Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut MIIP 60672 broad.mit.edu 37 1 12089847 12089847 + Silent SNP G G T rs138345116 TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:12089847G>T uc001ato.1 + 7 921 c.741G>T c.(739-741)CGG>CGT p.R247R NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN invasion inhibitory protein 45 247 Interaction with IGFBP2. ovary(1) 1 GTGTCAACCGGCGCCTGTTCC 0.697 NA 3 28 6.4e-05 8.97834e-05 0.004672 1 0 PRAMEF12 390999 broad.mit.edu 37 1 12837707 12837707 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:12837707C>A uc001aui.2 + 3 1444 c.1417C>A c.(1417-1419)CTG>ATG p.L473M NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 473 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CAGTCACTGTCTGTTGAATGC 0.507 NA 11 98 0.00010058 0.000136701 0.001368 1 0 PRAMEF13 400736 broad.mit.edu 37 1 13448266 13448266 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:13448266C>A uc010obi.1 - 4 1312 c.1209G>T c.(1207-1209)GGG>GGT p.G403G PRAMEF14_uc009vnt.1_Silent_p.G355G NM_001024661 NP_001019832 Q5VWM6 PRA13_HUMAN PRAME family member 13 403 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTTGCTCAGCCCACTGGTGT 0.557 NA 9 136 1.76689e-08 3.19204e-08 0.006214 1 0 C1orf94 84970 broad.mit.edu 37 1 34663388 34663388 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:34663388C>A uc001bxs.3 + 2 712 c.313C>A c.(313-315)CGA>AGA p.R105R C1orf94_uc001bxt.2_Silent_p.R295R NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 105 protein binding 0 Myeloproliferative disorder(586;0.0393) GCTGCCTCCCCGACCTCCTCC 0.602 NA 4 78 0.000602214 0.000753197 0.000602 1 0 SF3A3 10946 broad.mit.edu 37 1 38435025 38435025 + Splice_Site SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:38435025C>A uc001cci.2 - 14 1405 c.1281_splice c.e14+1 p.A427_splice SF3A3_uc010oik.1_Splice_Site_p.A374_splice NM_006802 NP_006793 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GAATTCCTTACAGCAAAGTGT 0.448 NA 5 59 0.00116845 0.00143281 0.001168 1 0 PPAP2B 8613 broad.mit.edu 37 1 56989949 56989949 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:56989949C>A uc001cyj.1 - 4 1076 c.575G>T c.(574-576)AGG>ATG p.R192M NM_177414 NP_803133 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 192 Lumenal (Potential). canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity 0 GGTGTCTCACCTGGCTTCCTG 0.403 NA 11 116 3.86212e-05 5.52271e-05 0.008291 1 0 LRRC7 57554 broad.mit.edu 37 1 70504491 70504491 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:70504491C>G uc001dep.2 + 19 2900 c.2870C>G c.(2869-2871)ACA>AGA p.T957R LRRC7_uc009wbg.2_Missense_Mutation_p.T241R|LRRC7_uc001deq.2_Missense_Mutation_p.T198R NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 957 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GACATTGGTACATATAAGGTG 0.403 NA 5 87 0 0 0.000602 0 0 GSTM5 2949 broad.mit.edu 37 1 110256125 110256125 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:110256125G>T uc001dyn.2 + 4 268 c.197G>T c.(196-198)GGG>GTG p.G66V GSTM5_uc010ovu.1_Missense_Mutation_p.G25V NM_000851 NP_000842 P46439 GSTM5_HUMAN glutathione S-transferase mu 5 66 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity central_nervous_system(6) 6 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TTGATTGATGGGGCTCACAAG 0.587 NA 7 166 0.00307968 0.00362461 0.00308 1 0 TBX15 6913 broad.mit.edu 37 1 119469162 119469162 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:119469162G>A uc001ehl.1 - 3 489 c.174C>T c.(172-174)GAC>GAT p.D58D NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 164 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) CAGGCACAATGTCCATTGCTA 0.413 NA 5 79 0 0 0.000602 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767862 143767863 + Translation_Start_Site DNP GG GG TT TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:143767862_143767863GG>TT uc001ejt.2 - 1 19_20 c.-14_-13CC>AA c.(-16--11)GCCCTG>GCAATG NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity 0 TGATAGTACAGGGCTCACAGCG 0.337 NA 16 148 0 0 0.004672 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145474697 145474697 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:145474697G>T uc001enq.1 + 4 2662 c.1369G>T c.(1369-1371)GGG>TGG p.G457W NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 457 Pro-rich. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCCTTATGCCGGGGCGCCAGG 0.642 NA 6 37 6.5536e-12 1.29596e-11 0.00308 1 0 SV2A 9900 broad.mit.edu 37 1 149885086 149885086 + Silent SNP G G T rs144624887 TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:149885086G>T uc001etg.2 - 2 798 c.307C>A c.(307-309)CGG>AGG p.R103R SV2A_uc001eth.2_Silent_p.R103R NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 103 Cytoplasmic (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GACTCTGCCCGGGGAATGCCC 0.632 NA 10 163 2.68362e-12 5.35504e-12 0.001368 1 0 PLEKHO1 51177 broad.mit.edu 37 1 150129601 150129601 + Missense_Mutation SNP A A C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:150129601A>C uc001ett.2 + 5 724 c.446A>C c.(445-447)TAT>TCT p.Y149S PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_Intron|PLEKHO1_uc001etu.2_5'UTR NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 149 Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs). cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAGGACAGCTATCTTGCCCAT 0.542 NA 9 86 0 0 0.006214 0 0 GABPB2 126626 broad.mit.edu 37 1 151070440 151070440 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:151070440C>A uc001ewr.2 + 5 915 c.584C>A c.(583-585)GCA>GAA p.A195E GABPB2_uc010pcp.1_Missense_Mutation_p.A211E|GABPB2_uc001ews.2_Missense_Mutation_p.A155E|GABPB2_uc001ewt.2_Missense_Mutation_p.A94E NM_144618 NP_653219 Q8TAK5 GABP2_HUMAN GA repeat binding protein, beta 2 195 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding 0 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) GTTAACCTCGCAAGCCTTATT 0.413 NA 6 41 4.54149e-19 9.7731e-19 0.002299 1 0 FLG 2312 broad.mit.edu 37 1 152278647 152278647 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:152278647C>A uc001ezu.1 - 3 8751 c.8715G>T c.(8713-8715)GAG>GAT p.E2905D NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2905 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGACCACCTCTCAGAGTCTT 0.567 NA Ichthyosis 16 476 9.78306e-22 2.12612e-21 0.001786 1 0 FLG 2312 broad.mit.edu 37 1 152283455 152283455 + Missense_Mutation SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:152283455T>C uc001ezu.1 - 3 3943 c.3907A>G c.(3907-3909)AGA>GGA p.R1303G uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1303 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) gagccatctcttgactgctcc 0.373 NA Ichthyosis 16 340 0 0 0.00499 0 0 CRNN 49860 broad.mit.edu 37 1 152383311 152383311 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:152383311G>C uc001ezx.2 - 3 321 c.247C>G c.(247-249)CAG>GAG p.Q83E NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 83 EF-hand. 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) AAACAGGCCTGGGCAACTTTA 0.567 NA 33 209 0 0 0.002836 0 0 LCE1F 353137 broad.mit.edu 37 1 152748887 152748887 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:152748887C>A uc010pdv.1 + 1 40 c.40C>A c.(40-42)CCC>ACC p.P14T NM_178354 NP_848131 Q5T754 LCE1F_HUMAN late cornified envelope 1F 14 Pro-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGCCccctcccaagtgcac 0.358 NA 5 57 1.26484e-09 2.35283e-09 0.00308 1 0 GATAD2B 57459 broad.mit.edu 37 1 153800615 153800615 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:153800615C>A uc001fdb.3 - 2 453 c.209G>T c.(208-210)AGT>ATT p.S70I NM_020699 NP_065750 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 70 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTTGACACCACTGCCATCCTG 0.473 NA 15 287 4.14922e-12 8.24211e-12 0.004007 1 0 NUP210L 91181 broad.mit.edu 37 1 154112395 154112395 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:154112395G>A uc001fdw.2 - 5 672 c.600C>T c.(598-600)CCC>CCT p.P200P NUP210L_uc010peh.1_Silent_p.P200P NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 200 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TATATATTGGGGGAGCATATT 0.368 NA 27 554 0 0 0.005443 0 0 AQP10 89872 broad.mit.edu 37 1 154296832 154296832 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:154296832A>T uc001feu.2 + 6 822 c.782A>T c.(781-783)CAG>CTG p.Q261L AQP10_uc001fev.2_3'UTR|ATP8B2_uc001few.2_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN aquaporin 10 261 Extracellular (Potential). response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1) 1 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCCACTTACCAGCTGTTGGTG 0.602 NA OREG0013832 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 70 0 0 0.000978 0 0 PEAR1 375033 broad.mit.edu 37 1 156883518 156883518 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:156883518C>A uc001fqj.1 + 21 2795 c.2679C>A c.(2677-2679)AGC>AGA p.S893R PEAR1_uc001fqk.1_Missense_Mutation_p.S518R NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 893 Pro-rich. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACAGCTATAGCTACAGCAATG 0.602 NA 9 49 4.3838e-07 7.28973e-07 0.001855 1 0 FCRL4 83417 broad.mit.edu 37 1 157556006 157556006 + Missense_Mutation SNP T T G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:157556006T>G uc001fqw.2 - 6 1223 c.1087A>C c.(1087-1089)AAC>CAC p.N363H FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 363 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CCGTAGCTGTTGTCTGCTGTA 0.502 NA 17 185 0 0 0.001523 0 0 CD1B 910 broad.mit.edu 37 1 158299700 158299700 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:158299700G>T uc001frx.2 - 3 657 c.549C>A c.(547-549)ACC>ACA p.T183T CD1B_uc001frw.2_Silent_p.T76T NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 183 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) ATCGGGGGCAGGTTTCATAGA 0.473 NA 11 236 6.40141e-05 8.97834e-05 0.000978 1 0 PYHIN1 149628 broad.mit.edu 37 1 158943507 158943507 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:158943507C>A uc001ftb.2 + 8 1675 c.1430C>A c.(1429-1431)CCT>CAT p.P477H PYHIN1_uc001ftc.2_Missense_Mutation_p.P468H|PYHIN1_uc001ftd.2_Intron|PYHIN1_uc001fte.2_Intron NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 477 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) ACTGTGGCCCCTCCTCTTTCT 0.438 NA 9 144 0.00448238 0.00523342 0.004482 1 0 FAM78B 149297 broad.mit.edu 37 1 166039567 166039567 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:166039567C>T uc001gdr.2 - 3 1287 c.697G>A c.(697-699)GCA>ACA p.A233T FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA NM_001017961 NP_001017961 Q5VT40 FA78B_HUMAN hypothetical protein LOC149297 233 central_nervous_system(1)|skin(1) 2 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) TTCACTAGTGCATTAGGGGGG 0.627 NA 5 138 0 0 0.000602 0 0 MPZL1 9019 broad.mit.edu 37 1 167745338 167745338 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:167745338G>T uc001geo.2 + 5 845 c.643G>T c.(643-645)GCT>TCT p.A215S MPZL1_uc001gep.2_Intron|MPZL1_uc001geq.2_Intron|MPZL1_uc009wvh.2_RNA NM_003953 NP_003944 O95297 MPZL1_HUMAN myelin protein zero-like 1 isoform a 215 Cytoplasmic (Potential). cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity ovary(2) 2 all_hematologic(923;0.215) AGTTAAGCAGGCTCCTCGGAA 0.423 NA 5 59 3.59834e-05 5.19628e-05 0.001168 1 0 TBX19 9095 broad.mit.edu 37 1 168262493 168262493 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:168262493G>T uc001gfl.2 + 3 631 c.580G>T c.(580-582)GTG>TTG p.V194L TBX19_uc001gfj.3_Missense_Mutation_p.V125L NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 194 T-box. anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) GTTCATAGCCGTGACTGCCTA 0.378 NA 3 40 6.4e-05 8.97834e-05 0.004672 1 0 HMCN1 83872 broad.mit.edu 37 1 185959439 185959439 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:185959439C>T uc001grq.1 + 22 3470 c.3241C>T c.(3241-3243)CTG>TTG p.L1081L HMCN1_uc001grr.1_Silent_p.L422L NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1081 Ig-like C2-type 8. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TCAACGAGGACTGTCCCAGGA 0.428 NA 78 456 0 0 0.00361 0 0 LAX1 54900 broad.mit.edu 37 1 203743207 203743207 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:203743207G>T uc001haa.2 + 5 1005 c.595G>T c.(595-597)GCA>TCA p.A199S LAX1_uc010pql.1_Missense_Mutation_p.A183S|LAX1_uc001hab.2_Missense_Mutation_p.A123S NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 199 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) TGTCCCCACAGCAGAAGAGAT 0.478 NA 12 119 1.08611e-07 1.85526e-07 0.000978 1 0 C1orf107 27042 broad.mit.edu 37 1 210015678 210015678 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:210015678G>T uc001hhr.1 + 9 1630 c.1554G>T c.(1552-1554)ATG>ATT p.M518I C1orf107_uc009xcu.1_Missense_Mutation_p.M233I NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 518 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) GAGTGCGGATGTGGAGCCTCA 0.448 NA 4 112 0.00024832 0.000326385 0.000248 1 0 SLC30A10 55532 broad.mit.edu 37 1 220100447 220100448 + Splice_Site DNP CC CC AA TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:220100447_220100448CC>AA uc001hlw.2 - 2 852 c.641_splice c.e2-1 p.G214_splice SLC30A10_uc001hlu.1_Splice_Site|SLC30A10_uc001hlx.2_5'UTR NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN solute carrier family 30 (zinc transporter), zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) GAAGGAATCACCTGCATTCAAA 0.337 Colon(76;360 1614 43677 51136) NA 20 123 0 0 0.004672 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232577115 232577115 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:232577115G>A uc001hvg.2 - 12 3722 c.3564C>T c.(3562-3564)TCC>TCT p.S1188S SIPA1L2_uc001hvf.2_Silent_p.S262S NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1188 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCAGGACTTTGGAAGGTGGGC 0.413 NA 25 419 0 0 0.004656 0 0 TARBP1 6894 broad.mit.edu 37 1 234565957 234565957 + Nonsense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:234565957G>A uc001hwd.2 - 15 2485 c.2485C>T c.(2485-2487)CAG>TAG p.Q829* NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 829 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GAGTCCAGCTGCAGCTCAGGC 0.552 NA 23 152 0 0 0.002299 0 0 RYR2 6262 broad.mit.edu 37 1 237947042 237947042 + Silent SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:237947042G>C uc001hyl.1 + 90 12150 c.12030G>C c.(12028-12030)GTG>GTC p.V4010V RYR2_uc010pya.1_Silent_p.V425V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4010 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCAACAACGTGGAGATGATTC 0.368 NA 3 39 0 0 0.004672 0 0 EXO1 9156 broad.mit.edu 37 1 242042514 242042514 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:242042514A>T uc001hzh.2 + 13 2518 c.1978A>T c.(1978-1980)AGT>TGT p.S660C EXO1_uc001hzi.2_Missense_Mutation_p.S660C|EXO1_uc001hzj.2_Missense_Mutation_p.S660C|EXO1_uc009xgq.2_Missense_Mutation_p.S659C NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 660 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CGAGGAGTCCAGTGACGATGA 0.473 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 4 80 0 0 0.000248 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243579109 243579109 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:243579109G>T uc001hzw.2 + 14 1878 c.1722G>T c.(1720-1722)ATG>ATT p.M574I SDCCAG8_uc010pyk.1_Missense_Mutation_p.M429I|SDCCAG8_uc010pyl.1_Missense_Mutation_p.M386I|SDCCAG8_uc001hzx.2_Intron NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 574 Mediates interaction with OFD1.|Gln-rich.|Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TACAGCAAATGGAGGCCCAGC 0.507 NA 7 32 0.00198382 0.00237301 0.001984 1 0 OR1C1 26188 broad.mit.edu 37 1 247921475 247921475 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:247921475G>T uc010pza.1 - 1 234 c.234C>A c.(232-234)GTC>GTA p.V78V NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 78 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CCATTTGGGGGACTGTAGTCG 0.453 NA 8 52 5.18039e-06 8.15123e-06 0.00308 1 0 OR2L8 391190 broad.mit.edu 37 1 248112412 248112412 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:248112412C>G uc001idt.1 + 1 253 c.253C>G c.(253-255)CTG>GTG p.L85V OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATCTGATTTTCTGCATGGAAA 0.453 NA 73 520 0 0 0.00361 0 0 OR2L13 284521 broad.mit.edu 37 1 248263130 248263130 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:248263130G>T uc001ids.2 + 3 790 c.453G>T c.(451-453)GGG>GGT p.G151G NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GGACACTGGGGTCCATCAACT 0.488 NA 55 363 1.67886e-27 3.70361e-27 0.00361 1 0 OR2T6 254879 broad.mit.edu 37 1 248551546 248551546 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:248551546G>T uc001iei.1 + 1 637 c.637G>T c.(637-639)GTG>TTG p.V213L NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCCTTCTCGGTGGTGACTGC 0.532 NA 14 102 1.3612e-06 2.22144e-06 0.003163 1 0 C10orf18 54906 broad.mit.edu 37 10 5782212 5782212 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:5782212G>A uc001iij.2 + 13 2704 c.2079G>A c.(2077-2079)GGG>GGA p.G693G C10orf18_uc001iik.2_Intron NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 693 ovary(1)|central_nervous_system(1) 2 CCCCAGTGGGGAAAGTCATGC 0.532 NA 5 168 0 0 0.000602 0 0 PTF1A 256297 broad.mit.edu 37 10 23481584 23481584 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:23481584T>A uc001irp.2 + 1 125 c.125T>A c.(124-126)CTG>CAG p.L42Q NM_178161 NP_835455 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 42 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex pancreas(1)|skin(1) 2 GGCGATGAGCTGCTGGCGGAC 0.602 NA 4 39 0 0 0.000248 0 0 ABI1 10006 broad.mit.edu 37 10 27048010 27048010 + Silent SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:27048010T>A uc001isx.2 - 9 1226 c.1059A>T c.(1057-1059)CCA>CCT p.P353P ABI1_uc001ite.2_Silent_p.P320P|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Silent_p.P326P|ABI1_uc001ita.2_Silent_p.P326P|ABI1_uc001isz.2_Silent_p.P321P|ABI1_uc001itb.2_Silent_p.P370P|ABI1_uc001itc.2_Silent_p.P325P|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Silent_p.P325P|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Silent_p.P192P NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a 353 Pro-rich. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 GAGAATAAAGTGGACCTCCAT 0.418 NA 5 126 0 0 0.001168 0 0 RBP3 5949 broad.mit.edu 37 10 48389044 48389044 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:48389044C>G uc001jez.2 - 1 1948 c.1834G>C c.(1834-1836)GTG>CTG p.V612L NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 612 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GCATCGGGCACCACTCCACCA 0.672 NA 4 52 0 0 0.000602 0 0 GDF2 2658 broad.mit.edu 37 10 48414372 48414372 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:48414372G>A uc001jfa.1 - 2 659 c.496C>T c.(496-498)CTG>TTG p.L166L NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 166 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 CTTCCTTTCAGGTCATGAGAG 0.502 NA 3 67 0 0 0.004672 0 0 PCDH15 65217 broad.mit.edu 37 10 55996679 55996679 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:55996679G>T uc001jju.1 - 9 1284 c.889C>A c.(889-891)CCC>ACC p.P297T PCDH15_uc010qhq.1_Missense_Mutation_p.P302T|PCDH15_uc010qhr.1_Missense_Mutation_p.P297T|PCDH15_uc010qhs.1_Missense_Mutation_p.P302T|PCDH15_uc010qht.1_Missense_Mutation_p.P297T|PCDH15_uc010qhu.1_Missense_Mutation_p.P297T|PCDH15_uc001jjv.1_Missense_Mutation_p.P275T|PCDH15_uc010qhv.1_Missense_Mutation_p.P297T|PCDH15_uc010qhw.1_Missense_Mutation_p.P260T|PCDH15_uc010qhx.1_Missense_Mutation_p.P297T|PCDH15_uc010qhy.1_Missense_Mutation_p.P302T|PCDH15_uc010qhz.1_Missense_Mutation_p.P297T|PCDH15_uc010qia.1_Missense_Mutation_p.P275T|PCDH15_uc010qib.1_Missense_Mutation_p.P275T|PCDH15_uc001jjw.2_Missense_Mutation_p.P297T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 297 Cadherin 3.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACAATAATGGGGTTCAGTTCT 0.398 NA HNSCC(58;0.16) 16 200 0.000422831 0.000542757 0.004007 1 0 RHOBTB1 9886 broad.mit.edu 37 10 62632019 62632019 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:62632019C>A uc001jli.2 - 11 2283 c.1845G>T c.(1843-1845)TGG>TGT p.W615C RHOBTB1_uc001jlh.2_Missense_Mutation_p.W615C|RHOBTB1_uc001jlj.2_Missense_Mutation_p.W615C|RHOBTB1_uc001jlk.2_Missense_Mutation_p.W615C|RHOBTB1_uc009xpe.1_Missense_Mutation_p.W553C|RHOBTB1_uc009xpd.2_Intron|RHOBTB1_uc001jll.2_Missense_Mutation_p.W365C NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 615 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) GGTGCAAACACCAGGCGGCCA 0.473 NA 9 104 0.00448238 0.00523342 0.004482 1 0 DNAJC12 56521 broad.mit.edu 37 10 69565369 69565369 + Silent SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:69565369T>C uc001jnb.2 - 4 642 c.474A>G c.(472-474)TCA>TCG p.S158S NM_021800 NP_068572 Q9UKB3 DJC12_HUMAN J domain containing protein 1 isoform a 158 protein folding heat shock protein binding|unfolded protein binding breast(1) 1 GCGGGGAGACTGACTTCTCTA 0.393 NA 49 594 0 0 0.00361 0 0 SGPL1 8879 broad.mit.edu 37 10 72614534 72614534 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:72614534G>C uc001jrm.2 + 5 553 c.331G>C c.(331-333)GAG>CAG p.E111Q NM_003901 NP_003892 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 111 Cytoplasmic (Potential). apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity 0 Pyridoxal Phosphate(DB00114) AGTGGACAAAGAGTATGTGAA 0.408 Colon(151;1054 2458 6676 40971) NA 22 305 0 0 0.00278 0 0 PIPSL 266971 broad.mit.edu 37 10 95720745 95720745 + Nonsense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:95720745C>A uc009xuj.2 - 1 928 c.409G>T c.(409-411)GAG>TAG p.E137* NR_002319 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 ACAATGAACTCATCGTCGCTG 0.493 NA 8 58 0.000274275 0.000355182 0.004482 1 0 NOC3L 64318 broad.mit.edu 37 10 96099536 96099536 + Nonsense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:96099536G>T uc001kjq.1 - 17 2010 c.1922C>A c.(1921-1923)TCA>TAA p.S641* NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 641 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) GCCAATACTTGAATTTGGAAG 0.368 NA 5 84 1.23904e-05 1.87565e-05 0.000602 1 0 ANKRD2 26287 broad.mit.edu 37 10 99341096 99341096 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:99341096G>T uc001knw.2 + 6 869 c.660G>T c.(658-660)TGG>TGT p.W220C ANKRD2_uc009xvu.2_Missense_Mutation_p.W220C NM_020349 NP_065082 Q9GZV1 ANKR2_HUMAN ankyrin repeat domain 2 isoform a 220 ANK 3. muscle contraction|muscle organ development structural constituent of muscle 0 all_hematologic(284;1.95e-06)|Colorectal(252;0.0163) Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241) CCATGCATTGGGCCTGCCGCG 0.527 NA 4 65 0.00024832 0.000326385 0.000248 1 0 HPSE2 60495 broad.mit.edu 37 10 100995383 100995383 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:100995383G>A uc001kpn.1 - 1 237 c.177C>T c.(175-177)ACC>ACT p.T59T HPSE2_uc009xwc.1_Silent_p.T49T|HPSE2_uc001kpo.1_Silent_p.T49T|HPSE2_uc009xwd.1_Silent_p.T49T NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 59 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GTAGAATCAGGGTCTTTTCCT 0.522 NA 22 274 0 0 0.001882 0 0 SEC31B 25956 broad.mit.edu 37 10 102249904 102249904 + Silent SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:102249904C>G uc001krc.1 - 21 2928 c.2826G>C c.(2824-2826)CTG>CTC p.L942L SEC31B_uc010qpo.1_Silent_p.L941L|SEC31B_uc001krd.1_Silent_p.L479L|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 942 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CTAGTGGTCTCAGAGGAAGCA 0.622 NA 4 87 0 0 0.000248 0 0 ABLIM1 3983 broad.mit.edu 37 10 116203832 116203832 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:116203832C>A uc010qsg.1 - 17 1988 c.1889G>T c.(1888-1890)AGG>ATG p.R630M ABLIM1_uc010qsh.1_Missense_Mutation_p.R598M|ABLIM1_uc010qsi.1_Missense_Mutation_p.R570M|ABLIM1_uc010qsk.1_Missense_Mutation_p.R507M|ABLIM1_uc009xyp.2_Missense_Mutation_p.R594M|ABLIM1_uc010qsf.1_Missense_Mutation_p.R307M|ABLIM1_uc009xyn.2_Missense_Mutation_p.R246M|ABLIM1_uc010qsj.1_Missense_Mutation_p.R225M|ABLIM1_uc009xyo.2_Missense_Mutation_p.R443M NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 630 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CAGAGATGACCTTTCCCGGCT 0.438 NA 11 214 1.08611e-07 1.85526e-07 0.000978 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118355742 118355742 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:118355742C>A uc001lco.1 + 6 500 c.482C>A c.(481-483)CCC>CAC p.P161H PNLIPRP1_uc001lcp.2_Missense_Mutation_p.P161H|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 161 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) TATAGCTACCCCCCTTCCAAA 0.413 NA 15 317 2.31682e-05 3.44775e-05 0.003163 1 0 PDZD8 118987 broad.mit.edu 37 10 119043973 119043973 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:119043973C>A uc001lde.1 - 5 2470 c.2271G>T c.(2269-2271)CTG>CTT p.L757L NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 757 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) AGGGGGCTTCCAGTCTCAATT 0.423 NA 18 75 3.52763e-06 5.59072e-06 0.00499 1 0 BUB3 9184 broad.mit.edu 37 10 124922239 124922239 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:124922239C>G uc001lhe.2 + 7 1108 c.866C>G c.(865-867)ACT>AGT p.T289S BUB3_uc001lhf.3_Missense_Mutation_p.T289S|BUB3_uc001lhd.2_Missense_Mutation_p.T289S|BUB3_uc010qud.1_Missense_Mutation_p.T209S NM_004725 NP_004716 O43684 BUB3_HUMAN budding uninhibited by benzimidazoles 3 isoform 289 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle condensed chromosome kinetochore|cytosol|nucleus protein binding ovary(1) 1 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) AATGATGGGACTACGCTTGCA 0.423 GBM(161;1111 1985 17553 20049 26037) NA 6 174 0 0 0.001984 0 0 FAM175B 23172 broad.mit.edu 37 10 126523082 126523082 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:126523082G>T uc001lib.3 + 9 835 c.790G>T c.(790-792)GCA>TCA p.A264S NM_032182 NP_115558 Q15018 F175B_HUMAN hypothetical protein LOC23172 264 Potential. BRISC complex polyubiquitin binding 0 ATTGCAGCAGGCAGTGTTAAG 0.473 NA 14 49 9.31168e-06 1.44958e-05 0.001855 1 0 MKI67 4288 broad.mit.edu 37 10 129905645 129905645 + Nonsense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:129905645C>A uc001lke.2 - 13 4654 c.4459G>T c.(4459-4461)GAG>TAG p.E1487* MKI67_uc001lkf.2_Nonsense_Mutation_p.E1127*|MKI67_uc009yav.1_Nonsense_Mutation_p.E1062*|MKI67_uc009yaw.1_Nonsense_Mutation_p.E637* NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1487 5.|16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GTAGTTTTCTCGTGAGTCGTG 0.512 NA 93 377 1.82171e-49 4.03905e-49 0.00361 1 0 STK32C 282974 broad.mit.edu 37 10 134059441 134059441 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:134059441T>A uc001lle.1 - 2 421 c.281A>T c.(280-282)CAG>CTG p.Q94L STK32C_uc001lld.1_5'UTR|STK32C_uc010quu.1_Missense_Mutation_p.Q107L|STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_5'UTR|STK32C_uc001llc.1_RNA NM_173575 NP_775846 Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 94 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|breast(1) 5 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) CCGAAGGATCTGGAAGTGGTC 0.637 NA 14 42 0 0 0.004007 0 0 NAP1L4 4676 broad.mit.edu 37 11 2979700 2979700 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:2979700C>A uc001lxc.2 - 10 962 c.821G>T c.(820-822)CGA>CTA p.R274L NAP1L4_uc009ydt.2_RNA|NAP1L4_uc010qxm.1_Missense_Mutation_p.R274L|NAP1L4_uc010qxn.1_Missense_Mutation_p.R274L NM_005969 NP_005960 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 274 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding ovary(1) 1 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) AACAGTGCCTCGACCCTTATG 0.388 NA 6 71 0.00198382 0.00237301 0.001984 1 0 OR51F2 119694 broad.mit.edu 37 11 4842727 4842727 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:4842727C>A uc010qyn.1 + 1 112 c.112C>A c.(112-114)CAG>AAG p.Q38K NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 38 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GAAAGCCACCCAGTACTGGAT 0.493 NA 30 428 9.39395e-14 1.93612e-13 0.00632 1 0 OR51L1 119682 broad.mit.edu 37 11 5020793 5020793 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:5020793C>A uc010qyu.1 + 1 581 c.581C>A c.(580-582)GCC>GAC p.A194D NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTACAGATGCCAGGACCAAC 0.428 NA 9 159 4.68919e-08 8.26729e-08 0.008291 1 0 OR51L1 119682 broad.mit.edu 37 11 5020889 5020889 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:5020889C>A uc010qyu.1 + 1 677 c.677C>A c.(676-678)ACT>AAT p.T226N NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTCTTAATACTGTGCTGGAT 0.418 NA 14 113 1.05317e-09 1.97582e-09 0.00245 1 0 CNGA4 1262 broad.mit.edu 37 11 6261622 6261622 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:6261622G>T uc001mco.2 + 4 705 c.598G>T c.(598-600)GCA>TCA p.A200S CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.A160S NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 200 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGGGCGTGACGCATGGGTGTA 0.557 NA 12 157 0.00010058 0.000136701 0.001368 1 0 OLFML1 283298 broad.mit.edu 37 11 7530738 7530738 + Nonsense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:7530738C>A uc001mfi.2 + 3 880 c.528C>A c.(526-528)TAC>TAA p.Y176* OLFML1_uc010raz.1_Nonsense_Mutation_p.Y40*|OLFML1_uc010rba.1_Nonsense_Mutation_p.Y176* NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 precursor 176 Olfactomedin-like. extracellular region ovary(2) 2 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CAAAGGTGTACTTATTAATTG 0.418 NA 5 179 1.23904e-05 1.87565e-05 0.000602 1 0 LDHA 3939 broad.mit.edu 37 11 18424404 18424404 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:18424404G>T uc001mok.3 + 5 708 c.436G>T c.(436-438)GTG>TTG p.V146L LDHA_uc010rdc.1_Missense_Mutation_p.V88L|LDHA_uc009yhn.2_Missense_Mutation_p.V146L|LDHA_uc009yho.2_5'UTR|LDHA_uc001mol.3_Missense_Mutation_p.V146L|LDHA_uc010rdd.1_Missense_Mutation_p.V175L NM_005566 NP_005557 P00338 LDHA_HUMAN lactate dehydrogenase A isoform 1 146 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3) 3 NADH(DB00157) CTTGACCTACGTGGCTTGGAA 0.413 NA 6 135 0.000157383 0.000210004 0.00308 1 0 NELL1 4745 broad.mit.edu 37 11 20982101 20982101 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:20982101G>T uc001mqe.2 + 12 1448 c.1295G>T c.(1294-1296)TGT>TTT p.C432F NELL1_uc001mqf.2_Missense_Mutation_p.C432F|NELL1_uc009yid.2_Missense_Mutation_p.C460F|NELL1_uc010rdo.1_Missense_Mutation_p.C375F|NELL1_uc010rdp.1_Missense_Mutation_p.C192F NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 432 EGF-like 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TCTGCCTACTGTGAAGGTAAG 0.418 NA 5 162 3.59834e-05 5.19628e-05 0.001168 1 0 NELL1 4745 broad.mit.edu 37 11 21594836 21594836 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:21594836C>A uc001mqe.2 + 19 2416 c.2263C>A c.(2263-2265)CTA>ATA p.L755I NELL1_uc001mqf.2_Missense_Mutation_p.L708I|NELL1_uc009yid.2_Missense_Mutation_p.L783I|NELL1_uc010rdo.1_Missense_Mutation_p.L698I|NELL1_uc010rdp.1_Missense_Mutation_p.L468I|NELL1_uc001mqh.2_Missense_Mutation_p.L300I NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 755 VWFC 5. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TGACCCCTGCCTAGCTGATAA 0.512 NA 17 176 2.94398e-08 5.27514e-08 0.007413 1 0 CHST1 8534 broad.mit.edu 37 11 45671882 45671882 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:45671882G>T uc001mys.1 - 4 1263 c.592C>A c.(592-594)CGC>AGC p.R198S NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 198 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CTGCGCTCGCGGCACGCCTCG 0.682 NA 4 18 1.024e-07 1.78387e-07 0.000602 1 0 LOC440040 440040 broad.mit.edu 37 11 49805625 49805625 + Splice_Site SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:49805625G>T uc010rhy.1 + 3 1299 c.821_splice c.e3+1 p.R274_splice LOC440040_uc009ymb.2_Splice_Site_p.R274_splice NR_027044 SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5; 0 TTCTGGGCAGGTGAGTGATGA 0.478 NA 12 105 9.31168e-06 1.44958e-05 0.001855 1 0 OR5L1 219437 broad.mit.edu 37 11 55579402 55579402 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:55579402G>T uc001nhw.1 + 1 460 c.460G>T c.(460-462)GTG>TTG p.V154L NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) CTGTGGGACGGTGTGTTCTCT 0.458 NA 26 205 7.38237e-10 1.40297e-09 0.00632 1 0 OR5L1 219437 broad.mit.edu 37 11 55579854 55579854 + Silent SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:55579854G>C uc001nhw.1 + 1 912 c.912G>C c.(910-912)GTG>GTC p.V304V NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TCAGAAAAGTGATGGGCTCCA 0.468 NA 3 54 0 0 0.000248 0 0 OR5D18 219438 broad.mit.edu 37 11 55587432 55587432 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:55587432G>A uc010rin.1 + 1 327 c.327G>A c.(325-327)GTG>GTA p.V109V NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) GTACCTTTGTGGTCACTGAAT 0.433 NA 13 344 0 0 0.001855 0 0 SPRYD5 84767 broad.mit.edu 37 11 55659052 55659052 + Missense_Mutation SNP C C A rs148245438 byFrequency TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:55659052C>A uc010rip.1 + 7 1395 c.1303C>A c.(1303-1305)CCC>ACC p.P435T SPRYD5_uc010riq.1_Missense_Mutation_p.P292T NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 435 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) ATACACCATCCCCAATTGCTC 0.458 NA 15 230 0.000422831 0.000542757 0.004007 1 0 OR8H3 390152 broad.mit.edu 37 11 55890175 55890175 + Silent SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:55890175T>C uc001nii.1 + 1 327 c.327T>C c.(325-327)ACT>ACC p.T109T NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TCTTGGGTACTGCTGAATGTT 0.463 NA 23 566 0 0 0.00278 0 0 DLG2 1740 broad.mit.edu 37 11 84245668 84245668 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:84245668G>A uc001paj.2 - 2 452 c.149C>T c.(148-150)TCT>TTT p.S50F DLG2_uc010rsz.1_Missense_Mutation_p.S50F|DLG2_uc010rta.1_Missense_Mutation_p.S50F|DLG2_uc001pak.2_Missense_Mutation_p.S155F|DLG2_uc001pal.1_Missense_Mutation_p.S50F NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 50 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTCTATTTGAGAGAGGTTCTT 0.423 NA 21 202 0 0 0.002299 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111636081 111636081 + Missense_Mutation SNP A A G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:111636081A>G uc001plx.1 - 2 226 c.142T>C c.(142-144)TCA>CCA p.S48P PPP2R1B_uc001plw.1_Missense_Mutation_p.S48P|PPP2R1B_uc010rwi.1_Intron|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.S48P|PPP2R1B_uc010rwl.1_Missense_Mutation_p.S48P NM_002716 NP_002707 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein 48 HEAT 1. protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) GCAATTGTTGATAACTTCTTA 0.368 NA 12 142 0 0 0.000978 0 0 DSCAML1 57453 broad.mit.edu 37 11 117302317 117302317 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:117302317C>A uc001prh.1 - 31 5489 c.5487G>T c.(5485-5487)GTG>GTT p.V1829V NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1769 Cytoplasmic (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCTGGGAGCCCACGGTGCGCC 0.647 NA 9 90 0.00136819 0.00167308 0.001368 1 0 ABCG4 64137 broad.mit.edu 37 11 119027327 119027327 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:119027327G>T uc001pvs.2 + 8 1200 c.864G>T c.(862-864)CTG>CTT p.L288L ABCG4_uc009zar.2_Silent_p.L288L NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 288 Cytoplasmic (Potential).|ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TCACCAACCTGATCCCCTATC 0.577 NA 19 123 1.50039e-11 2.9405e-11 0.001882 1 0 FAM118B 79607 broad.mit.edu 37 11 126110730 126110730 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:126110730G>T uc001qdf.2 + 4 313 c.130G>T c.(130-132)GTG>TTG p.V44L FAM118B_uc009zca.2_Missense_Mutation_p.V48L|FAM118B_uc001qdg.2_Missense_Mutation_p.V44L NM_024556 NP_078832 Q9BPY3 F118B_HUMAN hypothetical protein LOC79607 44 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) TCGAGAACTTGTGCTAGTGAT 0.453 NA 38 355 1.47244e-24 3.23202e-24 0.00623 1 0 OPCML 4978 broad.mit.edu 37 11 132306643 132306643 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr11:132306643G>A uc001qgs.2 - 5 745 c.695C>T c.(694-696)ACT>ATT p.T232I OPCML_uc001qgu.2_Missense_Mutation_p.T225I|OPCML_uc010sck.1_Missense_Mutation_p.T232I|OPCML_uc001qgt.2_Missense_Mutation_p.T231I|OPCML_uc010scl.1_Missense_Mutation_p.T191I NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 232 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TGAAACACCAGTGTTCTTGGC 0.378 NA 4 64 0 0 0.000602 0 0 CLEC6A 93978 broad.mit.edu 37 12 8610547 8610547 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:8610547G>C uc001qum.1 + 2 202 c.85G>C c.(85-87)GCA>CCA p.A29P NM_001007033 NP_001007034 Q6EIG7 CLC6A_HUMAN dectin-2 29 Helical; Signal-anchor for type II membrane protein; (Potential). defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1) 1 Lung SC(5;0.184) GATTTCCATTGCACTCCTCAG 0.483 NA 9 64 0 0 0.004482 0 0 CLEC1B 51266 broad.mit.edu 37 12 10149523 10149523 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:10149523G>T uc001qwu.2 - 4 560 c.360C>A c.(358-360)AAC>AAA p.N120K CLEC1B_uc009zhd.2_Missense_Mutation_p.N87K NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 120 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 CCCATGTTAAGTTGTGCCTGA 0.433 NA 29 214 9.39395e-14 1.93612e-13 0.00632 1 0 RERGL 79785 broad.mit.edu 37 12 18237551 18237551 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:18237551C>A uc001rdq.2 - 5 429 c.235G>T c.(235-237)GGG>TGG p.G79W RERGL_uc001rdr.2_Missense_Mutation_p.G78W NM_024730 NP_079006 Q9H628 RERGL_HUMAN RERG/RAS-like 79 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity 0 ATAACAAACCCATCTGCCCAG 0.403 NA 16 155 0.00074312 0.000918957 0.006122 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 26 1.23904e-05 1.87565e-05 0.000602 1 0 CAPRIN2 65981 broad.mit.edu 37 12 30879010 30879010 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:30879010C>A uc001rji.1 - 9 2546 c.1795G>T c.(1795-1797)GTG>TTG p.V599L CAPRIN2_uc001rjf.1_Missense_Mutation_p.V396L|CAPRIN2_uc001rjg.1_Missense_Mutation_p.V266L|CAPRIN2_uc001rjh.1_Missense_Mutation_p.V599L|CAPRIN2_uc001rjj.1_Missense_Mutation_p.V266L|CAPRIN2_uc001rjk.3_Missense_Mutation_p.V599L|CAPRIN2_uc001rjl.3_Missense_Mutation_p.V599L|CAPRIN2_uc001rjm.1_Missense_Mutation_p.V266L NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 599 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GGCTGATGCACAGGCTTAGGC 0.403 NA 9 81 0.000274275 0.000355182 0.004482 1 0 BICD1 636 broad.mit.edu 37 12 32447000 32447000 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:32447000C>A uc001rku.2 + 3 580 c.499C>A c.(499-501)CGG>AGG p.R167R BICD1_uc001rkv.2_Silent_p.R167R|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 167 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) CCGGGAGGCACGGCTCCTTCA 0.398 NA 7 58 0.000157383 0.000210004 0.00308 1 0 OR6C4 341418 broad.mit.edu 37 12 55945335 55945335 + Nonsense_Mutation SNP G G T rs78982301 byFrequency TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:55945335G>T uc010spp.1 + 1 325 c.325G>T c.(325-327)GAG>TAG p.E109* NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGGAGCTACCGAGTTTTACCT 0.423 NA 10 147 0.00621372 0.0072356 0.006214 1 0 E2F7 144455 broad.mit.edu 37 12 77449706 77449706 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:77449706C>A uc001sym.3 - 3 534 c.298G>T c.(298-300)GAC>TAC p.D100Y E2F7_uc001syn.2_Missense_Mutation_p.D100Y NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 100 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 TTCTCCCGGTCCCTTATATCT 0.463 NA 14 204 3.27435e-08 5.84326e-08 0.00245 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85450741 85450741 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:85450741A>T uc001tac.2 + 8 2281 c.2170A>T c.(2170-2172)AGC>TGC p.S724C LRRIQ1_uc001tab.1_Missense_Mutation_p.S724C|LRRIQ1_uc001taa.1_Missense_Mutation_p.S699C NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 724 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TGAACCTGATAGCATGACCTG 0.353 NA 23 579 0 0 0.00333 0 0 PLXNC1 10154 broad.mit.edu 37 12 94641809 94641809 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:94641809A>T uc001tdc.2 + 13 2768 c.2519A>T c.(2518-2520)TAT>TTT p.Y840F NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 840 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 ACCCTGCAGTATCGGGAGGAC 0.483 NA 5 110 0 0 0.000602 0 0 C12orf63 374467 broad.mit.edu 37 12 97114182 97114182 + Splice_Site SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:97114182G>T uc001tet.1 + 17 2158 c.2080_splice c.e17-1 p.S694_splice NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 skin(6)|ovary(1) 7 CCTTTCCTTAGTCGATGTTAC 0.423 NA 6 70 4.68919e-08 8.26729e-08 0.008291 1 0 ANKS1B 56899 broad.mit.edu 37 12 99223026 99223026 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:99223026C>G uc001tge.1 - 19 3409 c.2992G>C c.(2992-2994)GAT>CAT p.D998H ANKS1B_uc001tgf.1_Intron|ANKS1B_uc001tgk.2_Missense_Mutation_p.D295H|ANKS1B_uc010svd.1_Missense_Mutation_p.D4H|ANKS1B_uc001tgd.1_Intron|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_Missense_Mutation_p.D4H|ANKS1B_uc001tgh.3_Missense_Mutation_p.D4H|ANKS1B_uc001tgi.2_Missense_Mutation_p.D224H|ANKS1B_uc009ztr.2_Intron|ANKS1B_uc001tgj.2_Intron|ANKS1B_uc009ztp.2_Missense_Mutation_p.D4H|ANKS1B_uc010svf.1_Missense_Mutation_p.D4H|ANKS1B_uc001tgg.3_Intron|ANKS1B_uc010svg.1_Intron|ANKS1B_uc009zts.1_Missense_Mutation_p.D224H NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 998 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CTCCTTGCATCGCCCTGCATG 0.463 NA 15 249 0 0 0.00245 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705565 41705565 + Silent SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr13:41705565T>A uc001uxu.1 - 1 1372 c.1083A>T c.(1081-1083)CCA>CCT p.P361P KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.P295P|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 361 protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCCCCGAGTATGGATCACAGC 0.507 NA 9 143 0 0 0.008291 0 0 TBC1D4 9882 broad.mit.edu 37 13 75936627 75936627 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr13:75936627C>A uc001vjl.1 - 2 962 c.615G>T c.(613-615)CTG>CTT p.L205L TBC1D4_uc010aer.2_Silent_p.L205L|TBC1D4_uc010aes.2_Silent_p.L205L NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 205 PID 1. cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) TTCCACAGTACAGGACTTCGA 0.507 NA 35 294 9.04072e-19 1.92664e-18 0.003271 1 0 RNF219 79596 broad.mit.edu 37 13 79190730 79190730 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr13:79190730G>C uc001vkw.1 - 6 1225 c.1166C>G c.(1165-1167)CCT>CGT p.P389R uc001vku.1_RNA|RNF219_uc010afb.1_Missense_Mutation_p.P199R|RNF219_uc010afc.2_Intron NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 389 zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) AGGAGTACAAGGAGCTGGAAG 0.423 NA 17 166 0 0 0.004007 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215964 20215964 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr14:20215964C>A uc010tkt.1 + 1 378 c.378C>A c.(376-378)GCC>GCA p.A126A NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGTATGTTGCCATCTGTAACC 0.493 NA 6 122 3.59834e-05 5.19628e-05 0.001168 1 0 OR4N5 390437 broad.mit.edu 37 14 20612538 20612538 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr14:20612538T>A uc010tla.1 + 1 644 c.644T>A c.(643-645)CTG>CAG p.L215Q NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 215 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CTGGGCCTTCTGGCCTCCTAT 0.512 NA 25 137 0 0 0.00333 0 0 Unknown 0 broad.mit.edu 37 14 28734072 28734072 + Nonsense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr14:28734072G>T uc001wqd.2 + 1 453 c.313G>T c.(313-315)GAA>TAA p.E105* SubName: Full=cDNA FLJ60537, highly similar to BCL2/adenovirus E1B 19 kDa protein-interacting protein 3; NA GAGAAGGAAGGAAGTTGAAAG 0.438 NA 10 106 9.70103e-10 1.83567e-09 0.008291 1 0 NID2 22795 broad.mit.edu 37 14 52508829 52508829 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr14:52508829G>A uc001wzo.2 - 7 2053 c.1819C>T c.(1819-1821)CTC>TTC p.L607F NID2_uc010tqs.1_Missense_Mutation_p.L607F|NID2_uc010tqt.1_Missense_Mutation_p.L607F|NID2_uc001wzp.2_Missense_Mutation_p.L607F NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 607 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TCACCTGCGAGGCTGAAGCCG 0.577 NA 4 120 0 0 0.000602 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412404 105412404 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr14:105412404G>T uc010axc.1 - 7 9504 c.9384C>A c.(9382-9384)GAC>GAA p.D3128E AHNAK2_uc001ypx.2_Missense_Mutation_p.D3028E NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3128 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCAGGGACAGGTCCCCCTCCA 0.627 NA 17 224 2.21704e-12 4.44419e-12 0.00278 1 0 AHNAK2 113146 broad.mit.edu 37 14 105420209 105420209 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr14:105420209G>T uc010axc.1 - 7 1699 c.1579C>A c.(1579-1581)CTG>ATG p.L527M AHNAK2_uc001ypx.2_Missense_Mutation_p.L427M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 527 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCACCCTTCAGGCCAGTACCC 0.557 NA 6 127 0.00198382 0.00237301 0.001984 1 0 MKRN3 7681 broad.mit.edu 37 15 23811793 23811793 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr15:23811793C>T uc001ywh.3 + 1 1340 c.864C>T c.(862-864)GCC>GCT p.A288A MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A288A NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 288 Makorin-type Cys-His. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) ATATGAGGGCCTGCATTGAAG 0.527 NA 7 58 0 0 0.001984 0 0 TJP1 7082 broad.mit.edu 37 15 30024963 30024963 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr15:30024963C>A uc001zcr.2 - 14 2268 c.1793G>T c.(1792-1794)CGT>CTT p.R598L TJP1_uc010azl.2_Missense_Mutation_p.R586L|TJP1_uc001zcq.2_Missense_Mutation_p.R602L|TJP1_uc001zcs.2_Missense_Mutation_p.R598L NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 598 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GAAGTCAGCACGGTCTCCGCC 0.443 Melanoma(77;681 1843 6309 6570) NA 5 56 0.000602214 0.000753197 0.000602 1 0 TRPM1 4308 broad.mit.edu 37 15 31294304 31294304 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr15:31294304G>T uc001zfm.2 - 27 4661 c.4533C>A c.(4531-4533)GTC>GTA p.V1511V TRPM1_uc010azy.2_Silent_p.V1418V|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1511 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTGCTTCAGCGACATGGTGTT 0.458 NA 29 412 1.74807e-11 3.41068e-11 0.002096 1 0 RYR3 6263 broad.mit.edu 37 15 33926871 33926871 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr15:33926871C>A uc001zhi.2 + 25 3182 c.3112C>A c.(3112-3114)CGG>AGG p.R1038R RYR3_uc010bar.2_Silent_p.R1038R NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1038 2.|B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGACAGCCTGCGGGAAGCTGT 0.468 NA 7 106 0.00198382 0.00237301 0.001984 1 0 AQR 9716 broad.mit.edu 37 15 35198869 35198869 + Missense_Mutation SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr15:35198869T>C uc001ziv.2 - 18 1889 c.1708A>G c.(1708-1710)ACA>GCA p.T570A NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 570 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TAAGGTTTTGTGGGACGTACG 0.388 NA 4 116 0 0 0.000248 0 0 CHD2 1106 broad.mit.edu 37 15 93496623 93496623 + Silent SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr15:93496623A>T uc002bsp.2 + 14 2114 c.1539A>T c.(1537-1539)CTA>CTT p.L513L CHD2_uc002bso.1_Silent_p.L513L NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 513 ATP (Potential).|Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAATGGGCCTAGGAAAGACCA 0.398 NA 7 121 0 0 0.00308 0 0 CHSY1 22856 broad.mit.edu 37 15 101717776 101717776 + Silent SNP T T G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr15:101717776T>G uc002bwt.1 - 4 2709 c.2226A>C c.(2224-2226)GTA>GTC p.V742V CHSY1_uc010usd.1_Silent_p.V470V NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 742 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGACGTGGACTACTCCTACTT 0.512 NA 5 97 0 0 0.001168 0 0 TSC2 7249 broad.mit.edu 37 16 2122317 2122317 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr16:2122317A>T uc002con.2 + 20 2279 c.2173A>T c.(2173-2175)ACT>TCT p.T725S TSC2_uc010bsd.2_Missense_Mutation_p.T725S|TSC2_uc002coo.2_Missense_Mutation_p.T725S|TSC2_uc010uvv.1_Missense_Mutation_p.T688S|TSC2_uc010uvw.1_Missense_Mutation_p.T676S|TSC2_uc002cop.2_Missense_Mutation_p.T525S NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 725 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) GCTCATCTTTACTTCCCCTTG 0.602 NA D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 5 144 0 0 0.000602 0 0 GRIN2A 2903 broad.mit.edu 37 16 9943738 9943738 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr16:9943738C>A uc002czo.3 - 5 1751 c.1203G>T c.(1201-1203)CCG>CCT p.P401P GRIN2A_uc010uym.1_Silent_p.P401P|GRIN2A_uc010uyn.1_Silent_p.P244P|GRIN2A_uc002czr.3_Silent_p.P401P NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 401 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTTGTCATCCGGCTCACAGT 0.587 NA 6 123 3.59834e-05 5.19628e-05 0.001168 1 0 ACSM5 54988 broad.mit.edu 37 16 20439113 20439113 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr16:20439113C>T uc002dhe.2 + 7 1072 c.925C>T c.(925-927)CTC>TTC p.L309F NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 309 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 TGTTTAGACTCTCTCCAAATT 0.473 NA 22 310 0 0 0.00333 0 0 GTF3C1 2975 broad.mit.edu 37 16 27492447 27492447 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr16:27492447C>T uc002dov.1 - 27 4189 c.4149G>A c.(4147-4149)AGG>AGA p.R1383R GTF3C1_uc002dou.2_Silent_p.R1383R NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1383 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GGTTAGAATTCCTTAGGGCTG 0.463 NA 7 124 0 0 0.00308 0 0 CDH11 1009 broad.mit.edu 37 16 65005896 65005896 + Missense_Mutation SNP A A C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr16:65005896A>C uc002eoi.2 - 10 1896 c.1462T>G c.(1462-1464)TTT>GTT p.F488V CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.F488V|CDH11_uc010vin.1_Missense_Mutation_p.F362V NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 488 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GGGGCAGCAAACTTGGGAGCA 0.483 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 3 53 0 0 0.004672 0 0 ZNF23 7571 broad.mit.edu 37 16 71482488 71482488 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr16:71482488C>A uc002faf.2 - 6 2254 c.1440G>T c.(1438-1440)GAG>GAT p.E480D ZNF23_uc002fad.2_Missense_Mutation_p.E422D|ZNF23_uc002fae.2_Missense_Mutation_p.E422D|ZNF23_uc010vmf.1_Missense_Mutation_p.E422D|ZNF23_uc002fag.2_Missense_Mutation_p.E422D|ZNF23_uc002fah.2_Missense_Mutation_p.E480D|ZNF23_uc002fai.2_Missense_Mutation_p.E519D NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 480 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) ATCTCCCACACTCATTACATT 0.423 NA 8 108 0.00307968 0.00362461 0.00308 1 0 TCF25 22980 broad.mit.edu 37 16 89967042 89967042 + Splice_Site SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr16:89967042G>T uc002fpb.2 + 12 1304 c.1222_splice c.e12-1 p.A408_splice TCF25_uc002fpc.2_Splice_Site_p.A173_splice NM_014972 NP_055787 Q9BQ70 TCF25_HUMAN NULP1 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) GTCCCTCGTAGGCTCATCGGA 0.527 NA 7 100 0.00198382 0.00237301 0.001984 1 0 PRPF8 10594 broad.mit.edu 37 17 1579293 1579293 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr17:1579293C>A uc002fte.2 - 18 2722 c.2608G>T c.(2608-2610)GCC>TCC p.A870S NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 870 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TTATCGTAGGCCTGCTCGATC 0.532 NA 7 58 8.12818e-05 0.000111161 0.001984 1 0 TRPV2 51393 broad.mit.edu 37 17 16326965 16326965 + Missense_Mutation SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr17:16326965T>C uc002gpy.2 + 5 1175 c.808T>C c.(808-810)TAT>CAT p.Y270H TRPV2_uc002gpz.2_Intron NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, 270 Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 5. sensory perception integral to plasma membrane|melanosome calcium channel activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GACCAGCATGTATGATGGGCT 0.602 NA 7 67 0 0 0.001984 0 0 CCT6B 10693 broad.mit.edu 37 17 33288403 33288403 + Missense_Mutation SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr17:33288403T>C uc002hig.2 - 1 104 c.10A>G c.(10-12)ATA>GTA p.I4V CCT6B_uc010ctg.2_Missense_Mutation_p.I4V|CCT6B_uc010wcc.1_Missense_Mutation_p.I4V|ZNF830_uc002hih.3_5'Flank NM_006584 NP_006575 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B 4 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding pancreas(1) 1 Ovarian(249;0.17) ACGGCCTTTATCGCAGCCATA 0.577 NA 10 47 0 0 0.001368 0 0 WIPF2 147179 broad.mit.edu 37 17 38416822 38416822 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr17:38416822G>T uc002hug.1 + 3 339 c.99G>T c.(97-99)GAG>GAT p.E33D WIPF2_uc010cwv.1_Missense_Mutation_p.E33D|WIPF2_uc002huh.1_5'UTR|WIPF2_uc010cww.1_5'UTR|WIPF2_uc002hui.1_Missense_Mutation_p.E33D|WIPF2_uc010cwx.1_Missense_Mutation_p.E33D|WIPF2_uc010cwy.1_Missense_Mutation_p.E33D NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN WIRE protein 33 cytoplasm|cytoskeleton actin binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 GTAGAGATGAGCAGCGGGGTC 0.458 NA HNSCC(43;0.11) 6 105 1.12685e-05 1.74186e-05 0.004482 1 0 CRHR1 1394 broad.mit.edu 37 17 43906655 43906655 + Silent SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr17:43906655C>G uc010dap.2 + 5 667 c.402C>G c.(400-402)CTC>CTG p.L134L CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Silent_p.L33L|CRHR1_uc002ijm.2_Silent_p.L134L|CRHR1_uc002ijn.2_Silent_p.L94L|CRHR1_uc010dar.2_Silent_p.L134L|CRHR1_uc010dao.2_Silent_p.L33L|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 134 Helical; Name=1; (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) TGGTGGCCCTCCTGGTGGCCT 0.577 Ovarian(110;57 1568 10207 38216 49865) NA 3 60 0 0 0.004672 0 0 KIAA1267 284058 broad.mit.edu 37 17 44249162 44249162 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr17:44249162C>A uc002ikb.2 - 1 433 c.348G>T c.(346-348)CAG>CAT p.Q116H KIAA1267_uc002ikc.2_Missense_Mutation_p.Q116H|KIAA1267_uc002ikd.2_Missense_Mutation_p.Q116H|KIAA1267_uc010dav.2_Missense_Mutation_p.Q116H NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 116 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) GTTCATAGGACTGAGATAAGA 0.458 NA 17 410 0.000566183 0.000720448 0.00499 1 0 KPNB1 3837 broad.mit.edu 37 17 45752095 45752095 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr17:45752095G>C uc002ilt.1 + 15 2195 c.1859G>C c.(1858-1860)GGG>GCG p.G620A KPNB1_uc010wkw.1_Missense_Mutation_p.G475A|KPNB1_uc010wkx.1_Missense_Mutation_p.G404A NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 620 HEAT 7. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AGCACAGCTGGGTCTGGGGGA 0.483 NA 12 180 0 0 0.000978 0 0 COIL 8161 broad.mit.edu 37 17 55038337 55038337 + Missense_Mutation SNP T T G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr17:55038337T>G uc002iuu.2 - 1 75 c.44A>C c.(43-45)TAC>TCC p.Y15S NM_004645 NP_004636 P38432 COIL_HUMAN coilin 15 Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) TGGCGGCGGGTAATCAAATTG 0.587 NA OREG0024594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 9 0 0 0.00499 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128403 68128403 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr17:68128403G>T uc002jin.2 + 5 661 c.175G>T c.(175-177)GTT>TTT p.V59F KCNJ16_uc002jio.2_Missense_Mutation_p.V59F|KCNJ16_uc002jip.2_Missense_Mutation_p.V59F|KCNJ16_uc002jiq.2_Missense_Mutation_p.V91F NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 59 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) AAGCTATGTGGTTGACATCTT 0.403 NA 11 209 0.000673444 0.000835147 0.008291 1 0 TYMS 7298 broad.mit.edu 37 18 662311 662311 + Missense_Mutation SNP A A G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr18:662311A>G uc010dka.1 + 3 584 c.445A>G c.(445-447)ATG>GTG p.M149V TYMS_uc010dkb.1_Missense_Mutation_p.M149V|TYMS_uc010dkc.1_Intron NM_001071 NP_001062 P04818 TYSY_HUMAN thymidylate synthase 149 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity 0 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) ATACAGAGATATGGAATCAGG 0.498 NA 20 376 0 0 0.007413 0 0 EPB41L3 23136 broad.mit.edu 37 18 5428374 5428374 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr18:5428374G>T uc002kmt.1 - 9 1089 c.1003C>A c.(1003-1005)CCC>ACC p.P335T EPB41L3_uc010wzh.1_Missense_Mutation_p.P335T|EPB41L3_uc002kmu.1_Missense_Mutation_p.P335T|EPB41L3_uc010dkq.1_Missense_Mutation_p.P226T|EPB41L3_uc010dks.1_Missense_Mutation_p.P357T NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 335 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 AGAACCTTGGGCCAGGCAAAT 0.443 NA 11 208 3.07112e-06 4.88486e-06 0.000978 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14851650 14851650 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr18:14851650A>T uc010dlo.2 + 36 3530 c.3350A>T c.(3349-3351)AAG>ATG p.K1117M ANKRD30B_uc010xal.1_Missense_Mutation_p.K259M NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1202 Potential. ovary(1)|skin(1) 2 GAGGACATTAAGATTTTACAA 0.348 NA 4 50 0 0 0.000602 0 0 DSC1 1823 broad.mit.edu 37 18 28737519 28737519 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr18:28737519G>T uc002kwn.2 - 3 428 c.166C>A c.(166-168)CTC>ATC p.L56I DSC1_uc002kwm.2_Missense_Mutation_p.L56I NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 56 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GCCGACTTGAGACACTCCTCC 0.448 NA 9 88 2.17888e-05 3.2646e-05 0.006214 1 0 PIGN 23556 broad.mit.edu 37 18 59777144 59777144 + Silent SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr18:59777144C>G uc002lii.3 - 18 1945 c.1497G>C c.(1495-1497)CTG>CTC p.L499L PIGN_uc002lij.3_Silent_p.L499L NM_176787 NP_789744 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, 499 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Colorectal(73;0.187) CTTGAATCAGCAGAAAAAATG 0.393 NA 9 126 0 0 0.004482 0 0 SERPINB13 5275 broad.mit.edu 37 18 61264592 61264592 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr18:61264592C>A uc002ljc.2 + 8 1339 c.1171C>A c.(1171-1173)CCT>ACT p.P391T SERPINB13_uc002ljd.2_Missense_Mutation_p.P255T|SERPINB13_uc010xep.1_Missense_Mutation_p.P400T|SERPINB13_uc010xeq.1_Missense_Mutation_p.P212T|SERPINB13_uc010xer.1_Missense_Mutation_p.P212T NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 391 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 ATTTTCTTCTCCTTAAGATGA 0.403 NA 7 134 1.76689e-08 3.19204e-08 0.006214 1 0 SERPINB4 6318 broad.mit.edu 37 18 61306540 61306540 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr18:61306540T>A uc002ljf.2 - 7 733 c.647A>T c.(646-648)TAC>TTC p.Y216F SERPINB4_uc002lje.2_Intron|SERPINB4_uc002ljg.2_Intron NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 216 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 AAAGGAATTGTATTGCCTCAT 0.363 NA 4 82 0 0 0.000248 0 0 POLRMT 5442 broad.mit.edu 37 19 625204 625204 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:625204G>A uc002lpf.1 - 4 929 c.873C>T c.(871-873)GGC>GGT p.G291G NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 291 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGAGTCAAGCCGGCATCCT 0.627 NA 4 92 0 0 0.000248 0 0 MUC16 94025 broad.mit.edu 37 19 9058299 9058299 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:9058299G>A uc002mkp.2 - 3 29351 c.29147C>T c.(29146-29148)ACG>ATG p.T9716M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9718 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCGAGGGCTCGTCCATGACAG 0.468 NA 6 47 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9073838 9073838 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:9073838G>C uc002mkp.2 - 3 13812 c.13608C>G c.(13606-13608)AAC>AAG p.N4536K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4538 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 TCACTGCTTTGTTTATGGAAG 0.453 NA 5 72 0 0 0.000602 0 0 OR7G2 390882 broad.mit.edu 37 19 9213200 9213200 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:9213200G>T uc010xkk.1 - 1 783 c.783C>A c.(781-783)ACC>ACA p.T261T NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GAGACCCACAGGTGGAAACTG 0.478 Esophageal Squamous(67;143 1448 28637 40648) NA 6 109 0.00116845 0.00143281 0.001168 1 0 CD97 976 broad.mit.edu 37 19 14512216 14512216 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:14512216G>A uc002myl.2 + 10 1039 c.916G>A c.(916-918)GAT>AAT p.D306N CD97_uc002mym.2_Missense_Mutation_p.D257N|CD97_uc002myn.2_Missense_Mutation_p.D213N NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 306 Extracellular (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 CAAATTGGTGGATGAACTGAT 0.567 NA 4 31 0 0 0.000248 0 0 ZNF99 7652 broad.mit.edu 37 19 22940448 22940448 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:22940448G>C uc010xrh.1 - 5 1990 c.1990C>G c.(1990-1992)CAT>GAT p.H664D NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTGCAGTATGAATTACCTTA 0.353 NA 10 108 0 0 0.000978 0 0 ATP1A3 478 broad.mit.edu 37 19 42490070 42490070 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:42490070C>T uc002osg.2 - 6 706 c.552G>A c.(550-552)AAG>AAA p.K184K ATP1A3_uc010xwf.1_Silent_p.K195K|ATP1A3_uc010xwg.1_Silent_p.K154K|ATP1A3_uc010xwh.1_Silent_p.K197K|ATP1A3_uc002osh.2_Silent_p.K184K NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 184 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 GGTCTCCACCCTTGATCTCCA 0.572 NA 8 115 0 0 0.00308 0 0 PSG6 5675 broad.mit.edu 37 19 43414968 43414968 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:43414968G>T uc002ovj.1 - 3 522 c.470C>A c.(469-471)CCC>CAC p.P157H PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.P164H|PSG6_uc002ovi.2_Missense_Mutation_p.P158H|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.P157H|PSG6_uc002ovg.1_Missense_Mutation_p.P157H NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 157 Ig-like C2-type 1. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) GACCTCCCTGGGGTTTAAGTT 0.537 NA 15 220 4.7546e-09 8.69696e-09 0.004007 1 0 PSG7 5676 broad.mit.edu 37 19 43430641 43430641 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:43430641G>T uc002ovl.3 - 5 1039 c.937C>A c.(937-939)CGG>AGG p.R313R PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Silent_p.R191R NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 313 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) TATCGGTCCCGTATTTCACAT 0.522 NA 12 205 7.03913e-09 1.28223e-08 0.001368 1 0 AP2S1 1175 broad.mit.edu 37 19 47342740 47342740 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:47342740G>A uc002pft.1 - 3 429 c.249C>T c.(247-249)GCC>GCT p.A83A AP2S1_uc002pfu.1_Intron NM_004069 NP_004060 P53680 AP2S1_HUMAN adaptor-related protein complex 2, sigma 1 83 A -> G (in Ref. 1; CAA65782 and 2; CAA09018). axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol protein transporter activity 0 all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128) OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336) AGTTGTGAATGGCCTCCAGGT 0.582 NA 6 202 0 0 0.00308 0 0 ZNF765 91661 broad.mit.edu 37 19 53911926 53911926 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:53911926A>T uc010ydx.1 + 6 1445 c.1118A>T c.(1117-1119)CAT>CTT p.H373L ZNF765_uc002qbm.2_Missense_Mutation_p.H373L|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 373 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) TTTACATGCCATCATAGAGTT 0.408 NA 7 185 0 0 0.001984 0 0 NLRP12 91662 broad.mit.edu 37 19 54299180 54299180 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:54299180C>T uc002qch.3 - 9 3251 c.3031G>A c.(3031-3033)GGG>AGG p.G1011R NLRP12_uc010eqw.2_Missense_Mutation_p.G237R|NLRP12_uc002qci.3_Missense_Mutation_p.G954R|NLRP12_uc002qcj.3_Missense_Mutation_p.G1012R|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 1011 LRR 7. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CCTGTGTCCCCTAGGGCGTTG 0.557 NA 4 40 0 0 0.001984 0 0 LILRB2 10288 broad.mit.edu 37 19 54783926 54783926 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:54783926G>T uc002qfb.2 - 4 341 c.75C>A c.(73-75)ACC>ACA p.T25T LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.T25T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.T25T|LILRB2_uc010yet.1_Intron|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 25 Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCTTGGGAATGGTCCCTGGAA 0.582 NA 11 182 4.68919e-08 8.26729e-08 0.008291 1 0 NLRP8 126205 broad.mit.edu 37 19 56485017 56485017 + Splice_Site SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr19:56485017G>C uc002qmh.2 + 7 2606 c.2535_splice c.e7-1 p.S845_splice NLRP8_uc010etg.2_Intron NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTCTCCCATAGGATAGAGAAC 0.517 NA 12 509 0 0 0.00245 0 0 SNTG2 54221 broad.mit.edu 37 2 1251123 1251123 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:1251123G>C uc002qwq.2 + 12 1041 c.913G>C c.(913-915)GAG>CAG p.E305Q SNTG2_uc010ewi.2_Missense_Mutation_p.E178Q NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 305 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GTGGGTAAATGAGAAACTCCA 0.498 NA 6 61 0 0 0.001168 0 0 APOB 338 broad.mit.edu 37 2 21229397 21229397 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:21229397G>T uc002red.2 - 26 10471 c.10343C>A c.(10342-10344)ACC>AAC p.T3448N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3448 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTTGACTTGGTATTTCCATT 0.378 NA 22 302 4.54149e-19 9.7731e-19 0.002299 1 0 APOB 338 broad.mit.edu 37 2 21233785 21233785 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:21233785G>A uc002red.2 - 26 6083 c.5955C>T c.(5953-5955)ACC>ACT p.T1985T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1985 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGTTAAATTGGGTCTTGAGTT 0.463 NA 10 141 0 0 0.006214 0 0 STRN 6801 broad.mit.edu 37 2 37076763 37076763 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:37076763C>T uc002rpn.2 - 18 2188 c.2179G>A c.(2179-2181)GAC>AAC p.D727N STRN_uc010ezx.2_Missense_Mutation_p.D690N NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 727 WD 5. dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) ATTGAACAGTCATGACCTATA 0.308 NA 5 88 0 0 0.001168 0 0 EML4 27436 broad.mit.edu 37 2 42515415 42515415 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:42515415C>G uc002rsi.2 + 11 1433 c.1171C>G c.(1171-1173)CTT>GTT p.L391V EML4_uc010fap.2_Missense_Mutation_p.L333V|EML4_uc002rsj.2_Missense_Mutation_p.L80V NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 391 WD 2. microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 TGAGCATATGCTTACTGTATG 0.338 NA T ALK NSCLC 5 131 0 0 0.001168 0 0 PSME4 23198 broad.mit.edu 37 2 54159167 54159167 + Missense_Mutation SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:54159167T>C uc002rxp.2 - 10 1177 c.1121A>G c.(1120-1122)AAG>AGG p.K374R PSME4_uc010yop.1_Missense_Mutation_p.K260R|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 374 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGAGGGCTTCTTGTATCTTTC 0.418 NA 16 127 0 0 0.004007 0 0 ACYP2 98 broad.mit.edu 37 2 54365795 54365795 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:54365795G>C uc002rxq.3 + 3 521 c.95G>C c.(94-96)AGG>ACG p.R32T NM_138448 NP_612457 P14621 ACYP2_HUMAN acylphosphatase 2 32 Acylphosphatase-like. phosphate metabolic process acylphosphatase activity 0 GATGAAGCTAGGAAAATAGGA 0.408 NA 6 59 0 0 0.001168 0 0 SPTBN1 6711 broad.mit.edu 37 2 54839363 54839363 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:54839363C>T uc002rxu.2 + 4 615 c.366C>T c.(364-366)TTC>TTT p.F122F SPTBN1_uc002rxv.1_Silent_p.F122F|SPTBN1_uc002rxx.2_Silent_p.F109F NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 122 CH 1.|Actin-binding. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) CCCTTCAGTTCCTGAAGGAGC 0.537 NA 7 141 0 0 0.001984 0 0 USP34 9736 broad.mit.edu 37 2 61484357 61484357 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:61484357T>A uc002sbe.2 - 45 5995 c.5973A>T c.(5971-5973)GAA>GAT p.E1991D USP34_uc002sbf.2_Missense_Mutation_p.E141D NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 1991 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) GAGACATTTCTTCGATTTTGG 0.338 NA 14 129 0 0 0.003163 0 0 USP34 9736 broad.mit.edu 37 2 61566728 61566728 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:61566728C>G uc002sbe.2 - 17 2611 c.2589G>C c.(2587-2589)TTG>TTC p.L863F NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 863 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CTATATCCCACAACAAAGTAT 0.303 NA 5 71 0 0 0.000602 0 0 ANTXR1 84168 broad.mit.edu 37 2 69304562 69304562 + Missense_Mutation SNP A A C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:69304562A>C uc002sfg.2 + 8 940 c.584A>C c.(583-585)AAG>ACG p.K195T ANTXR1_uc002sfe.2_Missense_Mutation_p.K195T|ANTXR1_uc002sff.2_Missense_Mutation_p.K195T|ANTXR1_uc002sfd.2_Missense_Mutation_p.K195T NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 195 Extracellular (Potential).|VWFA. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 GCGGACAGTAAGGATCATGTG 0.498 NA Familial_Infantile_Hemangioma 12 171 0 0 0.001855 0 0 DYSF 8291 broad.mit.edu 37 2 71795382 71795382 + Silent SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:71795382G>C uc002sie.2 + 26 3100 c.2724G>C c.(2722-2724)ACG>ACC p.T908T DYSF_uc010feg.2_Silent_p.T939T|DYSF_uc010feh.2_Silent_p.T894T|DYSF_uc002sig.3_Silent_p.T894T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.T908T|DYSF_uc010fef.2_Silent_p.T925T|DYSF_uc010fei.2_Silent_p.T925T|DYSF_uc010fek.2_Silent_p.T926T|DYSF_uc010fej.2_Silent_p.T895T|DYSF_uc010fel.2_Silent_p.T895T|DYSF_uc010feo.2_Silent_p.T940T|DYSF_uc010fem.2_Silent_p.T909T|DYSF_uc010fen.2_Silent_p.T926T|DYSF_uc002sif.2_Silent_p.T909T NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 908 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CTGACGTCACGGGCAAGATCA 0.592 NA 23 412 0 0 0.003954 0 0 DCTN1 1639 broad.mit.edu 37 2 74593020 74593020 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:74593020C>T uc002skx.2 - 24 3197 c.2886G>A c.(2884-2886)AAG>AAA p.K962K SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Silent_p.K828K|DCTN1_uc002sku.2_Silent_p.K828K|DCTN1_uc002skw.1_Silent_p.K938K|DCTN1_uc010ffd.2_Silent_p.K942K|DCTN1_uc002sky.2_Silent_p.K925K NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 962 Potential. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 CTACCCTCACCTTAATCTTGA 0.512 NA 14 207 0 0 0.003163 0 0 MRPL35 51318 broad.mit.edu 37 2 86433312 86433312 + Missense_Mutation SNP A A C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:86433312A>C uc002srg.3 + 2 185 c.127A>C c.(127-129)ACT>CCT p.T43P MRPL35_uc002srf.3_Missense_Mutation_p.T43P NM_016622 NP_057706 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 isoform a 43 translation mitochondrial ribosome structural constituent of ribosome 0 TGCATTGTCCACTGGACGTTT 0.458 NA 24 259 0 0 0.007291 0 0 RGPD4 285190 broad.mit.edu 37 2 108488728 108488728 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:108488728C>G uc010ywk.1 + 20 4350 c.4268C>G c.(4267-4269)ACA>AGA p.T1423R RGPD4_uc002tdu.2_Missense_Mutation_p.T610R|RGPD4_uc010ywl.1_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1423 RanBD1 2. intracellular transport binding skin(2) 2 ATGAAAGGGACAGAAAGAGTA 0.388 NA 55 462 0 0 0.00361 0 0 RANBP2 5903 broad.mit.edu 37 2 109371430 109371430 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:109371430G>A uc002tem.3 + 16 2398 c.2272G>A c.(2272-2274)GAA>AAA p.E758K NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 758 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 AGACTATAGTGAAGGAGGTCC 0.378 NA 23 375 0 0 0.00632 0 0 BUB1 699 broad.mit.edu 37 2 111398671 111398671 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:111398671C>A uc002tgc.2 - 23 3007 c.2895G>T c.(2893-2895)AAG>AAT p.K965N BUB1_uc010yxh.1_Missense_Mutation_p.K945N|BUB1_uc010fkb.2_Missense_Mutation_p.K908N NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 965 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ATGTTTCACACTTTGCTGTGA 0.383 NA 19 170 1.56452e-12 3.1651e-12 0.007413 1 0 DPP10 57628 broad.mit.edu 37 2 116525883 116525883 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:116525883C>A uc002tla.1 + 13 1581 c.1124C>A c.(1123-1125)CCC>CAC p.P375H DPP10_uc002tlb.1_Missense_Mutation_p.P325H|DPP10_uc002tlc.1_Missense_Mutation_p.P371H|DPP10_uc002tle.2_Missense_Mutation_p.P379H|DPP10_uc002tlf.1_Missense_Mutation_p.P368H NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 375 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 AATGAGGAGCCCGTGTTTTCT 0.448 NA 10 74 0.000673444 0.000835147 0.008291 1 0 GLI2 2736 broad.mit.edu 37 2 121743871 121743871 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:121743871C>T uc010flp.2 + 12 2004 c.1974C>T c.(1972-1974)CCC>CCT p.P658P GLI2_uc002tmq.1_Silent_p.P330P|GLI2_uc002tmr.1_Silent_p.P313P|GLI2_uc002tmt.3_Silent_p.P330P|GLI2_uc002tmu.3_Silent_p.P313P|GLI2_uc002tmw.1_Silent_p.P641P NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 658 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) AGTCCAGCCCCGGGGCCCAGT 0.667 NA 4 29 0 0 0.000602 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542273 133542273 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:133542273C>A uc002ttp.2 - 14 2485 c.2111G>T c.(2110-2112)GGA>GTA p.G704V NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 704 protein binding 0 TGCCTTGGGTCCAGCAGGAGT 0.453 NA 11 190 5.16669e-11 9.99196e-11 0.000978 1 0 LRP1B 53353 broad.mit.edu 37 2 141135856 141135856 + Splice_Site SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:141135856C>G uc002tvj.1 - 68 11504 c.10532_splice c.e68-1 p.K3511_splice NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTCTGTGGCTCTGGGGATAAA 0.368 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 6 38 0 0 0.001168 0 0 CYTIP 9595 broad.mit.edu 37 2 158272583 158272583 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:158272583C>A uc002tzj.1 - 8 758 c.686G>T c.(685-687)GGG>GTG p.G229V CYTIP_uc010zcl.1_Missense_Mutation_p.G123V NM_004288 NP_004279 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 229 regulation of cell adhesion cell cortex|early endosome protein binding ovary(1)|kidney(1)|skin(1) 3 TGGGCCTGGCCCAGGCAGGGG 0.517 NA 5 89 3.59834e-05 5.19628e-05 0.001168 1 0 XIRP2 129446 broad.mit.edu 37 2 168102024 168102024 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:168102024C>A uc002udx.2 + 8 4140 c.4122C>A c.(4120-4122)GTC>GTA p.V1374V XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.V1199V|XIRP2_uc010fpq.2_Silent_p.V1152V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1199 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTAAATCTGTCACACAAGAAG 0.358 NA 9 112 0.000274275 0.000355182 0.004482 1 0 ZNF804A 91752 broad.mit.edu 37 2 185803228 185803228 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:185803228G>T uc002uph.2 + 4 3699 c.3105G>T c.(3103-3105)TTG>TTT p.L1035F NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1035 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AAGCATTATTGATCCCACTAG 0.413 NA 9 147 6.40141e-05 8.97834e-05 0.000978 1 0 COL5A2 1290 broad.mit.edu 37 2 189904125 189904125 + Silent SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:189904125T>A uc002uqk.2 - 51 4073 c.3798A>T c.(3796-3798)CCA>CCT p.P1266P COL5A2_uc010frx.2_Silent_p.P842P NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1266 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CATGAACCCCTGGGTCCGTTT 0.512 NA 4 54 0 0 0.000248 0 0 CD28 940 broad.mit.edu 37 2 204591409 204591409 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:204591409G>T uc002vah.3 + 2 328 c.106G>T c.(106-108)GTC>TTC p.V36F CD28_uc002vag.1_RNA|CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Intron|CD28_uc002vaj.3_RNA NM_006139 NP_006130 P10747 CD28_HUMAN CD28 antigen precursor 36 Extracellular (Potential).|Ig-like V-type. cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity 0 CGACAATGCGGTCAACCTTAG 0.433 NA 11 139 1.08611e-07 1.85526e-07 0.000978 1 0 GPR1 2825 broad.mit.edu 37 2 207041255 207041255 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:207041255C>A uc002vbl.3 - 3 1103 c.717G>T c.(715-717)CTG>CTT p.L239L GPR1_uc010fue.2_Silent_p.L239L|GPR1_uc010fuf.2_Silent_p.L239L NM_005279 NP_005270 P46091 GPR1_HUMAN G protein-coupled receptor 1 239 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) TACTGGAGATCAGGATGCTTC 0.438 NA 7 77 0.00307968 0.00362461 0.00308 1 0 DYTN 391475 broad.mit.edu 37 2 207564941 207564941 + Splice_Site SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:207564941C>A uc002vbr.1 - 6 601 c.484_splice c.e6-1 p.I162_splice NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) AAGTTGGGATCTGCAAGAGAC 0.552 NA 7 90 2.0095e-06 3.24327e-06 0.001984 1 0 MARCH4 57574 broad.mit.edu 37 2 217124066 217124066 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:217124066C>T uc002vgb.2 - 4 2969 c.1202G>A c.(1201-1203)CGA>CAA p.R401Q NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 401 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GACCAGCTCTCGGCTGCTGCC 0.612 NA 5 99 0 0 0.000602 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695055 219695055 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:219695055G>A uc002vjb.1 - 4 298 c.279C>T c.(277-279)TTC>TTT p.F93F PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Silent_p.F93F|PRKAG3_uc010zko.1_Silent_p.F89F NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 93 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding ovary(1)|lung(1) 2 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGTCTTGGGGAATGTGGCCT 0.632 NA 5 42 0 0 0.00308 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882479 228882479 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:228882479C>A uc002vpq.2 - 7 3138 c.3091G>T c.(3091-3093)GTC>TTC p.V1031F SPHKAP_uc002vpp.2_Missense_Mutation_p.V1031F|SPHKAP_uc010zlx.1_Missense_Mutation_p.V1031F NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1031 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GAATCTGGGACATCTTCAAGG 0.507 NA 13 187 1.05317e-09 1.97582e-09 0.00245 1 0 SAG 6295 broad.mit.edu 37 2 234227423 234227423 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:234227423C>A uc002vuh.2 + 4 551 c.163C>A c.(163-165)CTT>ATT p.L55I SAG_uc002vug.2_RNA|SAG_uc010zmq.1_5'UTR NM_000541 NP_000532 P10523 ARRS_HUMAN S-arrestin 55 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity ovary(1) 1 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TGATCCTGATCTTGTGAAGGG 0.512 NA 14 158 2.31682e-05 3.44775e-05 0.003163 1 0 DNAJB3 414061 broad.mit.edu 37 2 234652384 234652384 + Missense_Mutation SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:234652384T>C uc002vuz.2 - 1 278 c.179A>G c.(178-180)AAG>AGG p.K60R UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron NM_001001394 NP_001001394 Q8WWF6 DNJB3_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 3 60 J. protein folding heat shock protein binding|unfolded protein binding 0 ATCGCGTTTCTTGGCGTCCGA 0.622 NA 11 167 0 0 0.001368 0 0 HDAC4 9759 broad.mit.edu 37 2 239976512 239976512 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:239976512T>A uc002vyk.3 - 25 3798 c.3006A>T c.(3004-3006)GAA>GAT p.E1002D HDAC4_uc010fyy.2_Missense_Mutation_p.E959D NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 1002 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GTAAAACCTTTTCTGGGAGAG 0.473 NA 12 130 0 0 0.001855 0 0 KIF16B 55614 broad.mit.edu 37 20 16355030 16355030 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr20:16355030C>A uc002wpg.1 - 20 3380 c.3222G>T c.(3220-3222)CTG>CTT p.L1074L KIF16B_uc002wpe.1_Silent_p.L456L|KIF16B_uc002wpf.1_Silent_p.L456L|KIF16B_uc010gch.1_Intron|KIF16B_uc010gci.1_Silent_p.L1074L NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 1074 Potential. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TCTTCTGTTTCAGCTGCTGGA 0.323 NA 8 149 0.00448238 0.00523342 0.004482 1 0 EMILIN3 90187 broad.mit.edu 37 20 39992319 39992319 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr20:39992319G>T uc002xjy.1 - 3 697 c.473C>A c.(472-474)CCC>CAC p.P158H NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 158 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) AGGGGGCCTGGGGCCTGGGTC 0.647 NA 4 64 0.000602214 0.000753197 0.000602 1 0 PTPRT 11122 broad.mit.edu 37 20 40748573 40748573 + Splice_Site SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr20:40748573A>T uc002xkg.2 - 20 3068 c.2884_splice c.e20+1 p.G962_splice PTPRT_uc010ggj.2_Splice_Site_p.G981_splice|PTPRT_uc010ggi.2_Splice_Site_p.G165_splice NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAGGGCACTTACCTTGAGTCG 0.512 NA 14 172 0 0 0.003163 0 0 MYBL2 4605 broad.mit.edu 37 20 42331360 42331361 + Missense_Mutation DNP CA CA TT TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr20:42331360_42331361CA>TT uc002xlb.1 + 8 1397_1398 c.1182_1183CA>TT c.(1180-1185)CCCAGC>CCTTGC p.S395C MYBL2_uc010zwj.1_Missense_Mutation_p.S371C|MYBL2_uc002xla.1_Missense_Mutation_p.S395C NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 395 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCATCTCCCCCAGCACTGAAGT 0.649 NA 6 62 0 0 0.004672 0 0 BMP7 655 broad.mit.edu 37 20 55803312 55803312 + Missense_Mutation SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr20:55803312T>C uc010gip.1 - 2 1113 c.584A>G c.(583-585)TAT>TGT p.Y195C BMP7_uc010giq.1_Missense_Mutation_p.Y195C|BMP7_uc002xyc.2_Missense_Mutation_p.Y195C NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 195 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GAGCACCTGATAAACGCTGAT 0.572 NA 9 239 0 0 0.008291 0 0 STX16 8675 broad.mit.edu 37 20 57245566 57245566 + Splice_Site SNP A A C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr20:57245566A>C uc002xzi.2 + 6 1292 c.557_splice c.e6-2 p.R186_splice STX16_uc010zzq.1_Splice_Site|STX16_uc002xzk.2_Splice_Site_p.R169_splice|STX16_uc002xzm.2_Splice_Site_p.R182_splice|STX16_uc002xzj.2_Splice_Site_p.R165_splice|STX16_uc002xzl.2_Splice_Site NM_001001433 NP_001001433 O14662 STX16_HUMAN syntaxin 16 isoform a intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity ovary(1) 1 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) TATCTGTGATAGGCATGAAGA 0.388 NA 3 82 0 0 0.004672 0 0 LIPI 149998 broad.mit.edu 37 21 15537620 15537620 + Nonsense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr21:15537620A>T uc002yjm.2 - 6 898 c.888T>A c.(886-888)TGT>TGA p.C296* LIPI_uc010gkw.1_Nonsense_Mutation_p.C199* NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 275 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGTATGAACGACAAGGAAATG 0.358 NA 11 99 0 0 0.008291 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28306829 28306829 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr21:28306829G>T uc002ymg.2 - 4 2374 c.1645C>A c.(1645-1647)CTG>ATG p.L549M NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 549 Disintegrin. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TTGCCCTGCAGGCAGATTCTC 0.507 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 8 137 0.000274275 0.000355182 0.004482 1 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692128 31692128 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr21:31692128G>T uc002ynw.2 - 1 480 c.226C>A c.(226-228)CTT>ATT p.L76I NM_203405 NP_981950 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 76 intermediate filament ovary(1) 1 GAGGTTTCAAGATTGCCGGTC 0.547 NA 13 125 8.60227e-14 1.78976e-13 0.004007 1 0 KRTAP19-3 337970 broad.mit.edu 37 21 31864089 31864089 + Nonsense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr21:31864089C>A uc002yog.1 - 1 187 c.187G>T c.(187-189)GGA>TGA p.G63* NM_181609 NP_853640 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 63 intermediate filament 0 CAGCCATATCCGTAGCCTCCG 0.502 NA 6 122 0.000978159 0.00120621 0.000978 1 0 MORC3 23515 broad.mit.edu 37 21 37741309 37741309 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr21:37741309G>T uc002yvi.2 + 15 1719 c.1643G>T c.(1642-1644)CGT>CTT p.R548L NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 548 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 CTTTCTACTCGTTCCTCAATT 0.294 NA 7 46 8.12818e-05 0.000111161 0.001984 1 0 TRAPPC10 7109 broad.mit.edu 37 21 45522849 45522849 + Silent SNP C C T rs146580471 TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr21:45522849C>T uc002zea.2 + 22 3706 c.3537C>T c.(3535-3537)GAC>GAT p.D1179D TRAPPC10_uc010gpo.2_Silent_p.D890D|TRAPPC10_uc011afa.1_Silent_p.D557D NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 1179 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 CCCAACTGGACGCTGGTAAGG 0.512 NA 3 71 0 0 0.004672 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057462 46057462 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr21:46057462C>A uc002zfq.2 + 1 190 c.128C>A c.(127-129)ACC>AAC p.T43N C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN keratin associated protein 10-10 43 15 X 5 AA repeats of C-C-X(3). keratin filament 0 CTGGTCTGCACCCCAGTGAGC 0.662 NA 3 38 3.59834e-05 5.19628e-05 0.001168 1 0 PPIL2 23759 broad.mit.edu 37 22 22035675 22035675 + Missense_Mutation SNP A A G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr22:22035675A>G uc010gtj.1 + 7 499 c.383A>G c.(382-384)TAT>TGT p.Y128C PPIL2_uc002zvh.3_Missense_Mutation_p.Y128C|PPIL2_uc002zvi.3_Missense_Mutation_p.Y128C|PPIL2_uc002zvg.3_Missense_Mutation_p.Y128C|PPIL2_uc011aij.1_Missense_Mutation_p.Y107C NM_148175 NP_680480 Q13356 PPIL2_HUMAN peptidylprolyl isomerase-like 2 isoform a 128 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity ovary(2) 2 Colorectal(54;0.105) GTCTACGCCTATGAGGTGTGT 0.587 NA 3 44 0 0 0.004672 0 0 C22orf30 253143 broad.mit.edu 37 22 32108284 32108284 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr22:32108284G>T uc003alp.3 - 4 5734 c.5541C>A c.(5539-5541)ACC>ACA p.T1847T C22orf30_uc003alo.1_Silent_p.T1646T|C22orf30_uc010gwj.1_Silent_p.T1646T NM_173566 NP_775837 Q5THK1 PR14L_HUMAN hypothetical protein LOC253143 1847 0 GCCTCTGCATGGTAGGCATGT 0.522 NA 6 94 0.00307968 0.00362461 0.00308 1 0 CNTN4 152330 broad.mit.edu 37 3 2942376 2942376 + Silent SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:2942376T>A uc003bpc.2 + 10 1169 c.948T>A c.(946-948)CCT>CCA p.P316P CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.P316P|CNTN4_uc003bpe.2_5'UTR|CNTN4_uc003bpf.2_5'UTR NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 316 Ig-like C2-type 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TAGCTCAACCTAATTGGATTC 0.348 NA 4 149 0 0 0.000248 0 0 KIF9 64147 broad.mit.edu 37 3 47289507 47289507 + Splice_Site SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:47289507C>A uc010hjp.2 - 12 1732 c.1128_splice c.e12+1 p.L376_splice KIF9_uc003cqx.2_Splice_Site_p.L376_splice|KIF9_uc003cqy.2_Splice_Site_p.L376_splice|KIF9_uc011bat.1_Splice_Site|KIF9_uc011bau.1_Splice_Site NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TAGCCTCTTACCAGGCTGTCA 0.577 Colon(44;962 1147 15977 24541) NA 18 168 2.44723e-14 5.11588e-14 0.004656 1 0 OR5K1 26339 broad.mit.edu 37 3 98188903 98188903 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:98188903G>T uc003dsm.2 + 1 483 c.483G>T c.(481-483)GGG>GGT p.G161G NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 161 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 TTCATGTAGGGCTTGTATTTA 0.418 NA 11 375 0.00829132 0.00962933 0.008291 1 0 IGSF11 152404 broad.mit.edu 37 3 118623644 118623644 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:118623644G>A uc003ebw.2 - 6 952 c.705C>T c.(703-705)CCC>CCT p.P235P IGSF11_uc011biv.1_Intron|IGSF11_uc003ebx.2_Silent_p.A211A|IGSF11_uc003eby.2_Silent_p.P234P|IGSF11_uc003ebz.2_Silent_p.A210A|IGSF11_uc010hqs.2_Silent_p.P234P NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 235 Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 TCCTGGGCTGGGCTGCAAAAT 0.348 NA 17 195 0 0 0.004007 0 0 PARP9 83666 broad.mit.edu 37 3 122274537 122274537 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:122274537C>A uc010hri.2 - 4 731 c.586G>T c.(586-588)GCT>TCT p.A196S PARP9_uc003eff.3_Missense_Mutation_p.A161S|PARP9_uc011bjs.1_Missense_Mutation_p.A161S|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.A161S|PARP9_uc003efh.2_Missense_Mutation_p.A196S|PARP9_uc003efj.2_Missense_Mutation_p.A161S NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 196 Macro 1. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) GGCCCAACAGCATGGATGATC 0.463 NA 4 58 0.00024832 0.000326385 0.000248 1 0 RHO 6010 broad.mit.edu 37 3 129251250 129251250 + Silent SNP C C A rs143003934 TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:129251250C>A uc003emt.2 + 3 782 c.687C>A c.(685-687)ACC>ACA p.T229T NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 229 Helical; Name=5; (Potential). protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) TCGTCTTCACCGTCAAGGAGG 0.592 Esophageal Squamous(118;214 1623 30842 43234 46940) NA 9 99 3.86212e-05 5.52271e-05 0.008291 1 0 CLRN1 7401 broad.mit.edu 37 3 150690263 150690263 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:150690263G>C uc003eyk.1 - 1 524 c.233C>G c.(232-234)GCA>GGA p.A78G CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 78 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) AAAGGGCCTTGCTCCCAACCC 0.478 NA 5 92 0 0 0.001168 0 0 PPM1L 151742 broad.mit.edu 37 3 160474182 160474182 + Missense_Mutation SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:160474182T>C uc003fdr.2 + 1 187 c.86T>C c.(85-87)CTG>CCG p.L29P NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN protein phosphatase 1 (formerly 2C)-like 29 Helical; (Potential). protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1) 1 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) CTTTTCCTGCTGTGCATCAGC 0.517 Pancreas(86;250 1994 13715 43211) NA 16 88 0 0 0.007413 0 0 SI 6476 broad.mit.edu 37 3 164709251 164709251 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:164709251G>T uc003fei.2 - 44 5060 c.4998C>A c.(4996-4998)GGC>GGA p.G1666G NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1666 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTCCTCTGACGCCAATATCTT 0.403 NA HNSCC(35;0.089) 8 66 0.000157383 0.000210004 0.00308 1 0 HTR3E 285242 broad.mit.edu 37 3 183822012 183822012 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:183822012G>A uc010hxq.2 + 4 788 c.322G>A c.(322-324)GAG>AAG p.E108K HTR3E_uc003fml.3_Missense_Mutation_p.E93K|HTR3E_uc003fmm.2_Missense_Mutation_p.E123K|HTR3E_uc010hxr.2_Missense_Mutation_p.E108K|HTR3E_uc003fmn.2_Missense_Mutation_p.E108K NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 108 Extracellular (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) AGAGGAATGTGAGGGCATCAC 0.483 Melanoma(7;227 727 6634 44770) NA 3 36 0 0 0.000602 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2321937 2321937 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:2321937C>G uc003gex.1 - 7 1082 c.763G>C c.(763-765)GAG>CAG p.E255Q ZFYVE28_uc011bvk.1_Missense_Mutation_p.E185Q|ZFYVE28_uc011bvl.1_Missense_Mutation_p.E225Q|ZFYVE28_uc003gew.1_Missense_Mutation_p.E141Q NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 255 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 CGGAACAGCTCGGACATGTCT 0.607 NA 7 47 0 0 0.00308 0 0 EVC2 132884 broad.mit.edu 37 4 5693029 5693029 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:5693029G>A uc003gij.2 - 4 536 c.482C>T c.(481-483)ACT>ATT p.T161I EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.T81I NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 161 integral to membrane large_intestine(3)|ovary(2) 5 ATTTTCAGAAGTCCCTTGAAC 0.299 NA 5 147 0 0 0.001168 0 0 PPEF2 5470 broad.mit.edu 37 4 76797517 76797517 + Nonsense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:76797517C>A uc003hix.2 - 11 1600 c.1243G>T c.(1243-1245)GAG>TAG p.E415* PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Nonsense_Mutation_p.E415* NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 415 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CGGGAGGGCTCCTCTTTCTCT 0.677 NSCLC(105;1359 1603 15961 44567 47947) NA 10 67 3.07112e-06 4.88486e-06 0.000978 1 0 MRPL1 65008 broad.mit.edu 37 4 78830509 78830509 + Nonsense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:78830509C>T uc003hku.2 + 7 958 c.760C>T c.(760-762)CAG>TAG p.Q254* MRPL1_uc010iji.1_Nonsense_Mutation_p.Q177* NM_020236 NP_064621 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 precursor 254 RNA binding 0 GAACTTTCTCCAGACCAAAAT 0.294 NA 7 133 0 0 0.001984 0 0 UBE2D3 7323 broad.mit.edu 37 4 103723775 103723775 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:103723775G>A uc003hwk.2 - 5 602 c.141C>T c.(139-141)GGC>GGT p.G47G UBE2D3_uc003hwi.2_Silent_p.G47G|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Silent_p.G47G|UBE2D3_uc011cet.1_Silent_p.G47G|UBE2D3_uc011ceu.1_Silent_p.G47G|UBE2D3_uc003hwo.2_Silent_p.G47G|UBE2D3_uc003hwp.2_Silent_p.G47G|UBE2D3_uc003hwq.2_Silent_p.G49G|UBE2D3_uc003hwr.2_Silent_p.G47G NM_181887 NP_871616 P61077 UB2D3_HUMAN ubiquitin-conjugating enzyme E2D 3 isoform 1 47 apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway endosome membrane|plasma membrane ATP binding|protein binding|ubiquitin-protein ligase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.13e-08) AGAATACACCGCCTTGATATG 0.323 NA 6 133 0 0 0.001168 0 0 NHEDC1 150159 broad.mit.edu 37 4 103910990 103910990 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:103910990G>C uc003hww.2 - 3 300 c.178C>G c.(178-180)CTA>GTA p.L60V NHEDC1_uc003hwu.2_Missense_Mutation_p.L60V|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 60 integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) ACTCCTCTTAGAGGACAAGAA 0.284 NA 11 53 0 0 0.008291 0 0 ANK2 287 broad.mit.edu 37 4 114177071 114177071 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:114177071C>A uc003ibe.3 + 11 1271 c.1171C>A c.(1171-1173)CCG>ACG p.P391T ANK2_uc003ibd.3_Missense_Mutation_p.P370T|ANK2_uc003ibf.3_Missense_Mutation_p.P391T|ANK2_uc003ibc.2_Missense_Mutation_p.P367T|ANK2_uc011cgb.1_Missense_Mutation_p.P406T NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 391 ANK 11. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGAGCCAATCCGAACGCCAG 0.493 NA 8 120 0.000442599 0.000564829 0.006214 1 0 TMEM144 55314 broad.mit.edu 37 4 159162701 159162701 + Missense_Mutation SNP T T G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:159162701T>G uc003ipx.2 + 11 1363 c.843T>G c.(841-843)TGT>TGG p.C281W TMEM144_uc010iqi.2_RNA NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN transmembrane protein 144 281 Helical; (Potential). integral to membrane 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) CTACCTGCTGTTGGTTCATAG 0.408 NA 27 273 0 0 0.001786 0 0 DDX60L 91351 broad.mit.edu 37 4 169300609 169300609 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:169300609G>A uc003irq.3 - 32 4489 c.4268C>T c.(4267-4269)GCA>GTA p.A1423V NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1423 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CAAATATGATGCAAGTCCTGC 0.328 NA 7 48 0 0 0.001984 0 0 MFAP3L 9848 broad.mit.edu 37 4 170912688 170912688 + Silent SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:170912688T>A uc003isp.3 - 3 1249 c.1071A>T c.(1069-1071)GCA>GCT p.A357A MFAP3L_uc003isn.3_Silent_p.A254A NM_021647 NP_067679 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like isoform 357 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TAGAAGGTTCTGCAGTTTCGG 0.507 NA 9 136 0 0 0.004482 0 0 LOC285501 285501 broad.mit.edu 37 4 178896957 178896957 + Splice_Site SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:178896957G>C uc010iru.2 + 5 c.627_splice c.e5-1 NR_028342 Homo sapiens cDNA clone IMAGE:4828874. 0 all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236) all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884) TCTTTTCTTAGGAGAGAAGAC 0.423 NA 10 124 0 0 0.006214 0 0 F11 2160 broad.mit.edu 37 4 187201386 187201386 + Missense_Mutation SNP A A G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr4:187201386A>G uc003iza.1 + 9 1208 c.875A>G c.(874-876)CAT>CGT p.H292R NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 292 Apple 4. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GTGTTCTGCCATTCTTCATTT 0.502 NA 16 209 0 0 0.006122 0 0 MARCH6 10299 broad.mit.edu 37 5 10410252 10410252 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:10410252G>A uc003jet.1 + 18 1738 c.1555G>A c.(1555-1557)GAT>AAT p.D519N MARCH6_uc011cmu.1_Missense_Mutation_p.D471N|MARCH6_uc003jeu.1_Missense_Mutation_p.D217N|MARCH6_uc011cmv.1_Missense_Mutation_p.D414N NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 519 Extracellular (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 CTCTTTCAGTGATGCTCCAGT 0.378 NA 54 200 0 0 0.00361 0 0 PRDM9 56979 broad.mit.edu 37 5 23522766 23522766 + Silent SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:23522766C>G uc003jgo.2 + 8 836 c.654C>G c.(652-654)GCC>GCG p.A218A NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 218 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GCTGTGCTGCCCATGGGCCCC 0.512 NA HNSCC(3;0.000094) 15 63 0 0 0.004007 0 0 CDH9 1007 broad.mit.edu 37 5 26906121 26906121 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:26906121G>T uc003jgs.1 - 5 927 c.758C>A c.(757-759)ACA>AAA p.T253K CDH9_uc010iug.2_Missense_Mutation_p.T253K NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 253 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 GATGTTCACTGTGGTGGTTCC 0.458 Melanoma(8;187 585 15745 40864 52829) NA 19 301 7.07596e-05 9.89282e-05 0.006122 1 0 NPR3 4883 broad.mit.edu 37 5 32786366 32786366 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:32786366G>T uc003jhv.2 + 8 1759 c.1541G>T c.(1540-1542)AGG>ATG p.R514M NPR3_uc011cnz.1_Missense_Mutation_p.R297M|NPR3_uc003jhu.2_Missense_Mutation_p.R513M|C5orf23_uc003jhw.1_5'Flank NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 514 Cytoplasmic (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) ACCATTGAGAGGCGAACCCAG 0.418 NA 6 12 0.00198382 0.00237301 0.001984 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33546167 33546167 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:33546167G>T uc003jia.1 - 22 4606 c.4443C>A c.(4441-4443)GAC>GAA p.D1481E ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1396E NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1481 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GTCTTACCAGGTCCCAGTTCC 0.333 NA HNSCC(64;0.19) 11 144 2.80697e-09 5.17757e-09 0.000978 1 0 RAI14 26064 broad.mit.edu 37 5 34823639 34823639 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:34823639G>T uc003jir.2 + 15 1888 c.1692G>T c.(1690-1692)GAG>GAT p.E564D RAI14_uc010iur.2_Missense_Mutation_p.E535D|RAI14_uc011coj.1_Missense_Mutation_p.E564D|RAI14_uc003jis.2_Missense_Mutation_p.E567D|RAI14_uc003jit.2_Missense_Mutation_p.E564D|RAI14_uc011cok.1_Missense_Mutation_p.E556D NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 564 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) tagagagggagaaagGTACAG 0.239 NA 8 101 1.26484e-09 2.35283e-09 0.00308 1 0 NIPBL 25836 broad.mit.edu 37 5 36955648 36955648 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:36955648G>C uc003jkl.3 + 3 638 c.139G>C c.(139-141)GCA>CCA p.A47P NIPBL_uc003jkk.3_Missense_Mutation_p.A47P NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 47 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGCACGAATAGCAGAAGAGGT 0.413 NA 60 172 0 0 0.00361 0 0 NIPBL 25836 broad.mit.edu 37 5 37049220 37049220 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:37049220A>T uc003jkl.3 + 40 7270 c.6771A>T c.(6769-6771)AAA>AAT p.K2257N NIPBL_uc003jkk.3_Missense_Mutation_p.K2257N|NIPBL_uc003jkn.2_5'Flank NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2257 HEAT 4. brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TAGGGAAGAAAGTTGCAAAAC 0.358 NA 23 239 0 0 0.00333 0 0 FYB 2533 broad.mit.edu 37 5 39134975 39134975 + Silent SNP T T G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:39134975T>G uc003jls.2 - 7 1724 c.1657A>C c.(1657-1659)AGA>CGA p.R553R FYB_uc003jlt.2_Silent_p.R553R|FYB_uc003jlu.2_Silent_p.R553R|FYB_uc011cpl.1_Silent_p.R563R NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 553 SH3. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) CTTGCTGTTCTGCCCAACCAT 0.423 NA 14 110 0 0 0.00245 0 0 ZNF366 167465 broad.mit.edu 37 5 71756814 71756814 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:71756814C>A uc003kce.1 - 2 696 c.510G>T c.(508-510)CTG>CTT p.L170L NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) AGGGCGTGGGCAGGAATGGAG 0.637 NA 13 107 0.000308642 0.000398511 0.003163 1 0 FAM169A 26049 broad.mit.edu 37 5 74100403 74100403 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:74100403G>T uc003kdm.2 - 8 870 c.827C>A c.(826-828)CCT>CAT p.P276H FAM169A_uc010izm.2_Missense_Mutation_p.P216H|FAM169A_uc003kdl.2_Missense_Mutation_p.P94H NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN hypothetical protein LOC26049 276 0 TCCAGACATAGGTCTTTTAGG 0.368 NA 10 140 2.27111e-07 3.83468e-07 0.001368 1 0 MEGF10 84466 broad.mit.edu 37 5 126754829 126754829 + Silent SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:126754829C>G uc003kuh.3 + 12 1685 c.1323C>G c.(1321-1323)ACC>ACG p.T441T MEGF10_uc010jdc.1_Silent_p.T441T|MEGF10_uc010jdd.1_Silent_p.T441T|MEGF10_uc003kui.3_Silent_p.T441T NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 441 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACTGCTCTACCCCATGCCCTC 0.448 NA 13 202 0 0 0.003163 0 0 MEGF10 84466 broad.mit.edu 37 5 126792950 126792950 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:126792950C>T uc003kuh.3 + 26 3725 c.3363C>T c.(3361-3363)TCC>TCT p.S1121S MEGF10_uc003kui.3_Silent_p.S1121S NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 1121 Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.|Ser-rich. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACAGTTCATCCTCCCCTAAGC 0.453 NA 6 30 0 0 0.00308 0 0 SEC24A 10802 broad.mit.edu 37 5 134002584 134002584 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:134002584C>T uc003kzs.2 + 3 925 c.637C>T c.(637-639)CCT>TCT p.P213S SEC24A_uc011cxu.1_5'UTR NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 213 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCATGGGCCCCCTCCAGCTGG 0.522 NA 9 83 0 0 0.000978 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175994 140175994 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:140175994C>T uc003lhd.2 + 1 1551 c.1445C>T c.(1444-1446)GCG>GTG p.A482V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A482V|PCDHA2_uc011czy.1_Missense_Mutation_p.A482V NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 482 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGGATGCGGACGCGCAG 0.657 NA 3 54 0 0 0.004672 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181956 140181956 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:140181956C>A uc003lhf.2 + 1 1174 c.1174C>A c.(1174-1176)CAC>AAC p.H392N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.H392N NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 392 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGACGCCCCACGTCCCCTT 0.567 NA 5 102 3.59834e-05 5.19628e-05 0.001168 1 0 PCDHA11 56138 broad.mit.edu 37 5 140249814 140249814 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:140249814C>A uc003lia.2 + 1 1984 c.1126C>A c.(1126-1128)CGT>AGT p.R376S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R376S NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 376 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGTCTGACCGTGACTCAGG 0.572 NA 12 94 7.93312e-07 1.29949e-06 0.00245 1 0 RANBP17 64901 broad.mit.edu 37 5 170640697 170640697 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:170640697G>T uc003mba.2 + 21 2310 c.2294G>T c.(2293-2295)TGT>TTT p.C765F RANBP17_uc003mbb.2_Missense_Mutation_p.C90F|RANBP17_uc003mbd.2_Missense_Mutation_p.C128F|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 765 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAGCCAACATGTACAACTCCC 0.418 NA T TRD@ ALL 26 232 2.65835e-16 5.63775e-16 0.007291 1 0 CDHR2 54825 broad.mit.edu 37 5 176011514 176011514 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:176011514C>A uc003mem.1 + 19 2298 c.2232C>A c.(2230-2232)ATC>ATA p.I744I CDHR2_uc003men.1_Silent_p.I744I NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 744 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 ACTTCATGATCCGAGGCTTGG 0.632 NA 10 138 0.00185496 0.00226202 0.001855 1 0 OR2Y1 134083 broad.mit.edu 37 5 180166174 180166174 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:180166174G>A uc003mmf.1 - 1 885 c.885C>T c.(883-885)GAC>GAT p.D295D NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCCCTTCACGTCCTTGTTTC 0.408 NA 8 231 0 0 0.008291 0 0 MGAT1 4245 broad.mit.edu 37 5 180218718 180218718 + Silent SNP A A C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:180218718A>C uc003mmg.3 - 2 1749 c.1254T>G c.(1252-1254)GGT>GGG p.G418G MGAT1_uc010jlf.2_Silent_p.G418G|MGAT1_uc010jlg.2_Silent_p.G418G|MGAT1_uc003mmh.3_Silent_p.G418G|MGAT1_uc010jlh.2_Silent_p.G418G|MGAT1_uc003mmi.3_Silent_p.G418G NM_002406 NP_002397 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein 418 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(1) 1 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGTGACAATACCCCGGTAGC 0.612 NA 7 26 0 0 0.000978 0 0 KLHL31 401265 broad.mit.edu 37 6 53519984 53519984 + Silent SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr6:53519984T>C uc003pcb.3 - 2 228 c.87A>G c.(85-87)AAA>AAG p.K29K NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN kelch repeat and BTB (POZ) domain containing 1 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent ovary(1) 1 Lung NSC(77;0.0158) AAGCATTCAGTTTGTTTAGGG 0.423 NA 6 88 0 0 0.001168 0 0 GJA10 84694 broad.mit.edu 37 6 90604267 90604267 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr6:90604267C>A uc011eaa.1 + 1 80 c.80C>A c.(79-81)ACC>AAC p.T27N NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 27 Helical; (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) ATCTGGCTGACCATCCTCTTC 0.507 NA 19 156 1.33834e-09 2.47903e-09 0.007413 1 0 EPHA7 2045 broad.mit.edu 37 6 94120814 94120814 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr6:94120814G>T uc003poe.2 - 3 478 c.237C>A c.(235-237)CCC>CCA p.P79P EPHA7_uc003pof.2_Silent_p.P79P|EPHA7_uc011eac.1_Silent_p.P79P|EPHA7_uc003pog.3_Silent_p.P79P NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 79 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGTTTTGGTTGGGCTCCATGA 0.418 NA 13 179 1.36491e-13 2.77405e-13 0.001855 1 0 BCLAF1 9774 broad.mit.edu 37 6 136597201 136597201 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr6:136597201T>A uc003qgx.1 - 5 1715 c.1462A>T c.(1462-1464)ATA>TTA p.I488L BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.I486L|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.I486L NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 488 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTTACTGTTATTCTTTCAGAA 0.363 Colon(142;1534 1789 5427 7063 28491) NA 17 355 0 0 0.007413 0 0 CCDC28A 25901 broad.mit.edu 37 6 139097279 139097279 + Missense_Mutation SNP A A G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr6:139097279A>G uc003qie.2 + 2 447 c.292A>G c.(292-294)AGG>GGG p.R98G uc003qid.1_5'Flank NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 98 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) GAAAGTGAAGAGGAGGAGTCC 0.403 NA 22 101 0 0 0.002299 0 0 SYNE1 23345 broad.mit.edu 37 6 152725441 152725441 + Silent SNP A A C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr6:152725441A>C uc010kiw.2 - 46 7334 c.6732T>G c.(6730-6732)GTT>GTG p.V2244V SYNE1_uc003qot.3_Silent_p.V2251V|SYNE1_uc003qou.3_Silent_p.V2244V|SYNE1_uc010kjb.1_Silent_p.V2227V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2244 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTTGTTTTTAACTTCAGACT 0.333 NA HNSCC(10;0.0054) 9 139 0 0 0.006214 0 0 RBM16 22828 broad.mit.edu 37 6 155152133 155152133 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr6:155152133G>T uc003qqa.2 + 20 2450 c.2218G>T c.(2218-2220)GGT>TGT p.G740C TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.G806C|RBM16_uc011efk.1_Missense_Mutation_p.G785C|RBM16_uc003qpz.2_Missense_Mutation_p.G740C|RBM16_uc010kji.2_Missense_Mutation_p.G761C NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 740 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) TATACCAGGCGGTTCTGTTGC 0.433 NA 16 131 1.00905e-13 2.06033e-13 0.008871 1 0 MAP3K4 4216 broad.mit.edu 37 6 161508882 161508882 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr6:161508882G>T uc003qtn.2 + 10 2861 c.2719G>T c.(2719-2721)GGT>TGT p.G907C MAP3K4_uc010kkc.1_Missense_Mutation_p.G907C|MAP3K4_uc003qto.2_Missense_Mutation_p.G907C|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.G360C NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 907 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GACCAAGCACGGTGATCGAGC 0.512 NA 23 112 2.21704e-12 4.44419e-12 0.00278 1 0 PDE10A 10846 broad.mit.edu 37 6 165792703 165792703 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr6:165792703G>T uc003qun.2 - 19 2176 c.1935C>A c.(1933-1935)AAC>AAA p.N645K PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.N575K|PDE10A_uc003quo.2_Missense_Mutation_p.N655K NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 645 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GATTATTAAGGTTTAGTGATC 0.368 Esophageal Squamous(22;308 615 5753 12038 40624) NA 14 165 4.3838e-07 7.28973e-07 0.001855 1 0 TMEM195 392636 broad.mit.edu 37 7 15430503 15430503 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:15430503T>A uc003stb.1 - 7 874 c.704A>T c.(703-705)AAT>ATT p.N235I NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 235 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 ACCAGCATAATTTTTGTCTAT 0.259 NA 10 38 0 0 0.000978 0 0 FERD3L 222894 broad.mit.edu 37 7 19184745 19184745 + Nonsense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:19184745C>A uc003suo.1 - 1 300 c.241G>T c.(241-243)GAG>TAG p.E81* uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 81 Poly-Glu. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 cttccgcgctcctcttcctcc 0.358 NA 7 30 8.12818e-05 0.000111161 0.001984 1 0 CLK2P 1197 broad.mit.edu 37 7 23625238 23625238 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:23625238C>G uc003swk.2 - 1 909 c.259G>C c.(259-261)GAG>CAG p.E87Q NR_002711 SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2; 0 ACACTGCGCTCATGTCGCTTC 0.493 NA 8 136 0 0 0.00308 0 0 HOXA2 3199 broad.mit.edu 37 7 27141063 27141063 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:27141063C>A uc003syh.2 - 2 688 c.413G>T c.(412-414)GGC>GTC p.G138V NM_006735 NP_006726 O43364 HXA2_HUMAN homeobox A2 138 nucleus sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CCCGCCGCTGCCATCGGCGAT 0.542 NA 3 28 0.000602214 0.000753197 0.000602 1 0 POU6F2 11281 broad.mit.edu 37 7 39247049 39247049 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:39247049C>A uc003thb.1 + 4 383 c.341C>A c.(340-342)CCC>CAC p.P114H POU6F2_uc010kxo.2_Missense_Mutation_p.P106H NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 114 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 CCGGGAGGCCCCCCAGCCCTC 0.582 NA 10 94 6.31663e-08 1.1092e-07 0.003163 1 0 HECW1 23072 broad.mit.edu 37 7 43531769 43531769 + Silent SNP A A G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:43531769A>G uc003tid.1 + 18 3935 c.3330A>G c.(3328-3330)TCA>TCG p.S1110S HECW1_uc011kbi.1_Silent_p.S1076S NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1110 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AACATGAGTCATTGCCACTGG 0.433 NA 9 69 0 0 0.008291 0 0 RAMP3 10268 broad.mit.edu 37 7 45222926 45222926 + Missense_Mutation SNP C C T rs146295145 TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:45222926C>T uc003tnb.2 + 3 423 c.362C>T c.(361-363)CCG>CTG p.P121L RAMP3_uc003tnc.2_Missense_Mutation_p.P89L NM_005856 NP_005847 O60896 RAMP3_HUMAN receptor activity modifying protein 3 precursor 121 Helical; (Potential). intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity 0 Pramlintide(DB01278) GTTCTCATCCCGCTGATCGTT 0.622 NA 11 193 0 0 0.000978 0 0 ZNF479 90827 broad.mit.edu 37 7 57188064 57188064 + Missense_Mutation SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:57188064T>C uc010kzo.2 - 5 1329 c.1058A>G c.(1057-1059)TAT>TGT p.Y353C NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 353 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TTCACAGGCATAGGGTTTCTC 0.438 NA 12 72 0 0 0.001855 0 0 ABCB1 5243 broad.mit.edu 37 7 87179543 87179543 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:87179543C>T uc003uiz.1 - 13 1712 c.1294G>A c.(1294-1296)GGG>AGG p.G432R ABCB1_uc011khc.1_Missense_Mutation_p.G368R NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 432 ATP 1 (By similarity).|ABC transporter 1.|Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GTGCTCTTCCCACAGCCACTG 0.552 NA 4 36 0 0 0.001984 0 0 SAMD9 54809 broad.mit.edu 37 7 92731291 92731291 + Nonsense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:92731291C>A uc003umf.2 - 3 4376 c.4120G>T c.(4120-4122)GAA>TAA p.E1374* SAMD9_uc003umg.2_Nonsense_Mutation_p.E1374* NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1374 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTGCATTGTTCTAAGAGAAAA 0.363 NA 18 191 2.94398e-08 5.27514e-08 0.007413 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95616384 95616384 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:95616384G>T uc003uoc.3 + 9 1088 c.811G>T c.(811-813)GCC>TCC p.A271S DYNC1I1_uc003uod.3_Missense_Mutation_p.A254S|DYNC1I1_uc003uob.2_Missense_Mutation_p.A234S|DYNC1I1_uc003uoe.3_Missense_Mutation_p.A251S|DYNC1I1_uc010lfl.2_Missense_Mutation_p.A260S NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 271 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TCAGGCTGGAGCCAATCTTTC 0.433 NA 25 560 1.77063e-15 3.73705e-15 0.005443 1 0 LMTK2 22853 broad.mit.edu 37 7 97822649 97822649 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:97822649G>T uc003upd.1 + 11 3165 c.2872G>T c.(2872-2874)GCA>TCA p.A958S NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 958 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A958T(1) lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TTCTAAAGACGCAGCAAAAGA 0.502 NA 7 95 7.48243e-07 1.23488e-06 0.006214 1 0 MUC17 140453 broad.mit.edu 37 7 100677756 100677757 + Missense_Mutation DNP CC CC AA TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:100677756_100677757CC>AA uc003uxp.1 + 3 3112_3113 c.3059_3060CC>AA c.(3058-3060)GCC>GAA p.A1020E MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1020 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCTACTGAAGCCAGTTCACCTC 0.525 NA 26 660 0 0 0.004672 0 0 SH2B2 10603 broad.mit.edu 37 7 101952177 101952177 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:101952177C>T uc011kko.1 + 4 1086 c.1041C>T c.(1039-1041)TGC>TGT p.C347C NM_020979 NP_066189 O14492 SH2B2_HUMAN SH2B adaptor protein 2 304 PH. blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity 0 TCCAGGGCTGCGTGGACCCCG 0.607 NA 11 145 0 0 0.008291 0 0 RELN 5649 broad.mit.edu 37 7 103214661 103214661 + Nonsense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:103214661G>T uc003vca.2 - 30 4549 c.4389C>A c.(4387-4389)TAC>TAA p.Y1463* RELN_uc010liz.2_Nonsense_Mutation_p.Y1463* NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1463 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGTTATCTTGTACCACAGAG 0.498 NSCLC(146;835 1944 15585 22231 52158) NA 5 143 2.0095e-06 3.24327e-06 0.001984 1 0 PAX4 5078 broad.mit.edu 37 7 127255560 127255560 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:127255560C>T uc010lld.1 - 1 221 c.15G>A c.(13-15)GGG>GGA p.G5G PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Silent_p.G5G|PAX4_uc003vmh.2_5'UTR NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 13 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CAAAGAGCCCCCCAAGCTGGT 0.627 Ovarian(113;737 1605 7858 27720 34092) NA 4 77 0 0 0.000602 0 0 LEP 3952 broad.mit.edu 37 7 127892140 127892140 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:127892140C>T uc003vml.2 + 2 126 c.69C>T c.(67-69)CCC>CCT p.P23P LEP_uc003vmm.2_Silent_p.P23P NM_000230 NP_000221 P41159 LEP_HUMAN leptin precursor 23 adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth extracellular space 0 AAGCTGTGCCCATCCAAAAAG 0.488 NA 19 222 0 0 0.008871 0 0 FLNC 2318 broad.mit.edu 37 7 128493588 128493588 + Nonsense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:128493588G>T uc003vnz.3 + 38 6483 c.6274G>T c.(6274-6276)GAG>TAG p.E2092* FLNC_uc003voa.3_Nonsense_Mutation_p.E2059* NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2092 Filamin 19. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TGAGGACATGGAGGACGGGAC 0.562 NA 4 41 1.23904e-05 1.87565e-05 0.000602 1 0 MGAM 8972 broad.mit.edu 37 7 141758016 141758016 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:141758016C>T uc003vwy.2 + 31 3761 c.3707C>T c.(3706-3708)CCT>CTT p.P1236L NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1236 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATTGGCCGGCCTGTGATGGTA 0.438 NA 31 467 0 0 0.006999 0 0 TRYX3 136541 broad.mit.edu 37 7 141955355 141955355 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:141955355G>C uc003vxb.2 - 2 499 c.179C>G c.(178-180)CCA>CGA p.P60R TRYX3_uc003vxc.3_Missense_Mutation_p.P60R NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 60 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) TATCACTCACGGTAAATTGCA 0.498 NA 9 112 0 0 0.008291 0 0 PRSS1 5644 broad.mit.edu 37 7 142459655 142459655 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:142459655C>A uc003wak.2 + 3 248 c.231C>A c.(229-231)AAC>AAA p.N77K uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.N17K NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 77 Peptidase S1. Calcium; via carbonyl oxygen. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GAGAGCACAACATCGAAGTCC 0.552 NA Hereditary_Pancreatitis 10 204 2.27111e-07 3.83468e-07 0.001368 1 0 TRPV6 55503 broad.mit.edu 37 7 142574936 142574936 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:142574936C>A uc003wbx.1 - 4 662 c.446G>T c.(445-447)GGC>GTC p.G149V TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.G20V NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 149 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) GAAGGCAGTGCCTGTGGCTCT 0.433 NA 3 25 0.000602214 0.000753197 0.000602 1 0 GIMAP2 26157 broad.mit.edu 37 7 150390208 150390208 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:150390208G>C uc003who.2 + 3 922 c.834G>C c.(832-834)CAG>CAC p.Q278H GIMAP1_uc003whp.2_Intron NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 278 Helical; (Potential). integral to membrane GTP binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTGTATTCAGTTGTTTCTCA 0.363 NA 3 64 0 0 0.000248 0 0 CSMD1 64478 broad.mit.edu 37 8 2855612 2855612 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr8:2855612C>A uc011kwk.1 - 54 8691 c.8301G>T c.(8299-8301)ACG>ACT p.T2767T CSMD1_uc011kwj.1_Silent_p.T2096T|CSMD1_uc010lrg.2_Silent_p.T777T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2767 Extracellular (Potential).|Sushi 19. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCAAATAGCCCGTGTTGCAGG 0.557 NA 5 70 0.000602214 0.000753197 0.000602 1 0 TNKS 8658 broad.mit.edu 37 8 9623218 9623218 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr8:9623218A>T uc003wss.2 + 24 3469 c.3464A>T c.(3463-3465)AAC>ATC p.N1155I TNKS_uc011kww.1_Missense_Mutation_p.N918I NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 1155 PARP catalytic. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) AAAGTTGTCAACAAGAAGTTG 0.388 NA 6 94 0 0 0.004482 0 0 SOX7 83595 broad.mit.edu 37 8 10583456 10583456 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr8:10583456T>A uc003wtf.2 - 2 1038 c.959A>T c.(958-960)CAG>CTG p.Q320L SOX7_uc011kwz.1_Missense_Mutation_p.Q372L NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 320 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GAGTTCCACCTGGCTCAGTTG 0.627 NA 6 40 0 0 0.001984 0 0 EBF2 64641 broad.mit.edu 37 8 25716008 25716008 + Missense_Mutation SNP T T C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr8:25716008T>C uc003xes.1 - 14 1372 c.1355A>G c.(1354-1356)AAC>AGC p.N452S PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 452 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GCTGCTTGTGTTGCGGATGTA 0.522 Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918) NA 7 55 0 0 0.00308 0 0 EXTL3 2137 broad.mit.edu 37 8 28573840 28573840 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr8:28573840G>T uc003xgz.1 + 3 857 c.264G>T c.(262-264)TCG>TCT p.S88S NM_001440 NP_001431 O43909 EXTL3_HUMAN exostoses-like 3 88 Lumenal (Potential). integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding skin(2) 2 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TCCGGGAGTCGGTGAGTGAAG 0.582 NA 5 38 1.23904e-05 1.87565e-05 0.000602 1 0 BRF2 55290 broad.mit.edu 37 8 37704488 37704488 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr8:37704488C>A uc003xkk.2 - 3 530 c.420G>T c.(418-420)ACG>ACT p.T140T NM_018310 NP_060780 Q9HAW0 BRF2_HUMAN RNA polymerase III transcription initiation 140 1. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding 0 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) CATACAACAGCGTGCAGATGG 0.527 NA 17 350 5.01169e-05 7.14329e-05 0.00499 1 0 MYBL1 4603 broad.mit.edu 37 8 67492485 67492485 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr8:67492485C>T uc003xwj.2 - 9 1391 c.984G>A c.(982-984)CAG>CAA p.Q328Q MYBL1_uc003xwl.2_Silent_p.Q328Q|MYBL1_uc003xwk.2_Silent_p.Q327Q NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 328 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) CAGACACAGGCTGATTTTCAT 0.458 NA 9 44 0 0 0.006214 0 0 SNX31 169166 broad.mit.edu 37 8 101601166 101601166 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr8:101601166G>T uc003yjr.2 - 11 1171 c.1020C>A c.(1018-1020)AAC>AAA p.N340K SNX31_uc011lha.1_Missense_Mutation_p.N135K|SNX31_uc011lhb.1_Missense_Mutation_p.N241K NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN sorting nexin 31 340 cell communication|protein transport phosphatidylinositol binding 0 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) CTAAGTTCTGGTTGAGAGTTC 0.358 NA 7 84 8.12818e-05 0.000111161 0.001984 1 0 TRPS1 7227 broad.mit.edu 37 8 116617157 116617157 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr8:116617157G>C uc003ynz.2 - 3 1459 c.1000C>G c.(1000-1002)CGC>GGC p.R334G TRPS1_uc011lhy.1_Missense_Mutation_p.R338G|TRPS1_uc003yny.2_Missense_Mutation_p.R347G|TRPS1_uc010mcy.2_Missense_Mutation_p.R334G NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 334 C2H2-type 2; atypical. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AATTTACAGCGGAAATACTTG 0.413 NA Langer-Giedion_syndrome 8 161 0 0 0.004482 0 0 ZHX1 11244 broad.mit.edu 37 8 124266616 124266616 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr8:124266616C>A uc003yqe.2 - 3 2001 c.1571G>T c.(1570-1572)AGT>ATT p.S524I C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.S524I|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.S524I NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 524 Homeobox 2.|Required for interaction with NFYA. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) GCACTGATTACTCTTTGAATT 0.388 NA 28 337 6.12954e-19 1.31262e-18 0.004656 1 0 TMED10P1 286102 broad.mit.edu 37 8 146220548 146220548 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr8:146220548G>A uc003zey.2 + 1 298 c.277G>A c.(277-279)GGG>AGG p.G93R ZNF252_uc003zew.3_Intron|ZNF252_uc011llo.1_Intron NR_002807 Homo sapiens mRNA for Tmp21-II putative transcribed pseudogene. 0 TACAACCAAGGGGAAATTTGC 0.458 NA 5 88 0 0 0.000602 0 0 DENND4C 55667 broad.mit.edu 37 9 19369931 19369931 + Missense_Mutation SNP T T G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:19369931T>G uc003znq.2 + 26 4799 c.4766T>G c.(4765-4767)CTT>CGT p.L1589R DENND4C_uc011lnc.1_Missense_Mutation_p.L919R|DENND4C_uc011lnd.1_Missense_Mutation_p.L877R|DENND4C_uc003znr.2_Missense_Mutation_p.L877R|DENND4C_uc003zns.2_Missense_Mutation_p.L771R NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 1589 integral to membrane ovary(1)|skin(1) 2 AATAATGTTCTTAAACCCATC 0.378 NA 4 93 0 0 0.000248 0 0 TOPORS 10210 broad.mit.edu 37 9 32543811 32543811 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:32543811T>A uc003zrb.2 - 3 879 c.712A>T c.(712-714)AGG>TGG p.R238W TOPORS_uc003zrc.2_Missense_Mutation_p.R171W NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 238 Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) GTAGTTGGCCTCCTTACTGCA 0.398 NA 7 218 0 0 0.00308 0 0 UNC13B 10497 broad.mit.edu 37 9 35403960 35403960 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:35403960G>T uc003zwq.2 + 39 4998 c.4706G>T c.(4705-4707)AGC>ATC p.S1569I UNC13B_uc003zwr.2_Missense_Mutation_p.S1588I|ATP8B5P_uc010mkn.1_5'Flank|ATP8B5P_uc010mko.2_5'Flank|ATP8B5P_uc010mkp.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 1569 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TCTCAGAGGAGCAATGACGAG 0.557 NA 5 79 1.024e-07 1.78387e-07 0.000602 1 0 Unknown 0 broad.mit.edu 37 9 84676025 84676026 + Missense_Mutation DNP GG GG TT TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:84676025_84676026GG>TT uc010mpu.1 - 3 402_403 c.399_400CC>AA c.(397-402)TCCCAG>TCAAAG p.Q134K NM_001164339 NP_001157811 hypothetical protein LOC404770 NA TCTGGTGGCTGGGAGGCACTTA 0.589 NA 16 273 0 0 0.004672 0 0 FAM75C1 441452 broad.mit.edu 37 9 90536768 90536768 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:90536768A>T uc010mqi.2 + 4 1975 c.1946A>T c.(1945-1947)CAG>CTG p.Q649L FAM75C1_uc004apq.3_Missense_Mutation_p.Q632L NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 CTGTGTACTCAGCAGGTGCTG 0.522 NA 22 201 0 0 0.001882 0 0 Unknown 0 broad.mit.edu 37 9 90744734 90744734 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:90744734C>T uc011lti.1 - 4 3247 c.3218G>A c.(3217-3219)CGC>CAC p.R1073H uc004apx.1_5'Flank SubName: Full=cDNA FLJ59639; NA CGAGGCATGGCGCGCATGGCA 0.517 NA 4 104 0 0 0.000248 0 0 ROR2 4920 broad.mit.edu 37 9 94486066 94486066 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:94486066C>A uc004arj.1 - 9 2909 c.2710G>T c.(2710-2712)GGG>TGG p.G904W ROR2_uc004ari.1_Intron NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 904 Cytoplasmic (Potential). negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 CTCTGGGCCCCATCTTCTGGG 0.637 NA 11 135 4.3838e-07 7.28973e-07 0.001855 1 0 OGN 4969 broad.mit.edu 37 9 95163438 95163438 + Silent SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:95163438C>T uc004asa.2 - 3 439 c.204G>A c.(202-204)GAG>GAA p.E68E CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Silent_p.E68E|OGN_uc011ltx.1_Silent_p.E86E NM_014057 NP_054776 P20774 MIME_HUMAN osteoglycin preproprotein 68 extracellular space|proteinaceous extracellular matrix growth factor activity 0 GAAGACTTTTCTCATTGGGTA 0.214 NA 9 188 0 0 0.006214 0 0 ECM2 1842 broad.mit.edu 37 9 95272247 95272247 + Missense_Mutation SNP A A G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:95272247A>G uc004ash.2 - 6 1305 c.1240T>C c.(1240-1242)TCT>CCT p.S414P CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.S392P|ECM2_uc011lty.1_Missense_Mutation_p.S414P|ECM2_uc004asg.2_Missense_Mutation_p.S392P NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 414 LRR 2. cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 TCTAATGTAGATGGCAATTGT 0.299 NA 3 83 0 0 0.004672 0 0 C9orf102 375748 broad.mit.edu 37 9 98678023 98678023 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:98678023A>T uc004avt.3 + 5 1283 c.895A>T c.(895-897)ATG>TTG p.M299L C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.M1L|C9orf102_uc010mry.1_Missense_Mutation_p.M1L|C9orf102_uc010mrz.2_Missense_Mutation_p.M110L NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 299 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) AACAGAAGTTATGAAAGCTTT 0.398 NA 15 131 0 0 0.003163 0 0 COL15A1 1306 broad.mit.edu 37 9 101797630 101797630 + Splice_Site SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:101797630A>T uc004azb.1 + 19 2427 c.2221_splice c.e19-2 p.D741_splice NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CTCCTTCCCCAGGATACCGAA 0.318 NA 11 114 0 0 0.00245 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898635 112898635 + Missense_Mutation SNP G G T rs146199973 byFrequency TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:112898635G>T uc004bei.2 + 9 1699 c.1507G>T c.(1507-1509)GAT>TAT p.D503Y PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.D271Y|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.D271Y|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.D81Y|AKAP2_uc011lwi.1_Missense_Mutation_p.D129Y|AKAP2_uc004bem.2_Missense_Mutation_p.D129Y|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.D89Y|AKAP2_uc011lwj.1_Missense_Mutation_p.D40Y|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.D40Y NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 40 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 CCTCCTTACTGATCACCACGA 0.498 NA 9 227 0.000442599 0.000564829 0.006214 1 0 TLR4 7099 broad.mit.edu 37 9 120475650 120475650 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr9:120475650G>T uc004bjz.2 + 3 1535 c.1244G>T c.(1243-1245)AGT>ATT p.S415I TLR4_uc004bka.2_Missense_Mutation_p.S375I|TLR4_uc004bkb.2_Missense_Mutation_p.S215I NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 415 LRR 12.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 ATTACCATGAGTTCAAACTTC 0.373 NA 13 164 7.93312e-07 1.29949e-06 0.00245 1 0 MXRA5 25878 broad.mit.edu 37 X 3240239 3240239 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:3240239G>A uc004crg.3 - 5 3644 c.3487C>T c.(3487-3489)CGC>TGC p.R1163C NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1163 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGCCGGTGGCGGAATTTGTTG 0.493 NA 16 199 0 0 0.006122 0 0 PHKA2 5256 broad.mit.edu 37 X 18972504 18972504 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:18972504G>T uc004cyv.3 - 2 535 c.105C>A c.(103-105)GCC>GCA p.A35A PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_5'UTR NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 35 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) GCTCATGGCTGGCTGACAGCA 0.552 NA 7 84 7.48243e-07 1.23488e-06 0.006214 1 0 PTCHD1 139411 broad.mit.edu 37 X 23412216 23412216 + Missense_Mutation SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:23412216A>T uc004dal.3 + 3 2589 c.2581A>T c.(2581-2583)AAT>TAT p.N861Y NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 861 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 AGAGAAGAAAAATCCTGAGAA 0.398 NA 10 187 0 0 0.006214 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29938086 29938086 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:29938086G>T uc004dby.2 + 8 1440 c.932G>T c.(931-933)GGG>GTG p.G311V NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 311 Extracellular (Potential).|Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GAGCATCTTGGGGAACAGGAA 0.373 NA 11 252 1.61879e-10 3.11688e-10 0.001368 1 0 DMD 1756 broad.mit.edu 37 X 32382758 32382758 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:32382758C>T uc004dda.1 - 36 5339 c.5095G>A c.(5095-5097)GAC>AAC p.D1699N DMD_uc004dcw.2_Missense_Mutation_p.D355N|DMD_uc004dcx.2_Missense_Mutation_p.D358N|DMD_uc004dcz.2_Missense_Mutation_p.D1576N|DMD_uc004dcy.1_Missense_Mutation_p.D1695N|DMD_uc004ddb.1_Missense_Mutation_p.D1691N|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1699 Spectrin 12.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AAAAGTGTGTCAGCCTGAATG 0.373 NA 12 249 0 0 0.000978 0 0 FAM47C 442444 broad.mit.edu 37 X 37028015 37028015 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:37028015G>A uc004ddl.1 + 1 1546 c.1532G>A c.(1531-1533)CGC>CAC p.R511H NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 511 ovary(3) 3 TCTCATCTCCGCCCAGAGCCT 0.602 NA 9 131 0 0 0.004482 0 0 RPGR 6103 broad.mit.edu 37 X 38132700 38132700 + Nonsense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:38132700G>C uc004deb.2 - 18 2348 c.2180C>G c.(2179-2181)TCA>TGA p.S727* RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA NM_000328 NP_000319 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform A Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 GATTTCTAATGAACTGCTATC 0.328 NA 4 58 0 0 0.000248 0 0 RPGR 6103 broad.mit.edu 37 X 38169932 38169932 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:38169932C>A uc004ded.1 - 7 882 c.714G>T c.(712-714)GTG>GTT p.V238V RPGR_uc004deb.2_Silent_p.V238V|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 238 RCC1 4. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 GAATTTCAGACACCAGCTGGG 0.507 NA 8 71 0.00307968 0.00362461 0.00308 1 0 DUSP21 63904 broad.mit.edu 37 X 44703492 44703492 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:44703492C>G uc004dgd.2 + 1 244 c.114C>G c.(112-114)AAC>AAG p.N38K NM_022076 NP_071359 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 38 Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1) 2 TGGCCGCCAACGACAAACTCC 0.512 NA 7 97 0 0 0.006214 0 0 CLCN5 1184 broad.mit.edu 37 X 49845313 49845313 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:49845313C>A uc004dos.1 + 5 704 c.456C>A c.(454-456)TTC>TTA p.F152L CLCN5_uc004dor.1_Missense_Mutation_p.F222L|CLCN5_uc004doq.1_Missense_Mutation_p.F222L|CLCN5_uc004dot.1_Missense_Mutation_p.F152L NM_000084 NP_000075 P51795 CLCN5_HUMAN chloride channel 5 isoform b 152 Helical; (By similarity). excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding ovary(2)|lung(1)|central_nervous_system(1) 4 Ovarian(276;0.236) TATTTGCCTTCCTTGCCGTAT 0.443 NA 5 150 1.23904e-05 1.87565e-05 0.000602 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77912683 77912683 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:77912683G>T uc004edc.1 - 2 1531 c.1235C>A c.(1234-1236)CCC>CAC p.P412H NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 412 nucleic acid binding|zinc ion binding ovary(1) 1 TGGACTCTCGGGTCCATCTCC 0.527 NA 13 144 9.31168e-06 1.44958e-05 0.001855 1 0 LPAR4 2846 broad.mit.edu 37 X 78010954 78010954 + Silent SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:78010954C>G uc010nme.2 + 2 993 c.588C>G c.(586-588)GTC>GTG p.V196V NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 196 Extracellular (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 CCAAACGTGTCTGGAAGACTT 0.413 NA 8 160 0 0 0.004482 0 0 GPR174 84636 broad.mit.edu 37 X 78426662 78426662 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:78426662G>T uc004edg.1 + 1 194 c.158G>T c.(157-159)CGA>CTA p.R53L NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 53 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 GAAACAAAACGAGCTGTGATA 0.373 NA HNSCC(63;0.18) 4 40 2.56e-06 4.11663e-06 0.000248 1 0 CYLC1 1538 broad.mit.edu 37 X 83128563 83128563 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:83128563T>A uc004eei.1 + 4 868 c.847T>A c.(847-849)TAT>AAT p.Y283N CYLC1_uc004eeh.1_Missense_Mutation_p.Y282N NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 283 1. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 GTATACAAAGTATACAAAGAA 0.313 NA 7 69 0 0 0.001984 0 0 SATL1 340562 broad.mit.edu 37 X 84363147 84363147 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:84363147C>A uc011mqx.1 - 1 828 c.828G>T c.(826-828)ATG>ATT p.M276I SATL1_uc004een.2_Missense_Mutation_p.M276I NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 89 Gln-rich. N-acetyltransferase activity breast(2) 2 TCCATTGGTTCATGTCCATTT 0.448 NA 19 218 1.55795e-14 3.27243e-14 0.001882 1 0 GLA 2717 broad.mit.edu 37 X 100662735 100662735 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:100662735T>A uc004ehl.1 - 1 267 c.157A>T c.(157-159)AAC>TAC p.N53Y HNRNPH2_uc004ehm.2_5'Flank|HNRNPH2_uc004ehn.2_5'Flank|GLA_uc011mrj.1_Missense_Mutation_p.N53Y NM_000169 NP_000160 P06280 AGAL_HUMAN alpha-galactosidase A precursor 53 glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process extracellular region|Golgi apparatus|lysosome cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding 0 Agalsidase beta(DB00103) CAGTCAAGGTTGCACATGAAG 0.552 Colon(193;776 2816 31189 44474) NA 8 141 0 0 0.00308 0 0 NXF5 55998 broad.mit.edu 37 X 101096045 101096045 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:101096045C>A uc011mrk.1 - 8 783 c.423G>T c.(421-423)CTG>CTT p.L141L NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 141 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 TTCTTCGATTCAGGATTATAT 0.522 NA 9 224 2.17888e-05 3.2646e-05 0.006214 1 0 NXF5 55998 broad.mit.edu 37 X 101096677 101096677 + Missense_Mutation SNP C C T rs145492861 TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:101096677C>T uc011mrk.1 - 5 569 c.209G>A c.(208-210)AGT>AAT p.S70N NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 70 RRM. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 AATCTTATAACTGACATCCTT 0.488 NA 6 203 0 0 0.00308 0 0 GPRASP1 9737 broad.mit.edu 37 X 101911404 101911404 + Nonsense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:101911404G>T uc004ejj.3 + 5 3364 c.2563G>T c.(2563-2565)GAG>TAG p.E855* GPRASP1_uc004eji.3_Nonsense_Mutation_p.E855*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.E855* NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 855 Glu-rich. cytoplasm protein binding ovary(1)|lung(1) 2 GGCCAGTCCGGAGGCAGTGGC 0.517 NA 8 143 0.000274275 0.000355182 0.004482 1 0 NXF3 56000 broad.mit.edu 37 X 102338133 102338133 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:102338133C>A uc004eju.2 - 6 680 c.609G>T c.(607-609)GTG>GTT p.V203V NXF3_uc010noi.1_Silent_p.V53V|NXF3_uc011mrw.1_Silent_p.V203V|NXF3_uc011mrx.1_Silent_p.V114V NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 203 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 TTATCTGCTCCACCTTTTCTG 0.498 NA 14 172 4.7546e-09 8.69696e-09 0.004007 1 0 TBC1D8B 54885 broad.mit.edu 37 X 106117037 106117037 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:106117037T>A uc004emo.2 + 21 3370 c.3205T>A c.(3205-3207)TTT>ATT p.F1069I MORC4_uc004emp.3_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 1069 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 TCCTTGTTCCTTTAGGGAGGA 0.458 NA 7 204 0 0 0.001984 0 0 TEX13B 56156 broad.mit.edu 37 X 107224961 107224961 + Missense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:107224961C>T uc004enn.1 - 2 490 c.397G>A c.(397-399)GAG>AAG p.E133K NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 133 ovary(1) 1 AGGCTGGTCTCGGTTAGCTGC 0.572 NA 5 135 0 0 0.001168 0 0 ATG4A 115201 broad.mit.edu 37 X 107377577 107377577 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:107377577G>T uc004enr.2 + 6 526 c.403G>T c.(403-405)GGT>TGT p.G135C ATG4A_uc004ent.2_Missense_Mutation_p.G135C|ATG4A_uc004ens.2_Missense_Mutation_p.G51C|ATG4A_uc011msl.1_Missense_Mutation_p.G51C|ATG4A_uc010npi.2_Intron|ATG4A_uc004enu.2_Missense_Mutation_p.G51C NM_052936 NP_443168 Q8WYN0 ATG4A_HUMAN autophagy-related cysteine endopeptidase 2 135 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity pancreas(1) 1 AGCACAAATGGGTGTAGGAGA 0.338 NA 8 92 3.86212e-05 5.52271e-05 0.008291 1 0 ALG13 79868 broad.mit.edu 37 X 110925492 110925492 + Nonsense_Mutation SNP C C T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:110925492C>T uc011msy.1 + 2 248 c.214C>T c.(214-216)CAG>TAG p.Q72* ALG13_uc004epi.1_Nonsense_Mutation_p.Q72*|ALG13_uc011msw.1_Intron|ALG13_uc011msx.1_5'UTR|ALG13_uc011msz.1_Intron|ALG13_uc011mta.1_5'UTR|ALG13_uc011mtb.1_5'UTR Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 72 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 AGAAGACATTCAGAAAGCAGA 0.363 NA 9 238 0 0 0.006214 0 0 HTR2C 3358 broad.mit.edu 37 X 114141513 114141513 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:114141513C>A uc004epu.1 + 6 1640 c.912C>A c.(910-912)AAC>AAA p.N304K HTR2C_uc010nqc.1_Missense_Mutation_p.N304K|HTR2C_uc004epv.1_3'UTR NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 304 Cytoplasmic (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) AGGCTATCAACAATGAAAGAA 0.458 NA 23 254 2.89027e-11 5.61428e-11 0.002299 1 0 HTR2C 3358 broad.mit.edu 37 X 114141543 114141543 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:114141543G>A uc004epu.1 + 6 1670 c.942G>A c.(940-942)GGG>GGA p.G314G HTR2C_uc010nqc.1_Silent_p.G314G|HTR2C_uc004epv.1_3'UTR NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 314 Helical; Name=6; (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) AAGTCCTTGGGATTGTTTTCT 0.433 NA 24 290 0 0 0.00278 0 0 KLHL13 90293 broad.mit.edu 37 X 117079444 117079444 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:117079444G>T uc004eql.2 - 2 255 c.193C>A c.(193-195)CCT>ACT p.P65T KLHL13_uc004eqk.2_Missense_Mutation_p.P14T|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.P59T|KLHL13_uc011mtp.1_Missense_Mutation_p.P67T|KLHL13_uc004eqm.2_Missense_Mutation_p.P14T|KLHL13_uc011mtq.1_Missense_Mutation_p.P49T NM_033495 NP_277030 Q9P2N7 KLH13_HUMAN kelch-like 13 65 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex kidney(1)|skin(1) 2 ATGCGTGTAGGTCCTGCCTTG 0.458 NA 7 126 0.00198382 0.00237301 0.001984 1 0 XIAP 331 broad.mit.edu 37 X 123019764 123019764 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:123019764G>T uc010nqu.2 + 2 378 c.252G>T c.(250-252)AGG>AGT p.R84S XIAP_uc004etx.2_Missense_Mutation_p.R84S|XIAP_uc010nqv.2_Intron NM_001167 NP_001158 P98170 XIAP_HUMAN baculoviral IAP repeat-containing protein 4 84 BIR 1. anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding ovary(1)|lung(1) 2 GAAGACACAGGAAAGTATCCC 0.423 NA X-linked_Lymphoproliferative_syndrome 8 182 0.000157383 0.000210004 0.00308 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125298618 125298618 + Silent SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:125298618C>A uc004euk.1 - 1 1317 c.1290G>T c.(1288-1290)GCG>GCT p.A430A NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 430 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GGGTGTAGAGCGCATTGGGGA 0.597 NA 21 197 1.96292e-10 3.76298e-10 0.001523 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125298934 125298934 + Missense_Mutation SNP G G C TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:125298934G>C uc004euk.1 - 1 1001 c.974C>G c.(973-975)TCT>TGT p.S325C NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 325 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GTGGGACTGAGAGCCCACAGC 0.627 NA 9 149 0 0 0.004482 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128890485 128890485 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:128890485C>A uc004eut.1 + 14 1565 c.1321C>A c.(1321-1323)CTG>ATG p.L441M NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 441 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 GAACCGCAAGCTGTCCTCAGA 0.597 NA 8 119 2.17888e-05 3.2646e-05 0.006214 1 0 ZDHHC9 51114 broad.mit.edu 37 X 128975899 128975899 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:128975899T>A uc004euv.2 - 2 392 c.23A>T c.(22-24)AAG>ATG p.K8M ZDHHC9_uc004euw.2_Missense_Mutation_p.K8M|ZDHHC9_uc004eux.1_Missense_Mutation_p.K8M|ZDHHC9_uc004euy.1_Intron NM_001008222 NP_001008223 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC domain containing 9 8 Cytoplasmic (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 TGTCACCTTCTTTCTCACCAC 0.498 NA 10 219 0 0 0.008291 0 0 USP26 83844 broad.mit.edu 37 X 132159958 132159958 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:132159958C>A uc010nrm.1 - 6 2761 c.2291G>T c.(2290-2292)GGC>GTC p.G764V USP26_uc011mvf.1_Missense_Mutation_p.G764V NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 764 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) CCCCTGGGTGCCTGGCTTTGG 0.463 NSCLC(104;342 1621 36940 47097 52632) NA 8 218 1.06961e-07 1.84866e-07 0.00308 1 0 GPC4 2239 broad.mit.edu 37 X 132438835 132438835 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:132438835G>T uc004exc.1 - 7 1422 c.1210C>A c.(1210-1212)CCG>ACG p.P404T GPC4_uc011mvg.1_Missense_Mutation_p.P334T NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 404 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) ACGTTGCTCGGAAGGGAGGAC 0.428 NA 16 232 1.99824e-07 3.4001e-07 0.00499 1 0 GPR112 139378 broad.mit.edu 37 X 135482265 135482265 + Silent SNP A A T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:135482265A>T uc004ezu.1 + 21 8856 c.8565A>T c.(8563-8565)CTA>CTT p.L2855L GPR112_uc010nsb.1_Silent_p.L2650L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2855 Helical; Name=4; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AATTTTGTCTAGTTGGTTGGG 0.338 NA 11 164 0 0 0.000978 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717341 142717341 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:142717341C>A uc004fbx.2 - 2 1960 c.1584G>T c.(1582-1584)TTG>TTT p.L528F SLITRK4_uc004fby.2_Missense_Mutation_p.L528F NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 528 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) GGTTGCCCTCCAAGTCAATCT 0.478 NA 11 274 3.07112e-06 4.88486e-06 0.000978 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904119 144904119 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:144904119C>A uc004fcd.2 + 5 1166 c.176C>A c.(175-177)CCC>CAC p.P59H SLITRK2_uc010nsp.2_Missense_Mutation_p.P59H|SLITRK2_uc010nso.2_Missense_Mutation_p.P59H|SLITRK2_uc011mwq.1_Missense_Mutation_p.P59H|SLITRK2_uc011mwr.1_Missense_Mutation_p.P59H|SLITRK2_uc011mws.1_Missense_Mutation_p.P59H|SLITRK2_uc004fcg.2_Missense_Mutation_p.P59H|SLITRK2_uc011mwt.1_Missense_Mutation_p.P59H NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 59 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CTGCTCCAGCCCCCCCAGTAT 0.428 NA 8 95 0.00307968 0.00362461 0.00308 1 0 MAGEA8 4107 broad.mit.edu 37 X 149013858 149013858 + Missense_Mutation SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:149013858G>A uc004fdw.1 + 3 1027 c.812G>A c.(811-813)CGC>CAC p.R271H NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 271 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GATCCTGTGCGCTACGAGTTC 0.567 NA 11 240 0 0 0.001855 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482377 152482378 + Nonsense_Mutation DNP CC CC AA TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:152482377_152482378CC>AA uc004fhf.2 - 3 853_854 c.633_634GG>TT c.(631-636)GAGGAG>GATTAG p.211_212EE>D* NM_004988 NP_004979 P43355 MAGA1_HUMAN melanoma antigen family A, 1 211_212 MAGE. cytoplasm|plasma membrane central_nervous_system(7)|ovary(1)|lung(1)|breast(1) 10 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGATTTCCTCCTCAGGAGCAT 0.545 NA 6 162 0 0 0.004672 0 0 ATP2B3 492 broad.mit.edu 37 X 152807850 152807850 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:152807850C>G uc004fht.1 + 4 860 c.734C>G c.(733-735)ACG>AGG p.T245R ATP2B3_uc004fhs.1_Missense_Mutation_p.T245R NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 245 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCTCCCTGACGGGCGAGTCT 0.647 NA 6 58 0 0 0.001168 0 0 L1CAM 3897 broad.mit.edu 37 X 153141232 153141232 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:153141232G>A uc004fjb.2 - 1 168 c.60C>T c.(58-60)ATC>ATT p.I20I L1CAM_uc004fjc.2_Silent_p.I20I|L1CAM_uc010nuo.2_Silent_p.I20I|L1CAM_uc004fje.1_Silent_p.I20I NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 20 Extracellular (Potential). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGGGATCTGGATAAGCAGGC 0.642 NA 3 42 0 0 0.004672 0 0 OPN1MW 2652 broad.mit.edu 37 X 153496193 153496193 + Silent SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:153496193G>T uc004fkd.2 + 5 1003 c.921G>T c.(919-921)CCG>CCT p.P307P NM_000513 NP_000504 P04001 OPSG_HUMAN opsin 1 (cone pigments), medium-wave-sensitive 307 Helical; Name=7; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGCCCTGCCGGCCTTCTTTG 0.537 NA 12 81 1.00905e-13 2.06033e-13 0.008871 1 0 TKTL1 8277 broad.mit.edu 37 X 153551614 153551614 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:153551614G>T uc004fkg.2 + 9 1434 c.1248G>T c.(1246-1248)AAG>AAT p.K416N TKTL1_uc011mzl.1_Missense_Mutation_p.K410N|TKTL1_uc011mzm.1_Missense_Mutation_p.K212N|TKTL1_uc004fkh.2_Missense_Mutation_p.K360N NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 416 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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) CCATTCCCAAGTGCACGATCT 0.522 NA 12 185 4.3838e-07 7.28973e-07 0.001855 1 0 LCE5A 254910 broad.mit.edu 37 1 152484167 152484167 + Frame_Shift_Del DEL G G - TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:152484167delG uc001ezy.2 + 2 333 c.157delG c.(157-159)GGTfs p.G53fs CRCT1_uc001ezz.2_5'Flank NM_178438 NP_848525 Q5TCM9 LCE5A_HUMAN late cornified envelope 5A 53 Cys-rich. keratinization ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTGCTGTGGTTCCAGCTC 0.517 NA 12 137 --- --- --- --- NA NA NA NA NA RYR2 6262 broad.mit.edu 37 1 237666676 237666676 + Frame_Shift_Del DEL A A - TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr1:237666676delA uc001hyl.1 + 22 2604 c.2484delA c.(2482-2484)CCAfs p.P828fs NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 828 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGTTCTGCCAAAAGAAAAGT 0.493 NA 10 70 --- --- --- --- NA NA NA NA NA PDCD11 22984 broad.mit.edu 37 10 105198508 105198508 + Frame_Shift_Del DEL A A - TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr10:105198508delA uc001kwy.1 + 27 4055 c.3968delA c.(3967-3969)GAAfs p.E1323fs NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1323 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GACATTAAGGAAGGGCAGCTT 0.507 NA 8 121 --- --- --- --- NA NA NA NA NA VWF 7450 broad.mit.edu 37 12 6078534 6078535 + Frame_Shift_Ins INS - - G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr12:6078534_6078535insG uc001qnn.1 - 45 7821_7822 c.7571_7572insC c.(7570-7572)CCGfs p.P2524fs VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2524 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) AGGGGTTCTCCGGGGAGGCCCA 0.604 NA 9 85 --- --- --- --- NA NA NA NA NA RAMP2 10266 broad.mit.edu 37 17 40914762 40914762 + Frame_Shift_Del DEL C C - TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr17:40914762delC uc002ibg.2 + 4 488 c.420delC c.(418-420)GACfs p.D140fs LOC100190938_uc002ibd.1_5'Flank|LOC100190938_uc002ibe.3_5'Flank|LOC100190938_uc002ibf.3_5'Flank|RAMP2_uc010cyt.2_Frame_Shift_Del_p.D145fs|RAMP2_uc002ibh.2_Frame_Shift_Del_p.T104fs NM_005854 NP_005845 O60895 RAMP2_HUMAN receptor activity modifying protein 2 precursor 140 Extracellular (Potential). intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway coated pit|integral to plasma membrane|lysosome protein transporter activity 0 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0741) Pramlintide(DB01278) CCTTCTCTGACCCCCCAGAGG 0.552 NA 7 89 --- --- --- --- NA NA NA NA NA SDPR 8436 broad.mit.edu 37 2 192700826 192700826 + Frame_Shift_Del DEL C C - TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr2:192700826delC uc002utb.2 - 2 1431 c.1101delG c.(1099-1101)GGGfs p.G367fs NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 367 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TGCTGTCCATCCCCGAGTTAC 0.582 NA 9 298 --- --- --- --- NA NA NA NA NA MYH15 22989 broad.mit.edu 37 3 108102463 108102463 + Frame_Shift_Del DEL T T - TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:108102463delT uc003dxa.1 - 41 5862 c.5805delA c.(5803-5805)AAAfs p.K1935fs NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1935 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 ACTCTCTTGCTTTAATTTTGA 0.368 NA 44 348 --- --- --- --- NA NA NA NA NA STXBP5L 9515 broad.mit.edu 37 3 121126216 121126216 + Frame_Shift_Del DEL G G - TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr3:121126216delG uc003eec.3 + 24 2926 c.2786delG c.(2785-2787)TGGfs p.W929fs STXBP5L_uc011bji.1_Frame_Shift_Del_p.W905fs NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 929 WD 12. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) GAAAAATCTTGGAGAAGGAAA 0.393 NA 21 120 --- --- --- --- NA NA NA NA NA IQGAP2 10788 broad.mit.edu 37 5 75964638 75964638 + Frame_Shift_Del DEL C C - TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr5:75964638delC uc003kek.2 + 23 3034 c.2812delC c.(2812-2814)CTTfs p.L938fs IQGAP2_uc010izv.2_Frame_Shift_Del_p.L491fs|IQGAP2_uc011csv.1_Frame_Shift_Del_p.L434fs|IQGAP2_uc003kel.2_Frame_Shift_Del_p.L434fs NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 938 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ACTTCTCAAGCTTTTTAAAAC 0.333 NA 8 98 --- --- --- --- NA NA NA NA NA PKHD1 5314 broad.mit.edu 37 6 51890920 51890920 + Frame_Shift_Del DEL C C - TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr6:51890920delC uc003pah.1 - 32 3964 c.3688delG c.(3688-3690)GTAfs p.V1230fs PKHD1_uc003pai.2_Frame_Shift_Del_p.V1230fs NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1230 Extracellular (Potential).|IPT/TIG 7. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CCCACAAGTACCCAAACCAAA 0.517 NA 10 104 --- --- --- --- NA NA NA NA NA HOXA2 3199 broad.mit.edu 37 7 27141898 27141899 + Frame_Shift_Ins INS - - T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chr7:27141898_27141899insT uc003syh.2 - 1 496_497 c.221_222insA c.(220-222)AAGfs p.K74fs NM_006735 NP_006726 O43364 HXA2_HUMAN homeobox A2 74 nucleus sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 cggggcTCGGCTTGGGGCGGCC 0.5 NA 5 9 --- --- --- --- NA NA NA NA NA RGAG1 57529 broad.mit.edu 37 X 109695829 109695829 + Frame_Shift_Del DEL G G - TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85b56ce7-b420-433e-a77d-43ef628d685c 4443344e-b4c7-48a7-9b46-05fbe1c32326 g.chrX:109695829delG uc004eor.1 + 3 2230 c.1984delG c.(1984-1986)GCCfs p.A662fs RGAG1_uc011msr.1_Frame_Shift_Del_p.A662fs NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 662 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GACAGACACAGCCTCTGGAGG 0.512 NA 7 107 --- --- --- --- NA NA NA NA NA