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 TAS1R3 83756 broad.mit.edu 37 1 1268918 1268918 + Nonsense_Mutation SNP G G T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:1268918G>T uc010nyk.1 + 6 1633 c.1633G>T c.(1633-1635)GAG>TAG p.E545* NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 545 Extracellular (Potential).|Required for brazzein responsiveness. detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor 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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) TGGCCAGGATGAGTGGTCCCC 0.637 NaN 1 0 1.88708e-17 0.008361 2.09522e-17 22 60 CD164L2 388611 broad.mit.edu 37 1 27706644 27706644 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:27706644C>T uc001boc.2 - 5 491 c.415G>A c.(415-417)GGG>AGG p.G139R NM_207397 NP_997280 Q6UWJ8 C16L2_HUMAN CD164 sialomucin-like 2 139 Extracellular (Potential). integral to membrane 0 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AAGCTGGCCCCGTCAAATCCA 0.617 NaN 0 0 0 0.00308 0 5 93 FOXD2 2306 broad.mit.edu 37 1 47904409 47904409 + Nonsense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:47904409G>A uc001crm.2 + 1 2721 c.602G>A c.(601-603)TGG>TAG p.W201* NM_004474 NP_004465 O60548 FOXD2_HUMAN forkhead box D2 201 Fork-head. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 READ - Rectum adenocarcinoma(2;0.0908) GGCAACTACTGGACGCTGGAC 0.672 NaN 0 0 0 0.01441 0 53 131 CRNN 49860 broad.mit.edu 37 1 152382699 152382700 + Missense_Mutation DNP CA CA TG TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:152382699_152382700CA>TG uc001ezx.2 - 3 932_933 c.858_859TG>CA c.(856-861)CATGCT>CACACT p.A287T NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 287 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTATCTGAGCATGTCCTCCTG 0.614 NaN 0 0 0 0.004672 0 7 508 PYGO2 90780 broad.mit.edu 37 1 154933468 154933468 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:154933468C>A uc001fft.2 - 2 344 c.138G>T c.(136-138)AGG>AGT p.R46S NM_138300 NP_612157 Q9BRQ0 PYGO2_HUMAN pygopus homolog 2 46 Nuclear localization signal (Potential).|Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding skin(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TATTTGACTTCCTTCGCTTCT 0.502 NaN 1 0 6.40141e-05 0.010729 6.80713e-05 8 436 PIGC 5279 broad.mit.edu 37 1 172410941 172410941 + Silent SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:172410941A>G uc001gil.2 - 2 1103 c.822T>C c.(820-822)CTT>CTC p.L274L PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Silent_p.L274L|PIGC_uc001gio.2_Silent_p.L274L NM_153747 NP_714969 Q92535 PIGC_HUMAN phosphatidylinositol glycan, class C 274 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity lung(1) 1 TTTCTTTAAAAAGCTGCAAGC 0.438 NaN 0 0 0 0.006122 0 17 57 ASPM 259266 broad.mit.edu 37 1 197059202 197059202 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:197059202C>T uc001gtu.2 - 25 10099 c.9842G>A c.(9841-9843)AGA>AAA p.R3281K ASPM_uc001gtv.2_Missense_Mutation_p.R1696K|ASPM_uc001gtw.3_Missense_Mutation_p.R1129K NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3281 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TGGAGACAATCTAGTAACTAC 0.333 NaN 0 0 0 0.006122 0 14 37 PPFIA4 8497 broad.mit.edu 37 1 203025554 203025554 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:203025554G>A uc001gyz.2 + 5 1233 c.640G>A c.(640-642)GAG>AAG p.E214K PPFIA4_uc009xaj.2_Missense_Mutation_p.E845K|PPFIA4_uc010pqf.1_Missense_Mutation_p.E427K|PPFIA4_uc001gza.2_Missense_Mutation_p.E214K|PPFIA4_uc001gzb.1_5'Flank NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 214 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 CATAAAATGTGAGACTTCTCC 0.577 NaN 0 0 0 0.010729 0 9 51 NFASC 23114 broad.mit.edu 37 1 204951129 204951129 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:204951129C>T uc001hbj.2 + 21 2779 c.2451C>T c.(2449-2451)ATC>ATT p.I817I NFASC_uc010pra.1_Silent_p.I813I|NFASC_uc001hbi.2_Silent_p.I813I|NFASC_uc010prb.1_Silent_p.I828I|NFASC_uc010prc.1_Silent_p.I384I|NFASC_uc001hbk.1_Silent_p.I623I|NFASC_uc001hbl.1_Silent_p.I67I NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 817 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGTCCGTCATCGGTTACTCCG 0.607 NaN 0 0 0 0.016723 0 9 19 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:37431050G>C uc001iza.1 + 7 1156 c.1057G>C c.(1057-1059)GCA>CCA p.A353P NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATTTACGTGGGCAGCAAAAGG 0.408 NaN 0 0 0 0.009096 0 4 61 ZNF248 57209 broad.mit.edu 37 10 38121105 38121105 + Nonsense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:38121105G>C uc001izd.1 - 6 1677 c.1178C>G c.(1177-1179)TCA>TGA p.S393* ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Nonsense_Mutation_p.S393* NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 393 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGTGAGGTTTGACTTCTCCCA 0.453 NaN 0 0 0 0.016522 0 23 70 EGR2 1959 broad.mit.edu 37 10 64575663 64575663 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:64575663C>G uc010qim.1 - 2 281 c.127G>C c.(127-129)GAA>CAA p.E43Q EGR2_uc010qin.1_5'UTR|EGR2_uc001jmi.2_Missense_Mutation_p.E43Q|EGR2_uc010qio.1_Missense_Mutation_p.E56Q|EGR2_uc009xph.2_Missense_Mutation_p.E43Q NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 43 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) CCTCCCAGTTCGGCATTGGGA 0.622 NaN 0 0 0 0.009096 0 4 140 PANK1 53354 broad.mit.edu 37 10 91353589 91353589 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:91353589C>T uc001kgp.1 - 4 1624 c.1468G>A c.(1468-1470)GGA>AGA p.G490R PANK1_uc001kgn.1_Missense_Mutation_p.G265R|PANK1_uc001kgo.1_Intron|PANK1_uc009xtu.1_Missense_Mutation_p.G292R|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank NM_148977 NP_683878 Q8TE04 PANK1_HUMAN pantothenate kinase 1 isoform alpha 490 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity 0 Bezafibrate(DB01393) ACAGCAGATCCTTGAAGGCCA 0.448 NaN 0 0 0 0.008291 0 7 155 C10orf79 80217 broad.mit.edu 37 10 105948076 105948076 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:105948076C>T uc001kxw.2 - 13 1755 c.1639G>A c.(1639-1641)GGG>AGG p.G547R C10orf79_uc009xxq.2_5'Flank|C10orf79_uc001kxx.3_Missense_Mutation_p.G548R NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 547 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) CTGCTTCTCCCTGCTTCTGGA 0.463 NaN 0 0 0 0.004672 0 3 46 ACADSB 36 broad.mit.edu 37 10 124793889 124793889 + Silent SNP G G T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:124793889G>T uc001lhb.2 + 2 177 c.60G>T c.(58-60)CTG>CTT p.L20L ACADSB_uc010qub.1_5'UTR NM_001609 NP_001600 P45954 ACDSB_HUMAN acyl-Coenzyme A dehydrogenase, short/branched 20 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) GAAATTTCCTGACTTGTTTGT 0.353 NaN 1 0 1.37522e-17 0.007413 1.53821e-17 15 22 KLC2 64837 broad.mit.edu 37 11 66033397 66033397 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr11:66033397C>T uc010rov.1 + 13 1759 c.1516C>T c.(1516-1518)CGC>TGC p.R506C KLC2_uc010row.1_Missense_Mutation_p.R506C|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R506C|KLC2_uc010rox.1_Missense_Mutation_p.R429C|KLC2_uc001ohc.2_Missense_Mutation_p.R506C|KLC2_uc001ohd.2_Missense_Mutation_p.R429C|KLC2_uc001ohe.1_Missense_Mutation_p.R367C|RAB1B_uc001ohf.2_5'Flank NM_001134775 NP_001128247 Q9H0B6 KLC2_HUMAN kinesin light chain 2 isoform 1 506 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 GGGAGACCGCCGCAGCAGCCG 0.667 NaN 0 0 0 0.001168 0 4 67 ODZ4 26011 broad.mit.edu 37 11 78419499 78419499 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr11:78419499G>C uc001ozl.3 - 27 4579 c.4116C>G c.(4114-4116)ATC>ATG p.I1372M NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1372 Extracellular (Potential).|NHL 3. signal transduction integral to membrane ovary(2)|pancreas(2) 4 CATTCTGATCGATGCGTCTGA 0.507 NaN 0 0 0 0.00623 0 37 20 SYTL2 54843 broad.mit.edu 37 11 85420380 85420380 + Nonsense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr11:85420380G>C uc010rth.1 - 12 2270 c.1994C>G c.(1993-1995)TCA>TGA p.S665* SYTL2_uc010rtg.1_Nonsense_Mutation_p.S666*|SYTL2_uc010rti.1_Nonsense_Mutation_p.S641*|SYTL2_uc010rtj.1_Nonsense_Mutation_p.S633*|SYTL2_uc001pav.2_Nonsense_Mutation_p.S107*|SYTL2_uc010rte.1_Nonsense_Mutation_p.S67*|SYTL2_uc001pax.2_Nonsense_Mutation_p.S107*|SYTL2_uc001paz.2_5'UTR|SYTL2_uc001pba.2_Nonsense_Mutation_p.S50*|SYTL2_uc001pay.2_Nonsense_Mutation_p.S96*|SYTL2_uc001paw.2_Nonsense_Mutation_p.S67*|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Nonsense_Mutation_p.S963*|SYTL2_uc001pbb.2_Nonsense_Mutation_p.S1003*|SYTL2_uc001pbc.2_Nonsense_Mutation_p.S987*|SYTL2_uc010rtf.1_Nonsense_Mutation_p.S483* NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 665 C2 1. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TTACGGGTCTGAACGCTGTTT 0.413 NaN 0 0 0 0.01441 0 40 49 PRB2 653247 broad.mit.edu 37 12 11546868 11546868 + Silent SNP T T C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:11546868T>C uc010shk.1 - 3 179 c.144A>G c.(142-144)CAA>CAG p.Q48Q NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ATGGGGGACCTTGAGGTTTGT 0.547 NaN 0 0 0 0.00308 0 5 217 KRT73 319101 broad.mit.edu 37 12 53007514 53007514 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:53007514G>A uc001sas.2 - 5 977 c.942C>T c.(940-942)GCC>GCT p.A314A NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 314 Rod.|Coil 2. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) TGCTCTTCCGGGCGATCTCCT 0.587 NaN 0 0 0 0.012319 0 19 71 HOXC4 3221 broad.mit.edu 37 12 54448079 54448079 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:54448079C>T uc001seu.2 + 3 1053 c.373C>T c.(373-375)CCC>TCC p.P125S HOXC4_uc001sex.2_Missense_Mutation_p.P125S NM_014620 NP_055435 P09017 HXC4_HUMAN homeobox C4 125 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCCCGACCATCCCTCCAGCGC 0.582 NaN 0 0 0 0.00308 0 6 27 TMEM5 10329 broad.mit.edu 37 12 64196067 64196067 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:64196067G>C uc001srq.1 + 4 729 c.625G>C c.(625-627)GAG>CAG p.E209Q TMEM5_uc001srr.1_Missense_Mutation_p.E106Q|TMEM5_uc001srs.1_5'UTR NM_014254 NP_055069 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 209 Extracellular (Potential). integral to plasma membrane 0 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TTGTGATAATGAGTGGATAAA 0.393 NaN 0 0 0 0.006214 0 8 36 XPOT 11260 broad.mit.edu 37 12 64812728 64812728 + Missense_Mutation SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:64812728A>G uc001ssb.2 + 6 769 c.343A>G c.(343-345)ACA>GCA p.T115A XPOT_uc009zqm.1_Missense_Mutation_p.T25A NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 115 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) GCTTTTTGTTACAGAGTATCT 0.433 NaN 0 0 0 0.001168 0 5 42 XPOT 11260 broad.mit.edu 37 12 64812733 64812733 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:64812733G>A uc001ssb.2 + 6 774 c.348G>A c.(346-348)GAG>GAA p.E116E XPOT_uc009zqm.1_Silent_p.E26E NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 116 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) TTGTTACAGAGTATCTCACTA 0.438 NaN 0 0 0 0.001168 0 5 42 XPOT 11260 broad.mit.edu 37 12 64812808 64812808 + Silent SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:64812808C>G uc001ssb.2 + 6 849 c.423C>G c.(421-423)CTC>CTG p.L141L XPOT_uc009zqm.1_Silent_p.L51L NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 141 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) GAGTAGATCTCTACCTGCGAA 0.398 NaN 0 0 0 0.006214 0 9 98 OSBPL8 114882 broad.mit.edu 37 12 76763454 76763454 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:76763454C>G uc001sye.1 - 20 2683 c.2203G>C c.(2203-2205)GAT>CAT p.D735H OSBPL8_uc001syf.1_Missense_Mutation_p.D693H|OSBPL8_uc001syg.1_Missense_Mutation_p.D693H|OSBPL8_uc001syh.1_Missense_Mutation_p.D710H NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 735 lipid transport lipid binding ovary(1) 1 GTGAGTGGATCAAGTTCAAAT 0.358 NaN 0 0 0 0.012319 0 17 56 SDSL 113675 broad.mit.edu 37 12 113873341 113873341 + Silent SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:113873341C>G uc001tvi.2 + 7 861 c.651C>G c.(649-651)GTC>GTG p.V217V SDSL_uc009zwh.2_Silent_p.V217V NM_138432 NP_612441 Q96GA7 SDSL_HUMAN serine dehydratase-like 217 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) GCAAGCTGGTCACACTTCCAG 0.622 NaN 0 0 0 0.009718 0 35 180 DNAH10 196385 broad.mit.edu 37 12 124345688 124345688 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:124345688C>G uc001uft.3 + 38 6550 c.6525C>G c.(6523-6525)ATC>ATG p.I2175M NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2175 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCAGGGAAATCAACAAGCCAA 0.463 NaN 0 0 0 0.004482 0 7 30 TUBA3C 7278 broad.mit.edu 37 13 19751303 19751303 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr13:19751303G>A uc009zzj.2 - 4 869 c.820C>T c.(820-822)CCG>TCG p.P274S NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 274 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GAGATGACCGGGGCGTAGGTG 0.607 NaN 0 0 0 0.01441 0 49 173 RB1 5925 broad.mit.edu 37 13 48947629 48947629 + Splice_Site SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr13:48947629G>A uc001vcb.2 + 12 1381 c.1215_splice c.e12+1 p.N405_splice RB1_uc010act.1_Splice_Site_p.N106_splice NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 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.?(14) 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) CTATTTTAACGTAAGCCATAT 0.264 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) 0 0 0 0.00499 0 17 29 POTEG 404785 broad.mit.edu 37 14 19553680 19553680 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr14:19553680C>T uc001vuz.1 + 1 316 c.264C>T c.(262-264)GAC>GAT p.D88D POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 88 ovary(1) 1 ACCACGACGACTCTGCTATGA 0.617 NaN 0 0 0 0.001984 0 6 393 MDGA2 161357 broad.mit.edu 37 14 47530528 47530528 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr14:47530528C>T uc001wwj.3 - 7 1438 c.1242G>A c.(1240-1242)ACG>ACA p.T414T MDGA2_uc001wwi.3_Silent_p.T185T|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 414 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CACATGTGTACGTCCCAAAAT 0.408 NaN 0 0 0 0.01441 0 36 120 OTX2 5015 broad.mit.edu 37 14 57268797 57268797 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr14:57268797G>A uc001xcp.2 - 3 697 c.526C>T c.(526-528)CCC>TCC p.P176S OTX2_uc010aou.2_Missense_Mutation_p.P176S|OTX2_uc001xcq.2_Missense_Mutation_p.P184S NM_172337 NP_758840 P32243 OTX2_HUMAN orthodenticle homeobox 2 isoform b 176 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding ovary(1) 1 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) TAGGTCATGGGATAGGACCTC 0.522 NaN 0 0 0 0.006122 0 13 42 CHAC1 79094 broad.mit.edu 37 15 41245807 41245807 + Missense_Mutation SNP A A T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr15:41245807A>T uc001znh.2 + 1 172 c.152A>T c.(151-153)AAC>ATC p.N51I CHAC1_uc010uct.1_Missense_Mutation_p.N51I NM_024111 NP_077016 Q9BUX1 CHAC1_HUMAN ChaC, cation transport regulator-like 1 isoform 51 apoptosis in response to endoplasmic reticulum stress|response to unfolded protein cytosol protein binding 0 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163) GCAGCCCCGAACACCCCGCCC 0.687 NaN 0 0 0 0.010504 0 13 60 KIF23 9493 broad.mit.edu 37 15 69709843 69709843 + Missense_Mutation SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr15:69709843A>G uc002asb.2 + 3 320 c.203A>G c.(202-204)TAT>TGT p.Y68C KIF23_uc002asc.2_Missense_Mutation_p.Y68C|KIF23_uc010bii.2_Missense_Mutation_p.I4V|KIF23_uc010bih.1_RNA NM_138555 NP_612565 Q02241 KIF23_HUMAN kinesin family member 23 isoform 1 68 Kinesin-motor. blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding 0 AATGGAGACTATAAGGAGGTA 0.378 NaN 0 0 0 0.007835 0 33 75 CSK 1445 broad.mit.edu 37 15 75094356 75094356 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr15:75094356G>A uc010bkb.1 + 13 1285 c.1102G>A c.(1102-1104)GAC>AAC p.D368N CSK_uc002ays.2_Missense_Mutation_p.D368N|CSK_uc010bkc.1_Missense_Mutation_p.D177N NM_001127190 NP_001120662 P41240 CSK_HUMAN c-src tyrosine kinase 368 Protein kinase. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding lung(2)|central_nervous_system(1) 3 CACTAAGTCTGACGTGTGGAG 0.532 NaN 0 0 0 0.015359 0 26 52 CSK 1445 broad.mit.edu 37 15 75094364 75094364 + Missense_Mutation SNP G G T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr15:75094364G>T uc010bkb.1 + 13 1293 c.1110G>T c.(1108-1110)TGG>TGT p.W370C CSK_uc002ays.2_Missense_Mutation_p.W370C|CSK_uc010bkc.1_Missense_Mutation_p.W179C NM_001127190 NP_001120662 P41240 CSK_HUMAN c-src tyrosine kinase 370 Protein kinase. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding lung(2)|central_nervous_system(1) 3 CTGACGTGTGGAGTTTCGGAA 0.537 NaN 1 0 2.87052e-16 0.005524 3.16386e-16 27 52 MSLNL 401827 broad.mit.edu 37 16 830490 830490 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr16:830490G>A uc002cjz.1 - 3 511 c.511C>T c.(511-513)CGC>TGC p.R171C NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like Error:Variant_position_missing_in_Q96KJ4_after_alignment cell adhesion integral to membrane breast(3)|ovary(1) 4 GGATGCGTGCGGGCACGCATG 0.547 NaN 0 0 0 0.001168 0 5 190 PDILT 204474 broad.mit.edu 37 16 20370721 20370721 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr16:20370721C>T uc002dhc.1 - 12 1898 c.1675G>A c.(1675-1677)GAG>AAG p.E559K NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 559 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 ACCACCTCCTCAGATGTTTTC 0.493 NaN 0 0 0 0.01441 0 50 282 SMTNL2 342527 broad.mit.edu 37 17 4496232 4496232 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:4496232G>A uc002fyf.1 + 3 563 c.496G>A c.(496-498)GAT>AAT p.D166N SMTNL2_uc002fye.2_Missense_Mutation_p.D22N NM_001114974 NP_001108446 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 isoform 1 166 0 READ - Rectum adenocarcinoma(115;0.0325) AGGTCCAGGCGATGGACCCCC 0.662 NaN 0 0 0 0.006999 0 31 19 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:7577085C>T uc002gim.2 - 8 1047 c.853G>A c.(853-855)GAG>AAG p.E285K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 285 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (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.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(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) TTCTCTTCCTCTGTGCGCCGG 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 0.007413 0 18 23 EFCAB5 374786 broad.mit.edu 37 17 28380460 28380460 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:28380460G>A uc002het.2 + 10 1680 c.1488G>A c.(1486-1488)CAG>CAA p.Q496Q EFCAB5_uc010wbi.1_Silent_p.Q239Q|EFCAB5_uc010wbj.1_Silent_p.Q440Q|EFCAB5_uc010wbk.1_Silent_p.Q153Q|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Silent_p.Q375Q|EFCAB5_uc010csf.2_Silent_p.Q375Q NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 496 calcium ion binding ovary(1)|skin(1) 2 TTAACGAACAGAGAACATCAA 0.393 NaN 0 0 0 0.020292 0 12 41 ZNF652 22834 broad.mit.edu 37 17 47395037 47395037 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:47395037C>T uc002iov.3 - 2 515 c.51G>A c.(49-51)GTG>GTA p.V17V ZNF652_uc002iow.2_Silent_p.V17V|ZNF652_uc002iou.3_RNA NM_001145365 NP_001138837 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) CTGCTACATGCACAGCACAGT 0.448 NaN 0 0 0 0.00308 0 5 38 MED13 9969 broad.mit.edu 37 17 60028189 60028189 + Silent SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:60028189A>G uc002izo.2 - 28 6365 c.6288T>C c.(6286-6288)CTT>CTC p.L2096L NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 2096 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 GCAATACCTTAAGAAAAAGGG 0.413 NaN 0 0 0 0.01441 0 39 81 ITGB4 3691 broad.mit.edu 37 17 73723498 73723498 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:73723498G>A uc002jpg.2 + 4 363 c.176G>A c.(175-177)CGG>CAG p.R59Q ITGB4_uc002jph.2_Missense_Mutation_p.R59Q|ITGB4_uc010dgo.2_Missense_Mutation_p.R59Q|ITGB4_uc002jpi.3_Missense_Mutation_p.R59Q|ITGB4_uc010dgp.1_Missense_Mutation_p.R59Q|ITGB4_uc002jpj.2_Missense_Mutation_p.R59Q NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 59 PSI.|Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TTCAGGGACCGGCGCTGCAAC 0.637 NaN 0 0 0 0.016723 0 10 41 FAM59A 64762 broad.mit.edu 37 18 29848220 29848220 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr18:29848220C>T uc002kxl.2 - 6 2301 c.2245G>A c.(2245-2247)GAT>AAT p.D749N FAM59A_uc002kxk.1_Missense_Mutation_p.D748N NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 749 ovary(1)|skin(1) 2 TCAGCACCATCAATTTTCAGA 0.522 NaN 0 0 0 0.004656 0 23 56 FEM1A 55527 broad.mit.edu 37 19 4792857 4792857 + Nonsense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:4792857C>T uc002mbf.2 + 1 1130 c.991C>T c.(991-993)CAG>TAG p.Q331* uc002mbg.1_RNA NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN fem-1 homolog a 331 TPR 1. regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GCTGCGTCACCAGGGGGGCGA 0.602 NaN 0 0 0 0.005443 0 22 40 MUC16 94025 broad.mit.edu 37 19 9048764 9048764 + Missense_Mutation SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:9048764A>G uc002mkp.2 - 5 33071 c.32867T>C c.(32866-32868)CTT>CCT p.L10956P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10958 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGGTTCACCAAGAGAAAAAGT 0.498 NaN 0 0 0 0.00308 0 4 86 MUC16 94025 broad.mit.edu 37 19 9048771 9048771 + Missense_Mutation SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:9048771A>G uc002mkp.2 - 5 33064 c.32860T>C c.(32860-32862)TTT>CTT p.F10954L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10956 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCAAGAGAAAAAGTCAGAATT 0.483 NaN 0 0 0 0.00308 0 4 90 ZNF878 729747 broad.mit.edu 37 19 12155757 12155757 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:12155757C>A uc002mta.1 - 5 600 c.600G>T c.(598-600)AGG>AGT p.R200S NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 153 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 AACTGGGAAACCTGAATGCTT 0.423 NaN 1 0 5.18039e-06 0.00308 5.5478e-06 7 94 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:12501446T>C uc010dyt.2 - 4 1916 c.1766A>G c.(1765-1767)GAA>GGA p.E589G ZNF799_uc002mts.3_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN zinc finger protein 799 589 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 TTCCTTACATTCATACGGGTT 0.413 NaN 0 0 0 0.004672 0 3 36 ZNF564 163050 broad.mit.edu 37 19 12637723 12637723 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:12637723C>T uc002mty.2 - 4 1409 c.1199G>A c.(1198-1200)AGA>AAA p.R400K ZNF709_uc002mtx.3_Intron NM_144976 NP_659413 Q8TBZ8 ZN564_HUMAN zinc finger protein 564 400 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTCAAAGGCTCTACCACATAC 0.433 NaN 0 0 0 0.001168 0 5 118 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:21606712T>C uc002npx.2 + 2 1147 c.867T>C c.(865-867)TCT>TCC p.S289S ZNF493_uc002npw.2_Silent_p.S417S|ZNF493_uc002npy.2_Silent_p.S289S NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 289 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATAAGGAGTCTTCACACCTTA 0.348 NaN 0 0 0 0.014758 0 4 35 ZNF208 7757 broad.mit.edu 37 19 22156621 22156621 + Silent SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:22156621A>G uc002nqp.2 - 4 1364 c.1215T>C c.(1213-1215)GGT>GGC p.G405G ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ACATACTAAAACCTTTGCCAC 0.393 NaN 0 0 0 0.004672 0 3 62 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:23544783C>T uc002nre.2 - 4 1111 c.998G>A c.(997-999)CGT>CAT p.R333H ZNF91_uc010xrj.1_Missense_Mutation_p.R301H NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 333 C2H2-type 7. R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393 NaN 0 0 0 0.001984 0 6 94 ZNF681 148213 broad.mit.edu 37 19 23927146 23927146 + Silent SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:23927146A>G uc002nrk.3 - 4 1348 c.1206T>C c.(1204-1206)GCT>GCC p.A402A ZNF681_uc002nrl.3_Silent_p.A333A|ZNF681_uc002nrj.3_Silent_p.A333A NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 402 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACTTGTTAAAAGCTTTGCCAC 0.398 NaN 0 0 0 0.001984 0 3 66 ZNF599 148103 broad.mit.edu 37 19 35251038 35251038 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:35251038C>G uc010edn.1 - 4 1056 c.668G>C c.(667-669)GGA>GCA p.G223A ZNF599_uc010edm.1_Missense_Mutation_p.G186A NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 223 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) GGGCTTCACTCCAGCATGAAT 0.473 NaN 0 0 0 0.004482 0 6 204 SIPA1L3 23094 broad.mit.edu 37 19 38579389 38579389 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:38579389G>A uc002ohk.2 + 4 2072 c.1563G>A c.(1561-1563)GAG>GAA p.E521E NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 521 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCGTGGATGAGAAGCTGGGGC 0.587 NaN 0 0 0 0.020292 0 15 33 LIPE 3991 broad.mit.edu 37 19 42931254 42931254 + Silent SNP T T C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:42931254T>C uc002otr.2 - 1 325 c.48A>G c.(46-48)GAA>GAG p.E16E uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 16 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) TCTGGTGTGGTTCAGGTTGCC 0.517 NaN 0 0 0 0.006214 0 7 28 ZNF229 7772 broad.mit.edu 37 19 44933766 44933766 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:44933766C>T uc002oze.1 - 6 1624 c.1190G>A c.(1189-1191)AGG>AAG p.R397K ZNF229_uc010ejk.1_Missense_Mutation_p.R51K|ZNF229_uc010ejl.1_Missense_Mutation_p.R391K NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 397 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) AGTGTGGACCCTCTGATGGAC 0.502 NaN 0 0 0 0.013726 0 32 51 ZNF577 84765 broad.mit.edu 37 19 52376698 52376698 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:52376698C>A uc010yde.1 - 7 936 c.545G>T c.(544-546)GGA>GTA p.G182V ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.G123V|ZNF577_uc002pxv.2_Missense_Mutation_p.G175V|ZNF577_uc002pxw.2_Missense_Mutation_p.G116V NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GGGTTTCTCTCCTCTTTCAGT 0.468 NaN 1 0 0.000602214 0.014758 0.000627134 4 88 ZNF611 81856 broad.mit.edu 37 19 53209409 53209409 + Nonsense_Mutation SNP G G T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:53209409G>T uc002pzz.2 - 7 1216 c.899C>A c.(898-900)TCA>TAA p.S300* ZNF611_uc010eqc.2_Nonsense_Mutation_p.S230*|ZNF611_uc010ydo.1_Nonsense_Mutation_p.S230*|ZNF611_uc010ydr.1_Nonsense_Mutation_p.S231*|ZNF611_uc010ydp.1_Nonsense_Mutation_p.S300*|ZNF611_uc010ydq.1_Nonsense_Mutation_p.S300*|ZNF611_uc002qaa.3_Nonsense_Mutation_p.S230* NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 300 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) GGTAAGGGATGACTCCTGACT 0.413 NaN 1 0 7.38237e-10 0.00632 7.96241e-10 27 192 ZNF347 84671 broad.mit.edu 37 19 53644362 53644362 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:53644362C>T uc002qbb.1 - 5 1788 c.1719G>A c.(1717-1719)GAG>GAA p.E573E ZNF347_uc010eql.1_Silent_p.E574E|ZNF347_uc002qbc.1_Silent_p.E574E NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 573 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) CCTTGCCACACTCATTACATT 0.408 NaN 0 0 0 0.00308 0 5 247 ZNF628 89887 broad.mit.edu 37 19 55993619 55993619 + Silent SNP G G T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:55993619G>T uc002qld.2 + 3 1612 c.1047G>T c.(1045-1047)GCG>GCT p.A349A NAT14_uc002qle.1_5'Flank NM_033113 NP_149104 Q5EBL2 ZN628_HUMAN zinc finger protein 628 349 Pro-rich. nucleus DNA binding|zinc ion binding 0 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) CCGCCCCCGCGCCTGGCTTTG 0.771 NaN 1 0 2.61681e-11 0.020292 2.84273e-11 10 6 LRRTM1 347730 broad.mit.edu 37 2 80530714 80530714 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:80530714G>A uc002sok.1 - 2 501 c.231C>T c.(229-231)CTC>CTT p.L77L CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 77 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GCAGCTCCGAGAGGCTGTTGT 0.647 NaN HNSCC(69;0.2) 0 0 0 0.009096 0 4 63 NEB 4703 broad.mit.edu 37 2 152484126 152484126 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:152484126C>T uc010fnx.2 - 65 9516 c.9325G>A c.(9325-9327)GAC>AAC p.D3109N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3109 Nebulin 84. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTTGTAGTCCACATCGCTG 0.522 NaN 0 0 0 0.004482 0 8 250 TTN 7273 broad.mit.edu 37 2 179613777 179613777 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:179613777G>C uc002unb.2 - 46 13574 c.13350C>G c.(13348-13350)CAC>CAG p.H4450Q TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCCCGGGTAGTGTATCTCTT 0.333 NaN 0 0 0 0.014758 0 4 35 NBEAL1 65065 broad.mit.edu 37 2 204058632 204058632 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:204058632G>C uc002uzt.3 + 46 7282 c.6949G>C c.(6949-6951)GAG>CAG p.E2317Q NBEAL1_uc002uzs.3_Intron NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 2317 binding ovary(1)|skin(1) 2 ATTTTTTATAGAGGTAATATC 0.308 NaN 0 0 0 0.014758 0 3 36 SMARCAL1 50485 broad.mit.edu 37 2 217342939 217342939 + Missense_Mutation SNP G G C rs119473033 TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:217342939G>C uc002vgc.3 + 17 2872 c.2542G>C c.(2542-2544)GAG>CAG p.E848Q SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.E848Q|SMARCAL1_uc010fvg.2_Missense_Mutation_p.E826Q NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 848 Helicase C-terminal. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CCTGATTCAAGAGAAGATTAA 0.458 NaN Schimke_Immuno-Osseous_Dysplasia 0 0 0 0.007835 0 33 51 DOCK10 55619 broad.mit.edu 37 2 225651829 225651829 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:225651829G>A uc010fwz.1 - 50 5804 c.5565C>T c.(5563-5565)GAC>GAT p.D1855D DOCK10_uc002vob.2_Silent_p.D1849D|DOCK10_uc002voa.2_Silent_p.D511D|DOCK10_uc002voc.2_Silent_p.D676D NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1855 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ACCGATGAATGTCGTAGTAGA 0.403 NaN 0 0 0 0.001168 0 5 69 SLC16A14 151473 broad.mit.edu 37 2 230911105 230911105 + Missense_Mutation SNP G G C rs111627569 TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:230911105G>C uc002vqd.1 - 4 1100 c.737C>G c.(736-738)ACA>AGA p.T246R FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.T246R|SLC16A14_uc002vqf.2_Missense_Mutation_p.T246R NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 246 Extracellular (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) CTTCTCTTCTGTTCTTCCCTG 0.582 NaN 0 0 0 0.001984 0 5 106 SRC 6714 broad.mit.edu 37 20 36012632 36012632 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr20:36012632G>A uc002xgx.2 + 4 525 c.76G>A c.(76-78)GGC>AGC p.G26S SRC_uc002xgy.2_Missense_Mutation_p.G26S NM_005417 NP_005408 P12931 SRC_HUMAN proto-oncogene tyrosine-protein kinase SRC 26 axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1) 13 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) GAACGTGCACGGCGCTGGCGG 0.741 NaN 0 0 0 0.004482 0 4 31 KCNQ2 3785 broad.mit.edu 37 20 62044922 62044922 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr20:62044922G>A uc002yey.1 - 15 1821 c.1644C>T c.(1642-1644)TTC>TTT p.F548F KCNQ2_uc002yez.1_Silent_p.F517F|KCNQ2_uc002yfa.1_Silent_p.F530F|KCNQ2_uc002yfb.1_Silent_p.F520F NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 548 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TGGACACCAGGAACCGCATGA 0.647 NaN 0 0 0 0.013726 0 30 85 BCL2L13 23786 broad.mit.edu 37 22 18210132 18210132 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr22:18210132G>A uc002zmw.2 + 7 1508 c.1290G>A c.(1288-1290)GAG>GAA p.E430E BCL2L13_uc002zmx.2_Silent_p.E268E|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Silent_p.E268E|BCL2L13_uc011agk.1_Silent_p.E306E|BCL2L13_uc010gqz.2_Silent_p.E150E|BCL2L13_uc002zmz.2_Silent_p.E268E|BCL2L13_uc002zna.2_Silent_p.E150E NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 430 B. induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) CTGCCAGCGAGAAGAAGCCCG 0.592 NaN 0 0 0 0.016723 0 12 29 GNAZ 2781 broad.mit.edu 37 22 23438065 23438065 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr22:23438065C>T uc002zwu.1 + 2 720 c.183C>T c.(181-183)TTC>TTT p.F61F RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 61 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) GCGGCGGCTTCAACCTGGAGG 0.597 NaN 0 0 0 0.01441 0 56 98 NDUFA6 4700 broad.mit.edu 37 22 42486786 42486786 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr22:42486786C>G uc003bcb.2 - 1 103 c.41G>C c.(40-42)TGC>TCC p.C14S uc003bcc.1_5'Flank|uc003bcd.1_5'Flank NM_002490 NP_002481 P56556 NDUA6_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 14 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) CACCCCTTTGCAAGCAGCGCG 0.622 NaN OREG0026602 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 6 212 FANCD2 2177 broad.mit.edu 37 3 10107166 10107166 + Missense_Mutation SNP G G A rs150217066 TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:10107166G>A uc003buw.2 + 24 2335 c.2257G>A c.(2257-2259)GAT>AAT p.D753N FANCD2_uc003bux.1_Missense_Mutation_p.D753N|FANCD2_uc003buy.1_Missense_Mutation_p.D753N|FANCD2_uc010hcw.1_RNA NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 753 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) GGAGGAGATTGATGGTCTACT 0.448 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.013726 0 28 57 NUP210 23225 broad.mit.edu 37 3 13367407 13367407 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:13367407G>A uc003bxv.1 - 33 4615 c.4532C>T c.(4531-4533)TCA>TTA p.S1511L NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1511 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GCTGTTGGCCGAGGAGCTCCA 0.622 NaN 0 0 0 0.010504 0 14 76 STAB1 23166 broad.mit.edu 37 3 52552854 52552854 + Nonsense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:52552854C>G uc003dej.2 + 48 5077 c.5003C>G c.(5002-5004)TCA>TGA p.S1668* STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1668 Extracellular (Potential).|FAS1 5. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ACGGCCCTCTCAGGGCACCCA 0.547 NaN 0 0 0 0.009096 0 4 27 DCBLD2 131566 broad.mit.edu 37 3 98531284 98531284 + Missense_Mutation SNP T T C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:98531284T>C uc003dtd.2 - 10 1618 c.1255A>G c.(1255-1257)AAC>GAC p.N419D DCBLD2_uc003dte.2_Missense_Mutation_p.N419D NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 419 Extracellular (Potential).|F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane ovary(2)|central_nervous_system(1) 3 GGCAAAAAGTTATTACGCACA 0.348 NaN 0 0 0 0.010729 0 12 31 TFG 10342 broad.mit.edu 37 3 100463681 100463681 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:100463681G>C uc003due.2 + 7 1175 c.726G>C c.(724-726)CAG>CAC p.Q242H TFG_uc003duf.2_Missense_Mutation_p.Q242H|TFG_uc003dug.2_Missense_Mutation_p.Q238H|TFG_uc003duh.2_Missense_Mutation_p.Q238H|TFG_uc003dui.2_Missense_Mutation_p.Q242H NM_006070 NP_006061 Q92734 TFG_HUMAN TRK-fused 242 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/ALK(7) haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1) 11 TTTCAGGTCAGATGTACCAAC 0.458 NaN T NTRK1|ALK papillary thyroid|ALCL|NSCLC 0 0 0 0.01441 0 45 102 GRAMD1C 54762 broad.mit.edu 37 3 113619898 113619898 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:113619898C>G uc003eaq.3 + 7 637 c.561C>G c.(559-561)TTC>TTG p.F187L GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.F20L|GRAMD1C_uc003eas.2_5'UTR NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 187 integral to membrane ovary(2)|skin(1) 3 GACAGGAATTCTGGCAACTGC 0.373 NaN 0 0 0 0.01892 0 20 48 RBP1 5947 broad.mit.edu 37 3 139236517 139236517 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:139236517C>T uc003eti.2 - 4 657 c.546G>A c.(544-546)ATG>ATA p.M182I NM_002899 NP_002890 P09455 RET1_HUMAN retinol binding protein 1, cellular isoform a 120 cytoplasm retinal binding|retinol binding|transporter activity 0 Vitamin A(DB00162) CTTCCACTCTCATCTCCTGAA 0.488 NaN 0 0 0 0.00623 0 34 92 ZNF732 654254 broad.mit.edu 37 4 265271 265272 + Missense_Mutation DNP CA CA TG TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr4:265271_265272CA>TG uc011buu.1 - 3 1385_1386 c.1371_1372TG>CA c.(1369-1374)TCTGCA>TCCACA p.A458T ZNF732_uc010ibb.1_Intron NM_001137608 NP_001131080 B4DXR9 ZN732_HUMAN zinc finger protein 732 459 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTCAGGTATGCAGACCATCCAA 0.391 NaN 0 0 0 0.004672 0 3 8 UGT2B28 54490 broad.mit.edu 37 4 70160324 70160324 + Missense_Mutation SNP T T A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr4:70160324T>A uc003hej.2 + 6 1389 c.1387T>A c.(1387-1389)TGG>AGG p.W463R UGT2B28_uc010ihr.2_3'UTR NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 463 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) AGCAGTCTTCTGGATTGAATT 0.413 NaN 0 0 0 0.00874 0 33 79 CCRN4L 25819 broad.mit.edu 37 4 139966392 139966392 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr4:139966392G>C uc003ihl.2 + 3 1253 c.1060G>C c.(1060-1062)GAT>CAT p.D354H NM_012118 NP_036250 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like 354 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_hematologic(180;0.162) GCTGAGTGCTGATGGGCAGTC 0.517 NaN 0 0 0 0.00499 0 15 47 HAND2 9464 broad.mit.edu 37 4 174450071 174450071 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr4:174450071C>G uc003ith.1 - 1 1308 c.370G>C c.(370-372)GAG>CAG p.E124Q NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.R89P|HAND2_uc010ire.1_Missense_Mutation_p.E124Q NM_021973 NP_068808 P61296 HAND2_HUMAN basic helix-loop-helix transcription factor 124 Helix-loop-helix motif. adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity skin(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GGGATGCACTCGCGCAGTTCG 0.557 NaN 0 0 0 0.01441 0 44 131 CCDC110 256309 broad.mit.edu 37 4 186379933 186379933 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr4:186379933C>T uc003ixu.3 - 6 1884 c.1808G>A c.(1807-1809)GGA>GAA p.G603E CCDC110_uc003ixv.3_Missense_Mutation_p.G566E|CCDC110_uc011ckt.1_Missense_Mutation_p.G603E NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 603 Potential. nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TAGTTCATTTCCAAGTGAGCT 0.323 NaN 0 0 0 0.016723 0 11 21 CDH10 1008 broad.mit.edu 37 5 24491853 24491853 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:24491853C>G uc003jgr.1 - 11 2040 c.1708G>C c.(1708-1710)GAC>CAC p.D570H CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 570 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TAATCATTGTCTGATATCACC 0.413 NaN HNSCC(23;0.051) 0 0 0 0.004672 0 3 45 PDZD2 23037 broad.mit.edu 37 5 32074304 32074304 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:32074304C>T uc003jhl.2 + 18 3480 c.3092C>T c.(3091-3093)TCG>TTG p.S1031L PDZD2_uc003jhm.2_Missense_Mutation_p.S1031L|PDZD2_uc011cnx.1_Missense_Mutation_p.S857L NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1031 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AAGGCCATCTCGGCACCTCTT 0.567 NaN 0 0 0 0.01441 0 54 28 DHX29 54505 broad.mit.edu 37 5 54586091 54586091 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:54586091G>C uc003jpx.2 - 7 982 c.862C>G c.(862-864)CAA>GAA p.Q288E DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 288 Potential. ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TTTTGGCCTTGCTTGTTTTTT 0.328 NaN 0 0 0 0.004672 0 3 8 DEPDC1B 55789 broad.mit.edu 37 5 59893730 59893730 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:59893730G>A uc003jsh.2 - 11 1513 c.1440C>T c.(1438-1440)TCC>TCT p.S480S DEPDC1B_uc011cqm.1_Silent_p.S418S|DEPDC1B_uc011cqn.1_Silent_p.S391S NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B isoform 1 480 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1) 1 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) CTTCAGGATAGGATTTCTGAA 0.383 NaN 0 0 0 0.009096 0 4 11 GCNT4 51301 broad.mit.edu 37 5 74324587 74324587 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:74324587C>G uc003kdn.2 - 1 2138 c.1276G>C c.(1276-1278)GAA>CAA p.E426Q NM_016591 NP_057675 Q9P109 GCNT4_HUMAN core 2 beta-1,6-N-acetylglucosaminyltransferase 426 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) TCAAGCTTTTCTGCCAAGCAT 0.373 NaN 0 0 0 0.003163 0 13 25 ANKRD32 84250 broad.mit.edu 37 5 94027275 94027275 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:94027275C>A uc003kkr.3 + 19 2506 c.2426C>A c.(2425-2427)ACA>AAA p.T809K ANKRD32_uc003kks.2_Missense_Mutation_p.T173K NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 809 ANK 1. ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) GCAGGAGAAACAGCCCTGCAT 0.353 NaN 1 0 0.00621372 0.006214 0.00642651 7 22 KCTD16 57528 broad.mit.edu 37 5 143587001 143587001 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:143587001G>A uc003lnm.1 + 3 1353 c.724G>A c.(724-726)GAG>AAG p.E242K KCTD16_uc003lnn.1_Missense_Mutation_p.E242K NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 242 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TATGTTGTCAGAGTGTGGATT 0.428 NaN 0 0 0 0.012213 0 26 66 SCGN 10590 broad.mit.edu 37 6 25665182 25665182 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:25665182G>A uc003nfb.2 + 4 461 c.258G>A c.(256-258)ATG>ATA p.M86I SCGN_uc010jpz.2_5'UTR NM_006998 NP_008929 O76038 SEGN_HUMAN secretagogin precursor 86 EF-hand 2. extracellular region|transport vesicle membrane calcium ion binding ovary(2)|pancreas(1) 3 TTGCTGGTATGTTCTTATCTG 0.478 NaN 0 0 0 0.010504 0 15 38 HIST1H2BO 8348 broad.mit.edu 37 6 27861555 27861555 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:27861555G>A uc003nkc.1 + 1 353 c.315G>A c.(313-315)GGG>GGA p.G105G HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank NM_003527 NP_003518 P23527 H2B1O_HUMAN histone cluster 1, H2bo 105 nucleosome assembly nucleosome|nucleus DNA binding 0 TGCTGCCCGGGGAGCTGGCCA 0.642 NaN 0 0 0 0.001984 0 4 114 IER3 8870 broad.mit.edu 37 6 30712140 30712140 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:30712140G>A uc003nrn.2 - 1 188 c.156C>T c.(154-156)CCC>CCT p.P52P FLOT1_uc003nrm.2_5'Flank|FLOT1_uc011dmr.1_5'Flank NM_003897 NP_003888 P46695 IEX1_HUMAN immediate early response 3 52 Cytoplasmic (Potential). anatomical structure morphogenesis|anti-apoptosis|apoptosis integral to membrane protein binding 0 GAGAGGCGCTGGGGCGCCCGG 0.731 NaN 0 0 0 0.004672 0 3 7 PBX2 5089 broad.mit.edu 37 6 32155525 32155525 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:32155525C>T uc003oav.1 - 5 1040 c.769G>A c.(769-771)GAG>AAG p.E257K PBX2_uc003oaw.2_Missense_Mutation_p.E257K NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 257 Homeobox; TALE-type. transcription factor binding ovary(1) 1 TTTAGGACCTCAGTGGCCTGT 0.527 NaN 0 0 0 0.00308 0 7 19 TFAP2B 7021 broad.mit.edu 37 6 50791308 50791308 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:50791308C>T uc003pag.2 + 2 436 c.270C>T c.(268-270)AAC>AAT p.N90N NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 90 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) CCCACGTCAACGACCCCTACT 0.672 NaN 0 0 0 0.012213 0 26 59 HMGCLL1 54511 broad.mit.edu 37 6 55360317 55360317 + Missense_Mutation SNP A A T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:55360317A>T uc003pcn.2 - 8 944 c.785T>A c.(784-786)ATG>AAG p.M262K HMGCLL1_uc003pco.2_Missense_Mutation_p.M232K|HMGCLL1_uc010jzx.2_Missense_Mutation_p.M133K|HMGCLL1_uc011dxc.1_Missense_Mutation_p.M200K|HMGCLL1_uc011dxd.1_Missense_Mutation_p.M129K|HMGCLL1_uc011dxe.1_Intron NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 262 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) ACTTTCCAACATTCTTTTCAT 0.443 NaN 0 0 0 0.007413 0 17 44 GABRR2 2570 broad.mit.edu 37 6 90024839 90024839 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:90024839C>A uc003pnb.2 - 1 129 c.121G>T c.(121-123)GTT>TTT p.V41F NM_002043 NP_002034 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 2 41 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TCCACGAGAACCATCAAGCAA 0.473 NaN 1 0 9.53978e-28 0.01441 1.07501e-27 54 143 MCHR2 84539 broad.mit.edu 37 6 100395738 100395738 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:100395738C>G uc003pqh.1 - 3 607 c.292G>C c.(292-294)GAG>CAG p.E98Q MCHR2_uc003pqi.1_Missense_Mutation_p.E98Q NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 98 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AACACCCACTCTCCCCCTCGG 0.493 NaN 0 0 0 0.009096 0 4 130 TSPYL1 7259 broad.mit.edu 37 6 116600209 116600209 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:116600209C>G uc003pwp.3 - 1 1072 c.785G>C c.(784-786)CGA>CCA p.R262P DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank NM_003309 NP_003300 Q9H0U9 TSYL1_HUMAN TSPY-like 1 262 nucleosome assembly nucleolus 0 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) CAGGTAGTGTCGACGCATCCG 0.567 NaN 0 0 0 0.015359 0 29 110 AKAP7 9465 broad.mit.edu 37 6 131490373 131490373 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:131490373G>A uc003qck.2 + 5 582 c.549G>A c.(547-549)CTG>CTA p.L183L AKAP7_uc011ebz.1_Silent_p.L161L|AKAP7_uc003qcl.1_Silent_p.L64L NM_016377 NP_057461 O43687 AKA7A_HUMAN A-kinase anchor protein 7 isoform gamma Error:Variant_position_missing_in_O43687_after_alignment intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding ovary(2) 2 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) TTGTGAAGCTGGCAGAAGGAG 0.378 NaN 0 0 0 0.007835 0 34 102 TCP10L2 401285 broad.mit.edu 37 6 167590518 167590518 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:167590518C>T uc010kkp.2 + 4 525 c.394C>T c.(394-396)CTG>TTG p.L132L NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 132 0 AATTTCACCTCTGTCAGCTGA 0.418 NaN 0 0 0 0.008871 0 12 43 DNAH11 8701 broad.mit.edu 37 7 21695538 21695538 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:21695538G>C uc003svc.2 + 29 5079 c.5048G>C c.(5047-5049)GGA>GCA p.G1683A NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1683 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AGGGCAGTTGGAATGTACAGC 0.428 NaN Kartagener_syndrome 0 0 0 0.009096 0 4 35 PKD1L1 168507 broad.mit.edu 37 7 47832313 47832313 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:47832313G>C uc003tny.1 - 56 8438 c.8438C>G c.(8437-8439)CCC>CGC p.P2813R C7orf69_uc003tnz.3_5'Flank|C7orf69_uc003toa.1_5'Flank NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2813 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TTCCAGAAGGGGGAGTTGTAG 0.428 NaN 0 0 0 0.008361 0 27 64 SPDYE5 442590 broad.mit.edu 37 7 75130883 75130883 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:75130883G>A uc011kfy.1 + 6 894 c.758G>A c.(757-759)CGT>CAT p.R253H NM_001099435 NP_001092905 A6NIY4 SPDE5_HUMAN speedy homolog E5 253 Arg-rich. 0 CAGTTAGGCCGTTCCATGAAC 0.592 NaN 0 0 0 0.004482 0 6 239 CROT 54677 broad.mit.edu 37 7 87011302 87011302 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:87011302G>C uc003uit.2 + 11 1300 c.1055G>C c.(1054-1056)AGA>ACA p.R352T CROT_uc003uiu.2_Missense_Mutation_p.R380T NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 352 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) AATGAAGGAAGATGGAAGGTA 0.303 NaN 0 0 0 0.009096 0 4 31 CASD1 64921 broad.mit.edu 37 7 94164632 94164632 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:94164632G>A uc003uni.3 + 8 867 c.640G>A c.(640-642)GAA>AAA p.E214K CASD1_uc003unh.2_Intron|CASD1_uc003unj.3_Missense_Mutation_p.E214K NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 214 integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TCCTGTTTATGAAGATCTATT 0.328 NaN 0 0 0 0.004007 0 14 42 TAF6 6878 broad.mit.edu 37 7 99709745 99709745 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:99709745C>T uc003uti.2 - 7 787 c.706G>A c.(706-708)GAG>AAG p.E236K TAF6_uc003utg.2_Missense_Mutation_p.E158K|TAF6_uc003uth.2_Missense_Mutation_p.E293K|TAF6_uc003utk.2_Missense_Mutation_p.E236K|TAF6_uc011kji.1_Missense_Mutation_p.E273K|TAF6_uc003utj.2_Missense_Mutation_p.E226K|TAF6_uc003utl.2_Missense_Mutation_p.E236K|TAF6_uc003utm.2_Missense_Mutation_p.E236K|TAF6_uc003utn.1_RNA NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 236 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTCTTGGCCTCGCAGGAGCCC 0.672 NaN 0 0 0 0.00308 0 7 12 ZNF282 8427 broad.mit.edu 37 7 148895819 148895819 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:148895819C>T uc003wfm.2 + 2 665 c.560C>T c.(559-561)CCG>CTG p.P187L ZNF282_uc011kun.1_Missense_Mutation_p.P187L|ZNF282_uc003wfn.2_Missense_Mutation_p.P127L|ZNF282_uc003wfo.2_Missense_Mutation_p.P127L NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 187 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CGGCTGCCCCCGGGCAGCAAG 0.597 NaN 0 0 0 0.016723 0 10 64 DOCK5 80005 broad.mit.edu 37 8 25174557 25174557 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr8:25174557C>G uc003xeg.2 + 14 1490 c.1353C>G c.(1351-1353)ATC>ATG p.I451M DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.I165M|DOCK5_uc003xei.2_Missense_Mutation_p.I21M NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 451 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TCACCCTGATCCACGGTGAGT 0.478 NaN 0 0 0 0.004672 0 3 53 CER1 9350 broad.mit.edu 37 9 14720234 14720234 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr9:14720234G>A uc003zlj.2 - 2 703 c.658C>T c.(658-660)CCA>TCA p.P220S NM_005454 NP_005445 O95813 CER1_HUMAN cerberus 1 precursor 220 CTCK. BMP signaling pathway extracellular space cytokine activity 0 GBM - Glioblastoma multiforme(50;3.16e-06) CAGTTCAGTGGCAAGTGCATC 0.542 NaN 0 0 0 0.00308 0 5 134 C9orf64 84267 broad.mit.edu 37 9 86571110 86571110 + Silent SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr9:86571110C>A uc004anb.2 - 1 554 c.306G>T c.(304-306)CTG>CTT p.L102L C9orf64_uc004anc.2_5'UTR NM_032307 NP_115683 Q5T6V5 CI064_HUMAN hypothetical protein LOC84267 102 0 CGGCGGCGCACAGGGACCAGT 0.552 NaN 1 0 3.66854e-30 0.007835 4.19659e-30 30 137 IKBKAP 8518 broad.mit.edu 37 9 111663910 111663910 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr9:111663910C>T uc004bdm.3 - 17 2426 c.1906G>A c.(1906-1908)GAG>AAG p.E636K IKBKAP_uc004bdl.2_Missense_Mutation_p.E287K|IKBKAP_uc011lwc.1_Missense_Mutation_p.E522K|IKBKAP_uc010mtq.2_Missense_Mutation_p.E287K NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 636 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 CTTGATACCTCAATGTCATTG 0.433 NaN 0 0 0 0.007413 0 16 51 SHOX 6473 broad.mit.edu 37 X 591697 591697 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:591697G>A uc004cph.1 + 2 756 c.65G>A c.(64-66)GGA>GAA p.G22E SHOX_uc004cpi.2_Missense_Mutation_p.G22E NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 22 Poly-Gly. skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGTAACGGCGGAGGCGGAGGC 0.627 NaN 0 0 0 0.014758 0 5 220 IRS4 8471 broad.mit.edu 37 X 107977994 107977994 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107977994C>A uc004eoc.2 - 1 1614 c.1581G>T c.(1579-1581)CAG>CAT p.Q527H NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 527 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CTCGGGATCCCTGTCCCTCGC 0.632 NaN 1 0 1.10513e-12 0.014323 1.20924e-12 17 133 IRS4 8471 broad.mit.edu 37 X 107977998 107977998 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107977998C>T uc004eoc.2 - 1 1610 c.1577G>A c.(1576-1578)GGA>GAA p.G526E NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 526 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 GGATCCCTGTCCCTCGCCTGA 0.632 NaN 0 0 0 0.012319 0 16 130 IRS4 8471 broad.mit.edu 37 X 107978050 107978050 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107978050C>T uc004eoc.2 - 1 1558 c.1525G>A c.(1525-1527)GGC>AGC p.G509S NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 509 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 GAGCCTTGGCCATTTGAGCCC 0.597 NaN 0 0 0 0.020292 0 10 93 IRS4 8471 broad.mit.edu 37 X 107978105 107978105 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107978105C>G uc004eoc.2 - 1 1503 c.1470G>C c.(1468-1470)ATG>ATC p.M490I NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 490 YXXM motif 1. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CCCAATTGTTCATAGGCATGT 0.562 NaN 0 0 0 0.016723 0 9 82 IRS4 8471 broad.mit.edu 37 X 107978119 107978119 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107978119C>T uc004eoc.2 - 1 1489 c.1456G>A c.(1456-1458)GAC>AAC p.D486N NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 486 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 GGCATGTAGTCACCTCCGCTT 0.577 NaN 0 0 0 0.004482 0 7 78 IRS4 8471 broad.mit.edu 37 X 107978140 107978140 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107978140C>G uc004eoc.2 - 1 1468 c.1435G>C c.(1435-1437)GAT>CAT p.D479H NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 479 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CCTTCCTGATCTTCTTTGCCC 0.577 NaN 0 0 0 0.010729 0 9 64 IRS4 8471 broad.mit.edu 37 X 107978233 107978233 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107978233C>T uc004eoc.2 - 1 1375 c.1342G>A c.(1342-1344)GAA>AAA p.E448K NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 448 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 TTCGGGGCTTCTGCAGGGTGC 0.612 NaN 0 0 0 0.001168 0 6 59 GDI1 2664 broad.mit.edu 37 X 153668396 153668396 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:153668396C>T uc004fli.3 + 5 839 c.497C>T c.(496-498)ACC>ATC p.T166I GDI1_uc011mzo.1_Missense_Mutation_p.T166I|GDI1_uc004flj.2_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 166 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCCAGACTACCAGCATGCGT 0.552 NaN 0 0 0 0.004482 0 6 290 EFCAB4A 283229 broad.mit.edu 37 11 831640 831642 + In_Frame_Del DEL CTG CTG - TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr11:831640_831642delCTG uc001lrv.2 + 9 1509_1511 c.1131_1133delCTG c.(1129-1134)ACCTGC>ACC p.C383del EFCAB4A_uc009ycm.1_3'UTR|EFCAB4A_uc001lrw.2_In_Frame_Del_p.C448del|CD151_uc001lrx.2_5'Flank|CD151_uc001lry.2_5'Flank|CD151_uc001lrz.2_5'Flank|CD151_uc001lsa.2_5'Flank|CD151_uc001lsb.2_5'Flank Q8N4Y2 EFC4A_HUMAN RecName: Full=EF-hand calcium-binding domain-containing protein 4A; 383 Cys-rich. store-operated calcium entry calcium ion binding 0 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGGGCCCACCTGCTGCTGCTGC 0.695 NaN NaN NaN NaN NaN NaN 3 5 --- --- ADAMTS2 9509 broad.mit.edu 37 5 178772259 178772260 + In_Frame_Ins INS - - GCA TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:178772259_178772260insGCA uc003mjw.2 - 1 70_71 c.70_71insTGC c.(70-72)CCG>CTGCCG p.23_24insL ADAMTS2_uc011dgm.1_In_Frame_Ins_p.23_24insL NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 23_24 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) gagcggcggcggcagcagcagc 0.584 NaN NaN NaN NaN NaN NaN 5 4 --- ---