc002pbb.1 + 5 362 c.357G>A c.(355-357)GTG>GTA p.V119V MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.V119V|MARK4_uc002pbc.1_5'UTR Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 119 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCATTATAGTGAAGCTCTTTG 0.552 NaN 0 0 0 0.011902 0 38 91 FOSB 2354 broad.mit.edu 37 19 45975962 45975962 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:45975962G>A uc002pbx.3 + 4 1301 c.709G>A c.(709-711)GAG>AAG p.E237K ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Missense_Mutation_p.E162K|FOSB_uc002pby.3_Missense_Mutation_p.E201K|FOSB_uc010eka.1_Missense_Mutation_p.E198K|FOSB_uc010ekb.1_Missense_Mutation_p.E237K|FOSB_uc010ekc.1_Missense_Mutation_p.E94K|FOSB_uc010ekf.2_Missense_Mutation_p.E198K|FOSB_uc010ekd.1_Missense_Mutation_p.E201K|FOSB_uc010ekg.2_Missense_Mutation_p.E94K|FOSB_uc002pca.3_Missense_Mutation_p.E188K NM_006732 NP_006723 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 237 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(2)|lung(1) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) CCCGCTGGCGGAGGTGAGAGA 0.667 NaN 0 0 0 0.008291 0 9 22 ZC3H4 23211 broad.mit.edu 37 19 47572355 47572355 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:47572355C>T uc002pga.3 - 14 2430 c.2392G>A c.(2392-2394)GAG>AAG p.E798K ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 798 Potential. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GTGCCTTCCTCATTCTCCCGG 0.677 NaN 0 0 0 0.007835 0 39 107 EHD2 30846 broad.mit.edu 37 19 48244215 48244215 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:48244215G>A uc002phj.3 + 6 1408 c.1158G>A c.(1156-1158)CTG>CTA p.L386L EHD2_uc010xyu.1_Silent_p.L250L|EHD2_uc010xyv.1_Silent_p.L69L NM_014601 NP_055416 Q9NZN4 EHD2_HUMAN EH-domain containing 2 386 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding ovary(1)|skin(1) 2 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) ACGAGATGCTGACGCACGACA 0.647 NaN 0 0 0 0.003954 0 22 31 ALDH16A1 126133 broad.mit.edu 37 19 49967512 49967512 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:49967512G>A uc002pnt.2 + 10 1439 c.1323G>A c.(1321-1323)CTG>CTA p.L441L ALDH16A1_uc010yar.1_Silent_p.L390L|ALDH16A1_uc010yas.1_Silent_p.L276L|ALDH16A1_uc010yat.1_Silent_p.L278L NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 441 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CGCTGGAGCTGGGCTATGGGT 0.667 NaN 0 0 0 0.001168 0 5 14 ZNF880 400713 broad.mit.edu 37 19 52887440 52887440 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:52887440C>G uc002pzc.2 + 4 656 c.607C>G c.(607-609)CAA>GAA p.Q203E NM_001145434 NP_001138906 Q6PDB4 ZN880_HUMAN zinc finger protein LOC400713 203 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 TGCTAACAATCAAGTAATCCA 0.373 NaN 0 0 0 0.001168 0 6 16 LENG9 94059 broad.mit.edu 37 19 54973627 54973627 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:54973627C>T uc010yez.1 - 1 1268 c.1149G>A c.(1147-1149)CTG>CTA p.L383L NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 383 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) GGGCCCGTCTCAGAGCTCCAA 0.657 NaN 0 0 0 0.006214 0 7 39 LILRA1 11024 broad.mit.edu 37 19 55107923 55107923 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:55107923C>T uc002qgh.1 + 7 1410 c.1228C>T c.(1228-1230)CAC>TAC p.H410Y LILRA2_uc010yfg.1_Missense_Mutation_p.H408Y|LILRA1_uc010yfh.1_Missense_Mutation_p.H410Y NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 410 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CCTGCTGTCTCACCCCAGTGA 0.612 NaN 0 0 0 0.01441 0 38 108 KIR2DL1 3802 broad.mit.edu 37 19 55294990 55294990 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:55294990G>A uc002qhb.1 + 7 908 c.870G>A c.(868-870)GAG>GAA p.E290E KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_5'Flank|KIR2DL3_uc010erw.1_Silent_p.E291E|KIR2DL1_uc002qgz.1_Silent_p.E200E|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Silent_p.E316E NM_014218 NP_055033 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two 290 Cytoplasmic (Potential). immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) CGAATAGCGAGGTAGGTACTC 0.532 NaN 0 0 0 0.010771 0 35 81 NLRP2 55655 broad.mit.edu 37 19 55508805 55508805 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:55508805G>C uc002qij.2 + 12 3086 c.3000G>C c.(2998-3000)AAG>AAC p.K1000N NLRP2_uc010yfp.1_Missense_Mutation_p.K977N|NLRP2_uc010esn.2_Missense_Mutation_p.K976N|NLRP2_uc010eso.2_Missense_Mutation_p.K997N|NLRP2_uc010esp.2_Missense_Mutation_p.K978N NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 1000 LRR 7. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GTGGAGTGAAGATGCTGTTTG 0.527 NaN 0 0 0 0.008361 0 24 133 ZNF749 388567 broad.mit.edu 37 19 57956341 57956341 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:57956341G>A uc002qoq.2 + 3 2079 c.1825G>A c.(1825-1827)GAA>AAA p.E609K ZNF547_uc002qpm.3_Intron NM_001023561 NP_001018855 O43361 ZN749_HUMAN zinc finger protein 749 609 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TCACACTGGAGAAAAGCCTTA 0.388 NaN 0 0 0 0.006214 0 7 57 CHMP2A 27243 broad.mit.edu 37 19 59063468 59063468 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:59063468C>T uc002qti.2 - 3 859 c.433G>A c.(433-435)GAT>AAT p.D145N CHMP2A_uc002qtj.2_Missense_Mutation_p.D145N|CHMP2A_uc002qtk.2_Missense_Mutation_p.D145N NM_198426 NP_940818 O43633 CHM2A_HUMAN chromatin modifying protein 2A 145 Interaction with VPS4B. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TCAATGGCATCATTCATCATC 0.517 NaN 0 0 0 0.010771 0 39 181 MYT1L 23040 broad.mit.edu 37 2 1842969 1842969 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:1842969C>T uc002qxe.2 - 21 3859 c.3032G>A c.(3031-3033)GGA>GAA p.G1011E MYT1L_uc002qxd.2_Missense_Mutation_p.G1009E|MYT1L_uc010ewk.2_Missense_Mutation_p.G7E NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1011 C2HC-type 6. 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) GCCGTCGCATCCTGGCGTGGG 0.667 NaN 0 0 0 0.013537 0 9 39 ASAP2 8853 broad.mit.edu 37 2 9484706 9484706 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:9484706C>A uc002qzh.2 + 10 1235 c.895C>A c.(895-897)CAG>AAG p.Q299K ASAP2_uc002qzi.2_Missense_Mutation_p.Q299K NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 299 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 ACATCAGCCTCAGGGAAACAA 0.458 NaN 1 0 2.2171e-23 0.009535 2.37987e-23 24 66 NCOA1 8648 broad.mit.edu 37 2 24980905 24980905 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:24980905G>C uc002rfk.2 + 19 4203 c.3945G>C c.(3943-3945)ATG>ATC p.M1315I NCOA1_uc010eye.2_Missense_Mutation_p.M1315I|NCOA1_uc002rfi.2_Missense_Mutation_p.M1164I|NCOA1_uc002rfj.2_Missense_Mutation_p.M1315I|NCOA1_uc002rfl.2_Missense_Mutation_p.M1315I|NCOA1_uc010eyf.2_Missense_Mutation_p.M208I NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 1315 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAACAACATGAGCATCACCG 0.473 NaN T PAX3 alveolar rhadomyosarcoma 0 0 0 0.007413 0 20 55 DTNB 1838 broad.mit.edu 37 2 25803618 25803618 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:25803618G>A uc002rgh.2 - 7 931 c.681C>T c.(679-681)CTC>CTT p.L227L DTNB_uc010yko.1_Silent_p.L170L|DTNB_uc010ykp.1_Silent_p.L23L|DTNB_uc002rgo.2_Silent_p.L48L|DTNB_uc002rgi.2_Silent_p.L227L|DTNB_uc002rgj.2_Silent_p.L227L|DTNB_uc002rgk.2_Silent_p.L227L|DTNB_uc002rgl.2_Silent_p.L227L|DTNB_uc002rgq.2_Silent_p.L227L|DTNB_uc002rgm.2_Silent_p.L227L|DTNB_uc002rgn.2_Silent_p.L23L|DTNB_uc002rgr.1_Silent_p.L216L|DTNB_uc010ykq.1_Silent_p.L80L NM_021907 NP_068707 O60941 DTNB_HUMAN dystrobrevin, beta isoform 1 227 cytoplasm calcium ion binding|zinc ion binding large_intestine(2)|ovary(2) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCTGTGCATGAGAGGTAGCC 0.398 NaN 0 0 0 0.012213 0 28 72 DTNB 1838 broad.mit.edu 37 2 25803620 25803620 + Missense_Mutation SNP G G A rs111695014 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:25803620G>A uc002rgh.2 - 7 929 c.679C>T c.(679-681)CTC>TTC p.L227F DTNB_uc010yko.1_Missense_Mutation_p.L170F|DTNB_uc010ykp.1_Missense_Mutation_p.L23F|DTNB_uc002rgo.2_Missense_Mutation_p.L48F|DTNB_uc002rgi.2_Missense_Mutation_p.L227F|DTNB_uc002rgj.2_Missense_Mutation_p.L227F|DTNB_uc002rgk.2_Missense_Mutation_p.L227F|DTNB_uc002rgl.2_Missense_Mutation_p.L227F|DTNB_uc002rgq.2_Missense_Mutation_p.L227F|DTNB_uc002rgm.2_Missense_Mutation_p.L227F|DTNB_uc002rgn.2_Missense_Mutation_p.L23F|DTNB_uc002rgr.1_Missense_Mutation_p.L216F|DTNB_uc010ykq.1_Missense_Mutation_p.L80F NM_021907 NP_068707 O60941 DTNB_HUMAN dystrobrevin, beta isoform 1 227 cytoplasm calcium ion binding|zinc ion binding large_intestine(2)|ovary(2) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGTGCATGAGAGGTAGCCAG 0.398 NaN 0 0 0 0.015359 0 29 72 GCKR 2646 broad.mit.edu 37 2 27729747 27729747 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:27729747G>C uc002rky.2 + 12 1127 c.1061G>C c.(1060-1062)GGT>GCT p.G354A GCKR_uc010ezd.2_Splice_Site_p.D354_splice|GCKR_uc010ylu.1_Missense_Mutation_p.G164A NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 354 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) CACACCTTTGGTGCTGGTGGG 0.552 NaN 0 0 0 0.01441 0 48 109 CEBPZ 10153 broad.mit.edu 37 2 37449631 37449631 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:37449631C>G uc002rpz.2 - 4 1987 c.1957G>C c.(1957-1959)GAA>CAA p.E653Q NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 653 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) ATCTCTGTTTCTTTGTCTGCA 0.343 NaN 0 0 0 0.00245 0 13 40 PPM1B 5495 broad.mit.edu 37 2 44428664 44428664 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:44428664G>A uc002rtt.2 + 2 754 c.326G>A c.(325-327)GGA>GAA p.G109E PPM1B_uc002rts.2_Missense_Mutation_p.G109E|PPM1B_uc002rtu.2_Missense_Mutation_p.G109E|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.G109E|PPM1B_uc002rtx.2_Missense_Mutation_p.G109E NM_002706 NP_002697 O75688 PPM1B_HUMAN protein phosphatase 1B isoform 1 109 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATCAGAACTGGATTTTTGAAA 0.403 NaN 0 0 0 0.004656 0 26 58 MDH1 4190 broad.mit.edu 37 2 63824624 63824624 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:63824624G>C uc002scj.1 + 4 347 c.291G>C c.(289-291)GAG>GAC p.E97D MDH1_uc010ypv.1_Missense_Mutation_p.E115D|MDH1_uc010ypw.1_Missense_Mutation_p.E2D NM_005917 NP_005908 P40925 MDHC_HUMAN cytosolic malate dehydrogenase 97 gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity kidney(2) 2 NADH(DB00157) AAGGCATGGAGAGAAAAGATT 0.443 NaN 0 0 0 0.001855 0 11 20 EMX1 2016 broad.mit.edu 37 2 73160999 73160999 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:73160999G>A uc002sin.1 + 3 1167 c.789G>A c.(787-789)AAG>AAA p.K263K EMX1_uc002sim.1_3'UTR NM_004097 NP_004088 Q04741 EMX1_HUMAN empty spiracles homolog 1 230 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGCAGAAGAAGAAGGGCTCCC 0.582 NaN 0 0 0 0.010729 0 10 41 RAB11FIP5 26056 broad.mit.edu 37 2 73315235 73315235 + Missense_Mutation SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:73315235T>C uc002siu.3 - 3 1752 c.1511A>G c.(1510-1512)AAG>AGG p.K504R RAB11FIP5_uc002sit.3_Missense_Mutation_p.K426R NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 504 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 ACTCTTGGCCTTTTCCTCCCC 0.592 NaN 0 0 0 0.004672 0 3 113 C2orf78 388960 broad.mit.edu 37 2 74043174 74043174 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:74043174G>C uc002sjr.1 + 3 1945 c.1824G>C c.(1822-1824)AAG>AAC p.K608N NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 608 Lys-rich. ovary(2) 2 TGAAACGGAAGAAAAATCAAC 0.453 NaN 0 0 0 0.007413 0 15 33 POLR1A 25885 broad.mit.edu 37 2 86305287 86305287 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:86305287C>T uc002sqs.2 - 10 1586 c.1207G>A c.(1207-1209)GAT>AAT p.D403N POLR1A_uc002sqv.2_Missense_Mutation_p.D403N NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 403 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 ATCTCGCTATCAAACACAATA 0.413 NaN 0 0 0 0.007413 0 18 47 KCNIP3 30818 broad.mit.edu 37 2 96047361 96047361 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:96047361C>T uc002sup.2 + 6 580 c.465C>T c.(463-465)CTC>CTT p.L155L KCNIP3_uc002suq.2_Silent_p.L129L NM_013434 NP_038462 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3 isoform 1 155 EF-hand 2. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity breast(2)|ovary(1) 3 READ - Rectum adenocarcinoma(193;0.13) TGGTTGGCCTCTCCATCCTGC 0.522 NaN 0 0 0 0.014323 0 17 38 DUSP2 1844 broad.mit.edu 37 2 96809649 96809649 + Silent SNP G G A rs147952657 byFrequency TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:96809649G>A uc002svk.3 - 4 944 c.858C>T c.(856-858)TTC>TTT p.F286F NM_004418 NP_004409 Q05923 DUS2_HUMAN dual specificity phosphatase 2 286 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity breast(1) 1 Ovarian(717;0.0228) GCTGCTTAACGAAGTCAAAGG 0.617 NaN 0 0 0 0.013537 0 10 22 PDCL3 79031 broad.mit.edu 37 2 101188178 101188178 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:101188178G>A uc002tao.2 + 5 607 c.495G>A c.(493-495)ACG>ACA p.T165T NM_024065 NP_076970 Q9H2J4 PDCL3_HUMAN phosducin-like 3 165 apoptosis|interspecies interaction between organisms cytoplasm protein binding 0 ATCTGCCCACGATATTTGTTT 0.458 NaN 0 0 0 0.004878 0 34 236 GCC2 9648 broad.mit.edu 37 2 109087226 109087226 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:109087226G>C uc002tec.2 + 6 1595 c.1441G>C c.(1441-1443)GAG>CAG p.E481Q GCC2_uc002ted.2_Missense_Mutation_p.E380Q NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 481 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 TTTAAATTATGAGAGTTTACG 0.333 NaN 0 0 0 0.00499 0 16 48 GCC2 9648 broad.mit.edu 37 2 109089346 109089346 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:109089346G>C uc002tec.2 + 7 3005 c.2851G>C c.(2851-2853)GAA>CAA p.E951Q GCC2_uc002ted.2_Missense_Mutation_p.E850Q NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 951 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AGAGTTGGAAGAAAAAATAGG 0.308 NaN 0 0 0 0.004482 0 9 22 ANKRD57 65124 broad.mit.edu 37 2 110373639 110373639 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:110373639G>C uc002tfb.2 + 1 1729 c.1573G>C c.(1573-1575)GGG>CGG p.G525R SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank NM_023016 NP_075392 Q53LP3 ANR57_HUMAN ankyrin repeat domain 57 525 0 CAATGTATTTGGGTAAAAATT 0.448 NaN 0 0 0 0.00245 0 14 18 ACOXL 55289 broad.mit.edu 37 2 111562905 111562905 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:111562905A>G uc002tgr.3 + 9 910 c.686A>G c.(685-687)AAT>AGT p.N229S ACOXL_uc010fkc.2_Missense_Mutation_p.N229S|ACOXL_uc010yxk.1_Missense_Mutation_p.N229S NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 229 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 GCAAGATTCAATGCCATGCTG 0.458 NaN 0 0 0 0.008361 0 30 85 DBI 1622 broad.mit.edu 37 2 120128357 120128357 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:120128357G>A uc002tlv.2 + 3 293 c.169G>A c.(169-171)GAT>AAT p.D57N DBI_uc010yyh.1_Missense_Mutation_p.D74N|DBI_uc010yyi.1_Missense_Mutation_p.D74N|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Missense_Mutation_p.D99N|DBI_uc010yyl.1_Missense_Mutation_p.D74N|DBI_uc010yym.1_Missense_Mutation_p.D67N|DBI_uc010yyn.1_Missense_Mutation_p.D74N|DBI_uc002tlw.2_Missense_Mutation_p.D74N|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Missense_Mutation_p.D58N NM_001079862 NP_001073331 P07108 ACBP_HUMAN diazepam binding inhibitor isoform 3 57 ACB. transport benzodiazepine receptor binding|fatty-acyl-CoA binding 0 GGCCAAGTGGGATGCCTGGAA 0.428 NaN 0 0 0 0.00308 0 5 34 SCTR 6344 broad.mit.edu 37 2 120204358 120204358 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:120204358C>G uc002tma.2 - 11 1343 c.1117G>C c.(1117-1119)GAA>CAA p.E373Q SCTR_uc002tlz.2_Missense_Mutation_p.E195Q NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 373 Helical; Name=7; (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) AGGGCTAGTTCAAAAAACAGC 0.547 NaN 0 0 0 0.010504 0 21 57 PCDP1 200373 broad.mit.edu 37 2 120413951 120413951 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:120413951C>G uc002tmb.2 + 25 2662 c.1570C>G c.(1570-1572)CAA>GAA p.Q524E NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 810 cilium calmodulin binding 0 Colorectal(110;0.196) AGTGAAAGATCAAGCACAACC 0.488 NaN 0 0 0 0.00308 0 6 20 TMEM177 80775 broad.mit.edu 37 2 120439083 120439083 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:120439083C>T uc010flg.1 + 2 1127 c.654C>T c.(652-654)TTC>TTT p.F218F TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.F218F|TMEM177_uc002tmd.2_Silent_p.F218F|TMEM177_uc010flh.2_Intron NM_001105198 NP_001098668 Q53S58 TM177_HUMAN transmembrane protein 177 218 Helical; (Potential). integral to membrane ovary(1) 1 Colorectal(110;0.196) CCTACGCCTTCTCCCAGGATT 0.612 NaN 0 0 0 0.003163 0 13 50 ARHGAP15 55843 broad.mit.edu 37 2 143913219 143913219 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:143913219G>A uc002tvm.3 + 2 311 c.160G>A c.(160-162)GAA>AAA p.E54K ARHGAP15_uc010zbl.1_Missense_Mutation_p.E54K NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 54 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) GAAGGTCACTGAACCTGTAAG 0.393 NaN 0 0 0 0.012319 0 19 58 MBD5 55777 broad.mit.edu 37 2 149248116 149248116 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:149248116G>C uc002twm.3 + 12 5204 c.4216G>C c.(4216-4218)GAA>CAA p.E1406Q MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.E1406Q|MBD5_uc002two.2_Missense_Mutation_p.E664Q|MBD5_uc002twp.2_Missense_Mutation_p.E456Q NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1406 PWWP. chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATTAGTAAGAGAAGACGACGT 0.403 NaN 0 0 0 0.008291 0 10 33 RBM43 375287 broad.mit.edu 37 2 152112060 152112060 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:152112060G>C uc002txh.2 - 2 349 c.201C>G c.(199-201)TTC>TTG p.F67L NM_198557 NP_940959 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 67 RRM. nucleotide binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) TTTTTTCTTTGAATATTACAT 0.289 NaN 0 0 0 0.001984 0 6 86 FAP 2191 broad.mit.edu 37 2 163030297 163030297 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:163030297G>A uc002ucd.2 - 23 2178 c.1970C>T c.(1969-1971)GCG>GTG p.A657V FAP_uc010fpc.2_Missense_Mutation_p.A206V|FAP_uc010zct.1_Missense_Mutation_p.A632V|FAP_uc010fpd.2_Missense_Mutation_p.A136V NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 657 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 ovary(3) 3 GTAGACAGACGCTATAAAATA 0.318 NaN 0 0 0 0.01441 0 40 130 TTN 7273 broad.mit.edu 37 2 179395756 179395756 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:179395756C>T uc010zfg.1 - 307 98106 c.97882G>A c.(97882-97884)GAG>AAG p.E32628K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E26323K|TTN_uc010zfi.1_Missense_Mutation_p.E26256K|TTN_uc010zfj.1_Missense_Mutation_p.E26131K|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33555 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) TAATTGCCCTCATCGGAAGCC 0.478 NaN 0 0 0 0.01441 0 93 261 TTN 7273 broad.mit.edu 37 2 179421783 179421783 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:179421783C>G uc010zfg.1 - 279 80618 c.80394G>C c.(80392-80394)AAG>AAC p.K26798N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K20493N|TTN_uc010zfi.1_Missense_Mutation_p.K20426N|TTN_uc010zfj.1_Missense_Mutation_p.K20301N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27725 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) AGCCTGTAATCTTGCTACCTC 0.443 NaN 0 0 0 0.013537 0 10 18 ZNF804A 91752 broad.mit.edu 37 2 185802674 185802674 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:185802674G>A uc002uph.2 + 4 3145 c.2551G>A c.(2551-2553)GAA>AAA p.E851K NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 851 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GTTAATAAGTGAAGACAAAAA 0.348 NaN 0 0 0 0.008291 0 9 31 CALCRL 10203 broad.mit.edu 37 2 188228182 188228182 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:188228182G>A uc002upv.3 - 9 1096 c.548C>T c.(547-549)TCA>TTA p.S183L CALCRL_uc010frt.2_Missense_Mutation_p.S183L NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 183 Helical; Name=2; (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) ACAAACAAATGAGAAGAACAG 0.368 NaN 0 0 0 0.007413 0 17 42 DNAH7 56171 broad.mit.edu 37 2 196673469 196673469 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:196673469G>C uc002utj.3 - 53 10121 c.10020C>G c.(10018-10020)TTC>TTG p.F3340L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3340 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GAATGGTTTTGAAGGCAGGCA 0.388 NaN 0 0 0 0.01441 0 38 94 SPATS2L 26010 broad.mit.edu 37 2 201305422 201305422 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:201305422C>T uc002uvn.3 + 8 1055 c.703C>T c.(703-705)CTA>TTA p.L235L SPATS2L_uc010fst.2_Silent_p.L235L|SPATS2L_uc002uvo.3_Silent_p.L175L|SPATS2L_uc002uvp.3_Silent_p.L235L|SPATS2L_uc002uvq.3_Silent_p.L166L|SPATS2L_uc002uvr.3_Silent_p.L235L|SPATS2L_uc010zhc.1_Silent_p.L265L NM_015535 NP_056350 Q9NUQ6 SPS2L_HUMAN SPATS2-like protein isoform a 235 cytoplasm|nucleolus ovary(2)|pancreas(1) 3 CACCGTTTCTCTAACTAGATA 0.373 NaN 0 0 0 0.010504 0 21 38 CASP8 841 broad.mit.edu 37 2 202149751 202149751 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:202149751C>T uc002uxr.1 + 9 1224 c.1015C>T c.(1015-1017)CAG>TAG p.Q339* CASP8_uc002uxp.1_Nonsense_Mutation_p.Q356*|CASP8_uc002uxq.1_Nonsense_Mutation_p.Q324*|CASP8_uc002uxt.1_Nonsense_Mutation_p.Q398*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.Q324*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.Q255* NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 339 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 GCTGACATCTCAGTTCACTGG 0.478 NaN HNSCC(4;0.00038) 0 0 0 0.010771 0 38 109 ALS2CR12 130540 broad.mit.edu 37 2 202163981 202163981 + Missense_Mutation SNP C C T rs150075649 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:202163981C>T uc010ftg.2 - 12 1366 c.922G>A c.(922-924)GAG>AAG p.E308K ALS2CR12_uc002uya.3_Missense_Mutation_p.E308K|ALS2CR12_uc010fth.2_RNA NM_139163 NP_631902 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 308 Potential. regulation of GTPase activity protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 TTTCTCAGCTCTTCTAATTGC 0.368 NaN 0 0 0 0.005443 0 25 67 ALS2CR12 130540 broad.mit.edu 37 2 202164015 202164015 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:202164015C>G uc010ftg.2 - 12 1332 c.888G>C c.(886-888)TTG>TTC p.L296F ALS2CR12_uc002uya.3_Missense_Mutation_p.L296F|ALS2CR12_uc010fth.2_RNA NM_139163 NP_631902 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 296 Potential. regulation of GTPase activity protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 GATGTTGTTTCAAGAGCTCCT 0.378 NaN 0 0 0 0.003954 0 23 66 CDK15 65061 broad.mit.edu 37 2 202755540 202755540 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:202755540C>T uc002uyt.2 + 13 1262 c.1213C>T c.(1213-1215)CTA>TTA p.L405L CDK15_uc002uys.2_Silent_p.L360L|CDK15_uc010ftn.1_Silent_p.L360L|CDK15_uc002uyu.1_RNA NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 411 ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) AGGAGTGAGGCTAAAGCCAGA 0.443 NaN 0 0 0 0.010818 0 22 42 PARD3B 117583 broad.mit.edu 37 2 206023472 206023472 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:206023472C>G uc002var.1 + 11 1668 c.1461C>G c.(1459-1461)CTC>CTG p.L487L PARD3B_uc010fub.1_Silent_p.L487L|PARD3B_uc002vao.1_Silent_p.L487L|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Silent_p.L487L NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 487 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GCTGTGCACTCTCTCTGGAGA 0.463 NaN 0 0 0 0.004289 0 32 113 PARD3B 117583 broad.mit.edu 37 2 206023538 206023538 + Silent SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:206023538C>A uc002var.1 + 11 1734 c.1527C>A c.(1525-1527)CTC>CTA p.L509L PARD3B_uc010fub.1_Silent_p.L509L|PARD3B_uc002vao.1_Silent_p.L509L|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Silent_p.L509L NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 509 PDZ 3. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CTGCTGGCCTCGGGGTGAGCT 0.488 NaN 1 0 9.04412e-07 0.004656 9.42749e-07 19 69 PARD3B 117583 broad.mit.edu 37 2 206023564 206023564 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:206023564C>G uc002var.1 + 11 1760 c.1553C>G c.(1552-1554)TCC>TGC p.S518C PARD3B_uc010fub.1_Missense_Mutation_p.S518C|PARD3B_uc002vao.1_Missense_Mutation_p.S518C|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.S518C NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 518 PDZ 3. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GGGAACAAATCCAGAGAAACT 0.473 NaN 0 0 0 0.008871 0 13 60 PARD3B 117583 broad.mit.edu 37 2 206023598 206023598 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:206023598C>G uc002var.1 + 11 1794 c.1587C>G c.(1585-1587)ATC>ATG p.I529M PARD3B_uc010fub.1_Missense_Mutation_p.I529M|PARD3B_uc002vao.1_Missense_Mutation_p.I529M|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.I529M NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 529 PDZ 3. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GGATTTTTATCAAATCCATCA 0.453 NaN 0 0 0 0.004007 0 8 51 PTH2R 5746 broad.mit.edu 37 2 209358298 209358298 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:209358298G>A uc002vdb.2 + 13 1780 c.1567G>A c.(1567-1569)GAT>AAT p.D523N PTH2R_uc010zjb.1_Missense_Mutation_p.D534N|PTH2R_uc010fuo.1_Intron NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 523 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) GCAGGGAGATGATATTCTAAT 0.493 NaN 0 0 0 0.00333 0 26 55 SPEG 10290 broad.mit.edu 37 2 220337739 220337739 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:220337739C>G uc010fwg.2 + 16 4068 c.4068C>G c.(4066-4068)ATC>ATG p.I1356M NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1356 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TCCAGCACATCTTCCGGGTCC 0.667 NaN 0 0 0 0.00499 0 15 56 SPHKAP 80309 broad.mit.edu 37 2 228855860 228855860 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:228855860C>G uc002vpq.2 - 11 4862 c.4815G>C c.(4813-4815)CAG>CAC p.Q1605H SPHKAP_uc002vpp.2_Missense_Mutation_p.Q1576H|SPHKAP_uc010zlx.1_Intron NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1605 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) GCAGGCTCCTCTGGGGGCTGG 0.577 NaN 0 0 0 0.013537 0 12 36 SPHKAP 80309 broad.mit.edu 37 2 228882210 228882210 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:228882210C>G uc002vpq.2 - 7 3407 c.3360G>C c.(3358-3360)TCG>TCC p.S1120S SPHKAP_uc002vpp.2_Silent_p.S1120S|SPHKAP_uc010zlx.1_Silent_p.S1120S NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1120 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) TCTCACAGCTCGACTGCTTGG 0.542 NaN 0 0 0 0.00308 0 7 24 EIF4E2 9470 broad.mit.edu 37 2 233431865 233431865 + Silent SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:233431865A>G uc002vta.2 + 6 684 c.606A>G c.(604-606)CGA>CGG p.R202R EIF4E2_uc002vtb.1_Silent_p.R202R|EIF4E2_uc010zmi.1_Silent_p.R157R NM_004846 NP_004837 O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E 202 regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CACTTCGGCGAGTGCTTAACC 0.488 NaN 0 0 0 0.01441 0 49 146 ZCCHC3 85364 broad.mit.edu 37 20 279262 279262 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:279262G>C uc002wdf.2 + 2 1056 c.1032G>C c.(1030-1032)ATG>ATC p.M344I ZCCHC3_uc002wdg.2_RNA NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 345 CCHC-type 1. nucleic acid binding|zinc ion binding 0 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) GGACCCACATGAGCGGCAGCT 0.637 NaN 0 0 0 0.003954 0 23 80 C20orf7 79133 broad.mit.edu 37 20 13765904 13765904 + Nonsense_Mutation SNP G G T rs147117631 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:13765904G>T uc002wom.2 + 1 223 c.190G>T c.(190-192)GAG>TAG p.E64* ESF1_uc002woj.2_5'Flank|ESF1_uc002wok.1_5'Flank|C20orf7_uc002wol.1_Nonsense_Mutation_p.E64*|C20orf7_uc002won.2_Nonsense_Mutation_p.E64*|C20orf7_uc002woo.2_RNA NM_024120 NP_077025 Q5TEU4 CT007_HUMAN hypothetical protein LOC79133 isoform 1 64 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity 0 Myeloproliferative disorder(85;0.00878) CCGGCAGCCCGAGCCGACCAA 0.473 NaN 1 0 0.004672 0.004672 0.00479611 3 18 SEC23B 10483 broad.mit.edu 37 20 18508212 18508212 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:18508212C>G uc002wqz.1 + 9 1509 c.1066C>G c.(1066-1068)CAA>GAA p.Q356E SEC23B_uc002wra.1_Missense_Mutation_p.Q356E|SEC23B_uc002wrb.1_Missense_Mutation_p.Q356E|SEC23B_uc010zsb.1_Missense_Mutation_p.Q338E|SEC23B_uc002wrc.1_Missense_Mutation_p.Q356E NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 356 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 TGCCCTTGATCAAACTGGACT 0.408 NaN 0 0 0 0.01441 0 74 297 SEC23B 10483 broad.mit.edu 37 20 18513307 18513307 + Splice_Site SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:18513307G>C uc002wqz.1 + 11 1677 c.1234_splice c.e11-1 p.T412_splice SEC23B_uc002wra.1_Splice_Site_p.T412_splice|SEC23B_uc002wrb.1_Splice_Site_p.T412_splice|SEC23B_uc010zsb.1_Splice_Site_p.T394_splice|SEC23B_uc002wrc.1_Splice_Site_p.T412_splice NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 ATTTGTTATAGACCTCTCGGG 0.413 NaN 0 0 0 0.012319 0 18 57 C20orf185 359710 broad.mit.edu 37 20 31647285 31647285 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:31647285C>G uc002wym.1 + 3 383 c.383C>G c.(382-384)TCC>TGC p.S128C NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 128 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 ATGCATTGCTCTGGGTGAGTG 0.602 NaN 0 0 0 0.004672 0 3 7 EPB41L1 2036 broad.mit.edu 37 20 34797558 34797558 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:34797558C>G uc002xfb.2 + 15 1988 c.1817C>G c.(1816-1818)TCC>TGC p.S606C EPB41L1_uc002xeu.2_Missense_Mutation_p.S532C|EPB41L1_uc010zvo.1_Missense_Mutation_p.S606C|EPB41L1_uc002xev.2_Missense_Mutation_p.S606C|EPB41L1_uc002xew.2_Missense_Mutation_p.S497C|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.S532C|EPB41L1_uc010gfq.2_Missense_Mutation_p.S705C NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 606 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) CGCAAGTGCTCCAGCATCACG 0.612 NaN 0 0 0 0.006122 0 17 42 R3HDML 140902 broad.mit.edu 37 20 42969880 42969880 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:42969880C>T uc002xls.1 + 2 478 c.306C>T c.(304-306)ACC>ACT p.T102T NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like precursor 102 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CCTGGGCCACCCAGTGCATCT 0.587 NaN 0 0 0 0.008361 0 25 54 SLC9A8 23315 broad.mit.edu 37 20 48500483 48500483 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:48500483C>T uc002xuv.1 + 14 1581 c.1371C>T c.(1369-1371)CTC>CTT p.L457L SLC9A8_uc010zym.1_Silent_p.L157L|SLC9A8_uc010gic.2_Silent_p.L157L|SLC9A8_uc010gid.2_Silent_p.L81L NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 457 Helical; (Potential). Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TCATCGTGCTCTTCACCATCC 0.632 NaN 0 0 0 0.00632 0 26 120 LAMA5 3911 broad.mit.edu 37 20 60897153 60897153 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:60897153C>G uc002ycq.2 - 48 6485 c.6418G>C c.(6418-6420)GAG>CAG p.E2140Q NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2140 Laminin EGF-like 22. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGCAGCGCTCCCCGCTGAGC 0.692 NaN 0 0 0 0.004482 0 9 19 C20orf11 54994 broad.mit.edu 37 20 61574870 61574870 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:61574870C>T uc002ydy.2 + 4 516 c.339C>T c.(337-339)ATC>ATT p.I113I NM_017896 NP_060366 Q9NWU2 CT011_HUMAN chromosome 20 open reading frame 11 113 CTLH. nucleus protein binding 0 Breast(26;5.68e-08) TCGAGCTGATCCGCCAGCGGG 0.622 NaN 0 0 0 0.004007 0 15 44 TIAM1 7074 broad.mit.edu 37 21 32519223 32519223 + Silent SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:32519223G>T uc002yow.1 - 21 3937 c.3465C>A c.(3463-3465)GTC>GTA p.V1155V TIAM1_uc011adk.1_Silent_p.V1155V|TIAM1_uc011adl.1_Silent_p.V1095V NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1155 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CTTTCACCAGGACCTTGGGAA 0.527 NaN 1 0 1.11149e-13 0.008291 1.18369e-13 9 28 TIAM1 7074 broad.mit.edu 37 21 32519296 32519296 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:32519296G>A uc002yow.1 - 21 3864 c.3392C>T c.(3391-3393)TCA>TTA p.S1131L TIAM1_uc011adk.1_Missense_Mutation_p.S1131L|TIAM1_uc011adl.1_Missense_Mutation_p.S1071L NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1131 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 ATACAGGAATGATCCCCCCAG 0.502 NaN 0 0 0 0.00499 0 15 34 CRYZL1 9946 broad.mit.edu 37 21 34975814 34975814 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:34975814C>T uc011adw.1 - 7 541 c.361G>A c.(361-363)GAA>AAA p.E121K DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.E145K|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA NM_145858 NP_665857 O95825 QORL1_HUMAN crystallin, zeta-like 1 121 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding 0 CCTGCTGCTTCCGTCCATGTG 0.333 NaN 0 0 0 0.008871 0 15 63 TTC3 7267 broad.mit.edu 37 21 38568048 38568048 + Missense_Mutation SNP A A T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:38568048A>T uc002yvz.2 + 42 5395 c.5290A>T c.(5290-5292)ACT>TCT p.T1764S TTC3_uc002ywa.2_Missense_Mutation_p.T1764S|TTC3_uc002ywb.2_Missense_Mutation_p.T1764S|TTC3_uc010gnf.2_Missense_Mutation_p.T1529S|TTC3_uc002ywc.2_Missense_Mutation_p.T1454S NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1764 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AAGCGACGTGACTGGAAACCA 0.587 NaN 0 0 0 0.007413 0 18 105 PRDM15 63977 broad.mit.edu 37 21 43291624 43291624 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:43291624G>A uc002yzq.1 - 4 631 c.520C>T c.(520-522)CGC>TGC p.R174C PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCAGGATTGCGTCGCAGGCCT 0.592 NaN 0 0 0 0.007291 0 24 61 C21orf2 755 broad.mit.edu 37 21 45751736 45751736 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:45751736C>G uc002zep.2 - 5 743 c.535G>C c.(535-537)GAG>CAG p.E179Q C21orf2_uc002zeo.1_Missense_Mutation_p.E138Q|C21orf2_uc002zeq.2_Missense_Mutation_p.E179Q|C21orf2_uc002zer.2_Missense_Mutation_p.E179Q NM_004928 NP_004919 O43822 CU002_HUMAN hypothetical protein LOC755 179 0 Colorectal(79;0.0806) GTTGCCTCCTCCTCGCTGTCC 0.692 NaN 0 0 0 0.009096 0 3 12 GAB4 128954 broad.mit.edu 37 22 17447110 17447110 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:17447110G>A uc002zlw.2 - 6 1276 c.1168C>T c.(1168-1170)CTT>TTT p.L390F GAB4_uc010gqs.1_3'UTR NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 390 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) AAGCGAACAAGACATGAGCCC 0.607 NaN 0 0 0 0.004007 0 15 76 THAP7 80764 broad.mit.edu 37 22 21354959 21354959 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:21354959G>T uc002ztr.1 - 4 384 c.354C>A c.(352-354)AGC>AGA p.S118R THAP7_uc002zts.1_Missense_Mutation_p.S118R|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank NM_001008695 NP_001008695 Q9BT49 THAP7_HUMAN THAP domain containing 7 isoform 2 118 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding 0 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GTCTGAGCCGGCTGACTTCAG 0.612 NaN 1 0 9.16793e-09 0.00499 9.64951e-09 17 251 ZNF280B 140883 broad.mit.edu 37 22 22842526 22842526 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:22842526C>T uc002zwc.1 - 4 1974 c.1198G>A c.(1198-1200)GAA>AAA p.E400K LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TAGGGCATTTCGCCAGGCTTA 0.433 NaN 0 0 0 0.013114 0 42 236 CYTSA 23384 broad.mit.edu 37 22 24761541 24761541 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:24761541G>A uc002zzw.2 + 13 3232 c.2925G>A c.(2923-2925)CAG>CAA p.Q975Q CYTSA_uc002zzv.3_Silent_p.Q975Q|CYTSA_uc011ajq.1_Silent_p.Q975Q NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 975 cell cycle|cell division 0 CGTCTCCACAGCTTTCCCTGT 0.512 NaN 0 0 0 0.00874 0 35 162 PISD 23761 broad.mit.edu 37 22 32017073 32017073 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:32017073G>C uc003alm.3 - 6 760 c.753C>G c.(751-753)CTC>CTG p.L251L PISD_uc003alk.2_Silent_p.L217L|PISD_uc003all.2_Silent_p.L216L|PISD_uc011alr.1_Silent_p.L216L|PISD_uc003aln.3_Silent_p.L251L NM_014338 NP_055153 Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 251 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(2)|ovary(1) 3 Phosphatidylserine(DB00144) CACAGTGATAGAGCTCATTCC 0.627 NaN OREG0003530 type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.00632 0 24 77 SLC5A4 6527 broad.mit.edu 37 22 32626965 32626965 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:32626965C>G uc003ami.2 - 10 1121 c.1119G>C c.(1117-1119)CTG>CTC p.L373L NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 373 Extracellular (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CTTGGGGCATCAGTTCCAGCA 0.537 NaN 0 0 0 0.006122 0 14 44 RASD2 23551 broad.mit.edu 37 22 35947615 35947615 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:35947615C>T uc003anx.2 + 3 542 c.337C>T c.(337-339)CAG>TAG p.Q113* RASD2_uc003any.2_Nonsense_Mutation_p.Q113* NM_014310 NP_055125 Q96D21 RHES_HUMAN RASD family, member 2 precursor 113 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity lung(2)|skin(1) 3 CAAGCGCCTTCAGAAGCAGAT 0.582 NaN 0 0 0 0.004656 0 26 42 POLDIP3 84271 broad.mit.edu 37 22 42998059 42998059 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:42998059G>A uc003bcu.2 - 3 553 c.454C>T c.(454-456)CCA>TCA p.P152S POLDIP3_uc011app.1_Missense_Mutation_p.P73S|POLDIP3_uc003bcv.2_Intron|POLDIP3_uc011apq.1_Missense_Mutation_p.P169S|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_Intron|POLDIP3_uc010gzb.1_Intron NM_032311 NP_115687 Q9BY77 PDIP3_HUMAN DNA polymerase delta interacting protein 3 152 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding 0 TTCTGCTGTGGAACCTGGAAA 0.507 NaN 0 0 0 0.01441 0 44 71 ATP2B2 491 broad.mit.edu 37 3 10379906 10379906 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:10379906C>T uc003bvt.2 - 22 3813 c.3374G>A c.(3373-3375)CGG>CAG p.R1125Q ATP2B2_uc003bvv.2_Missense_Mutation_p.R1080Q|ATP2B2_uc003bvw.2_Missense_Mutation_p.R1080Q|ATP2B2_uc003bvs.2_5'Flank|ATP2B2_uc010hdo.2_Missense_Mutation_p.R830Q NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 1125 Calmodulin-binding subdomain A (By similarity).|Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 GATCTGGCCCCGCCGCAGCTC 0.682 NaN 0 0 0 0.00245 0 12 233 ZNF385D 79750 broad.mit.edu 37 3 21706481 21706481 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:21706481C>T uc003cce.2 - 2 470 c.62G>A c.(61-63)CGT>CAT p.R21H ZNF385D_uc010hfb.1_Intron NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 21 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 GGCTGGTGGACGGACAAGGGC 0.517 NaN 0 0 0 0.004007 0 15 45 VILL 50853 broad.mit.edu 37 3 38042961 38042961 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:38042961G>A uc003chj.2 + 12 1483 c.1197G>A c.(1195-1197)CAG>CAA p.Q399Q VILL_uc003chl.2_Silent_p.Q399Q|VILL_uc010hgu.2_Silent_p.Q229Q NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 399 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GGTGCATCCAGGACTTACACA 0.602 NaN 0 0 0 0.013537 0 12 79 VILL 50853 broad.mit.edu 37 3 38043072 38043072 + Silent SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:38043072G>T uc003chj.2 + 12 1594 c.1308G>T c.(1306-1308)CTG>CTT p.L436L VILL_uc003chl.2_Silent_p.L436L|VILL_uc010hgu.2_Silent_p.L266L NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 436 Gelsolin-like 4. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) AGTACATCCTGTACCTATGGC 0.607 NaN 1 0 1.33834e-09 0.007413 1.41414e-09 16 96 VILL 50853 broad.mit.edu 37 3 38043288 38043288 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:38043288G>A uc003chj.2 + 13 1702 c.1416G>A c.(1414-1416)GTG>GTA p.V472V VILL_uc003chl.2_Silent_p.V472V|VILL_uc010hgu.2_Silent_p.V302V NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 472 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) AGGAGCATGTGACCATGGGCA 0.607 NaN 0 0 0 0.013537 0 10 68 WDR48 57599 broad.mit.edu 37 3 39135477 39135477 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:39135477G>A uc003cit.2 + 18 1868 c.1858G>A c.(1858-1860)GAA>AAA p.E620K WDR48_uc011ayt.1_Missense_Mutation_p.E611K|WDR48_uc011ayu.1_Missense_Mutation_p.E538K|WDR48_uc011ayv.1_Missense_Mutation_p.E345K|WDR48_uc003ciu.2_RNA NM_020839 NP_065890 Q8TAF3 WDR48_HUMAN WD repeat domain 48 620 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TTCTAATAATGAAAAACCAGG 0.383 NaN 0 0 0 0.008291 0 9 23 WDR48 57599 broad.mit.edu 37 3 39135489 39135489 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:39135489G>A uc003cit.2 + 18 1880 c.1870G>A c.(1870-1872)GAA>AAA p.E624K WDR48_uc011ayt.1_Missense_Mutation_p.E615K|WDR48_uc011ayu.1_Missense_Mutation_p.E542K|WDR48_uc011ayv.1_Missense_Mutation_p.E349K|WDR48_uc003ciu.2_RNA NM_020839 NP_065890 Q8TAF3 WDR48_HUMAN WD repeat domain 48 624 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AAAACCAGGAGAACAGGAAAA 0.388 NaN 0 0 0 0.006214 0 9 25 CCR8 1237 broad.mit.edu 37 3 39374203 39374203 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:39374203G>A uc010hhr.2 + 2 519 c.381G>A c.(379-381)ATG>ATA p.M127I CCR8_uc003cjm.2_Missense_Mutation_p.M44I NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 127 Helical; Name=3; (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) TCACCCTCATGAGTGTGGACA 0.512 NaN 0 0 0 0.01441 0 75 200 CCR8 1237 broad.mit.edu 37 3 39374254 39374254 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:39374254G>A uc010hhr.2 + 2 570 c.432G>A c.(430-432)GTG>GTA p.V144V CCR8_uc003cjm.2_Silent_p.V61V NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 144 Cytoplasmic (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) CCCTAAAGGTGAGGACGATCA 0.502 NaN 0 0 0 0.01441 0 65 197 TRAK1 22906 broad.mit.edu 37 3 42242499 42242499 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:42242499C>A uc003cky.2 + 12 1596 c.1380C>A c.(1378-1380)GAC>GAA p.D460E TRAK1_uc011azh.1_Missense_Mutation_p.D460E|TRAK1_uc011azi.1_Missense_Mutation_p.D460E|TRAK1_uc003ckz.3_Missense_Mutation_p.D386E|TRAK1_uc011azj.1_Missense_Mutation_p.D386E|TRAK1_uc003cla.2_Missense_Mutation_p.D402E NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 460 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 TCGTCCTCGACAACAAGACCA 0.577 NaN 1 0 3.00307e-07 0.008361 3.14247e-07 29 86 NKTR 4820 broad.mit.edu 37 3 42679601 42679601 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:42679601G>C uc003clo.2 + 13 2552 c.2405G>C c.(2404-2406)AGA>ACA p.R802T NKTR_uc003clm.1_Missense_Mutation_p.R549T|NKTR_uc003clp.2_Missense_Mutation_p.R549T|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R692T|NKTR_uc003clr.1_Missense_Mutation_p.R549T|NKTR_uc003cls.2_Missense_Mutation_p.R502T NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 802 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) AGCGAGAGCAGATCATCTTTA 0.423 NaN 0 0 0 0.004878 0 36 84 C3orf39 84892 broad.mit.edu 37 3 43121671 43121671 + Missense_Mutation SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:43121671T>C uc003cmq.1 - 2 1394 c.1253A>G c.(1252-1254)GAC>GGC p.D418G C3orf39_uc003cmr.1_Missense_Mutation_p.D418G NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN glycosyltransferase precursor 418 extracellular region transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) CTCAGCCCGGTCCAGATGGGT 0.612 NaN 0 0 0 0.00308 0 6 24 ZDHHC3 51304 broad.mit.edu 37 3 44968315 44968315 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:44968315C>T uc003cod.2 - 8 1124 c.850G>A c.(850-852)GAG>AAG p.E284K ZDHHC3_uc003cog.2_Missense_Mutation_p.E256K|ZDHHC3_uc011bad.1_Intron NM_016598 NP_057682 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 isoform 2 284 Cytoplasmic (Potential). Golgi membrane|integral to membrane zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) CATCTTCTCTCTTCCTTTTTC 0.478 NaN 0 0 0 0.008291 0 9 52 DNAH1 25981 broad.mit.edu 37 3 52429361 52429361 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:52429361C>G uc011bef.1 + 69 11267 c.11006C>G c.(11005-11007)TCC>TGC p.S3669C DNAH1_uc003ddv.2_Missense_Mutation_p.S527C NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3734 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GACTCCAACTCCACCACACCC 0.567 NaN 0 0 0 0.00499 0 12 44 PBRM1 55193 broad.mit.edu 37 3 52651349 52651349 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:52651349C>T uc003des.2 - 14 1759 c.1747G>A c.(1747-1749)GAA>AAA p.E583K PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E583K|PBRM1_uc003der.2_Missense_Mutation_p.E551K|PBRM1_uc003det.2_Missense_Mutation_p.E598K|PBRM1_uc003deu.2_Missense_Mutation_p.E598K|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E583K|PBRM1_uc010hmk.1_Missense_Mutation_p.E583K|PBRM1_uc003dey.2_Missense_Mutation_p.E583K|PBRM1_uc003dez.1_Missense_Mutation_p.E583K|PBRM1_uc003dfb.1_Missense_Mutation_p.E496K|PBRM1_uc003dfc.2_5'Flank NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 583 Bromo 4. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ATTCCCTCTTCACCAGCATAT 0.443 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast 0 0 0 0.004656 0 25 44 FEZF2 55079 broad.mit.edu 37 3 62355901 62355901 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:62355901C>G uc003dlh.2 - 4 1444 c.1237G>C c.(1237-1239)GAC>CAC p.D413H FEZF2_uc003dli.2_Missense_Mutation_p.D413H NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 413 transcription, DNA-dependent nucleus zinc ion binding lung(1) 1 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) GGCTTCTTGTCGTTGTGGGTG 0.522 NaN 0 0 0 0.006999 0 36 131 ADAMTS9 56999 broad.mit.edu 37 3 64507920 64507920 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:64507920A>G uc003dmg.2 - 39 5767 c.5735T>C c.(5734-5736)GTA>GCA p.V1912A ADAMTS9_uc011bfo.1_Missense_Mutation_p.V1884A|ADAMTS9_uc011bfp.1_Missense_Mutation_p.V823A NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1912 GON. 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) GCATTTCCCTACGACTCGGGT 0.488 NaN 0 0 0 0.00632 0 23 84 RYBP 23429 broad.mit.edu 37 3 72428484 72428484 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:72428484C>G uc003dpe.2 - 2 340 c.223G>C c.(223-225)GAA>CAA p.E75Q NM_012234 NP_036366 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 85 Lys-rich. apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding 0 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) TCCTGCTTTTCAACTTTCTCC 0.418 NaN 0 0 0 0.006122 0 16 79 CADM2 253559 broad.mit.edu 37 3 86010672 86010672 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:86010672G>A uc003dqj.2 + 7 1444 c.818G>A c.(817-819)CGA>CAA p.R273Q CADM2_uc003dqk.2_Missense_Mutation_p.R282Q|CADM2_uc003dql.2_Missense_Mutation_p.R275Q NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 273 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GATCCTGACCGAATGGTTGTG 0.413 NaN 0 0 0 0.01441 0 44 149 ST3GAL6 10402 broad.mit.edu 37 3 98489793 98489793 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:98489793C>G uc003dsz.2 + 3 396 c.160C>G c.(160-162)CTG>GTG p.L54V ST3GAL6_uc003dsy.2_5'UTR|ST3GAL6_uc003dta.2_5'UTR|ST3GAL6_uc003dtb.2_Intron|ST3GAL6_uc003dtc.2_Missense_Mutation_p.L54V|ST3GAL6_uc010hpd.2_Missense_Mutation_p.L107V NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 54 Lumenal (Potential). amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 TTTTGCCTCTCTGCTGAGGTA 0.353 NaN 0 0 0 0.00308 0 7 41 KPNA1 3836 broad.mit.edu 37 3 122152626 122152626 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:122152626C>T uc003efd.1 - 12 1168 c.1132G>A c.(1132-1134)GAT>AAT p.D378N KPNA1_uc003efb.1_Missense_Mutation_p.D177N|KPNA1_uc003efc.1_Missense_Mutation_p.D177N|KPNA1_uc011bjr.1_Missense_Mutation_p.D177N|KPNA1_uc010hrh.2_Missense_Mutation_p.D177N|KPNA1_uc003efe.2_Missense_Mutation_p.D378N NM_002264 NP_002255 P52294 IMA1_HUMAN karyopherin alpha 1 378 ARM 8.|Binding to RAG1.|NLS binding site (minor) (By similarity). DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.0898) ATGTTGGCATCTATCACAGTC 0.323 NaN 0 0 0 0.001168 0 5 31 KALRN 8997 broad.mit.edu 37 3 124356151 124356151 + Splice_Site SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:124356151G>A uc003ehg.2 + 37 5788 c.5661_splice c.e37+1 p.L1887_splice KALRN_uc003ehi.2_Intron|KALRN_uc003ehk.2_Splice_Site_p.L190_splice|KALRN_uc011bjz.1_Splice_Site|KALRN_uc003ehj.2_Intron NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 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 AAACAAGCTGGTAAGTGGGGG 0.522 NaN 0 0 0 0.008291 0 8 66 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:126707544T>G uc003ejg.2 + 1 43 c.39T>G c.(37-39)GGT>GGG p.G13G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.567 NaN 0 0 0 0.001855 0 5 28 BFSP2 8419 broad.mit.edu 37 3 133166243 133166243 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:133166243G>A uc003epn.1 + 2 710 c.572G>A c.(571-573)AGA>AAA p.R191K uc003epo.2_Intron NM_003571 NP_003562 Q13515 BFSP2_HUMAN phakinin 191 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens 0 TTTAAAGAGAGGTAATGTCTT 0.522 NaN 0 0 0 0.003163 0 13 22 TOPBP1 11073 broad.mit.edu 37 3 133374177 133374177 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:133374177C>T uc003eps.2 - 6 831 c.699G>A c.(697-699)TTG>TTA p.L233L NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 233 BRCT 2. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 CATTCATTTTCAATTGTCCCA 0.363 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.006999 0 34 77 TXNDC6 347736 broad.mit.edu 37 3 138024920 138024920 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:138024920C>G uc003esg.2 - 8 590 c.562G>C c.(562-564)GAA>CAA p.E188Q TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.E103Q|TXNDC6_uc003ese.1_Missense_Mutation_p.E127Q NM_178130 NP_835231 Q86XW9 TXND6_HUMAN thioredoxin domain containing 6 188 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity breast(3)|ovary(1)|pancreas(1) 5 GTTAGAATTTCAAACCCAGCT 0.353 NaN 0 0 0 0.013537 0 11 66 MRPS22 56945 broad.mit.edu 37 3 139062950 139062950 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:139062950C>G uc003etb.2 + 1 90 c.82C>G c.(82-84)CGA>GGA p.R28G MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.R28G|MRPS22_uc003ete.2_5'Flank NM_020191 NP_064576 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 28 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(2)|skin(1) 3 TTTCCGGGCTCGAATCCAGCC 0.617 NaN 0 0 0 0.009096 0 4 22 COPB2 9276 broad.mit.edu 37 3 139087069 139087069 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:139087069A>G uc003etf.3 - 13 1593 c.1463T>C c.(1462-1464)CTT>CCT p.L488P COPB2_uc011bmv.1_Missense_Mutation_p.L459P|COPB2_uc010hui.2_Missense_Mutation_p.L459P NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 488 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 CAGATACTTAAGGATAAAAAA 0.393 NaN 0 0 0 0.006214 0 9 52 MME 4311 broad.mit.edu 37 3 154855989 154855989 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:154855989G>C uc010hvr.1 + 9 1030 c.819G>C c.(817-819)ATG>ATC p.M273I MME_uc003fab.1_Missense_Mutation_p.M273I|MME_uc003fac.1_Missense_Mutation_p.M273I|MME_uc003fad.1_Missense_Mutation_p.M273I|MME_uc003fae.1_Missense_Mutation_p.M273I NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 273 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CTTTGGAAATGAATAAAGTTA 0.358 NaN 0 0 0 0.001855 0 14 73 ZBBX 79740 broad.mit.edu 37 3 167016138 167016138 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:167016138G>T uc003fep.2 - 18 2157 c.1834C>A c.(1834-1836)CAT>AAT p.H612N ZBBX_uc011bpc.1_Missense_Mutation_p.H612N|ZBBX_uc003feq.2_Missense_Mutation_p.H583N NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 612 intracellular zinc ion binding ovary(2) 2 TCTAAACGATGAGAAGGAAGT 0.333 NaN 1 0 1.52009e-12 0.003163 1.61566e-12 14 66 LRRC31 79782 broad.mit.edu 37 3 169557820 169557820 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:169557820C>G uc003fgc.1 - 9 1686 c.1609G>C c.(1609-1611)GAC>CAC p.D537H LRRC31_uc010hwp.1_Missense_Mutation_p.D481H NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 537 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTATCTTGGTCAAAGCATTCT 0.403 NaN 0 0 0 0.012319 0 20 51 ATP11B 23200 broad.mit.edu 37 3 182566341 182566341 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:182566341G>C uc003flb.2 + 10 1104 c.847G>C c.(847-849)GAA>CAA p.E283Q NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 283 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ATCTGCAGTAGAAAAGTAAGA 0.249 NaN 0 0 0 0.001855 0 13 35 PSMD2 5708 broad.mit.edu 37 3 184026528 184026528 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:184026528G>A uc003fnn.1 + 21 2610 c.2577G>A c.(2575-2577)CCG>CCA p.P859P PSMD2_uc011brj.1_Silent_p.P700P|PSMD2_uc011brk.1_Silent_p.P729P NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 859 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) CTGGCAAGCCGAAGACTATCA 0.547 NaN OREG0015948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006999 0 35 53 TCTEX1D2 255758 broad.mit.edu 37 3 196044975 196044975 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:196044975C>T uc003fwi.2 - 1 185 c.49G>A c.(49-51)GAG>AAG p.E17K TM4SF19_uc003fwj.2_Intron|uc003fwk.1_5'Flank NM_152773 NP_689986 Q8WW35 TC1D2_HUMAN Tctex1 domain containing 2 17 protein binding ovary(1)|breast(1) 2 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) TTCTCAGCCTCAGGCACCCCG 0.662 NaN 0 0 0 0.009096 0 3 10 PIGG 54872 broad.mit.edu 37 4 499705 499705 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:499705G>C uc003gak.3 + 3 695 c.559G>C c.(559-561)GAT>CAT p.D187H PIGG_uc003gaj.3_Missense_Mutation_p.D187H|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Missense_Mutation_p.D98H|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.D65H|PIGG_uc003gam.2_Missense_Mutation_p.D98H|PIGG_uc003gan.2_Missense_Mutation_p.D98H NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 187 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 TTTCGTGTCAGATTACACAGA 0.338 NaN 0 0 0 0.014758 0 5 29 CC2D2A 57545 broad.mit.edu 37 4 15601285 15601285 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:15601285G>C uc010idv.2 + 37 4875 c.4630G>C c.(4630-4632)GAT>CAT p.D1544H CC2D2A_uc003gnx.2_Missense_Mutation_p.D1436H|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 1544 cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 AGATGTAGAAGATGACCACAG 0.443 NaN 0 0 0 0.00499 0 16 22 LDB2 9079 broad.mit.edu 37 4 16597454 16597454 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:16597454C>G uc003goz.2 - 3 596 c.280G>C c.(280-282)GAA>CAA p.E94Q LDB2_uc003gpa.2_Missense_Mutation_p.E94Q|LDB2_uc003gpb.2_Missense_Mutation_p.E94Q|LDB2_uc011bxh.1_Missense_Mutation_p.E94Q|LDB2_uc010iee.2_Missense_Mutation_p.E94Q|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 94 LIM domain binding|transcription cofactor activity 0 ACCCCTCCTTCAAACACAGTG 0.493 NaN 0 0 0 0.01441 0 53 40 ARAP2 116984 broad.mit.edu 37 4 36152544 36152544 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:36152544C>G uc003gsq.1 - 16 3213 c.2875G>C c.(2875-2877)GAG>CAG p.E959Q NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 959 PH 3. 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 TAGAAGTCCTCTTTGTGTATA 0.343 NaN 0 0 0 0.01441 0 58 117 GABRG1 2565 broad.mit.edu 37 4 46060594 46060594 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:46060594G>A uc003gxb.2 - 6 823 c.671C>T c.(670-672)TCC>TTC p.S224F NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 224 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CACTTCTACGGAGGGCTTTTT 0.358 NaN 0 0 0 0.001168 0 5 27 KIAA1211 57482 broad.mit.edu 37 4 57181751 57181751 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:57181751G>A uc003hbk.2 + 8 2474 c.2083G>A c.(2083-2085)GAT>AAT p.D695N KIAA1211_uc010iha.2_Missense_Mutation_p.D688N|KIAA1211_uc011bzz.1_Missense_Mutation_p.D605N|KIAA1211_uc003hbm.1_Missense_Mutation_p.D581N NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 695 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GAGGCCCGGTGATGAGTCCAC 0.592 NaN 0 0 0 0.00632 0 22 97 SRP72 6731 broad.mit.edu 37 4 57367868 57367868 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:57367868G>C uc003hbv.2 + 19 1897 c.1857G>C c.(1855-1857)GTG>GTC p.V619V SRP72_uc010ihe.2_Silent_p.V558V|SRP72_uc003hbx.2_RNA NM_006947 NP_008878 O76094 SRP72_HUMAN signal recognition particle 72kDa 619 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding ovary(1) 1 Glioma(25;0.08)|all_neural(26;0.101) GTAAAACTGTGAGCAGCCCAC 0.453 NaN 0 0 0 0.014758 0 5 36 PTPN13 5783 broad.mit.edu 37 4 87694009 87694009 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:87694009G>A uc003hpz.2 + 32 5727 c.5247G>A c.(5245-5247)TCG>TCA p.S1749S PTPN13_uc003hpy.2_Silent_p.S1754S|PTPN13_uc003hqa.2_Silent_p.S1730S|PTPN13_uc003hqb.2_Silent_p.S1558S|PTPN13_uc003hqc.1_Silent_p.S115S NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1749 Poly-Ser. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CCTCTAGTTCGATGGATAAGT 0.408 NaN 0 0 0 0.00499 0 18 98 ADH6 130 broad.mit.edu 37 4 100129920 100129920 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:100129920G>C uc003hup.3 - 6 827 c.733C>G c.(733-735)CAG>GAG p.Q245E uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.Q245E|ADH6_uc011cef.1_Missense_Mutation_p.Q36E|ADH6_uc010ile.2_Missense_Mutation_p.Q245E NM_000672 NP_000663 P28332 ADH6_HUMAN class V alcohol dehydrogenase isoform 2 245 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TTTAAGTCCTGAGGGTTGAGG 0.438 NaN 0 0 0 0.01441 0 53 257 NDST4 64579 broad.mit.edu 37 4 115760536 115760536 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:115760536G>C uc003ibu.2 - 11 2963 c.2284C>G c.(2284-2286)CAG>GAG p.Q762E NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 762 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GACATTACCTGAGAAGTAGCA 0.328 NaN 0 0 0 0.010818 0 29 63 IL21 59067 broad.mit.edu 37 4 123542141 123542141 + Missense_Mutation SNP T T A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:123542141T>A uc003ies.2 - 1 71 c.26A>T c.(25-27)GAG>GTG p.E9V uc003iet.2_RNA|IL21_uc010int.2_Missense_Mutation_p.E2V NM_021803 NP_068575 Q9HBE4 IL21_HUMAN interleukin 21 2 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding 0 GACAATCCTCTCCATGTTGCC 0.463 NaN 0 0 0 0.00499 0 14 95 MFSD8 256471 broad.mit.edu 37 4 128851881 128851881 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:128851881C>T uc003ifp.2 - 10 1118 c.955G>A c.(955-957)GAA>AAA p.E319K MFSD8_uc011cgu.1_Missense_Mutation_p.E274K|MFSD8_uc011cgv.1_Missense_Mutation_p.E281K|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_3'UTR NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 319 Helical; (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 ACAACGGCTTCAACCCCAAGA 0.318 NaN 0 0 0 0.01441 0 49 124 PCDH18 54510 broad.mit.edu 37 4 138451064 138451064 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:138451064C>T uc003ihe.3 - 1 2566 c.2179G>A c.(2179-2181)GAG>AAG p.E727K PCDH18_uc003ihf.3_Missense_Mutation_p.E720K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E507K|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 727 Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TCTTTCTTCTCGCGGTTACAC 0.458 NaN 0 0 0 0.006122 0 18 45 FBXW7 55294 broad.mit.edu 37 4 153244235 153244235 + Nonsense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:153244235G>C uc003ims.2 - 12 2071 c.1922C>G c.(1921-1923)TCA>TGA p.S641* FBXW7_uc011cii.1_Nonsense_Mutation_p.S641*|FBXW7_uc003imt.2_Nonsense_Mutation_p.S641*|FBXW7_uc011cih.1_Nonsense_Mutation_p.S465*|FBXW7_uc003imq.2_Nonsense_Mutation_p.S561*|FBXW7_uc003imr.2_Nonsense_Mutation_p.S523* NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 641 WD 7. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCCATCATCTGAGCTGGTAAT 0.428 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.006214 0 10 72 FGA 2243 broad.mit.edu 37 4 155507290 155507290 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:155507290C>T uc003iod.1 - 5 1349 c.1291G>A c.(1291-1293)GAA>AAA p.E431K FGA_uc003ioe.1_Missense_Mutation_p.E431K|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 431 By similarity. 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) ACCAGTTTTTCTGTGTGGTAC 0.507 NaN 0 0 0 0.006999 0 37 106 PALLD 23022 broad.mit.edu 37 4 169433557 169433557 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:169433557G>A uc011cjx.1 + 2 1113 c.902G>A c.(901-903)CGA>CAA p.R301Q PALLD_uc003iru.2_Missense_Mutation_p.R301Q NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 301 Ig-like C2-type 1. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CCCACTCCTCGAGTCAGGTAT 0.443 NaN Pancreatic_Cancer_Familial_Clustering_of 0 0 0 0.013537 0 12 20 HMGB2 3148 broad.mit.edu 37 4 174254744 174254744 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:174254744G>A uc011ckc.1 - 1 177 c.57C>T c.(55-57)TTC>TTT p.F19F HMGB2_uc003ita.3_Silent_p.F19F|HMGB2_uc003itb.2_Silent_p.F19F|HMGB2_uc003itc.2_Silent_p.F19F NM_001130689 NP_001124161 P26583 HMGB2_HUMAN high-mobility group box 2 19 HMG box 1. base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding 0 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) AGGTCTGCACGAAGAAGGCGT 0.582 NaN 0 0 0 0.013726 0 33 53 FRG1 2483 broad.mit.edu 37 4 190884260 190884260 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:190884260G>A uc003izs.2 + 9 944 c.753G>A c.(751-753)TTG>TTA p.L251L NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 251 Bipartite nuclear localization signal (Potential). rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GAGCCAAATTGAAAGCCGACA 0.299 NaN 0 0 0 0.006214 0 8 29 CEP72 55722 broad.mit.edu 37 5 637673 637673 + Missense_Mutation SNP G G C rs150376362 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:637673G>C uc003jbf.2 + 7 1018 c.946G>C c.(946-948)GAT>CAT p.D316H CEP72_uc011clz.1_RNA NM_018140 NP_060610 Q9P209 CEP72_HUMAN centrosomal protein 72 kDa 316 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol ovary(1) 1 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) TCAGAAGTTGGATTTGTCAGG 0.547 NaN 0 0 0 0.012319 0 20 55 TERT 7015 broad.mit.edu 37 5 1268641 1268641 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:1268641C>T uc003jcb.1 - 9 2634 c.2576G>A c.(2575-2577)CGG>CAG p.R859Q TERT_uc003jbz.1_Missense_Mutation_p.R55Q|TERT_uc003jca.1_Missense_Mutation_p.R847Q|TERT_uc003jcc.1_Missense_Mutation_p.R859Q|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 859 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCACCCGTCCCGCCGAATCCC 0.597 NaN TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 0 0 0 0.001168 0 5 49 DNAH5 1767 broad.mit.edu 37 5 13823435 13823435 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:13823435G>C uc003jfd.2 - 40 6666 c.6624C>G c.(6622-6624)CTC>CTG p.L2208L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2208 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) TATTTGGAAAGAGATCTTCAA 0.383 NaN Kartagener_syndrome 0 0 0 0.010729 0 10 122 CDH18 1016 broad.mit.edu 37 5 19591215 19591215 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:19591215G>A uc003jgc.2 - 6 1327 c.950C>T c.(949-951)TCA>TTA p.S317L CDH18_uc003jgd.2_Missense_Mutation_p.S317L|CDH18_uc011cnm.1_Missense_Mutation_p.S317L NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 317 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGTGGAGATTGAGAATATTCC 0.408 NaN 0 0 0 0.008291 0 10 129 HMGCS1 3157 broad.mit.edu 37 5 43298164 43298164 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:43298164A>G uc003jnr.3 - 4 728 c.521T>C c.(520-522)GTT>GCT p.V174A HMGCS1_uc003jnq.3_Missense_Mutation_p.V174A NM_001098272 NP_001091742 Q01581 HMCS1_HUMAN hydroxymethylglutaryl-CoA synthase 1 174 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity 0 TACTGCTCCAACTCCACCTGT 0.398 NaN 0 0 0 0.007291 0 24 95 MAN2A1 4124 broad.mit.edu 37 5 109191017 109191017 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:109191017G>C uc003kou.1 + 20 4116 c.3153G>C c.(3151-3153)TTG>TTC p.L1051F NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 1051 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TGGTTAATTTGAGAACAATAC 0.338 NaN 0 0 0 0.00499 0 14 24 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139781720 139781720 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:139781720C>T uc003lfs.1 + 1 292 c.168C>T c.(166-168)GTC>GTT p.V56V ANKHD1_uc003lfq.1_Silent_p.V56V|ANKHD1_uc003lfr.2_Silent_p.V56V|uc003lfn.2_5'Flank|ANKHD1_uc003lfp.2_Silent_p.V56V|ANKHD1_uc003lfo.2_Silent_p.V56V|ANKHD1_uc010jfk.2_Silent_p.V56V NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 56 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTCGGGAGTcggcagcagcg 0.622 NaN 0 0 0 0.004672 0 3 6 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139905682 139905682 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:139905682A>G uc003lfs.1 + 26 4718 c.4594A>G c.(4594-4596)AGG>GGG p.R1532G ANKHD1_uc003lfr.2_Missense_Mutation_p.R1532G|ANKHD1_uc003lfu.1_Missense_Mutation_p.R1012G|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R271G|ANKHD1_uc003lfw.2_Missense_Mutation_p.R170G|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1532 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGAAAAAAAGGGCCAATGT 0.423 NaN 0 0 0 0.004672 0 3 104 MGAT1 4245 broad.mit.edu 37 5 180219305 180219305 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:180219305G>A uc003mmg.3 - 2 1162 c.667C>T c.(667-669)CGG>TGG p.R223W MGAT1_uc010jlf.2_Missense_Mutation_p.R223W|MGAT1_uc010jlg.2_Missense_Mutation_p.R223W|MGAT1_uc003mmh.3_Missense_Mutation_p.R223W|MGAT1_uc010jlh.2_Missense_Mutation_p.R223W|MGAT1_uc003mmi.3_Missense_Mutation_p.R223W NM_002406 NP_002397 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein 223 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(1) 1 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGGTGGCCCGAAAGTACTCG 0.667 NaN 0 0 0 0.012319 0 22 36 MGAT1 4245 broad.mit.edu 37 5 180219511 180219511 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:180219511G>C uc003mmg.3 - 2 956 c.461C>G c.(460-462)TCC>TGC p.S154C MGAT1_uc010jlf.2_Missense_Mutation_p.S154C|MGAT1_uc010jlg.2_Missense_Mutation_p.S154C|MGAT1_uc003mmh.3_Missense_Mutation_p.S154C|MGAT1_uc010jlh.2_Missense_Mutation_p.S154C|MGAT1_uc003mmi.3_Missense_Mutation_p.S154C NM_002406 NP_002397 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein 154 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(1) 1 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTGCCGTAGGAGGCGATGGC 0.662 NaN 0 0 0 0.004656 0 23 33 DTNBP1 84062 broad.mit.edu 37 6 15627595 15627595 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:15627595C>T uc003nbm.2 - 5 505 c.334G>A c.(334-336)GAA>AAA p.E112K DTNBP1_uc003nbl.2_Missense_Mutation_p.E31K|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.E112K|DTNBP1_uc010jph.2_Missense_Mutation_p.E99K NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 isoform a 112 Potential. actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding 0 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) GTCATGGATTCTAAGTCTGCG 0.453 NaN Hermansky-Pudlak_syndrome 0 0 0 0.003163 0 14 55 KIF13A 63971 broad.mit.edu 37 6 17850667 17850667 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:17850667C>T uc003ncg.3 - 8 709 c.604G>A c.(604-606)GAG>AAG p.E202K KIF13A_uc003ncf.2_Missense_Mutation_p.E202K|KIF13A_uc003nch.3_Missense_Mutation_p.E202K|KIF13A_uc003nci.3_Missense_Mutation_p.E202K NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 202 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTATTTCCCTCAGACATCAAT 0.413 NaN 0 0 0 0.001168 0 6 8 E2F3 1871 broad.mit.edu 37 6 20490417 20490417 + Nonsense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:20490417C>G uc003nda.2 + 7 1481 c.1154C>G c.(1153-1155)TCA>TGA p.S385* NM_001949 NP_001940 O00716 E2F3_HUMAN E2F transcription factor 3 385 G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) TCAACCAACTCAGGACATAGC 0.398 NaN 0 0 0 0.007413 0 15 97 TDP2 51567 broad.mit.edu 37 6 24666972 24666972 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:24666972G>A uc003nej.2 - 1 144 c.119C>T c.(118-120)GCC>GTC p.A40V TDP2_uc003nei.2_5'Flank|TDP2_uc010jpu.1_Missense_Mutation_p.A40V|ACOT13_uc010jpv.2_5'Flank|ACOT13_uc003nek.2_5'Flank NM_016614 NP_057698 O95551 TYDP2_HUMAN TRAF and TNF receptor-associated protein 40 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity ovary(1)|lung(1) 2 AGCCACTGCGGCATCGCAGCT 0.632 NaN Direct_reversal_of_damage|Editing_and_processing_nucleases 0 0 0 0.001984 0 5 242 BTN3A3 10384 broad.mit.edu 37 6 26444194 26444194 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:26444194C>G uc003nhz.2 + 4 275 c.95C>G c.(94-96)TCT>TGT p.S32C BTN3A3_uc003nia.2_5'UTR|BTN3A3_uc011dkn.1_5'UTR NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 32 Extracellular (Potential).|Ig-like V-type 1. integral to membrane 0 GCTCAGTTTTCTGTGCTTGGA 0.577 NaN 0 0 0 0.00499 0 15 44 BTN3A3 10384 broad.mit.edu 37 6 26444498 26444498 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:26444498C>G uc003nhz.2 + 4 579 c.399C>G c.(397-399)TTC>TTG p.F133L BTN3A3_uc003nia.2_Missense_Mutation_p.F91L|BTN3A3_uc011dkn.1_Missense_Mutation_p.F91L NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 133 Extracellular (Potential).|Ig-like V-type 1. integral to membrane 0 ATGGTGACTTCTACGAAAAAG 0.507 NaN 0 0 0 0.007835 0 37 97 BTN1A1 696 broad.mit.edu 37 6 26508197 26508197 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:26508197C>T uc003nif.3 + 5 899 c.879C>T c.(877-879)CTC>CTT p.L293L NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 293 B30.2/SPRY.|Cytoplasmic (Potential). extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 TGGAAGAACTCAGTAAGTTCT 0.383 NaN 0 0 0 0.014323 0 17 91 NOTCH4 4855 broad.mit.edu 37 6 32164149 32164149 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:32164149G>A uc003obb.2 - 29 5389 c.5250C>T c.(5248-5250)GCC>GCT p.A1750A GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_Intron|NOTCH4_uc003oba.2_Silent_p.A410A|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_Silent_p.A159A NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1750 Cytoplasmic (Potential).|ANK 4. 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 GAAGCGAGCGGGCGGCTCGGG 0.632 NaN 0 0 0 0.01441 0 36 93 TTBK1 84630 broad.mit.edu 37 6 43251283 43251283 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:43251283G>A uc003ouq.1 + 14 3084 c.2805G>A c.(2803-2805)GAG>GAA p.E935E NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 935 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) ACATTGCGGAGAAAACCCACC 0.632 NaN 0 0 0 0.003755 0 31 73 TDRD6 221400 broad.mit.edu 37 6 46660831 46660831 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:46660831G>A uc003oyj.2 + 1 4966 c.4966G>A c.(4966-4968)GAA>AAA p.E1656K TDRD6_uc010jze.2_Missense_Mutation_p.E1650K NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1656 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CTATTTCTATGAAATAATAAC 0.363 NaN 0 0 0 0.001855 0 12 46 TDRD6 221400 broad.mit.edu 37 6 46660877 46660877 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:46660877G>A uc003oyj.2 + 1 5012 c.5012G>A c.(5011-5013)AGA>AAA p.R1671K TDRD6_uc010jze.2_Missense_Mutation_p.R1665K NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1671 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CTAGAAATCAGAAGGGATGTT 0.303 NaN 0 0 0 0.013537 0 11 38 PKHD1 5314 broad.mit.edu 37 6 51889923 51889923 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:51889923G>A uc003pah.1 - 32 4961 c.4685C>T c.(4684-4686)TCT>TTT p.S1562F PKHD1_uc003pai.2_Missense_Mutation_p.S1562F NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1562 Extracellular (Potential).|IPT/TIG 10. 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) AACATTACCAGAACAAGCATA 0.428 NaN 0 0 0 0.004007 0 17 31 ELOVL5 60481 broad.mit.edu 37 6 53138102 53138102 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:53138102G>A uc003pbq.1 - 6 985 c.537C>T c.(535-537)CTC>CTT p.L179L ELOVL5_uc003pbr.1_Silent_p.L179L|ELOVL5_uc011dwx.1_Silent_p.L206L|ELOVL5_uc003pbs.1_Intron|ELOVL5_uc003pbt.3_5'Flank NM_021814 NP_068586 Q9NYP7 ELOV5_HUMAN elongation of very long chain fatty acids-like 179 Helical; (Potential). YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated 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 0 Lung NSC(77;0.116) AAGAGTACATGAGGACGTGGA 0.473 NaN 0 0 0 0.01441 0 50 101 SNX14 57231 broad.mit.edu 37 6 86253327 86253327 + Silent SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:86253327T>C uc003pkr.2 - 13 1453 c.1260A>G c.(1258-1260)CAA>CAG p.Q420Q SNX14_uc003pkp.2_Silent_p.Q283Q|SNX14_uc003pkq.2_Silent_p.Q35Q|SNX14_uc011dzg.1_Silent_p.Q368Q|SNX14_uc003pks.2_Silent_p.Q376Q|SNX14_uc003pkt.2_Silent_p.Q420Q NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 420 RGS. 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) ACTTACTTCTTTGAATCTCTT 0.318 NaN 0 0 0 0.004672 0 3 8 C6orf203 51250 broad.mit.edu 37 6 107365503 107365503 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:107365503G>A uc003prq.2 + 3 591 c.510G>A c.(508-510)CTG>CTA p.L170L C6orf203_uc011eaj.1_Silent_p.L175L|C6orf203_uc010kde.2_Silent_p.L170L NM_016487 NP_057571 Q9P0P8 CF203_HUMAN hypothetical protein LOC51250 isoform a 170 0 Breast(9;0.00124)|all_epithelial(6;0.0729) all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23) BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244) BRCA - Breast invasive adenocarcinoma(108;0.117) AACTCAGGCTGAATGAGGAAA 0.289 NaN 0 0 0 0.012213 0 28 53 PDSS2 57107 broad.mit.edu 37 6 107780313 107780313 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:107780313G>A uc003prt.2 - 1 467 c.177C>T c.(175-177)ATC>ATT p.I59I PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Silent_p.I59I|PDSS2_uc003pru.2_Silent_p.I59I|PDSS2_uc003prv.2_Silent_p.I59I NM_020381 NP_065114 Q86YH6 DLP1_HUMAN prenyl diphosphate synthase, subunit 2 59 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity ovary(2) 2 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) GGTACCCCACGATCTTCTCCG 0.637 NaN OREG0017595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 6 38 MICAL1 64780 broad.mit.edu 37 6 109768352 109768352 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:109768352G>C uc003ptj.2 - 16 2405 c.2151C>G c.(2149-2151)TTC>TTG p.F717L MICAL1_uc003ptk.2_Missense_Mutation_p.F717L|MICAL1_uc010kdr.2_Missense_Mutation_p.F631L|MICAL1_uc011eaq.1_Missense_Mutation_p.F736L NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 717 LIM zinc-binding. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) AGCTCCGGTGGAAGAAATGGC 0.627 NaN 0 0 0 0.015359 0 30 66 MED23 9439 broad.mit.edu 37 6 131908944 131908944 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:131908944G>A uc003qcs.1 - 29 4156 c.3982C>T c.(3982-3984)CGT>TGT p.R1328C MED23_uc003qcq.2_Missense_Mutation_p.R1334C|MED23_uc003qcr.1_Missense_Mutation_p.R183C NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 1328 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) AATCGAAGACGAAGTTTTAAA 0.403 NaN 0 0 0 0.004672 0 3 20 PPIL4 85313 broad.mit.edu 37 6 149854672 149854672 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:149854672G>C uc003qmo.1 - 7 630 c.600C>G c.(598-600)TTC>TTG p.F200L PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Missense_Mutation_p.F200L NM_139126 NP_624311 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase-like 4 200 protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) ATCTTCCTTTGAAATCATCAA 0.323 NaN 0 0 0 0.001855 0 11 22 ZDHHC14 79683 broad.mit.edu 37 6 157803263 157803263 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:157803263C>T uc003qqt.2 + 1 707 c.210C>T c.(208-210)CTC>CTT p.L70L ZDHHC14_uc003qqs.2_Silent_p.L70L NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 isoform 1 70 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding ovary(1)|skin(1) 2 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CGCTCGTCCTCATCCTGGTCA 0.627 NaN 0 0 0 0.001855 0 12 59 ZDHHC14 79683 broad.mit.edu 37 6 157963684 157963684 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:157963684G>T uc003qqt.2 + 2 810 c.313G>T c.(313-315)GTG>TTG p.V105L ZDHHC14_uc003qqs.2_Missense_Mutation_p.V105L|ZDHHC14_uc010kjm.1_5'UTR NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 isoform 1 105 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding ovary(1)|skin(1) 2 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GTTCTTCTTTGTGATGGGGAC 0.607 NaN 1 0 7.53681e-25 0.00632 8.12234e-25 25 50 TULP4 56995 broad.mit.edu 37 6 158924831 158924831 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:158924831G>A uc003qrf.2 + 13 5493 c.4136G>A c.(4135-4137)AGA>AAA p.R1379K TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 1379 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CACCTGGGGAGAGAGAAGAAG 0.493 NaN 0 0 0 0.004007 0 15 15 UNC93A 54346 broad.mit.edu 37 6 167709658 167709658 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:167709658G>A uc003qvq.2 + 3 583 c.408G>A c.(406-408)CAG>CAA p.Q136Q UNC93A_uc003qvr.2_Silent_p.Q136Q NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 136 integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGGTGAACCAGTATTTTGGCA 0.537 NaN 0 0 0 0.015359 0 28 116 DLL1 28514 broad.mit.edu 37 6 170592977 170592977 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:170592977C>T uc003qxm.2 - 9 1860 c.1390G>A c.(1390-1392)GAC>AAC p.D464N NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 464 Extracellular (Potential).|EGF-like 7; calcium-binding (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) CAGGAGAAGTCGTTCACGCCA 0.697 NaN 0 0 0 0.00308 0 6 11 RNF216 54476 broad.mit.edu 37 7 5752476 5752476 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:5752476C>G uc003soy.1 - 12 1871 c.1681G>C c.(1681-1683)GAA>CAA p.E561Q RNF216_uc010ksz.1_Missense_Mutation_p.E183Q|RNF216_uc010kta.1_Missense_Mutation_p.E183Q|RNF216_uc011jwj.1_Missense_Mutation_p.E183Q|RNF216_uc003sox.1_Missense_Mutation_p.E618Q NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 561 RING-type 1. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CAGCTGCCTTCCATGCAGCTG 0.443 NaN 0 0 0 0.007413 0 17 15 DAGLB 221955 broad.mit.edu 37 7 6472552 6472552 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:6472552G>A uc003sqa.2 - 5 887 c.717C>T c.(715-717)CTC>CTT p.L239L DAGLB_uc011jwt.1_Silent_p.L53L|DAGLB_uc011jwu.1_Missense_Mutation_p.S153L|DAGLB_uc003sqb.2_5'UTR|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.L198L|DAGLB_uc011jww.1_RNA NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 239 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) GAAGCAGGGCGAGGCCCGCCG 0.607 NaN 0 0 0 0.003755 0 33 38 HOXA3 3200 broad.mit.edu 37 7 27147998 27147998 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:27147998C>T uc011jzl.1 - 3 1068 c.868G>A c.(868-870)GAG>AAG p.E290K HOXA3_uc011jzk.1_Missense_Mutation_p.E132K|HOXA3_uc003syk.2_Missense_Mutation_p.E290K NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 290 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 GACTGGGGCTCATACGGGACG 0.701 NaN 0 0 0 0.004482 0 7 57 ADCYAP1R1 117 broad.mit.edu 37 7 31121345 31121345 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:31121345G>A uc003tca.1 + 6 527 c.304G>A c.(304-306)GAC>AAC p.D102N ADCYAP1R1_uc003tcb.1_Intron|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.D102N|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.D102N|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.D102N NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 102 Extracellular (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 TGATTTTGGTGACAGTAACTC 0.493 NaN 0 0 0 0.006999 0 33 138 FKBP9 11328 broad.mit.edu 37 7 33044890 33044890 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:33044890G>A uc003tdh.2 + 10 1821 c.1640G>A c.(1639-1641)CGG>CAG p.R547Q AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.R600Q|FKBP9_uc011kam.1_Missense_Mutation_p.R315Q NM_007270 NP_009201 O95302 FKBP9_HUMAN FK506 binding protein 9 precursor 547 EF-hand 2.|2 (Potential). protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|ovary(1) 14 GBM - Glioblastoma multiforme(11;0.0156) AACCAGGACCGGAATGGAGAT 0.502 NaN 0 0 0 0.010504 0 15 78 GLI3 2737 broad.mit.edu 37 7 42007389 42007389 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:42007389C>T uc011kbh.1 - 14 2327 c.2236G>A c.(2236-2238)GAA>AAA p.E746K GLI3_uc011kbg.1_Missense_Mutation_p.E687K NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 746 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 ATTGGGGTTTCATCGATGGCA 0.532 NaN Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 0 0 0 0.005443 0 25 114 C7orf44 55744 broad.mit.edu 37 7 43679188 43679188 + Missense_Mutation SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:43679188T>C uc003tin.1 - 6 528 c.434A>G c.(433-435)AAG>AGG p.K145R C7orf44_uc003til.2_RNA|C7orf44_uc003tii.2_RNA|C7orf44_uc003tij.2_RNA|C7orf44_uc010kxu.1_RNA|C7orf44_uc003tik.2_RNA|C7orf44_uc003tim.1_RNA|C7orf44_uc003tio.1_Missense_Mutation_p.K145R|C7orf44_uc003tiq.1_Missense_Mutation_p.K145R|C7orf44_uc003tip.1_Missense_Mutation_p.K145R NM_018224 NP_060694 Q9GZY4 CG044_HUMAN hypothetical protein LOC55744 145 integral to membrane ovary(1) 1 TCTCTACTCCTTTTTCACTTC 0.517 NaN 0 0 0 0.004672 0 3 135 PURB 5814 broad.mit.edu 37 7 44924792 44924792 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:44924792C>G uc003tme.2 - 1 169 c.156G>C c.(154-156)CAG>CAC p.Q52H NM_033224 NP_150093 Q96QR8 PURB_HUMAN purine-rich element binding protein B 52 By similarity. regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding 0 CCTTGGCGTTCTGCTTCACAT 0.672 NaN 0 0 0 0.014758 0 5 26 ABCA13 154664 broad.mit.edu 37 7 48391850 48391850 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:48391850C>T uc003toq.2 + 31 10479 c.10454C>T c.(10453-10455)TCA>TTA p.S3485L ABCA13_uc010kys.1_Missense_Mutation_p.S559L|ABCA13_uc003tos.1_Missense_Mutation_p.S311L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3485 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CCCCATGTCTCATACACAATC 0.443 NaN 0 0 0 0.00874 0 35 144 KIAA1324L 222223 broad.mit.edu 37 7 86569360 86569360 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:86569360G>C uc011kha.1 - 6 998 c.813C>G c.(811-813)GTC>GTG p.V271V KIAA1324L_uc003uif.1_Silent_p.V31V|KIAA1324L_uc011kgz.1_Silent_p.V157V|KIAA1324L_uc003uie.2_Silent_p.V104V NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 271 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) GCACAGGCTTGACCGCCTTAG 0.368 NaN 0 0 0 0.012319 0 18 77 ADAM22 53616 broad.mit.edu 37 7 87563851 87563851 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:87563851G>A uc003ujn.2 + 1 150 c.71G>A c.(70-72)CGC>CAC p.R24H ADAM22_uc003uji.1_Missense_Mutation_p.R24H|ADAM22_uc003ujj.1_Missense_Mutation_p.R24H|ADAM22_uc003ujk.1_Missense_Mutation_p.R24H|ADAM22_uc003ujl.1_Missense_Mutation_p.R24H|ADAM22_uc003ujm.2_Missense_Mutation_p.R24H|ADAM22_uc003ujo.2_Missense_Mutation_p.R24H|ADAM22_uc003ujp.1_5'Flank NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 24 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CCTCCGGCGCGCTGCGGCCAG 0.647 NaN 0 0 0 0.009096 0 3 16 ANKIB1 54467 broad.mit.edu 37 7 92027682 92027682 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:92027682G>C uc003ulw.2 + 20 3065 c.2689G>C c.(2689-2691)GAC>CAC p.D897H ANKIB1_uc010lew.1_Missense_Mutation_p.D166H NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 897 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTCCAGGCTGGACTCTGTCCC 0.507 NaN 0 0 0 0.004672 0 3 12 COL1A2 1278 broad.mit.edu 37 7 94057029 94057029 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:94057029G>C uc003ung.1 + 49 3829 c.3358G>C c.(3358-3360)GAC>CAC p.D1120H COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1120 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTACAGGGCTGACCAGCCTCG 0.547 NaN HNSCC(75;0.22) 0 0 0 0.014323 0 23 69 COL1A2 1278 broad.mit.edu 37 7 94058695 94058695 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:94058695G>A uc003ung.1 + 51 4378 c.3907G>A c.(3907-3909)GAG>AAG p.E1303K COL1A2_uc011kib.1_Missense_Mutation_p.E155K NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1303 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ACTTGTTGCTGAGGGCAACAG 0.458 NaN HNSCC(75;0.22) 0 0 0 0.00499 0 14 50 NPTX2 4885 broad.mit.edu 37 7 98256482 98256482 + Silent SNP G G T rs145736632 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:98256482G>T uc003upl.2 + 4 1071 c.894G>T c.(892-894)GCG>GCT p.A298A NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 298 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CACAGGTTGCGCAGCTGCCCC 0.632 NaN 1 0 7.87624e-14 0.016522 8.40443e-14 22 32 CYP3A4 1576 broad.mit.edu 37 7 99364768 99364768 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:99364768C>T uc003urv.1 - 8 888 c.784G>A c.(784-786)GAA>AAA p.E262K CYP3A4_uc003urw.1_Missense_Mutation_p.E261K|CYP3A4_uc011kiz.1_Missense_Mutation_p.E221K|CYP3A4_uc011kja.1_Missense_Mutation_p.E213K|CYP3A4_uc011kjb.1_Missense_Mutation_p.E112K NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 262 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TGTGTATCTTCGAGGCGACTT 0.308 NaN 0 0 0 0.008871 0 16 35 MBLAC1 255374 broad.mit.edu 37 7 99725743 99725743 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:99725743C>T uc003utp.2 + 2 1124 c.725C>T c.(724-726)TCG>TTG p.S242L NM_203397 NP_981942 A4D2B0 MBLC1_HUMAN metallo-beta-lactamase domain containing 1 242 hydrolase activity|metal ion binding breast(1) 1 AGGGAAGCCTCGCAGCCCGAG 0.677 NaN 0 0 0 0.009096 0 3 10 PIK3CG 5294 broad.mit.edu 37 7 106545575 106545575 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:106545575C>G uc003vdv.3 + 11 3137 c.3052C>G c.(3052-3054)CTA>GTA p.L1018V PIK3CG_uc003vdu.2_Missense_Mutation_p.L1018V|PIK3CG_uc003vdw.2_Missense_Mutation_p.L1018V NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 1018 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TAAGGCTTATCTAGCCCTTCG 0.398 NaN 0 0 0 0.01441 0 41 136 GIMAP8 155038 broad.mit.edu 37 7 150174615 150174615 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:150174615C>T uc003whj.2 + 5 2075 c.1745C>T c.(1744-1746)TCA>TTA p.S582L NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 582 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ATGAAGAACTCAGATAACAAA 0.483 NaN 0 0 0 0.009535 0 27 85 NUB1 51667 broad.mit.edu 37 7 151073831 151073831 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:151073831C>A uc003wjx.2 + 14 1680 c.1675C>A c.(1675-1677)CCC>ACC p.P559T NUB1_uc003wjw.2_Missense_Mutation_p.P521T|NUB1_uc010lqc.2_RNA NM_016118 NP_057202 Q9Y5A7 NUB1_HUMAN NEDD8 ultimate buster-1 535 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding 0 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) AAGCCTGCCTCCCGAGCTGCC 0.627 NaN 1 0 0.00909568 0.009096 0.00930201 4 7 ARHGEF10 9639 broad.mit.edu 37 8 1893769 1893769 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:1893769C>G uc003wpr.2 + 27 3523 c.3345C>G c.(3343-3345)CTC>CTG p.L1115L ARHGEF10_uc003wps.2_Silent_p.L1077L|ARHGEF10_uc010lre.2_Silent_p.L766L NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 1140 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CGGAAACTCTCAAGCACCTGC 0.617 NaN 0 0 0 0.008871 0 18 38 MFHAS1 9258 broad.mit.edu 37 8 8750149 8750149 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:8750149G>A uc003wsj.1 - 1 983 c.420C>T c.(418-420)CTC>CTT p.L140L NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 140 LRR 4. 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GGCTGAGGTTGAGCTTCCGCA 0.692 NaN 0 0 0 0.014758 0 4 4 TNKS 8658 broad.mit.edu 37 8 9413865 9413865 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:9413865C>T uc003wss.2 + 1 421 c.416C>T c.(415-417)TCA>TTA p.S139L TNKS_uc011kwv.1_Missense_Mutation_p.S139L|uc003wsr.1_RNA NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 139 Poly-Ser. 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) ACTTCTTCCTCATCTTCCTCT 0.632 NaN 0 0 0 0.01441 0 50 86 WRN 7486 broad.mit.edu 37 8 31015039 31015039 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:31015039C>T uc003xio.3 + 33 4763 c.3975C>T c.(3973-3975)GTC>GTT p.V1325V WRN_uc010lvk.2_Silent_p.V792V NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1325 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) ACCCTCCCGTCAACTCAGGTG 0.478 NaN Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 0 0 0 0.013537 0 11 13 RAB11FIP1 80223 broad.mit.edu 37 8 37732208 37732208 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:37732208G>A uc003xkm.1 - 3 1491 c.1447C>T c.(1447-1449)CTT>TTT p.L483F RAB11FIP1_uc010lvz.1_Missense_Mutation_p.L331F|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.L483F|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.L331F NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 483 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTTCTCACAAGGTCTTCAGCA 0.552 NaN 0 0 0 0.001168 0 6 158 SGK196 84197 broad.mit.edu 37 8 42978000 42978000 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:42978000C>A uc003xpw.2 + 5 1292 c.1033C>A c.(1033-1035)CAG>AAG p.Q345K NM_032237 NP_115613 Q9H5K3 SG196_HUMAN protein kinase-like protein SgK196 345 Protein kinase. integral to membrane ATP binding|protein kinase activity 0 CATGATGTCTCAGGCAAGAGA 0.493 NaN 1 0 2.0833e-19 0.01441 2.2274e-19 46 53 MCM4 4173 broad.mit.edu 37 8 48874078 48874078 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:48874078C>T uc003xqk.1 + 3 168 c.73C>T c.(73-75)CGG>TGG p.R25W PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.R25W|MCM4_uc011ldi.1_Missense_Mutation_p.R25W|MCM4_uc010lxw.1_RNA NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 25 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) GACACAAGCTCGGAGTGAGGA 0.547 NaN 0 0 0 0.003163 0 12 53 RP1 6101 broad.mit.edu 37 8 55538439 55538439 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:55538439C>T uc003xsd.1 + 4 2145 c.1997C>T c.(1996-1998)TCA>TTA p.S666L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 666 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) AAGATTTTGTCATCTGTTGCC 0.348 NaN 0 0 0 0.008291 0 10 23 LYN 4067 broad.mit.edu 37 8 56866484 56866484 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:56866484G>A uc003xsk.3 + 8 1013 c.731G>A c.(730-732)CGG>CAG p.R244Q LYN_uc003xsl.3_Missense_Mutation_p.R223Q NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 244 erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) GAGATCCCCCGGGAGTCCATC 0.527 NaN 0 0 0 0.014323 0 18 72 NECAB1 64168 broad.mit.edu 37 8 91962060 91962060 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:91962060G>C uc011lgg.1 + 11 1080 c.886G>C c.(886-888)GAA>CAA p.E296Q NECAB1_uc003yer.2_Missense_Mutation_p.E45Q NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 296 ABM. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) GCTTTCAAATGAATCTCGCTA 0.353 NaN 0 0 0 0.009096 0 4 13 INTS8 55656 broad.mit.edu 37 8 95850811 95850811 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:95850811C>G uc003yhb.2 + 8 1108 c.982C>G c.(982-984)CAA>GAA p.Q328E INTS8_uc003yha.1_Missense_Mutation_p.Q328E|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.Q155E NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 328 TPR 2. snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) TCCATATAGTCAAGTCCATAT 0.289 NaN 0 0 0 0.005524 0 34 90 INTS8 55656 broad.mit.edu 37 8 95885644 95885644 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:95885644C>T uc003yhb.2 + 22 2702 c.2576C>T c.(2575-2577)GCA>GTA p.A859V INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.A686V NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 859 TPR 4. snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) TACCTCCAGGCAGGAGCTGTG 0.448 NaN 0 0 0 0.01441 0 97 251 RNF19A 25897 broad.mit.edu 37 8 101270981 101270981 + Nonsense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:101270981G>A uc003yjj.1 - 11 2637 c.2320C>T c.(2320-2322)CAG>TAG p.Q774* RNF19A_uc003yjk.1_Nonsense_Mutation_p.Q774* NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 774 Interaction with CASR. microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) ATGCTACACTGATGTGGGGAA 0.398 NaN 0 0 0 0.007291 0 28 64 RNF19A 25897 broad.mit.edu 37 8 101271310 101271310 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:101271310G>A uc003yjj.1 - 11 2308 c.1991C>T c.(1990-1992)TCC>TTC p.S664F RNF19A_uc003yjk.1_Missense_Mutation_p.S664F NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 664 Interaction with CASR. microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) TGCTTCTTTGGACCACTTGGT 0.473 NaN OREG0018897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00623 0 38 101 PKHD1L1 93035 broad.mit.edu 37 8 110534432 110534432 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:110534432G>C uc003yne.2 + 74 12153 c.12049G>C c.(12049-12051)GAA>CAA p.E4017Q NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 4017 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCAGTTATCTGAACTCCAGGA 0.348 NaN HNSCC(38;0.096) 0 0 0 0.00308 0 8 15 MTSS1 9788 broad.mit.edu 37 8 125579322 125579322 + Nonsense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:125579322G>C uc003yrk.2 - 8 1250 c.716C>G c.(715-717)TCA>TGA p.S239* NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_5'Flank|MTSS1_uc011lio.1_Nonsense_Mutation_p.S129*|MTSS1_uc003yri.2_Nonsense_Mutation_p.S39*|MTSS1_uc003yrj.2_Nonsense_Mutation_p.S239*|MTSS1_uc003yrl.2_Nonsense_Mutation_p.S243* NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 239 IMD.|Ser-rich. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTGTTCACTTGAGGAGGGCAG 0.483 NaN 0 0 0 0.004672 0 3 56 KIAA0196 9897 broad.mit.edu 37 8 126090994 126090994 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:126090994C>G uc003yrt.2 - 6 1026 c.697G>C c.(697-699)GAT>CAT p.D233H KIAA0196_uc011lir.1_Missense_Mutation_p.D85H NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 233 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTGTAAATATCATCAGATCTC 0.398 NaN 0 0 0 0.016522 0 22 63 ZFAT 57623 broad.mit.edu 37 8 135524803 135524803 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:135524803G>C uc003yup.2 - 14 3451 c.3276C>G c.(3274-3276)CTC>CTG p.L1092L ZFAT_uc011ljj.1_Silent_p.L211L|ZFAT_uc003yun.2_Silent_p.L1080L|ZFAT_uc003yuo.2_Silent_p.L1080L|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.L1080L|ZFAT_uc010mej.2_Silent_p.L1030L NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 1092 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTGTGATGTGGAGATACTGGG 0.522 NaN 0 0 0 0.005524 0 35 103 FAM135B 51059 broad.mit.edu 37 8 139164734 139164734 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:139164734G>A uc003yuy.2 - 13 2155 c.1984C>T c.(1984-1986)CAC>TAC p.H662Y FAM135B_uc003yux.2_Missense_Mutation_p.H563Y|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.H224Y|FAM135B_uc003yvb.2_Missense_Mutation_p.H224Y NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 662 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCTTCTGTGTGAGAGTCCTTT 0.502 NaN HNSCC(54;0.14) 0 0 0 0.00632 0 24 63 FAM135B 51059 broad.mit.edu 37 8 139263175 139263175 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:139263175G>T uc003yuy.2 - 6 622 c.451C>A c.(451-453)CAG>AAG p.Q151K FAM135B_uc003yux.2_Missense_Mutation_p.Q52K|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 151 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACCGGGACCTGGTGGTGCAGA 0.587 NaN HNSCC(54;0.14) 1 0 2.53126e-37 0.01441 2.74982e-37 52 189 BAI1 575 broad.mit.edu 37 8 143570748 143570748 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:143570748G>A uc003ywm.2 + 15 2763 c.2580G>A c.(2578-2580)CCG>CCA p.P860P NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 860 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGAAACCCCCGCCTCGCTCCC 0.602 NaN 0 0 0 0.004878 0 32 144 ADAMTSL1 92949 broad.mit.edu 37 9 18777151 18777151 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:18777151G>A uc003zne.3 + 19 3051 c.2924G>A c.(2923-2925)AGA>AAA p.R975K NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 975 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) TTGAGCCCGAGAAGTGAGGAA 0.652 NaN 0 0 0 0.001168 0 5 40 ELAVL2 1993 broad.mit.edu 37 9 23701419 23701419 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:23701419C>T uc003zpu.2 - 5 946 c.671G>A c.(670-672)AGA>AAA p.R224K ELAVL2_uc003zps.2_Missense_Mutation_p.R224K|ELAVL2_uc003zpt.2_Missense_Mutation_p.R224K|ELAVL2_uc003zpv.2_Missense_Mutation_p.R224K|ELAVL2_uc003zpw.2_Missense_Mutation_p.R224K NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 224 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TGGATACCTTCTGTTTGGAGA 0.488 NaN 0 0 0 0.004656 0 23 153 NDUFB6 4712 broad.mit.edu 37 9 32553939 32553939 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:32553939C>T uc003zre.1 - 4 446 c.322G>A c.(322-324)GAT>AAT p.D108N TOPORS_uc003zrb.2_5'Flank|TOPORS_uc003zrc.2_5'Flank|NDUFB6_uc003zrf.1_Missense_Mutation_p.D93N NM_002493 NP_002484 O95139 NDUB6_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 108 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00199) NADH(DB00157) AGAATTGTATCACCCTAGGAA 0.239 NaN 0 0 0 0.01441 0 48 64 KIAA1045 23349 broad.mit.edu 37 9 34971383 34971383 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:34971383G>C uc003zvq.2 + 2 266 c.88G>C c.(88-90)GAC>CAC p.D30H KIAA1045_uc003zvr.2_Missense_Mutation_p.D30H NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 30 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) TGGGCTGCGGGACAGGCCTTC 0.617 NaN 0 0 0 0.010729 0 8 87 KIAA1045 23349 broad.mit.edu 37 9 34971486 34971486 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:34971486G>A uc003zvq.2 + 2 369 c.191G>A c.(190-192)GGA>GAA p.G64E KIAA1045_uc003zvr.2_Missense_Mutation_p.G64E NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 64 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) GCAGAAGCAGGAACCTCGGTG 0.652 NaN 0 0 0 0.008291 0 10 70 KIAA1045 23349 broad.mit.edu 37 9 34972478 34972478 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:34972478G>A uc003zvq.2 + 3 692 c.514G>A c.(514-516)GAG>AAG p.E172K KIAA1045_uc003zvr.2_Missense_Mutation_p.E172K NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 172 PHD-type. calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) CAGTGCAGCGGAGGTGACGGA 0.597 NaN 0 0 0 0.007413 0 14 96 RUSC2 9853 broad.mit.edu 37 9 35546546 35546546 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:35546546G>C uc003zww.2 + 2 283 c.28G>C c.(28-30)GAG>CAG p.E10Q RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E10Q NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 10 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GCTGACTGGAGAGACCCTCAT 0.562 NaN 0 0 0 0.01441 0 68 87 RECK 8434 broad.mit.edu 37 9 36118870 36118870 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:36118870C>T uc003zyv.2 + 18 2456 c.2370C>T c.(2368-2370)GTC>GTT p.V790V RECK_uc003zyw.2_Silent_p.V662V|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 790 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GCCAGGCCGTCGGAGTCCTCT 0.602 NaN 0 0 0 0.001855 0 13 72 FRMPD1 22844 broad.mit.edu 37 9 37746482 37746482 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:37746482G>C uc004aag.1 + 16 4497 c.4453G>C c.(4453-4455)GAG>CAG p.E1485Q FRMPD1_uc004aah.1_Missense_Mutation_p.E1485Q NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1485 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) GTCCCCCGAAGAGATGCAGGG 0.637 NaN 0 0 0 0.012319 0 18 24 TMC1 117531 broad.mit.edu 37 9 75366836 75366836 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:75366836C>T uc004aiz.1 + 11 1146 c.606C>T c.(604-606)CTC>CTT p.L202L TMC1_uc010moz.1_Silent_p.L160L|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.L56L|TMC1_uc010mpa.1_Silent_p.L56L NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 202 Helical; (Potential). sensory perception of sound integral to membrane ovary(1) 1 ATATGGTTCTCTTTATCCTGA 0.373 NaN 0 0 0 0.01441 0 59 82 TRPM6 140803 broad.mit.edu 37 9 77397292 77397292 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:77397292C>G uc004ajl.1 - 23 3433 c.3195G>C c.(3193-3195)TTG>TTC p.L1065F TRPM6_uc004ajk.1_Missense_Mutation_p.L1060F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_3'UTR NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1065 Helical; (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 AGAAAGCAATCAACAGGTTCA 0.363 NaN 0 0 0 0.008361 0 26 42 PRUNE2 158471 broad.mit.edu 37 9 79320827 79320827 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:79320827G>A uc010mpk.2 - 8 6487 c.6363C>T c.(6361-6363)CTC>CTT p.L2121L PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2121 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TGCAAGCACTGAGGTGCTTCT 0.493 NaN 0 0 0 0.01441 0 55 80 HNRNPK 3190 broad.mit.edu 37 9 86587005 86587005 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:86587005G>A uc004ang.3 - 11 969 c.745C>T c.(745-747)CGC>TGC p.R249C HNRNPK_uc011lsw.1_Missense_Mutation_p.R9C|HNRNPK_uc004and.3_Missense_Mutation_p.R9C|HNRNPK_uc004ank.3_Missense_Mutation_p.R249C|HNRNPK_uc004anf.3_Missense_Mutation_p.R249C|HNRNPK_uc004anh.3_Missense_Mutation_p.R225C|HNRNPK_uc011lsx.1_Missense_Mutation_p.R225C|HNRNPK_uc004ani.3_Missense_Mutation_p.R249C|HNRNPK_uc004anj.3_Missense_Mutation_p.R249C|HNRNPK_uc004ann.3_Missense_Mutation_p.R225C|HNRNPK_uc004anl.3_Missense_Mutation_p.R249C|HNRNPK_uc004anm.3_Missense_Mutation_p.R249C|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 249 5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.|RNA-binding RGG-box.|2 X 6 AA approximate repeats.|2-1.|Necessary for interaction with DDX1.|Interaction with ZIK1 (By similarity). interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding skin(1) 1 CCCACTGGGCGTCCGCGACGG 0.498 NaN 0 0 0 0.004878 0 35 43 CTSL1 1514 broad.mit.edu 37 9 90342571 90342571 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:90342571C>G uc004aph.2 + 2 403 c.53C>G c.(52-54)ACT>AGT p.T18S CTSL1_uc004api.2_Missense_Mutation_p.T18S|CTSL1_uc004apj.2_Intron|CTSL1_uc010mqh.2_5'UTR|CTSL1_uc004apk.2_Missense_Mutation_p.T18S|CTSL1_uc004apl.2_Missense_Mutation_p.T18S NM_001912 NP_001903 P07711 CATL1_HUMAN cathepsin L1 preproprotein 18 macrophage apoptosis|proteolysis extracellular region|lysosome|nucleus cysteine-type endopeptidase activity|histone binding ovary(3) 3 Glucagon recombinant(DB00040) GCCTCAGCTACTCTAACATTT 0.428 NaN 0 0 0 0.009096 0 3 124 SHC3 53358 broad.mit.edu 37 9 91667005 91667005 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:91667005G>C uc004aqg.2 - 7 1216 c.909C>G c.(907-909)CTC>CTG p.L303L NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming 303 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 GCTTAAACCGGAGCTCAAAGG 0.488 NaN 0 0 0 0.001984 0 7 73 PTCH1 5727 broad.mit.edu 37 9 98229398 98229398 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:98229398C>T uc004avk.3 - 15 2748 c.2560G>A c.(2560-2562)GGA>AGA p.G854R PTCH1_uc010mro.2_Missense_Mutation_p.G703R|PTCH1_uc010mrp.2_Missense_Mutation_p.G703R|PTCH1_uc010mrq.2_Missense_Mutation_p.G703R|PTCH1_uc004avl.3_Missense_Mutation_p.G703R|PTCH1_uc010mrr.2_Missense_Mutation_p.G788R|PTCH1_uc004avm.3_Missense_Mutation_p.G853R NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 854 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.G854*(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GCCGTCTTACCCTGAAGCCAG 0.458 NaN Basal_Cell_Nevus_syndrome 0 0 0 0.014758 0 5 33 ABCA1 19 broad.mit.edu 37 9 107554264 107554264 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:107554264G>A uc004bcl.2 - 43 6086 c.5773C>T c.(5773-5775)CGG>TGG p.R1925W NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1925 ABC transporter 2. R -> Q (in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane). Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCAGGCTTCCGCTTCCTTCTA 0.438 NaN 0 0 0 0.006214 0 6 33 PSMD5 5711 broad.mit.edu 37 9 123593680 123593680 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:123593680C>T uc004bko.2 - 4 509 c.490G>A c.(490-492)GAA>AAA p.E164K PSMD5_uc011lye.1_Intron NM_005047 NP_005038 Q16401 PSMD5_HUMAN proteasome 26S non-ATPase subunit 5 164 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding 0 AGATTGCTTTCAAATAAAGCC 0.368 NaN 0 0 0 0.004007 0 15 77 TOR2A 27433 broad.mit.edu 37 9 130496590 130496590 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:130496590G>A uc004brs.3 - 2 460 c.405C>T c.(403-405)ATC>ATT p.I135I TOR2A_uc004brt.3_Silent_p.I135I|TOR2A_uc004brw.3_Silent_p.I135I|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR NM_001085347 NP_001078816 Q5JU69 TOR2A_HUMAN torsin family 2, member A isoform a 135 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity 0 TGTAGCGCTCGATGTGGCTGG 0.642 NaN OREG0019509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010504 0 16 36 BAT2L1 84726 broad.mit.edu 37 9 134350698 134350698 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:134350698G>A uc004can.3 + 15 3237 c.3182G>A c.(3181-3183)AGA>AAA p.R1061K BAT2L1_uc010mzj.1_Missense_Mutation_p.R644K|BAT2L1_uc004cao.3_Missense_Mutation_p.R419K NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 1061 protein binding 0 TTTGGGGTCAGAGGACAGGCC 0.607 NaN 0 0 0 0.014758 0 5 22 LHX3 8022 broad.mit.edu 37 9 139090906 139090906 + Splice_Site SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:139090906C>T uc004cha.2 - 4 552 c.455_splice c.e4-1 p.E152_splice LHX3_uc004cgz.2_Splice_Site_p.E157_splice NM_178138 NP_835258 Q9UBR4 LHX3_HUMAN LIM homeobox protein 3 isoform a inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GCCTCGGCCTCTGCGCGGCGG 0.776 NaN 0 0 0 0.006214 0 8 7 MAN1B1 11253 broad.mit.edu 37 9 140002847 140002847 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:140002847C>G uc004cld.2 + 13 1939 c.1904C>G c.(1903-1905)TCG>TGG p.S635W MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Missense_Mutation_p.S308W|MAN1B1_uc004clg.1_RNA NM_016219 NP_057303 Q9UKM7 MA1B1_HUMAN alpha 1,2-mannosidase 635 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(1)|central_nervous_system(1) 2 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CAGGTCCCCTCGGGTGGCTAT 0.612 NaN 0 0 0 0.008291 0 7 39 MAN1B1 11253 broad.mit.edu 37 9 140002885 140002885 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:140002885C>G uc004cld.2 + 13 1977 c.1942C>G c.(1942-1944)CAG>GAG p.Q648E MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Missense_Mutation_p.Q321E|MAN1B1_uc004clg.1_RNA NM_016219 NP_057303 Q9UKM7 MA1B1_HUMAN alpha 1,2-mannosidase 648 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(1)|central_nervous_system(1) 2 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CCAGGATCCTCAGAAGCCCGA 0.597 NaN 0 0 0 0.010729 0 10 85 RBM10 8241 broad.mit.edu 37 X 47045024 47045024 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chrX:47045024C>G uc004dhf.2 + 20 2729 c.2350C>G c.(2350-2352)CAC>GAC p.H784D RBM10_uc004dhg.2_Missense_Mutation_p.H706D|RBM10_uc004dhh.2_Missense_Mutation_p.H783D|RBM10_uc010nhq.2_Missense_Mutation_p.H707D|RBM10_uc004dhi.2_Missense_Mutation_p.H849D NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 784 C2H2-type; atypical. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 CTCAGGGCTCCACAAGGTAAC 0.612 NaN 0 0 0 0.014758 0 4 3 FAM120C 54954 broad.mit.edu 37 X 54162953 54162953 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chrX:54162953G>C uc004dsz.3 - 5 1312 c.1229C>G c.(1228-1230)TCT>TGT p.S410C FAM120C_uc011moh.1_Missense_Mutation_p.S410C NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 410 ovary(1)|central_nervous_system(1) 2 TGGCAGCGAAGAGAGTTTGGT 0.463 NaN 0 0 0 0.00499 0 15 45 ARMCX5 64860 broad.mit.edu 37 X 101857613 101857613 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chrX:101857613G>A uc004ejg.2 + 6 1425 c.544G>A c.(544-546)GTA>ATA p.V182I ARMCX5_uc004ejh.2_Missense_Mutation_p.V182I NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 182 binding ovary(1) 1 AGAGCCTAGTGTAGGGTCCTG 0.488 NaN 0 0 0 0.001855 0 12 45 ESX1 80712 broad.mit.edu 37 X 103499060 103499060 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chrX:103499060G>A uc004ely.2 - 2 339 c.281C>T c.(280-282)CCG>CTG p.P94L NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 94 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 CTGTTGCTCCGGCTTGGTCAG 0.716 NaN 0 0 0 0.010818 0 27 33 UROD 7389 broad.mit.edu 37 1 45479331 45479332 + Frame_Shift_Del DEL AG AG - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:45479331_45479332delAG uc001cna.1 + 5 450_451 c.342_343delAG c.(340-345)GAAGAGfs p.E114fs HECTD3_uc009vxk.2_5'Flank|HECTD3_uc010olh.1_5'Flank|UROD_uc010oli.1_3'UTR|UROD_uc001cnb.1_Frame_Shift_Del_p.E79fs|UROD_uc010olj.1_Frame_Shift_Del_p.E58fs|UROD_uc001cnc.1_Frame_Shift_Del_p.E19fs NM_000374 NP_000365 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 114_115 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity 0 Acute lymphoblastic leukemia(166;0.155) CATTAAGAGAAGAGCAGGACCT 0.559 NaN Porphyria_Cutanea_Tarda_Type_II NaN NaN NaN NaN NaN 13 56 --- --- C10orf140 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCT rs138084841 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:21805466_21805467insCCT uc009xkd.2 - 4 3538_3539 c.1285_1286insAGG c.(1285-1287)GGG>GAGGGG p.428_429insE uc001iqp.1_RNA NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 347_348 Ser-rich.|Glu-rich. nucleus nucleotide binding ovary(1) 1 CCCGCTGCccccctcctcctcc 0.441 NaN NaN NaN NaN NaN NaN 3 3 --- --- TYSND1 219743 broad.mit.edu 37 10 71905929 71905931 + In_Frame_Del DEL CAG CAG - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:71905929_71905931delCAG uc001jqr.2 - 1 566_568 c.412_414delCTG c.(412-414)CTGdel p.L138del TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_In_Frame_Del_p.L138del|TYSND1_uc001jqt.2_Intron NM_173555 NP_775826 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 isoform a 138 proteolysis peroxisome serine-type endopeptidase activity large_intestine(1) 1 CCGGGCAGCTCAGCAGCAGCAGC 0.739 NaN NaN NaN NaN NaN NaN 2 4 --- --- PTEN 5728 broad.mit.edu 37 10 89720700 89720709 + Frame_Shift_Del DEL AGGAAACCTC AGGAAACCTC - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 AGGAAACCTC - AGGAAACCTC AGGAAACCTC Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:89720700_89720709delAGGAAACCTC uc001kfb.2 + 9 1882_1891 c.851_860delAGGAAACCTC c.(850-861)GAGGAAACCTCAfs p.E284fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 284_287 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E284K(1)|p.G165_*404del(1)|p.S287fs*1(1)|p.G165_K342del(1)|p.E284*(1)|p.S287fs*8(1)|p.S287fs*4(1)|p.W274_F341del(1)|p.S287*(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CCAGGACCAGAGGAAACCTCAGAAAAAGTA 0.286 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) NaN NaN NaN NaN NaN 13 33 --- --- C21orf58 54058 broad.mit.edu 37 21 47721985 47721986 + In_Frame_Ins INS - - TGG rs144223236 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:47721985_47721986insTGG uc002zjf.2 - 9 2030_2031 c.896_897insCCA c.(895-897)CAT>CACCAT p.299_299H>HH C21orf58_uc002ziz.2_Intron|C21orf58_uc002zja.2_In_Frame_Ins_p.193_193H>HH|C21orf58_uc011afw.1_In_Frame_Ins_p.216_216H>HH|C21orf58_uc002zjc.2_In_Frame_Ins_p.193_193H>HH|C21orf58_uc011afx.1_In_Frame_Ins_p.193_193H>HH|C21orf58_uc010gqj.1_RNA NM_058180 NP_478060 P58505 CU058_HUMAN hypothetical protein LOC54058 299 Poly-His. pancreas(1) 1 Breast(49;0.112) Colorectal(79;0.239) GCCACACAGCAtggtggtggtg 0.634 NaN NaN NaN NaN NaN NaN 3 5 --- --- EIF4A2 1974 broad.mit.edu 37 3 186504931 186504932 + Frame_Shift_Del DEL AC AC - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:186504931_186504932delAC uc003fqs.2 + 8 826_827 c.787_788delAC c.(787-789)ACAfs p.T263fs EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Frame_Shift_Del_p.T264fs|EIF4A2_uc003fqv.2_Frame_Shift_Del_p.T168fs|EIF4A2_uc003fqw.2_Frame_Shift_Del_p.T168fs|EIF4A2_uc011bsb.1_Frame_Shift_Del_p.T136fs|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 263 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) GAAGTTGGATACACTTTGTGAC 0.361 NaN T BCL6 NHL NaN NaN NaN NaN NaN 56 178 --- --- KIFC1 3833 broad.mit.edu 37 6 33372709 33372709 + Frame_Shift_Del DEL G G - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:33372709delG uc003oef.3 + 7 1287 c.837delG c.(835-837)CAGfs p.Q279fs KIFC1_uc011drf.1_Frame_Shift_Del_p.Q271fs NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 279 Potential. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 CTGTGGCCCAGGCAGCCTTAC 0.587 NaN NaN NaN NaN NaN NaN 10 80 --- --- CDKN1A 1026 broad.mit.edu 37 6 36652121 36652122 + Frame_Shift_Ins INS - - C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 - C - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:36652121_36652122insC uc003omm.3 + 2 365_366 c.243_244insC c.(241-246)GGGCCCfs p.G81fs CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.G115fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.G81fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.G81fs NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 81_82 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 TTCCCACGGGGCCCCGGCGAGG 0.653 NaN Multiple_Endocrine_Neoplasia_type_1 NaN NaN NaN NaN NaN 8 23 --- --- SGK3 23678 broad.mit.edu 37 8 67748054 67748054 + Frame_Shift_Del DEL G G - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:67748054delG uc003xwr.2 + 9 881 c.582delG c.(580-582)CAGfs p.Q194fs SGK3_uc003xwp.2_Frame_Shift_Del_p.Q188fs|SGK3_uc003xwt.2_Frame_Shift_Del_p.Q194fs|SGK3_uc003xwu.2_Frame_Shift_Del_p.Q194fs NM_001033578 NP_001028750 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase 3 isoform 194 Protein kinase. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity ovary(1)|large_intestine(1)|lung(1)|breast(1) 4 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) AAGTGTTACAGAAAAAAATAG 0.289 NaN NaN NaN NaN NaN NaN 19 48 --- ---