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 LOC440563 440563 broad.mit.edu 37 1 13183170 13183170 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:13183170G>C uc010obg.1 - 1 798 c.703C>G c.(703-705)CAT>GAT p.H235D NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 235 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 ATCTTTACATGAGTCTCATCT 0.468 NA 23 244 0 0 0.012319 0 0 GNL2 29889 broad.mit.edu 37 1 38048524 38048524 + Nonsense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:38048524G>C uc001cbk.2 - 7 813 c.650C>G c.(649-651)TCA>TGA p.S217* GNL2_uc010oif.1_Nonsense_Mutation_p.S58* NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 217 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) TACAACATCTGATGAATCTAT 0.373 NA 8 120 0 0 0.00308 0 0 FHL3 2275 broad.mit.edu 37 1 38463709 38463709 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:38463709G>A uc001ccj.2 - 4 514 c.427C>T c.(427-429)CCC>TCC p.P143S FHL3_uc001cck.2_Missense_Mutation_p.P143S|FHL3_uc001ccl.2_Missense_Mutation_p.P143S|FHL3_uc001ccm.2_Missense_Mutation_p.P35S|FHL3_uc009vvl.1_Missense_Mutation_p.P143S NM_004468 NP_004459 Q13643 FHL3_HUMAN four and a half LIM domains 3 143 LIM zinc-binding 2. muscle organ development zinc ion binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCCTTGTCGGGCACAAAAGAA 0.622 NA 5 195 0 0 0.001168 0 0 RLF 6018 broad.mit.edu 37 1 40701980 40701980 + Missense_Mutation SNP A A G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:40701980A>G uc001cfc.3 + 8 1637 c.1606A>G c.(1606-1608)AGA>GGA p.R536G RLF_uc001cfd.3_Missense_Mutation_p.R227G NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 536 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TAAGGAGAAAAGAGACAAAAA 0.358 NA 3 138 0 0 0.004672 0 0 FOXJ3 22887 broad.mit.edu 37 1 42744180 42744180 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:42744180C>G uc001che.2 - 5 520 c.208G>C c.(208-210)GAA>CAA p.E70Q FOXJ3_uc001chf.2_Missense_Mutation_p.E70Q|FOXJ3_uc001chg.2_Missense_Mutation_p.E70Q|FOXJ3_uc001chh.1_Missense_Mutation_p.E70Q NM_014947 NP_055762 Q9UPW0 FOXJ3_HUMAN forkhead box J3 70 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2) 2 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGTTGGACTTCTTCCTGGTCC 0.403 NA 20 308 0 0 0.012319 0 0 LEPRE1 64175 broad.mit.edu 37 1 43215957 43215957 + Silent SNP G G A rs140334418 TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:43215957G>A uc001chv.2 - 11 1733 c.1620C>T c.(1618-1620)AAC>AAT p.N540N LEPRE1_uc001chw.2_Silent_p.N540N|LEPRE1_uc001chx.3_Silent_p.N540N NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 540 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCTCCGTCACGTTGTAGTACA 0.537 NA 4 44 0 0 0.000602 0 0 ZNF691 51058 broad.mit.edu 37 1 43316857 43316857 + Missense_Mutation SNP G G T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:43316857G>T uc001cih.2 + 2 360 c.309G>T c.(307-309)AGG>AGT p.R103S ZNF691_uc001cig.2_Missense_Mutation_p.R76S|ZNF691_uc009vwm.2_Missense_Mutation_p.R96S NM_015911 NP_056995 Q5VV52 ZN691_HUMAN zinc finger protein 691 107 nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTCATCCAAGGCATGAGGCAG 0.512 NA 11 350 3.07112e-06 3.35031e-06 0.010729 1 0 CPT2 1376 broad.mit.edu 37 1 53676597 53676597 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:53676597C>T uc001cvb.3 + 4 1766 c.1251C>T c.(1249-1251)TTC>TTT p.F417F NM_000098 NP_000089 P23786 CPT2_HUMAN carnitine O-palmitoyltransferase precursor 417 Mitochondrial matrix (By similarity). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity 0 L-Carnitine(DB00583)|Perhexiline(DB01074) AACTCAACTTCGAGCTGACTG 0.483 NA 5 59 0 0 0.001984 0 0 LPHN2 23266 broad.mit.edu 37 1 82456080 82456080 + Missense_Mutation SNP T T C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:82456080T>C uc001dit.3 + 21 3644 c.3463T>C c.(3463-3465)TCA>CCA p.S1155P LPHN2_uc001dis.2_Missense_Mutation_p.S135P|LPHN2_uc001diu.2_Missense_Mutation_p.S1155P|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_Silent_p.I1122I|LPHN2_uc001diw.2_Missense_Mutation_p.S782P NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1211 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TTCAGGACATTCACTGAACAA 0.403 NA 13 224 0 0 0.00499 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94639514 94639514 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:94639514G>C uc001dqj.3 - 23 4066 c.3697C>G c.(3697-3699)CCT>GCT p.P1233A ARHGAP29_uc009wdq.1_Intron NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 1233 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTCACATCAGGCAAGCCAAGC 0.473 NA 14 214 0 0 0.004007 0 0 COL11A1 1301 broad.mit.edu 37 1 103348790 103348790 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:103348790C>T uc001dul.2 - 64 5254 c.4936G>A c.(4936-4938)GAG>AAG p.E1646K COL11A1_uc001duk.2_Missense_Mutation_p.E842K|COL11A1_uc001dum.2_Missense_Mutation_p.E1658K|COL11A1_uc001dun.2_Missense_Mutation_p.E1607K|COL11A1_uc009weh.2_Missense_Mutation_p.E1530K NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1646 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATGCAAGTCTCACCACCAGAT 0.378 NA 4 125 0 0 0.009096 0 0 WDR47 22911 broad.mit.edu 37 1 109525326 109525326 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:109525326C>G uc001dwj.2 - 12 2547 c.2171G>C c.(2170-2172)GGA>GCA p.G724A WDR47_uc001dwl.2_Missense_Mutation_p.G732A|WDR47_uc001dwi.2_Missense_Mutation_p.G725A|WDR47_uc010ovf.1_Missense_Mutation_p.G649A NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 724 WD 3. ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TAAAATAGCTCCTCCGCTTTC 0.413 NA 7 198 0 0 0.004482 0 0 CD53 963 broad.mit.edu 37 1 111434033 111434033 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:111434033G>A uc001dzw.2 + 3 174 c.3G>A c.(1-3)ATG>ATA p.M1I CD53_uc001dzx.2_Missense_Mutation_p.M1I|CD53_uc010owa.1_Missense_Mutation_p.M1I|CD53_uc001dzy.2_Missense_Mutation_p.M1I NM_001040033 NP_001035122 P19397 CD53_HUMAN CD53 antigen 1 Cytoplasmic (Potential). signal transduction integral to membrane|plasma membrane 0 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) ATCACGGCATGGGCATGAGTA 0.428 NA 7 123 0 0 0.004482 0 0 HIPK1 204851 broad.mit.edu 37 1 114483059 114483059 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:114483059C>G uc001eem.2 + 2 215 c.54C>G c.(52-54)TTC>TTG p.F18L HIPK1_uc001eel.2_Missense_Mutation_p.F18L|HIPK1_uc001een.2_Missense_Mutation_p.F18L NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CGAGTGCCTTCTGCAGTGCGA 0.463 NA 30 506 0 0 0.007291 0 0 CSDE1 7812 broad.mit.edu 37 1 115273174 115273174 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:115273174C>T uc001efk.2 - 11 1612 c.1146G>A c.(1144-1146)GGG>GGA p.G382G CSDE1_uc001efi.2_Silent_p.G428G|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Silent_p.G351G|CSDE1_uc001efm.2_Silent_p.G397G|CSDE1_uc009wgv.2_Silent_p.G382G|CSDE1_uc001efn.2_Silent_p.G351G NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 382 CSD 5. IKCVDRDVRMFFHFSEILDGNQL -> HPSVWIRECSVCSF PLPVKFWMGTSS (in Ref. 2; AAD27787). male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding ovary(1) 1 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GGAGCTGGTTCCCATCCAGAA 0.418 NA 8 125 0 0 0.00308 0 0 INTS3 65123 broad.mit.edu 37 1 153745528 153745528 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:153745528G>A uc009wom.2 + 30 3243 c.3022G>A c.(3022-3024)GAA>AAA p.E1008K INTS3_uc001fct.2_Missense_Mutation_p.E1008K|INTS3_uc001fcu.2_Missense_Mutation_p.E700K|INTS3_uc001fcv.2_Missense_Mutation_p.E802K|INTS3_uc010peb.1_Missense_Mutation_p.E868K|INTS3_uc001fcw.2_Missense_Mutation_p.E521K|INTS3_uc010pec.1_Missense_Mutation_p.E521K|INTS3_uc001fcy.2_Missense_Mutation_p.E371K|INTS3_uc001fcx.2_Missense_Mutation_p.E305K NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 1009 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCCCAATGCCGAAGAAGAGTC 0.607 NA 36 261 0 0 0.003271 0 0 ADAM15 8751 broad.mit.edu 37 1 155029447 155029447 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:155029447C>T uc001fgr.1 + 11 1119 c.1018C>T c.(1018-1020)CTG>TTG p.L340L ADAM15_uc001fgq.1_Silent_p.L25L|ADAM15_uc010pet.1_Silent_p.L324L|ADAM15_uc010peu.1_Silent_p.L357L|ADAM15_uc001fgt.1_Silent_p.L340L|ADAM15_uc010pev.1_Silent_p.L350L|ADAM15_uc001fgs.1_Silent_p.L340L|ADAM15_uc001fgu.1_Silent_p.L340L|ADAM15_uc001fgw.1_Silent_p.L340L|ADAM15_uc001fgv.1_Silent_p.L340L|ADAM15_uc001fgx.1_Silent_p.L340L|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank NM_207197 NP_997080 Q13444 ADA15_HUMAN a disintegrin and metalloproteinase domain 15 340 Peptidase M12B.|Extracellular (Potential). angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding central_nervous_system(3)|skin(2)|ovary(1) 6 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CACCAGCATCCTGGGAGTCGC 0.627 NA 15 126 0 0 0.003163 0 0 GBA 2629 broad.mit.edu 37 1 155207965 155207965 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:155207965C>T uc001fjh.2 - 6 871 c.721G>A c.(721-723)GGA>AGA p.G241R RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.G128R|GBA_uc010pfx.1_Missense_Mutation_p.G192R|GBA_uc001fji.2_Missense_Mutation_p.G241R|GBA_uc001fjj.2_Missense_Mutation_p.G241R|GBA_uc001fjk.2_Missense_Mutation_p.G241R|GBA_uc001fjl.2_Missense_Mutation_p.G241R|GBA_uc010pfy.1_Missense_Mutation_p.G154R|GBA_uc009wqk.1_Missense_Mutation_p.G154R NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 241 G -> E (in GD).|G -> R (in GD; type 1 and type 2; gene conversion). carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) TAGATGTCTCCGGGCTGTCCC 0.567 NA Gaucher_disease_type_I 8 86 0 0 0.004482 0 0 SPTA1 6708 broad.mit.edu 37 1 158587342 158587342 + Missense_Mutation SNP C C A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:158587342C>A uc001fst.1 - 47 6784 c.6585G>T c.(6583-6585)CAG>CAT p.Q2195H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2195 Spectrin 21. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TTGCTTCCAGCTGAGATTCCA 0.343 NA 6 48 0.000157383 0.000169974 0.00308 1 0 CRP 1401 broad.mit.edu 37 1 159683874 159683874 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:159683874G>A uc001ftw.2 - 2 220 c.116C>T c.(115-117)TCC>TTC p.S39F CRP_uc001ftx.1_Missense_Mutation_p.S39F|CRP_uc001fty.1_5'Flank NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 39 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) TGCTTTGAGGGATACATAGGA 0.473 NA 8 174 0 0 0.006214 0 0 SH2D1B 117157 broad.mit.edu 37 1 162381712 162381712 + Missense_Mutation SNP T T C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:162381712T>C uc001gbz.1 - 1 217 c.95A>G c.(94-96)GAC>GGC p.D32G SH2D1B_uc001gca.1_Missense_Mutation_p.D32G NM_053282 NP_444512 O14796 SH21B_HUMAN SH2 domain containing 1B 32 SH2. pancreas(1) 1 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CGACTCGCTGTCTCTTAAAAG 0.507 NA 10 69 0 0 0.006214 0 0 BAT2L2 23215 broad.mit.edu 37 1 171511180 171511180 + Silent SNP A A G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:171511180A>G uc010pmg.1 + 16 4835 c.4569A>G c.(4567-4569)ACA>ACG p.T1523T BAT2L2_uc010pmh.1_Silent_p.T500T NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 1523 protein C-terminus binding 0 ATGCACAAACAGTTGTAAAGG 0.413 NA 8 78 0 0 0.006214 0 0 LAMC2 3918 broad.mit.edu 37 1 183208591 183208591 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:183208591G>C uc001gqa.2 + 20 3276 c.2962G>C c.(2962-2964)GAC>CAC p.D988H LAMC2_uc001gpz.3_Missense_Mutation_p.D988H|LAMC2_uc010poa.1_Missense_Mutation_p.D688H NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 988 Potential.|Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 AGATGCCAGTGACAAGACCCA 0.537 NA 33 264 0 0 0.012213 0 0 KIF21B 23046 broad.mit.edu 37 1 200972738 200972738 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:200972738C>T uc001gvs.1 - 8 1505 c.1188G>A c.(1186-1188)CAG>CAA p.Q396Q KIF21B_uc001gvr.1_Silent_p.Q396Q|KIF21B_uc009wzl.1_Silent_p.Q396Q|KIF21B_uc010ppn.1_Silent_p.Q396Q|KIF21B_uc001gvt.1_Silent_p.Q254Q NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 396 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 TCAGCTCCATCTGCAGCCGAG 0.577 NA 15 100 0 0 0.003163 0 0 PTPN14 5784 broad.mit.edu 37 1 214568247 214568247 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:214568247G>A uc001hkk.1 - 9 1112 c.841C>T c.(841-843)CAC>TAC p.H281Y PTPN14_uc010pty.1_Missense_Mutation_p.H182Y NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 281 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CTTACCGTGTGAAAGAGGGCA 0.448 Colon(92;557 1424 24372 34121 40073) NA 8 190 0 0 0.00308 0 0 PTPN14 5784 broad.mit.edu 37 1 214568286 214568286 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:214568286G>A uc001hkk.1 - 9 1073 c.802C>T c.(802-804)CTA>TTA p.L268L PTPN14_uc010pty.1_Silent_p.L169L NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 268 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) AGCTCCACTAGAATGGTCGAC 0.428 Colon(92;557 1424 24372 34121 40073) NA 12 234 0 0 0.001855 0 0 WDR64 128025 broad.mit.edu 37 1 241958535 241958535 + Silent SNP C C T rs150522021 TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr1:241958535C>T uc001hzf.1 + 15 1806 c.1653C>T c.(1651-1653)TTC>TTT p.F551F WDR64_uc001hzg.1_Silent_p.F464F NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 998 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TGGAAGGTTTCGTGACTGAAA 0.383 NA 4 160 0 0 0.001984 0 0 NCOA4 8031 broad.mit.edu 37 10 51585290 51585290 + Silent SNP T T C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr10:51585290T>C uc001jis.3 + 8 1592 c.1389T>C c.(1387-1389)CCT>CCC p.P463P PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Silent_p.P479P|NCOA4_uc010qhd.1_Silent_p.P479P|NCOA4_uc010qhe.1_Silent_p.P363P|NCOA4_uc010qhf.1_Silent_p.P297P|NCOA4_uc001jit.2_Silent_p.P463P|NCOA4_uc009xoo.2_Silent_p.P463P NM_001145263 NP_001138735 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 isoform 3 463 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity central_nervous_system(1)|kidney(1) 2 GGCTCTGTCCTAGAAAAGAAG 0.428 NA T RET papillary thyroid 3 260 0 0 0.004672 0 0 TTC18 118491 broad.mit.edu 37 10 75082846 75082846 + Nonsense_Mutation SNP C C A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr10:75082846C>A uc009xrc.2 - 10 1118 c.997G>T c.(997-999)GAA>TAA p.E333* TTC18_uc001jty.2_Nonsense_Mutation_p.E333*|TTC18_uc009xrd.1_Nonsense_Mutation_p.E141* NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 333 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) AGCTGAGCTTCTTCATCAGTC 0.289 NA 4 125 0.00909568 0.00972607 0.009096 1 0 CYP26C1 340665 broad.mit.edu 37 10 94828109 94828109 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr10:94828109G>A uc010qns.1 + 6 1224 c.1224G>A c.(1222-1224)ATG>ATA p.M408I CYP26C1_uc009xud.2_RNA NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, 408 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1) 1 Colorectal(252;0.122) GGAGCGTGATGTATAGCATCC 0.662 NA 12 108 0 0 0.010729 0 0 COL17A1 1308 broad.mit.edu 37 10 105796299 105796299 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr10:105796299C>T uc001kxr.2 - 48 3538 c.3369G>A c.(3367-3369)CTG>CTA p.L1123L NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 1123 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGTCCAAAGACAGGAGGGACC 0.597 NA 12 42 0 0 0.001855 0 0 C10orf79 80217 broad.mit.edu 37 10 105926410 105926410 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr10:105926410C>T uc001kxw.2 - 23 2991 c.2875G>A c.(2875-2877)GAT>AAT p.D959N C10orf79_uc009xxq.2_Missense_Mutation_p.D267N NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 959 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TCTTCTTCATCATCCTCTTCA 0.398 NA 10 229 0 0 0.008291 0 0 SHOC2 8036 broad.mit.edu 37 10 112724821 112724821 + Splice_Site SNP T T A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr10:112724821T>A uc001kzl.3 + 2 1052 c.703_splice c.e2+2 p.G235_splice SHOC2_uc009xxx.2_Splice_Site_p.G235_splice|SHOC2_uc010qrg.1_Intron|SHOC2_uc001kzn.2_Splice_Site_p.G235_splice NM_007373 NP_031399 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity ovary(1)|skin(1) 2 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) CTGAAATTGGTAAGAGGCCTT 0.328 NA 20 28 0 0 0.008871 0 0 SHOC2 8036 broad.mit.edu 37 10 112764399 112764399 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr10:112764399G>C uc001kzl.3 + 5 1357 c.1008G>C c.(1006-1008)TTG>TTC p.L336F SHOC2_uc009xxx.2_Missense_Mutation_p.L336F|SHOC2_uc010qrg.1_5'UTR|SHOC2_uc001kzn.2_Missense_Mutation_p.L290F NM_007373 NP_031399 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog 336 LRR 11. fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity ovary(1)|skin(1) 2 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) TGAATAGTTTGACCTTAGCTA 0.338 NA 4 70 0 0 0.009096 0 0 GLRX3 10539 broad.mit.edu 37 10 131973145 131973145 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr10:131973145C>T uc001lkm.1 + 9 861 c.839C>T c.(838-840)ACA>ATA p.T280I GLRX3_uc001lkn.1_Missense_Mutation_p.T280I|GLRX3_uc001lko.2_RNA NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 280 Glutaredoxin 2. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) GAATATGAAACATTCGATATA 0.323 NA 16 139 0 0 0.004007 0 0 MTG1 92170 broad.mit.edu 37 10 135233655 135233655 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr10:135233655G>C uc001lnd.2 + 11 1095 c.991G>C c.(991-993)GAG>CAG p.E331Q MTG1_uc010qve.1_Missense_Mutation_p.E196Q NM_138384 NP_612393 Q9BT17 MTG1_HUMAN GTP_binding protein precursor 331 mitochondrion GTP binding|protein binding skin(1) 1 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06) CCCCCCGGCTGAGACTTTGCC 0.662 NA 9 86 0 0 0.004482 0 0 OR51D1 390038 broad.mit.edu 37 11 4661548 4661548 + Silent SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:4661548C>G uc010qyk.1 + 1 528 c.528C>G c.(526-528)CTC>CTG p.L176L NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTTCATCCTCAAGTGGTTGT 0.507 NA 19 282 0 0 0.00278 0 0 RRP8 23378 broad.mit.edu 37 11 6623441 6623441 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:6623441G>C uc001med.2 - 2 183 c.104C>G c.(103-105)TCC>TGC p.S35C ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 35 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 GCGGCGCTTGGAGCCCTGGAG 0.562 NA 7 156 0 0 0.00308 0 0 OR10A5 144124 broad.mit.edu 37 11 6867517 6867517 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:6867517G>C uc001met.1 + 1 604 c.604G>C c.(604-606)GTC>CTC p.V202L NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTACGCCATCGTCGGAACCAT 0.512 Pancreas(44;21 1072 25662 28041 45559) NA 4 252 0 0 0.009096 0 0 ASCL3 56676 broad.mit.edu 37 11 8959371 8959371 + Missense_Mutation SNP T T G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:8959371T>G uc001mhd.1 - 2 398 c.338A>C c.(337-339)TAT>TCT p.Y113S NM_020646 NP_065697 Q9NQ33 ASCL3_HUMAN ASCL3 112 Helix-loop-helix motif. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding 0 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) GAGCTGGGCGTAGCCTTCATT 0.527 NA 4 130 0 0 0.001984 0 0 TPH1 7166 broad.mit.edu 37 11 18048086 18048086 + Missense_Mutation SNP A A G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:18048086A>G uc001mnp.2 - 6 780 c.754T>C c.(754-756)TGC>CGC p.C252R TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 252 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) TATTGAGTGCAGTGAAAAACT 0.408 NA 8 103 0 0 0.004482 0 0 FIBIN 387758 broad.mit.edu 37 11 27016133 27016133 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:27016133C>T uc001mrd.2 + 1 506 c.60C>T c.(58-60)TTC>TTT p.F20F NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog precursor 20 extracellular region|Golgi apparatus 0 AAGGCTACTTCGATGGCCCCC 0.542 NA 22 138 0 0 0.00333 0 0 MYBPC3 4607 broad.mit.edu 37 11 47362583 47362583 + Missense_Mutation SNP T T C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:47362583T>C uc001nfa.3 - 19 1953 c.1898A>G c.(1897-1899)GAG>GGG p.E633G MYBPC3_uc010rhl.1_RNA NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 632 Ig-like C2-type 4. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) AATCTTGACCTCTGCAAGAGA 0.637 NA 4 12 0 0 0.001168 0 0 OR4X2 119764 broad.mit.edu 37 11 48266743 48266743 + Missense_Mutation SNP A A C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:48266743A>C uc001ngs.1 + 1 88 c.88A>C c.(88-90)ATT>CTT p.I30L NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTACACAGCAATTGTGCTGGG 0.448 NA 4 276 0 0 0.009096 0 0 PRG3 10394 broad.mit.edu 37 11 57144338 57144338 + Missense_Mutation SNP G G T rs141251058 byFrequency TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:57144338G>T uc001njv.1 - 6 773 c.663C>A c.(661-663)TTC>TTA p.F221L NM_006093 NP_006084 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 precursor 221 C-type lectin. basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding 0 AGGAGCAGACGAAGGGCAGTT 0.602 Melanoma(154;1456 2519 19358 45229) NA 18 281 1.2644e-06 1.38635e-06 0.010504 1 0 PRG2 5553 broad.mit.edu 37 11 57156549 57156549 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:57156549G>A uc001njz.2 - 2 327 c.300C>T c.(298-300)GGC>GGT p.G100G PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Silent_p.G100G|PRG2_uc001nkb.2_Silent_p.G100G|PRG2_uc001nkd.2_Silent_p.G100G|PRG2_uc001nkc.2_Silent_p.G100G|PRG2_uc001nke.2_Silent_p.G380G NM_002728 NP_002719 P13727 PRG2_HUMAN proteoglycan 2 preproprotein 100 defense response to bacterium|immune response extracellular region|transport vesicle heparin binding|sugar binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Sargramostim(DB00020) ACCCAGGGATGCCCACCACTT 0.542 NA 14 143 0 0 0.001855 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958704 57958704 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:57958704G>A uc010rka.1 + 1 742 c.742G>A c.(742-744)GTC>ATC p.V248I NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 248 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) CCTCACTGCCGTCGCTCTTTT 0.577 NA 5 138 0 0 0.006214 0 0 SLC22A8 9376 broad.mit.edu 37 11 62760896 62760896 + Nonsense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:62760896C>T uc001nwo.2 - 10 1665 c.1529G>A c.(1528-1530)TGG>TAG p.W510* SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Nonsense_Mutation_p.W510*|SLC22A8_uc009yom.2_Nonsense_Mutation_p.W387*|SLC22A8_uc010rmm.1_Nonsense_Mutation_p.W419*|SLC22A8_uc009yon.2_Nonsense_Mutation_p.W510* NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 510 Extracellular (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 AGTGACTGACCAGTTTTCCAG 0.617 NA 10 123 0 0 0.006214 0 0 FZD4 8322 broad.mit.edu 37 11 86662507 86662507 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:86662507C>G uc001pce.2 - 2 1597 c.1291G>C c.(1291-1293)GAA>CAA p.E431Q PRSS23_uc001pcc.1_RNA NM_012193 NP_036325 Q9ULV1 FZD4_HUMAN frizzled 4 precursor 431 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding large_intestine(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATCAGTCTTTCTAACTTGTCT 0.413 NA 3 299 0 0 0.004672 0 0 TYR 7299 broad.mit.edu 37 11 88911903 88911903 + Missense_Mutation SNP A A C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:88911903A>C uc001pcs.2 + 1 864 c.782A>C c.(781-783)AAC>ACC p.N261T NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 261 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) ACAAATCCTAACTTACTCAGC 0.453 NA Oculocutaneous_Albinism 16 99 0 0 0.007413 0 0 MAML2 84441 broad.mit.edu 37 11 95724744 95724744 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:95724744C>T uc001pfw.1 - 3 3568 c.2283G>A c.(2281-2283)CAG>CAA p.Q761Q NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 761 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TGATCTGCCTCTGTAGAGTCT 0.453 NA T MECT1|CRTC3 salivary gland mucoepidermoid 5 195 0 0 0.001168 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120322385 120322385 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr11:120322385G>C uc001pxl.1 + 22 2015 c.2008G>C c.(2008-2010)GCT>CCT p.A670P ARHGEF12_uc009zat.2_Missense_Mutation_p.A651P|ARHGEF12_uc010rzn.1_Missense_Mutation_p.A567P|ARHGEF12_uc009zau.1_Missense_Mutation_p.A567P NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 670 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GTCTTCTGTAGCTTCAGGGGC 0.463 NA T MLL AML 5 42 0 0 0.001984 0 0 Unknown 0 broad.mit.edu 37 12 92018 92018 + Missense_Mutation SNP T T C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr12:92018T>C uc010sdi.1 - 2 320 c.292A>G c.(292-294)AGT>GGT p.S98G uc010sdj.1_RNA SubName: Full=DEAD/H box polypeptide 11 like 11; NA GACTCCACACTCTCCTGGGTT 0.592 NA 2 7 0 0 0.004672 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6424195 6424195 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr12:6424195G>A uc001qnr.2 + 4 467 c.319G>A c.(319-321)GAG>AAG p.E107K PLEKHG6_uc001qns.2_Missense_Mutation_p.E107K|PLEKHG6_uc010sew.1_Missense_Mutation_p.E107K|PLEKHG6_uc010sex.1_Missense_Mutation_p.E75K NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN pleckstrin homology domain-containing family G 107 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity large_intestine(1)|skin(1) 2 CCATGAGCTGGAGGTGAGGCT 0.642 NA 12 167 0 0 0.004007 0 0 A2M 2 broad.mit.edu 37 12 9232408 9232408 + Missense_Mutation SNP T T C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr12:9232408T>C uc001qvk.1 - 24 2971 c.2858A>G c.(2857-2859)GAC>GGC p.D953G A2M_uc001qvj.1_5'UTR|A2M_uc009zgk.1_Missense_Mutation_p.D803G NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 953 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GCCTAATATGTCTCCTAGAGA 0.393 NA 5 29 0 0 0.001168 0 0 OR6C4 341418 broad.mit.edu 37 12 55945365 55945365 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr12:55945365G>C uc010spp.1 + 1 355 c.355G>C c.(355-357)GAT>CAT p.D119H NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, 119 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CATGTCTTATGATCGTTATGT 0.443 NA 6 201 0 0 0.00308 0 0 SPRYD4 283377 broad.mit.edu 37 12 56862988 56862988 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr12:56862988C>G uc001sli.3 + 2 326 c.251C>G c.(250-252)ACC>AGC p.T84S SPRYD4_uc010sqo.1_Intron NM_207344 NP_997227 Q8WW59 SPRY4_HUMAN SPRY domain containing 4 84 B30.2/SPRY. nucleus 0 ACAGCGGTCACCAGTGGCAGA 0.582 NA 11 202 0 0 0.004007 0 0 LRP1 4035 broad.mit.edu 37 12 57594926 57594926 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr12:57594926G>A uc001snd.2 + 65 10801 c.10335G>A c.(10333-10335)GAG>GAA p.E3445E NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3445 Extracellular (Potential).|LDL-receptor class A 23. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGGAGGATGAGAGGGACTGCC 0.592 NA 16 230 0 0 0.00499 0 0 DCTN2 10540 broad.mit.edu 37 12 57927771 57927771 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr12:57927771G>A uc001som.1 - 7 766 c.634C>T c.(634-636)CGG>TGG p.R212W DCTN2_uc009zpu.1_Missense_Mutation_p.R217W|DCTN2_uc009zpv.1_Missense_Mutation_p.R125W|DCTN2_uc009zpw.1_Missense_Mutation_p.R125W|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_Missense_Mutation_p.R125W|DCTN2_uc001sop.1_Missense_Mutation_p.R125W|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Missense_Mutation_p.R212W NM_006400 NP_006391 Q13561 DCTN2_HUMAN dynactin 2 212 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding ovary(1) 1 TGCTCAGGCCGAGAATGTAGT 0.517 NA 10 114 0 0 0.006214 0 0 TMPO 7112 broad.mit.edu 37 12 98941397 98941397 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr12:98941397G>A uc001tfj.2 + 9 1363 c.1126G>A c.(1126-1128)GAA>AAA p.E376K TMPO_uc001tfk.2_Missense_Mutation_p.E267K|TMPO_uc001tfl.2_RNA NM_001032283 NP_001027454 P42167 LAP2B_HUMAN thymopoietin isoform beta 376 Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding ovary(2) 2 CCGGCCATTAGAACTCAGTGA 0.418 NA 9 93 0 0 0.008291 0 0 ALDH2 217 broad.mit.edu 37 12 112230500 112230500 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr12:112230500G>A uc001tst.2 + 9 1438 c.997G>A c.(997-999)GAT>AAT p.D333N ALDH2_uc010syi.1_Missense_Mutation_p.D286N|ALDH2_uc009zvy.2_Missense_Mutation_p.D257N NM_000690 NP_000681 P05091 ALDH2_HUMAN mitochondrial aldehyde dehydrogenase 2 333 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity skin(2)|ovary(1)|central_nervous_system(1) 4 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) GGACATCTATGATGAGTTTGT 0.632 NA T HMGA2 leiomyoma 3 22 0 0 0.009096 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138200 126138200 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr12:126138200C>T uc001uhe.1 + 9 2189 c.2181C>T c.(2179-2181)GTC>GTT p.V727V TMEM132B_uc001uhf.1_Silent_p.V239V NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 727 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CTGTTACTGTCTCATCATTGG 0.423 NA 61 166 0 0 0.01441 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24200845 24200845 + Splice_Site SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr13:24200845G>C uc001uov.1 + 5 424 c.360_splice c.e5-1 p.G120_splice TNFRSF19_uc001uot.2_Splice_Site_p.G120_splice|TNFRSF19_uc010tcu.1_Splice_Site|TNFRSF19_uc001uow.2_Splice_Site_p.G120_splice NM_018647 NP_061117 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity kidney(1)|skin(1) 2 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TTCTCTTCTAGATTTTATAGG 0.428 NA 6 47 0 0 0.001168 0 0 ATP12A 479 broad.mit.edu 37 13 25284699 25284699 + Silent SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr13:25284699G>C uc001upp.2 + 20 3052 c.2865G>C c.(2863-2865)CGG>CGC p.R955R ATP12A_uc010aaa.2_Silent_p.R961R NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 955 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) ggaaaACCCGGAGGAATTCCA 0.433 Pancreas(156;1582 1935 18898 22665 26498) NA 16 138 0 0 0.00499 0 0 TRPC4 7223 broad.mit.edu 37 13 38357157 38357157 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr13:38357157C>G uc001uws.2 - 2 549 c.314G>C c.(313-315)AGA>ACA p.R105T TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.R105T|TRPC4_uc010tey.1_Missense_Mutation_p.R105T|TRPC4_uc010abw.2_Missense_Mutation_p.R105T|TRPC4_uc010abx.2_Missense_Mutation_p.R105T|TRPC4_uc010aby.2_Missense_Mutation_p.R105T NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 105 ANK 3.|Cytoplasmic (Potential).|Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GACTTCTTTTCTGATAGCATG 0.274 NA 4 60 0 0 0.000602 0 0 HECTD1 25831 broad.mit.edu 37 14 31602521 31602521 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr14:31602521C>T uc001wrc.1 - 24 4334 c.3845G>A c.(3844-3846)AGA>AAA p.R1282K HECTD1_uc001wrd.1_Missense_Mutation_p.R797K NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1282 MIB/HERC2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ATCCAGGCCTCTGATAACACG 0.502 NA 13 75 0 0 0.001855 0 0 AKAP6 9472 broad.mit.edu 37 14 33293407 33293407 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr14:33293407G>C uc001wrq.2 + 13 6558 c.6388G>C c.(6388-6390)GAA>CAA p.E2130Q NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 2130 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CAATTACATAGAAGAGAAAAG 0.463 Melanoma(49;821 1200 7288 13647 42351) NA 10 108 0 0 0.010729 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36190907 36190907 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr14:36190907C>T uc001wti.2 - 16 2644 c.2253G>A c.(2251-2253)CGG>CGA p.R751R RALGAPA1_uc001wtj.2_Silent_p.R751R|RALGAPA1_uc010tpv.1_Silent_p.R751R|RALGAPA1_uc010tpw.1_Silent_p.R751R|RALGAPA1_uc001wtk.1_Silent_p.R602R NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 751 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 CAGTTTTTTGCCGTACTATAC 0.428 NA 4 205 0 0 0.009096 0 0 GCH1 2643 broad.mit.edu 37 14 55312565 55312565 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr14:55312565C>G uc001xbh.1 - 5 708 c.547G>C c.(547-549)GAG>CAG p.E183Q GCH1_uc001xbi.1_Missense_Mutation_p.E183Q|GCH1_uc001xbj.1_Missense_Mutation_p.E183Q|GCH1_uc001xbk.1_Missense_Mutation_p.E183Q|GCH1_uc010aol.1_Intron|GCH1_uc001xbl.1_Missense_Mutation_p.E183Q NM_001024024 NP_001019195 P30793 GCH1_HUMAN GTP cyclohydrolase 1 isoform 1 183 dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding skin(1) 1 GTAAGGCGCTCCTGAACTGTG 0.453 Pancreas(198;1245 2204 4807 21567 38372) NA 10 137 0 0 0.008291 0 0 EXD2 55218 broad.mit.edu 37 14 69697274 69697274 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr14:69697274C>G uc001xkt.2 + 6 960 c.301C>G c.(301-303)CGT>GGT p.R101G EXD2_uc001xku.2_5'UTR|EXD2_uc001xkv.2_Missense_Mutation_p.R226G|EXD2_uc001xkw.2_Missense_Mutation_p.R101G|EXD2_uc001xkx.2_RNA|EXD2_uc010aqt.2_Missense_Mutation_p.R226G|EXD2_uc010tte.1_Missense_Mutation_p.R226G|EXD2_uc001xky.2_Missense_Mutation_p.R101G NM_018199 NP_060669 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 101 3'-5' exonuclease. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 CCTTCTACTTCGTTGCAGCAA 0.408 NA 18 188 0 0 0.008871 0 0 TMEM63C 57156 broad.mit.edu 37 14 77685839 77685839 + Splice_Site SNP A A G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr14:77685839A>G uc001xtf.2 + 4 363 c.151_splice c.e4-2 p.L51_splice TMEM63C_uc010asq.1_Splice_Site_p.L51_splice NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CCTGGCCTGTAGCTCGTCCTT 0.597 NA 3 185 0 0 0.00245 0 0 SERPINA5 5104 broad.mit.edu 37 14 95058516 95058516 + Silent SNP C C A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr14:95058516C>A uc001ydm.2 + 6 1371 c.1161C>A c.(1159-1161)CCC>CCA p.P387P SERPINA3_uc001ydo.3_Intron NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 387 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TCAACAGGCCCTTTCTGATGT 0.557 NA 97 603 9.50263e-46 1.0803e-45 0.01441 1 0 OCA2 4948 broad.mit.edu 37 15 28260068 28260068 + Missense_Mutation SNP C C A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr15:28260068C>A uc001zbh.3 - 9 1008 c.898G>T c.(898-900)GTG>TTG p.V300L OCA2_uc010ayv.2_Missense_Mutation_p.V300L NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 300 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CTGATGGACACCGTCTCTCTG 0.537 NA Oculocutaneous_Albinism 9 25 2.31682e-05 2.51474e-05 0.003163 1 0 MYO5A 4644 broad.mit.edu 37 15 52645805 52645805 + Silent SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr15:52645805G>C uc002aby.2 - 27 3862 c.3618C>G c.(3616-3618)CTC>CTG p.L1206L MYO5A_uc002abx.3_Silent_p.L1206L|MYO5A_uc010ugd.1_5'Flank|MYO5A_uc002aca.1_5'Flank|MYO5A_uc002acb.1_5'Flank|MYO5A_uc002acc.1_5'Flank NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1206 Potential. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CCATTACCTTGAGTGACTCAT 0.368 NA 5 111 0 0 0.001168 0 0 SRL 6345 broad.mit.edu 37 16 4242554 4242554 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr16:4242554C>T uc002cvz.3 - 6 1035 c.1022G>A c.(1021-1023)CGC>CAC p.R341H SRL_uc002cvy.3_RNA NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN sarcalumenin 800 sarcoplasmic reticulum lumen GTP binding|GTPase activity ovary(3)|skin(2) 5 GGCGTGGATGCGGACCCGGAT 0.512 NA 6 310 0 0 0.001984 0 0 NOMO2 283820 broad.mit.edu 37 16 18555015 18555015 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr16:18555015G>C uc002dfe.2 - 7 731 c.659C>G c.(658-660)TCT>TGT p.S220C NOMO2_uc002dff.2_Missense_Mutation_p.S220C|NOMO2_uc010bvx.2_Missense_Mutation_p.S53C NM_001004060 NP_001004060 Q5JPE7 NOMO2_HUMAN nodal modulator 2 isoform 1 220 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding skin(1) 1 GACAGAGCCAGACACATTGTA 0.328 NA 4 43 0 0 0.00308 0 0 ATXN2L 11273 broad.mit.edu 37 16 28844383 28844383 + Nonsense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr16:28844383C>T uc002drc.2 + 14 1831 c.1663C>T c.(1663-1665)CAG>TAG p.Q555* uc010vct.1_Intron|ATXN2L_uc010byl.1_Nonsense_Mutation_p.Q531*|ATXN2L_uc002drb.2_Nonsense_Mutation_p.Q555*|ATXN2L_uc002dqy.2_Nonsense_Mutation_p.Q555*|ATXN2L_uc002dra.2_Nonsense_Mutation_p.Q555*|ATXN2L_uc002dqz.2_Nonsense_Mutation_p.Q555*|ATXN2L_uc010vdb.1_Nonsense_Mutation_p.Q561*|ATXN2L_uc002dre.2_Nonsense_Mutation_p.Q555*|ATXN2L_uc002drf.2_5'UTR|ATXN2L_uc002drg.2_5'Flank NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 555 membrane upper_aerodigestive_tract(1)|ovary(1) 2 CTTCCAGCTTCAGCCCAGTAG 0.493 NA 6 280 0 0 0.00308 0 0 PHLPP2 23035 broad.mit.edu 37 16 71713353 71713353 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr16:71713353C>T uc002fax.2 - 6 982 c.976G>A c.(976-978)GAG>AAG p.E326K PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.E326K|PHLPP2_uc002fay.1_Missense_Mutation_p.E326K NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 326 LRR 4. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 AGGTTGAGCTCAGTCAGGGTA 0.398 NA 10 96 0 0 0.008291 0 0 C17orf39 79018 broad.mit.edu 37 17 17948480 17948480 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr17:17948480C>G uc002gsg.1 + 2 626 c.458C>G c.(457-459)TCT>TGT p.S153C NM_024052 NP_076957 Q8IVV7 CQ039_HUMAN hypothetical protein LOC79018 153 skin(1) 1 all_neural(463;0.228) ACGGGGAACTCTTACCTTTGT 0.468 NA 6 68 0 0 0.004482 0 0 ALDH3A1 218 broad.mit.edu 37 17 19641686 19641686 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr17:19641686G>C uc010cqu.2 - 9 1627 c.1297C>G c.(1297-1299)CTG>GTG p.L433V ALDH3A1_uc010vzd.1_Missense_Mutation_p.L433V|ALDH3A1_uc002gwj.2_Missense_Mutation_p.L433V|ALDH3A1_uc010cqv.2_Missense_Mutation_p.L432V|ALDH3A1_uc002gwk.2_Missense_Mutation_p.L550V|ALDH3A1_uc002gwl.1_Missense_Mutation_p.L360V NM_001135168 NP_001128640 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3A1 433 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase ovary(1)|pancreas(1) 2 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) TCATTCATCAGAGGCCTCACC 0.622 NA 39 213 0 0 0.01441 0 0 CNP 1267 broad.mit.edu 37 17 40125572 40125572 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr17:40125572G>A uc002hyl.1 + 4 1040 c.896G>A c.(895-897)CGG>CAG p.R299Q CNP_uc010wfz.1_Missense_Mutation_p.R176Q|CNP_uc002hym.1_Missense_Mutation_p.R279Q|CNP_uc010wga.1_Missense_Mutation_p.R64Q|CNP_uc002hyn.1_Missense_Mutation_p.R64Q NM_033133 NP_149124 P09543 CN37_HUMAN 2',3'-cyclic nucleotide 3' phosphodiesterase 299 cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission extracellular space|melanosome 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding 0 all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143) UCEC - Uterine corpus endometrioid carcinoma (308;0.171) ACTGGGGCCCGGGTGGAGTTA 0.587 NA 6 351 0 0 0.001984 0 0 ABCC3 8714 broad.mit.edu 37 17 48738458 48738458 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr17:48738458C>G uc002isl.2 + 8 1061 c.981C>G c.(979-981)ATC>ATG p.I327M ABCC3_uc002isk.3_Missense_Mutation_p.I327M|ABCC3_uc002ism.2_5'Flank NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 327 Extracellular (By similarity).|ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCTCCTTCATCAATCCACAGC 0.592 NA 3 79 0 0 0.004672 0 0 CCDC47 57003 broad.mit.edu 37 17 61843460 61843460 + Nonsense_Mutation SNP C C A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr17:61843460C>A uc002jbs.3 - 2 412 c.76G>T c.(76-78)GAG>TAG p.E26* CCDC47_uc010ddx.2_Nonsense_Mutation_p.E26*|CCDC47_uc002jbt.2_Nonsense_Mutation_p.E26* NM_020198 NP_064583 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 precursor 26 integral to membrane protein binding 0 TCCTCATCCTCAAAATCATCA 0.408 NA 18 225 1.01871e-10 1.14011e-10 0.008871 1 0 AZI1 22994 broad.mit.edu 37 17 79168681 79168681 + Missense_Mutation SNP A A G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr17:79168681A>G uc002jzp.1 - 17 2317 c.2117T>C c.(2116-2118)GTC>GCC p.V706A AZI1_uc002jzm.1_Missense_Mutation_p.V133A|AZI1_uc002jzn.1_Missense_Mutation_p.V703A|AZI1_uc002jzo.1_Missense_Mutation_p.V703A|AZI1_uc010wum.1_Missense_Mutation_p.V706A|AZI1_uc002jzq.2_5'Flank NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 706 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TCGGACAGTGACCTCCTTGAT 0.552 NA 46 475 0 0 0.01441 0 0 DSC1 1823 broad.mit.edu 37 18 28712647 28712647 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr18:28712647G>A uc002kwn.2 - 14 2384 c.2122C>T c.(2122-2124)CTG>TTG p.L708L DSC1_uc002kwm.2_Silent_p.L708L NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 708 Helical; (Potential). 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) CATGTAAACAGAATACCTAAA 0.303 NA 6 28 0 0 0.001168 0 0 MOCOS 55034 broad.mit.edu 37 18 33775270 33775270 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr18:33775270C>T uc002kzq.3 + 2 216 c.193C>T c.(193-195)CTC>TTC p.L65F NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 65 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) CCAGAGCCAGCTCGAAAGCTT 0.393 NA 13 118 0 0 0.003163 0 0 RNF152 220441 broad.mit.edu 37 18 59483267 59483267 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr18:59483267C>T uc002lih.1 - 2 842 c.430G>A c.(430-432)GGT>AGT p.G144S NM_173557 NP_775828 Q8N8N0 RN152_HUMAN ring finger protein 152 144 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1) 1 Colorectal(73;0.186) GGAGCCCCACCTTGCAGAGGC 0.672 NA 4 61 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9057667 9057667 + Nonsense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr19:9057667G>A uc002mkp.2 - 3 29983 c.29779C>T c.(29779-29781)CAG>TAG p.Q9927* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9929 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 ATCGTGGACTGATCAGAGTCA 0.448 NA 10 287 0 0 0.010504 0 0 ZNF99 7652 broad.mit.edu 37 19 22941400 22941400 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr19:22941400G>A uc010xrh.1 - 5 1038 c.1038C>T c.(1036-1038)TTC>TTT p.F346F 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) TAAGGGCTGAGAAACGCTTAA 0.368 NA 6 46 0 0 0.001168 0 0 ZNF536 9745 broad.mit.edu 37 19 30936293 30936293 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr19:30936293G>A uc002nsu.1 + 2 1962 c.1824G>A c.(1822-1824)TTG>TTA p.L608L ZNF536_uc010edd.1_Silent_p.L608L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 608 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GGGATTTTTTGTCACACGGGC 0.552 NA 22 166 0 0 0.010504 0 0 ALKBH6 84964 broad.mit.edu 37 19 36501474 36501474 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr19:36501474C>T uc002oct.2 - 6 548 c.448G>A c.(448-450)GAA>AAA p.E150K C19orf46_uc002ocr.1_5'Flank|C19orf46_uc002ocs.1_5'Flank|C19orf46_uc002ocq.1_5'Flank|C19orf46_uc010een.1_5'Flank|ALKBH6_uc002ocv.1_Missense_Mutation_p.E178K|ALKBH6_uc002ocx.1_Missense_Mutation_p.E81K|ALKBH6_uc002ocw.1_3'UTR|ALKBH6_uc010eeo.1_Missense_Mutation_p.E150K|ALKBH6_uc010eep.1_3'UTR NM_032878 NP_116267 Q3KRA9 ALKB6_HUMAN alkB, alkylation repair homolog 6 isoform 2 150 Fe2OG dioxygenase. cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCCACCTGTTCTGTAGGGTCA 0.622 NA 8 124 0 0 0.008291 0 0 ZNF227 7770 broad.mit.edu 37 19 44740468 44740468 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr19:44740468G>C uc002oyu.2 + 6 2090 c.1885G>C c.(1885-1887)GAG>CAG p.E629Q ZNF227_uc010xwu.1_Missense_Mutation_p.E578Q|ZNF227_uc002oyv.2_Missense_Mutation_p.E629Q|ZNF227_uc010xwv.1_Missense_Mutation_p.E578Q|ZNF227_uc010xww.1_Missense_Mutation_p.E550Q|ZNF227_uc002oyw.2_Missense_Mutation_p.E601Q|ZNF227_uc010ejh.2_Missense_Mutation_p.E622Q|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 629 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) CCATACTGGAGAGAAGCCATA 0.463 NA 4 63 0 0 0.009096 0 0 NLRP13 126204 broad.mit.edu 37 19 56424091 56424091 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr19:56424091C>G uc010ygg.1 - 5 1117 c.1092G>C c.(1090-1092)AAG>AAC p.K364N NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 364 NACHT. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAAACCAGGTCTTGATCGTGA 0.458 NA 22 153 0 0 0.014323 0 0 SDC1 6382 broad.mit.edu 37 2 20403660 20403660 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:20403660C>G uc002rdo.1 - 3 840 c.541G>C c.(541-543)GAG>CAG p.E181Q SDC1_uc002rdp.1_Missense_Mutation_p.E181Q|SDC1_uc010exv.2_Intron NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 181 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CCTCCATCCTCTGTGTGGGGA 0.657 NA 25 104 0 0 0.008361 0 0 ABHD1 84696 broad.mit.edu 37 2 27352658 27352658 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:27352658G>C uc002rit.2 + 6 814 c.654G>C c.(652-654)CAG>CAC p.Q218H ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA NM_032604 NP_115993 Q96SE0 ABHD1_HUMAN abhydrolase domain-containing protein 1 218 integral to membrane carboxylesterase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGCCAGGCAGGCTGCAGGGC 0.542 NA 23 104 0 0 0.007291 0 0 SNRNP200 23020 broad.mit.edu 37 2 96956196 96956196 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:96956196G>A uc002svu.2 - 20 2696 c.2610C>T c.(2608-2610)ATC>ATT p.I870I SNRNP200_uc002svw.1_5'Flank NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 870 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 CATGAGATGTGATGAGTATGC 0.483 NA 14 173 0 0 0.003163 0 0 SNRNP200 23020 broad.mit.edu 37 2 96956427 96956427 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:96956427G>A uc002svu.2 - 19 2634 c.2548C>T c.(2548-2550)CTG>TTG p.L850L SNRNP200_uc002svw.1_5'Flank NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 850 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 TGTACCTGCAGAATGTCCAGT 0.502 NA 27 346 0 0 0.005443 0 0 TMEM177 80775 broad.mit.edu 37 2 120439041 120439041 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:120439041C>T uc010flg.1 + 2 1085 c.612C>T c.(610-612)TTC>TTT p.F204F TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.F204F|TMEM177_uc002tmd.2_Silent_p.F204F|TMEM177_uc010flh.2_Intron NM_001105198 NP_001098668 Q53S58 TM177_HUMAN transmembrane protein 177 204 Helical; (Potential). integral to membrane ovary(1) 1 Colorectal(110;0.196) GGGCTGCCTTCAGCTTGGTGG 0.657 NA 4 64 0 0 0.001168 0 0 KYNU 8942 broad.mit.edu 37 2 143642955 143642955 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:143642955G>C uc002tvl.2 + 2 149 c.19G>C c.(19-21)GAG>CAG p.E7Q KYNU_uc002tvk.2_Missense_Mutation_p.E7Q|KYNU_uc010fnm.2_Missense_Mutation_p.E7Q NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 7 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTCATCTCTTGAGCTGCCGGC 0.453 NA 7 47 0 0 0.00308 0 0 SCRN3 79634 broad.mit.edu 37 2 175268854 175268854 + Nonsense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:175268854C>T uc002uiq.2 + 5 653 c.565C>T c.(565-567)CAA>TAA p.Q189* SCRN3_uc010zen.1_Nonsense_Mutation_p.Q182*|SCRN3_uc010zeo.1_5'UTR NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN secernin 3 189 proteolysis dipeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.229) TATTTCTAATCAACTTTCCAT 0.368 NA 3 48 0 0 0.009096 0 0 TMEFF2 23671 broad.mit.edu 37 2 193059202 193059202 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:193059202C>T uc002utc.2 - 1 443 c.49G>A c.(49-51)GAG>AAG p.E17K TMEFF2_uc002utd.1_Missense_Mutation_p.E17K NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two 17 extracellular region|integral to membrane lung(2)|pancreas(1)|breast(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.0835) CAAAAGCCCTCGCAAAGTGTC 0.592 Pancreas(50;1277 1381 28487 47072) NA 6 42 0 0 0.008291 0 0 HECW2 57520 broad.mit.edu 37 2 197106927 197106927 + Silent SNP A A G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:197106927A>G uc002utm.1 - 20 3714 c.3531T>C c.(3529-3531)GGT>GGC p.G1177G HECW2_uc002utl.1_Silent_p.G821G NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1177 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CACGCTGGGTACCTGCAGCAA 0.473 NA 27 119 0 0 0.007291 0 0 CCDC150 284992 broad.mit.edu 37 2 197531497 197531497 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:197531497C>G uc002utp.1 + 7 952 c.817C>G c.(817-819)CAA>GAA p.Q273E CCDC150_uc002uto.1_Missense_Mutation_p.Q273E|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 273 Potential. 0 ACAGAGCGCTCAAGAACTACT 0.358 NA 6 21 0 0 0.001984 0 0 ABCA12 26154 broad.mit.edu 37 2 215851396 215851396 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:215851396C>T uc002vew.2 - 28 4253 c.4033G>A c.(4033-4035)GGG>AGG p.G1345R ABCA12_uc002vev.2_Missense_Mutation_p.G1027R|ABCA12_uc010zjn.1_Missense_Mutation_p.G272R NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1345 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGGGCAACCCCGACTGTGAGA 0.433 Ovarian(66;664 1488 5121 34295) NA 4 72 0 0 0.009096 0 0 DNAJB2 3300 broad.mit.edu 37 2 220147600 220147600 + Nonsense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:220147600C>T uc002vkx.1 + 6 631 c.394C>T c.(394-396)CGA>TGA p.R132* DNAJB2_uc002vkw.1_Nonsense_Mutation_p.R132*|DNAJB2_uc002vky.2_5'UTR|DNAJB2_uc010zlb.1_5'UTR NM_006736 NP_006727 P25686 DNJB2_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 2 132 ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding 0 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCGGGGTTCCCGACACTCAGG 0.537 NA 14 158 0 0 0.003163 0 0 PER2 8864 broad.mit.edu 37 2 239170885 239170885 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr2:239170885G>A uc002vyc.2 - 11 1491 c.1254C>T c.(1252-1254)ATC>ATT p.I418I PER2_uc010znv.1_Silent_p.I418I|PER2_uc010znw.1_Silent_p.I418I|PER2_uc010fyx.1_Nonsense_Mutation_p.Q383* NM_022817 NP_073728 O15055 PER2_HUMAN period 2 418 PAC. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TCCATGGGTTGATGAAGCTGG 0.592 NA 5 94 0 0 0.000602 0 0 NCOA6 23054 broad.mit.edu 37 20 33338106 33338106 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr20:33338106G>A uc002xav.2 - 10 4463 c.1892C>T c.(1891-1893)TCC>TTC p.S631F NCOA6_uc002xaw.2_Missense_Mutation_p.S631F NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 631 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 CTGGCCCTGGGAGGGCACGAT 0.572 NA 4 132 0 0 0.000602 0 0 EDEM2 55741 broad.mit.edu 37 20 33722746 33722746 + Missense_Mutation SNP T T A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr20:33722746T>A uc002xbo.2 - 6 597 c.497A>T c.(496-498)CAG>CTG p.Q166L EDEM2_uc010zuv.1_Missense_Mutation_p.Q125L|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Missense_Mutation_p.Q129L|EDEM2_uc010zut.1_Missense_Mutation_p.Q125L|EDEM2_uc002xbp.2_Missense_Mutation_p.Q14L|EDEM2_uc002xbn.2_Missense_Mutation_p.Q14L|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Intron NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 166 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGTGGGGGTCTGAAAGGCTGA 0.532 Esophageal Squamous(51;906 1021 24535 36410 39145) NA 14 46 0 0 0.00245 0 0 PLCG1 5335 broad.mit.edu 37 20 39795229 39795229 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr20:39795229C>G uc002xjp.1 + 18 2235 c.2114C>G c.(2113-2115)TCT>TGT p.S705C PLCG1_uc002xjo.1_Missense_Mutation_p.S705C|PLCG1_uc010zwe.1_Missense_Mutation_p.S331C|PLCG1_uc010ggf.2_Missense_Mutation_p.S55C NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 705 SH2 2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) TATGCCATCTCTTTCCGGTGA 0.592 NA 7 131 0 0 0.001984 0 0 TRMT2A 27037 broad.mit.edu 37 22 20102949 20102949 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr22:20102949C>G uc002zrk.1 - 5 945 c.730G>C c.(730-732)GAG>CAG p.E244Q TRMT2A_uc002zrl.1_Missense_Mutation_p.E244Q|TRMT2A_uc002zrm.1_Missense_Mutation_p.E66Q|TRMT2A_uc002zrn.1_Missense_Mutation_p.E244Q|TRMT2A_uc011ahk.1_3'UTR|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 244 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 ACCAGAAACTCACACTTATTA 0.607 NA 4 134 0 0 0.009096 0 0 MCM5 4174 broad.mit.edu 37 22 35802587 35802587 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr22:35802587C>T uc003anu.3 + 5 559 c.465C>T c.(463-465)ATC>ATT p.I155I MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Silent_p.I112I|MCM5_uc010gws.1_5'Flank NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 155 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 CTGGCATCATCATCGCGGCCT 0.592 NA 5 66 0 0 0.001168 0 0 MYH9 4627 broad.mit.edu 37 22 36737460 36737460 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr22:36737460G>C uc003apg.2 - 3 676 c.445C>G c.(445-447)CAC>GAC p.H149D MYH9_uc003aph.1_Missense_Mutation_p.H13D|MYH9_uc003api.1_Missense_Mutation_p.H149D NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 149 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GCATAGATGTGAGGGGGCATC 0.522 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 10 162 0 0 0.010729 0 0 MPPED1 758 broad.mit.edu 37 22 43870650 43870650 + Silent SNP A A T rs143130815 by1000genomes TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr22:43870650A>T uc011apv.1 + 4 664 c.441A>T c.(439-441)GCA>GCT p.A147A MPPED1_uc011apw.1_Silent_p.A41A|MPPED1_uc011apx.1_5'UTR|MPPED1_uc011apy.1_Silent_p.A147A|MPPED1_uc011apz.1_Silent_p.A180A NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 147 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) TCGTGATCGCAGGCAACCACG 0.562 NA 4 143 0 0 0.009096 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47274580 47274580 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr22:47274580C>G uc003bib.2 + 5 804 c.669C>G c.(667-669)ATC>ATG p.I223M TBC1D22A_uc010haf.2_Missense_Mutation_p.I193M|TBC1D22A_uc003bic.2_Missense_Mutation_p.I164M|TBC1D22A_uc003bie.2_Missense_Mutation_p.I145M|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.I176M NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 223 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GGTCCGGAATCCCTAAGCCAG 0.522 NA 6 152 0 0 0.00308 0 0 DLEC1 9940 broad.mit.edu 37 3 38151719 38151719 + Silent SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr3:38151719C>G uc003cho.1 + 23 3411 c.3390C>G c.(3388-3390)CTC>CTG p.L1130L DLEC1_uc003chp.1_Silent_p.L1130L|DLEC1_uc010hgv.1_Silent_p.L1133L|DLEC1_uc003chr.1_Silent_p.L236L|DLEC1_uc010hgx.1_RNA NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 1130 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GTTTCTCCCTCAAGTTTGAGT 0.557 NA 15 177 0 0 0.00245 0 0 CACNA1D 776 broad.mit.edu 37 3 53785859 53785859 + Nonsense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr3:53785859C>G uc003dgv.3 + 28 3763 c.3600C>G c.(3598-3600)TAC>TAG p.Y1200* CACNA1D_uc003dgu.3_Nonsense_Mutation_p.Y1220*|CACNA1D_uc003dgy.3_Nonsense_Mutation_p.Y1200*|CACNA1D_uc003dgw.3_Nonsense_Mutation_p.Y867*|CACNA1D_uc003dgx.1_Nonsense_Mutation_p.Y348* NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1200 IV.|Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AGTTCTGGTACGTGGTGAACT 0.493 NA 27 302 0 0 0.00632 0 0 C3orf38 285237 broad.mit.edu 37 3 88205273 88205273 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr3:88205273C>G uc003dqw.2 + 4 789 c.478C>G c.(478-480)CTA>GTA p.L160V NM_173824 NP_776185 Q5JPI3 CC038_HUMAN hypothetical protein LOC285237 160 apoptosis 0 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) GAATCCTTTTCTAGGACCACC 0.388 NA 4 90 0 0 0.000602 0 0 SIDT1 54847 broad.mit.edu 37 3 113285349 113285349 + Missense_Mutation SNP A A C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr3:113285349A>C uc003eak.2 + 2 956 c.305A>C c.(304-306)GAG>GCG p.E102A SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.E102A|SIDT1_uc011big.1_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 102 Extracellular (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 CAGCAGAAAGAGGTGCTGTCC 0.493 NA 4 182 0 0 0.000602 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378190 113378190 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr3:113378190G>A uc003eam.2 - 7 2750 c.2339C>T c.(2338-2340)TCA>TTA p.S780L KIAA2018_uc003eal.2_Missense_Mutation_p.S724L NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 780 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 AGTGTTCATTGAGGAAGTACT 0.423 NA 12 139 0 0 0.001855 0 0 ATR 545 broad.mit.edu 37 3 142255000 142255000 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr3:142255000C>G uc003eux.3 - 20 3891 c.3769G>C c.(3769-3771)GAT>CAT p.D1257H NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1257 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TCTGGATGATCAGGTAAAAAA 0.269 NA Other_conserved_DNA_damage_response_genes 8 78 0 0 0.004482 0 0 SLC33A1 9197 broad.mit.edu 37 3 155571730 155571730 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr3:155571730G>A uc003fan.3 - 1 438 c.57C>T c.(55-57)TTC>TTT p.F19F SLC33A1_uc003fao.1_Silent_p.F19F NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 19 Cytoplasmic (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GAGAGTGACTGAAATTCCCTG 0.617 NA 5 34 0 0 0.006214 0 0 ARPM1 84517 broad.mit.edu 37 3 169485492 169485492 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr3:169485492C>T uc003ffs.1 - 2 1222 c.847G>A c.(847-849)GAT>AAT p.D283N TERC_uc003ffr.1_5'Flank NM_032487 NP_115876 Q9BYD9 ARPM1_HUMAN actin related protein M1 283 cytoplasm|cytoskeleton 0 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AGGCCTGTATCACATTTCATT 0.453 NA 15 248 0 0 0.004007 0 0 LRCH3 84859 broad.mit.edu 37 3 197581296 197581296 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr3:197581296G>A uc011bul.1 + 14 1629 c.1624G>A c.(1624-1626)GAT>AAT p.D542N LRCH3_uc003fyj.1_Missense_Mutation_p.D542N|LRCH3_uc011bum.1_Missense_Mutation_p.D514N|LRCH3_uc011bun.1_Missense_Mutation_p.D388N|LRCH3_uc003fyk.2_Missense_Mutation_p.D137N NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 542 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) TCAGCACACTGATGATAGTGC 0.423 NA 19 95 0 0 0.008871 0 0 ATP8A1 10396 broad.mit.edu 37 4 42457409 42457409 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr4:42457409G>C uc003gwr.2 - 29 2954 c.2722C>G c.(2722-2724)CTT>GTT p.L908V ATP8A1_uc003gwq.2_Missense_Mutation_p.L134V|ATP8A1_uc003gws.2_Missense_Mutation_p.L893V NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 908 Helical; (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) AATATTCCAAGAGTTAAAGGA 0.403 NA 6 98 0 0 0.001984 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68812269 68812269 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr4:68812269C>T uc003hdr.1 - 2 153 c.32G>A c.(31-33)CGA>CAA p.R11Q LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.R11Q NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A isoform 1 11 Cytoplasmic (Potential). cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity skin(1) 1 ATTTCTGCTTCGGGTGCCAAA 0.488 NSCLC(26;2 894 10941 14480 22546) NA 5 55 0 0 0.001168 0 0 BANK1 55024 broad.mit.edu 37 4 102839186 102839186 + Missense_Mutation SNP G G T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr4:102839186G>T uc003hvy.3 + 7 1320 c.1046G>T c.(1045-1047)TGT>TTT p.C349F BANK1_uc003hvx.3_Missense_Mutation_p.C334F|BANK1_uc010ill.2_Missense_Mutation_p.C216F|BANK1_uc003hvz.3_Missense_Mutation_p.C319F NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 349 ANK 1. B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CTTCTCCACTGTGCAGCAAAA 0.378 NA 22 62 1.55469e-16 1.74903e-16 0.00333 1 0 ANKRD50 57182 broad.mit.edu 37 4 125591892 125591892 + Missense_Mutation SNP C C A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr4:125591892C>A uc003ifg.3 - 3 2806 c.2540G>T c.(2539-2541)GGA>GTA p.G847V ANKRD50_uc011cgo.1_Missense_Mutation_p.G668V|ANKRD50_uc010inw.2_Missense_Mutation_p.G847V NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 847 ANK 12. central_nervous_system(1) 1 AGGTGTCCATCCAGCATCATC 0.433 NA 11 186 4.36969e-10 4.84027e-10 0.001855 1 0 SDHA 6389 broad.mit.edu 37 5 251536 251536 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:251536G>C uc003jao.3 + 13 1862 c.1747G>C c.(1747-1749)GAG>CAG p.E583Q SDHA_uc011clv.1_Missense_Mutation_p.E583Q|SDHA_uc011clw.1_Missense_Mutation_p.E535Q|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Missense_Mutation_p.E358Q|SDHA_uc003jar.3_Missense_Mutation_p.E177Q NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 583 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CTACGGAGCAGAGGCACGGAA 0.612 NA Familial_Paragangliomas 9 206 0 0 0.008291 0 0 IRX1 79192 broad.mit.edu 37 5 3600724 3600724 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:3600724G>A uc003jde.2 + 3 1366 c.1314G>A c.(1312-1314)GAG>GAA p.E438E NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 438 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 CTCTCGCAGAGAGAGACCTCG 0.607 NA 4 228 0 0 0.000602 0 0 MYO10 4651 broad.mit.edu 37 5 16701570 16701570 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:16701570C>T uc003jft.3 - 25 3402 c.2934G>A c.(2932-2934)GAG>GAA p.E978E MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Silent_p.E335E|MYO10_uc011cne.1_Silent_p.E335E|MYO10_uc010itx.2_Silent_p.E601E NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 978 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 AGTTGGGCTTCTCCTCGCATG 0.597 NA 5 41 0 0 0.000602 0 0 CDH6 1004 broad.mit.edu 37 5 31317488 31317488 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:31317488C>G uc003jhe.1 + 10 1845 c.1519C>G c.(1519-1521)CAG>GAG p.Q507E CDH6_uc003jhd.1_Missense_Mutation_p.Q507E NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 507 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 TTAGTTGATTCAGACCCTGCA 0.383 NA 9 87 0 0 0.010729 0 0 PLK2 10769 broad.mit.edu 37 5 57753340 57753340 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:57753340C>T uc003jrn.2 - 6 911 c.784G>A c.(784-786)GAC>AAC p.D262N NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN polo-like kinase 2 262 Protein kinase. positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) GCCCAAATGTCTGATTCACAG 0.373 NA 8 66 0 0 0.004482 0 0 PPWD1 23398 broad.mit.edu 37 5 64867882 64867882 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:64867882G>A uc003jtv.3 + 5 745 c.738G>A c.(736-738)ATG>ATA p.M246I PPWD1_uc011cqv.1_Missense_Mutation_p.M216I|PPWD1_uc011cqw.1_Missense_Mutation_p.M90I NM_015342 NP_056157 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat 246 WD 3. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) AATCTGGGATGATTGAATACT 0.378 NA 4 111 0 0 0.009096 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65288649 65288649 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:65288649G>C uc003juk.1 + 3 411 c.103G>C c.(103-105)GAA>CAA p.E35Q ERBB2IP_uc003juh.1_Missense_Mutation_p.E35Q|ERBB2IP_uc003jui.1_Missense_Mutation_p.E35Q|ERBB2IP_uc003juj.1_Missense_Mutation_p.E35Q|ERBB2IP_uc011cqx.1_Missense_Mutation_p.E35Q|ERBB2IP_uc011cqy.1_Missense_Mutation_p.E35Q|ERBB2IP_uc011cqz.1_Missense_Mutation_p.E35Q|ERBB2IP_uc010iwx.1_Missense_Mutation_p.E35Q|ERBB2IP_uc003jul.1_Missense_Mutation_p.E35Q NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 35 LRR 1. basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TTGCAGCTTAGAACAAGTTCC 0.393 NA 6 140 0 0 0.001984 0 0 MAST4 375449 broad.mit.edu 37 5 66460707 66460707 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:66460707G>A uc003jut.1 + 28 5201 c.5133G>A c.(5131-5133)AGG>AGA p.R1711R MAST4_uc003juw.2_Silent_p.R1639R|MAST4_uc003jux.2_5'Flank NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1903 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGAGGGACAGGAAAGGTCCCC 0.567 NA 6 69 0 0 0.004482 0 0 CD180 4064 broad.mit.edu 37 5 66480332 66480332 + Silent SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:66480332C>G uc003juy.2 - 3 487 c.339G>C c.(337-339)CTG>CTC p.L113L NM_005582 NP_005573 Q99467 CD180_HUMAN CD180 molecule precursor 113 LRR 3.|Extracellular (Potential). inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity ovary(1) 1 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) CCATGAATATCAGGGGATTTC 0.393 NA 18 180 0 0 0.007413 0 0 ENC1 8507 broad.mit.edu 37 5 73931322 73931322 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:73931322C>G uc003kdc.3 - 2 2120 c.989G>C c.(988-990)AGA>ACA p.R330T ENC1_uc011css.1_Missense_Mutation_p.R257T NM_003633 NP_003624 O14682 ENC1_HUMAN ectodermal-neural cortex (with BTB-like domain) 330 Kelch 1. nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding ovary(1)|pancreas(1)|skin(1) 3 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) AAACTCTTTTCTTGGGCTGGG 0.478 NA 10 233 0 0 0.010729 0 0 F2R 2149 broad.mit.edu 37 5 76028674 76028674 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:76028674G>A uc003ken.3 + 2 889 c.624G>A c.(622-624)ATG>ATA p.M208I NM_001992 NP_001983 P25116 PAR1_HUMAN coagulation factor II receptor precursor 208 Cytoplasmic (Potential). activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity ovary(3) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) TGTATCCCATGCAGTCCCTCT 0.542 NA 37 242 0 0 0.004289 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101595922 101595922 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:101595922G>C uc003knm.2 - 6 1410 c.1123C>G c.(1123-1125)CTA>GTA p.L375V NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 375 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TTTACCTTTAGAGCAGCTGGA 0.264 NA 3 15 0 0 0.004672 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101755593 101755593 + Missense_Mutation SNP A A T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:101755593A>T uc003knn.2 - 8 1581 c.1409T>A c.(1408-1410)GTG>GAG p.V470E SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.V470E|SLCO6A1_uc003knq.2_Missense_Mutation_p.V408E NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 470 Helical; Name=9; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AATAATAAACACAAGCAGTAT 0.338 NA 13 68 0 0 0.00245 0 0 CD14 929 broad.mit.edu 37 5 140012043 140012043 + Missense_Mutation SNP T T G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:140012043T>G uc003lgi.1 - 2 880 c.526A>C c.(526-528)AGC>CGC p.S176R CD14_uc003lgj.1_Missense_Mutation_p.S176R NM_000591 NP_000582 P08571 CD14_HUMAN CD14 antigen precursor 176 LRR 5. apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCAATGCTCAGTACCTTG 0.617 NA 10 54 0 0 0.003163 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140890710 140890710 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:140890710G>C uc003lla.1 + 4 2805 c.2805G>C c.(2803-2805)AAG>AAC p.K935N PCDHGA1_uc003lji.1_Missense_Mutation_p.K922N|PCDHGA2_uc003ljk.1_Missense_Mutation_p.K923N|PCDHGA3_uc003ljm.1_Missense_Mutation_p.K923N|PCDHGA3_uc010jfx.1_Missense_Mutation_p.K683N|PCDHGB1_uc003ljo.1_Missense_Mutation_p.K918N|PCDHGA4_uc003ljq.1_Missense_Mutation_p.K922N|PCDHGB2_uc003ljs.1_Missense_Mutation_p.K922N|PCDHGA5_uc003lju.1_Missense_Mutation_p.K922N|PCDHGB3_uc003ljw.1_Missense_Mutation_p.K920N|PCDHGA6_uc003ljy.1_Missense_Mutation_p.K923N|PCDHGA7_uc003lka.1_Missense_Mutation_p.K923N|PCDHGB4_uc003lkc.1_Missense_Mutation_p.K914N|PCDHGA8_uc003lkd.1_Missense_Mutation_p.K923N|PCDHGB5_uc003lkf.1_Missense_Mutation_p.K914N|PCDHGA9_uc003lkh.1_Missense_Mutation_p.K923N|PCDHGB6_uc003lkj.1_Missense_Mutation_p.K921N|PCDHGA10_uc003lkl.1_Missense_Mutation_p.K927N|PCDHGB7_uc003lkn.1_Missense_Mutation_p.K920N|PCDHGA11_uc003lkp.1_Missense_Mutation_p.K741N|PCDHGA11_uc003lkq.1_Missense_Mutation_p.K926N|PCDHGA12_uc003lkt.1_Missense_Mutation_p.K923N|PCDHGC3_uc003lkv.1_Missense_Mutation_p.K925N|PCDHGC3_uc003lkw.1_Missense_Mutation_p.K125N|PCDHGC4_uc003lky.1_Missense_Mutation_p.K929N NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 935 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGCAACAAGAAGAAGTCGG 0.597 NA 8 97 0 0 0.004482 0 0 HMP19 51617 broad.mit.edu 37 5 173531304 173531304 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:173531304C>G uc003mcx.2 + 4 432 c.287C>G c.(286-288)ACC>AGC p.T96S HMP19_uc011dfh.1_5'UTR NM_015980 NP_057064 Q9Y328 NSG2_HUMAN HMP19 protein 96 Lumenal (Potential). dopamine receptor signaling pathway cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane dopamine receptor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AAAGCCTTCACCTATGATCAC 0.473 NA 15 72 0 0 0.007413 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026184 176026184 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:176026184C>G uc003meo.1 - 2 827 c.652G>C c.(652-654)GAT>CAT p.D218H NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 218 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACAAAGGATCTACTTTTCCC 0.517 NA 15 176 0 0 0.004007 0 0 ZFP2 80108 broad.mit.edu 37 5 178359365 178359365 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:178359365G>A uc003mjn.1 + 5 1560 c.1051G>A c.(1051-1053)GAG>AAG p.E351K ZFP2_uc010jky.2_Missense_Mutation_p.E351K|ZFP2_uc010jkx.1_Missense_Mutation_p.E351K NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN zinc finger protein 2 homolog 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TCACACTGGAGAGAAACCTTA 0.413 NA 7 87 0 0 0.001984 0 0 PAK1IP1 55003 broad.mit.edu 37 6 10707679 10707679 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr6:10707679G>C uc003mzg.2 + 8 803 c.772G>C c.(772-774)GAG>CAG p.E258Q NM_017906 NP_060376 Q9NWT1 PK1IP_HUMAN PAK1 interacting protein 1 258 WD 5. negative regulation of signal transduction nucleolus|plasma membrane 0 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.117) TGAAATTCCAGAGCATCATGT 0.328 NA 11 226 0 0 0.001855 0 0 VARS 7407 broad.mit.edu 37 6 31752254 31752254 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr6:31752254C>T uc003nxe.2 - 12 1916 c.1493G>A c.(1492-1494)CGC>CAC p.R498H VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 498 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) GAGCAGGGTGCGACCTGTCAG 0.597 NA 4 201 0 0 0.000602 0 0 RUNX2 860 broad.mit.edu 37 6 45459812 45459812 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr6:45459812C>T uc011dvx.1 + 6 1030 c.820C>T c.(820-822)CCA>TCA p.P274S RUNX2_uc011dvy.1_Missense_Mutation_p.P274S|RUNX2_uc003oxt.2_Missense_Mutation_p.P260S NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 274 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 GAACTCTGCACCAAGTCCTTT 0.532 NA 4 134 0 0 0.009096 0 0 PKHD1 5314 broad.mit.edu 37 6 51720762 51720762 + Missense_Mutation SNP T T C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr6:51720762T>C uc003pah.1 - 49 8116 c.7840A>G c.(7840-7842)ATG>GTG p.M2614V PKHD1_uc010jzn.1_Missense_Mutation_p.M597V|PKHD1_uc003pai.2_Missense_Mutation_p.M2614V NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2614 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AGCAGAGCCATCCAGCCACGA 0.423 NA 17 104 0 0 0.008361 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62688017 62688017 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr6:62688017G>A uc003peg.2 - 4 684 c.437C>T c.(436-438)TCA>TTA p.S146L NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) ACTCATACGTGAATAAGCTTC 0.368 NA 10 85 0 0 0.008291 0 0 MAD1L1 8379 broad.mit.edu 37 7 2108903 2108903 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:2108903C>T uc003slh.1 - 12 1410 c.1144G>A c.(1144-1146)GAG>AAG p.E382K MAD1L1_uc003sle.1_Missense_Mutation_p.E111K|MAD1L1_uc003slf.1_Missense_Mutation_p.E382K|MAD1L1_uc003slg.1_Missense_Mutation_p.E382K|MAD1L1_uc010ksh.1_Missense_Mutation_p.E382K|MAD1L1_uc003sli.1_Missense_Mutation_p.E290K|MAD1L1_uc010ksi.1_Missense_Mutation_p.E335K|MAD1L1_uc010ksj.2_Missense_Mutation_p.E382K NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 382 Necessary for interaction with NEK2.|Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) TTCCTCTCCTCCAACAGCTGG 0.637 NA 6 102 0 0 0.006214 0 0 HECW1 23072 broad.mit.edu 37 7 43548608 43548608 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:43548608C>T uc003tid.1 + 24 4512 c.3907C>T c.(3907-3909)CTG>TTG p.L1303L HECW1_uc011kbi.1_Silent_p.L1269L|uc003tig.1_RNA NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1303 HECT. 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 CTTCTTCCTTCTGTCTCAGGA 0.527 NA 16 307 0 0 0.003163 0 0 PKD1L1 168507 broad.mit.edu 37 7 47979820 47979820 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:47979820C>T uc003tny.1 - 3 255 c.255G>A c.(253-255)CAG>CAA p.Q85Q NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 85 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AGGATGGGCTCTGTGATTCCC 0.468 NA 4 230 0 0 0.000602 0 0 ACN9 57001 broad.mit.edu 37 7 96810322 96810322 + Splice_Site SNP A A G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:96810322A>G uc003uoo.3 + 2 1306 c.175_splice c.e2-2 p.V59_splice NM_020186 NP_064571 Q9NRP4 ACN9_HUMAN ACN9 homolog precursor regulation of gluconeogenesis mitochondrial intermembrane space 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) TTATCTTTTTAGGTGTATGCA 0.328 NA 5 31 0 0 0.00308 0 0 SLC12A9 56996 broad.mit.edu 37 7 100459452 100459452 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:100459452G>C uc003uwp.2 + 12 1772 c.1630G>C c.(1630-1632)GCC>CCC p.A544P SLC12A9_uc003uwq.2_Missense_Mutation_p.A455P|SLC12A9_uc011kki.1_Missense_Mutation_p.A75P|SLC12A9_uc003uwr.2_Missense_Mutation_p.A280P|SLC12A9_uc003uws.2_Missense_Mutation_p.A75P|SLC12A9_uc003uwt.2_Missense_Mutation_p.A280P|SLC12A9_uc003uwv.2_Missense_Mutation_p.A75P NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 544 Extracellular (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) CCCCCGGGGCGCCCTGCCTCT 0.657 NA 8 43 0 0 0.014323 0 0 MUC17 140453 broad.mit.edu 37 7 100682517 100682517 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:100682517C>T uc003uxp.1 + 3 7873 c.7820C>T c.(7819-7821)ACT>ATT p.T2607I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2607 Extracellular (Potential).|59 X approximate tandem repeats.|42.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CCTGTCACCACTTCTACTGAA 0.443 NA 74 404 0 0 0.01441 0 0 CLDN15 24146 broad.mit.edu 37 7 100877591 100877591 + Missense_Mutation SNP G G A rs80277788 TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:100877591G>A uc003uyg.1 - 2 604 c.350C>T c.(349-351)GCG>GTG p.A117V CLDN15_uc003uyh.1_Missense_Mutation_p.A117V|CLDN15_uc003uyi.2_3'UTR NM_014343 NP_055158 P56746 CLD15_HUMAN claudin 15 117 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) TGCGGTGGCCGCCAGCTTGGC 0.657 NA 46 110 0 0 0.01441 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121636514 121636514 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:121636514G>C uc003vjy.2 + 9 1402 c.1007G>C c.(1006-1008)CGA>CCA p.R336P PTPRZ1_uc003vjz.2_Missense_Mutation_p.R336P NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 336 Extracellular (Potential).|Fibronectin type-III. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 GAAAGACCTCGAGTCGTTTAT 0.408 NA 4 138 0 0 0.009096 0 0 RNF133 168433 broad.mit.edu 37 7 122338652 122338653 + Missense_Mutation DNP CC CC AG TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:122338652_122338653CC>AG uc003vkj.1 - 1 556_557 c.320_321GG>CT c.(319-321)CGG>CCT p.R107P CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 107 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 TACAACCTCCCCGTTCAATAAG 0.455 Colon(198;1778 2057 7449 19869 45985) NA 22 247 0 0 0.004672 0 0 MEST 4232 broad.mit.edu 37 7 130143804 130143804 + Missense_Mutation SNP T T G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:130143804T>G uc003vqg.2 + 11 1074 c.857T>G c.(856-858)GTA>GGA p.V286G MEST_uc003vqc.2_Missense_Mutation_p.V277G|MEST_uc003vqd.2_Missense_Mutation_p.V243G|MEST_uc003vqf.2_Missense_Mutation_p.V277G|MEST_uc011kph.1_Missense_Mutation_p.V272G|MEST_uc010lmg.2_Intron NM_002402 NP_002393 Q5EB52 MEST_HUMAN mesoderm specific transcript isoform a 286 Helical; (Potential). mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding ovary(2) 2 Melanoma(18;0.0435) TTGGATCCTGTAAATCCCTAT 0.398 Colon(126;2182 2305 6517 35181) NA 14 177 0 0 0.00499 0 0 CNOT4 4850 broad.mit.edu 37 7 135098287 135098287 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:135098287G>A uc003vsv.1 - 6 944 c.637C>T c.(637-639)CTT>TTT p.L213F CNOT4_uc003vss.2_Missense_Mutation_p.L213F|CNOT4_uc011kpz.1_Missense_Mutation_p.L213F|CNOT4_uc003vst.2_Missense_Mutation_p.L213F|CNOT4_uc003vsu.1_Missense_Mutation_p.L213F|CNOT4_uc011kpy.1_Missense_Mutation_p.L213F NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 213 C3H1-type. nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 AATTCATGAAGATACATGCAG 0.418 Ovarian(51;766 1130 5502 35047 50875) NA 5 80 0 0 0.001168 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602619 138602619 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:138602619C>G uc011kql.1 - 2 1802 c.1753G>C c.(1753-1755)GAC>CAC p.D585H KIAA1549_uc003vuk.3_Missense_Mutation_p.D535H|KIAA1549_uc011kqj.1_Missense_Mutation_p.D585H NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 585 Ser-rich. integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 ACACTCGGGTCTCTGACGGCA 0.468 NSCLC(119;1534 1718 44213 46230 50068) NA O BRAF pilocytic astrocytoma 4 25 0 0 0.000602 0 0 CLCN1 1180 broad.mit.edu 37 7 143027907 143027907 + Missense_Mutation SNP T T G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:143027907T>G uc003wcr.1 + 8 983 c.896T>G c.(895-897)GTT>GGT p.V299G CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_Missense_Mutation_p.F95V NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 299 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) TACTTTGCTGTTCGGAACTAC 0.552 NA 40 78 0 0 0.00874 0 0 PTK2B 2185 broad.mit.edu 37 8 27287917 27287917 + Silent SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr8:27287917G>A uc003xfn.1 + 12 1459 c.651G>A c.(649-651)CAG>CAA p.Q217Q PTK2B_uc003xfo.1_Silent_p.Q217Q|PTK2B_uc003xfp.1_Silent_p.Q217Q|PTK2B_uc003xfq.1_Silent_p.Q217Q|PTK2B_uc010luq.1_5'Flank|PTK2B_uc003xfr.1_5'Flank NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 217 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TCCCAAAGCAGATGCAGGAGA 0.552 NA 13 114 0 0 0.00499 0 0 TTPA 7274 broad.mit.edu 37 8 63978592 63978592 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr8:63978592C>G uc003xux.1 - 3 455 c.423G>C c.(421-423)GAG>GAC p.E141D NM_000370 NP_000361 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 141 CRAL-TRIO. E -> K (in AVED). lipid metabolic process transporter activity|vitamin E binding 0 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) GTACAATAAGCTCGGATGTGA 0.393 NA 28 36 0 0 0.005443 0 0 UBR5 51366 broad.mit.edu 37 8 103291157 103291157 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr8:103291157C>G uc003ykr.1 - 44 6218 c.6185G>C c.(6184-6186)AGA>ACA p.R2062T UBR5_uc003yks.1_Missense_Mutation_p.R2062T NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2062 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) ATCCTCCTTTCTAGCATTTGG 0.348 Ovarian(131;96 1741 5634 7352 27489) NA 13 221 0 0 0.013537 0 0 CSMD3 114788 broad.mit.edu 37 8 113694818 113694818 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr8:113694818G>A uc003ynu.2 - 16 2689 c.2530C>T c.(2530-2532)CGG>TGG p.R844W CSMD3_uc003yns.2_Missense_Mutation_p.R116W|CSMD3_uc003ynt.2_Missense_Mutation_p.R804W|CSMD3_uc011lhx.1_Missense_Mutation_p.R740W NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 844 Sushi 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCAAACCGCCGTGCATTGATT 0.348 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 151 0 0 0.00333 0 0 DEPDC6 64798 broad.mit.edu 37 8 121019082 121019082 + Missense_Mutation SNP C C T rs141805893 TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr8:121019082C>T uc003yow.3 + 7 1151 c.964C>T c.(964-966)CCC>TCC p.P322S DEPDC6_uc011lid.1_Missense_Mutation_p.P221S NM_022783 NP_073620 Q8TB45 DPTOR_HUMAN DEP domain containing 6 322 intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding 0 Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ACTCCTTACTCCCGGGGCTCC 0.512 NA 4 76 0 0 0.000602 0 0 WDR67 93594 broad.mit.edu 37 8 124089411 124089411 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr8:124089411G>C uc003ypp.1 + 2 228 c.138G>C c.(136-138)TTG>TTC p.L46F WDR67_uc011lig.1_Missense_Mutation_p.L46F|WDR67_uc011lih.1_5'UTR|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.L46F NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 46 WD 1. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TGCGATTTTTGAATGTGGCTT 0.373 NA 20 256 0 0 0.007413 0 0 PYCRL 65263 broad.mit.edu 37 8 144689207 144689207 + Silent SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr8:144689207G>C uc003yyy.2 - 3 298 c.288C>G c.(286-288)GTC>GTG p.V96V PYCRL_uc011lkm.1_Silent_p.V96V|PYCRL_uc011lkn.1_RNA NM_023078 NP_075566 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 84 proline biosynthetic process pyrroline-5-carboxylate reductase activity 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CCTCTGCCAGGACAGCTGGCA 0.627 NA 9 93 0 0 0.001855 0 0 TDRD7 23424 broad.mit.edu 37 9 100258036 100258036 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr9:100258036C>T uc004axj.2 + 17 3393 c.3168C>T c.(3166-3168)GTC>GTT p.V1056V TDRD7_uc011lux.1_Silent_p.V982V|TDRD7_uc011luy.1_Silent_p.V376V NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 1056 Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) TGCAGACAGTCATTGAAAATG 0.478 NA 23 154 0 0 0.014323 0 0 NUP214 8021 broad.mit.edu 37 9 134003067 134003067 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr9:134003067C>T uc004cag.2 + 2 313 c.202C>T c.(202-204)CTT>TTT p.L68F NUP214_uc004cah.2_Missense_Mutation_p.L68F|NUP214_uc004caf.1_Missense_Mutation_p.L68F NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 68 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TAAAAATCTTCTTATTCAAAA 0.448 Pancreas(4;24 48 25510 30394 32571) NA T DEK|SET|ABL1 AML|T-ALL 5 138 0 0 0.000602 0 0 TLR7 51284 broad.mit.edu 37 X 12905246 12905246 + Missense_Mutation SNP C C A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:12905246C>A uc004cvc.2 + 3 1758 c.1619C>A c.(1618-1620)CCT>CAT p.P540H NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 540 Extracellular (Potential).|LRR 17. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) GAATTCCAACCTTTAGCAGAG 0.398 NA 153 378 1.42561e-87 1.62927e-87 0.01441 1 0 TLR8 51311 broad.mit.edu 37 X 12937571 12937571 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:12937571C>T uc004cve.2 + 2 480 c.412C>T c.(412-414)CCC>TCC p.P138S TLR8_uc004cvd.2_Missense_Mutation_p.P156S NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 138 LRR 1.|Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 CAACCAGTTACCCCAAATACC 0.388 NA 50 175 0 0 0.01441 0 0 CACNA1F 778 broad.mit.edu 37 X 49068406 49068406 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:49068406C>T uc004dnb.2 - 35 4147 c.4085G>A c.(4084-4086)CGA>CAA p.R1362Q CACNA1F_uc010nip.2_Missense_Mutation_p.R1351Q NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1362 Extracellular (Potential).|IV. axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GTTGTTGTTTCGGTTTATCTG 0.552 NA 21 151 0 0 0.00333 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003459 75003459 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:75003459G>C uc004ecj.1 - 1 1613 c.1428C>G c.(1426-1428)ATC>ATG p.I476M NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 476 MAGE 2. ovary(1)|skin(1) 2 CTTTCATTTTGATGGTTTCAT 0.493 NA 14 151 0 0 0.001855 0 0 GPRASP1 9737 broad.mit.edu 37 X 101909157 101909157 + Missense_Mutation SNP T T A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:101909157T>A uc004ejj.3 + 5 1117 c.316T>A c.(316-318)TCT>ACT p.S106T GPRASP1_uc004eji.3_Missense_Mutation_p.S106T|GPRASP1_uc010nod.2_Missense_Mutation_p.S106T NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 106 cytoplasm protein binding ovary(1)|lung(1) 2 TGAAAGATTGTCTAAGACAGA 0.473 NA 105 282 0 0 0.01441 0 0 NUP62CL 54830 broad.mit.edu 37 X 106391025 106391025 + Missense_Mutation SNP G G T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:106391025G>T uc004ena.2 - 8 804 c.545C>A c.(544-546)GCA>GAA p.A182E NUP62CL_uc004enb.2_RNA NM_017681 NP_060151 Q9H1M0 N62CL_HUMAN nucleoporin 62kDa C-terminal like 182 protein transport nuclear pore structural constituent of nuclear pore 0 TCAGAATTCTGCAGATCTGGT 0.358 NA 18 54 2.54575e-18 2.87896e-18 0.010504 1 0 CAPN6 827 broad.mit.edu 37 X 110494845 110494845 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:110494845C>T uc004epc.1 - 6 993 c.825G>A c.(823-825)GAG>GAA p.E275E CAPN6_uc011msu.1_Silent_p.E20E NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 275 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 TATACACCTTCTCAGCACTGA 0.473 NA 61 667 0 0 0.01441 0 0 CUL4B 8450 broad.mit.edu 37 X 119660694 119660694 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:119660694C>G uc004esw.2 - 22 3101 c.2664G>C c.(2662-2664)AAG>AAC p.K888N CUL4B_uc010nqq.2_Missense_Mutation_p.K589N|CUL4B_uc004esv.2_Missense_Mutation_p.K870N NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 888 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 ATTCTATTCTCTTCTTAAGAT 0.353 NA 3 126 0 0 0.004672 0 0 TMEM185A 84548 broad.mit.edu 37 X 148692995 148692995 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:148692995C>T uc011mxq.1 - 3 501 c.190G>A c.(190-192)GTC>ATC p.V64I HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Intron|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_5'Flank NM_032508 NP_115897 Q8NFB2 T185A_HUMAN transmembrane protein 185A 64 integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CGTGCCCAGACTCCAGTTCCA 0.438 NA 6 598 0 0 0.001168 0 0 TKTL1 8277 broad.mit.edu 37 X 153539356 153539356 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:153539356C>G uc004fkg.2 + 4 706 c.520C>G c.(520-522)CAG>GAG p.Q174E TKTL1_uc011mzl.1_Missense_Mutation_p.Q168E|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Missense_Mutation_p.Q118E NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 174 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) AAACATCTATCAGAGGCGCTG 0.507 NA 14 131 0 0 0.00245 0 0 ATP6AP1 537 broad.mit.edu 37 X 153664138 153664138 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:153664138C>T uc004flf.1 + 10 1375 c.1314C>T c.(1312-1314)TTC>TTT p.F438F ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Silent_p.F398F|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank NM_001183 NP_001174 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory 438 Helical; (Potential). ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(3)|breast(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCATGCTCTTCATCTTCACCT 0.547 NA 9 618 0 0 0.004482 0 0 GAB3 139716 broad.mit.edu 37 X 153944516 153944516 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chrX:153944516C>T uc004fmj.1 - 2 209 c.161G>A c.(160-162)AGC>AAC p.S54N GAB3_uc004fmk.1_Missense_Mutation_p.S54N|GAB3_uc010nve.1_Missense_Mutation_p.S54N|GAB3_uc004fml.1_5'UTR NM_080612 NP_542179 Q8WWW8 GAB3_HUMAN Gab3 protein isoform 2 54 PH. ovary(1) 1 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GATGGGCTTGCTGGAGTGCTT 0.562 NA 8 176 0 0 0.006214 0 0 ETV6 2120 broad.mit.edu 37 12 12037505 12037506 + Frame_Shift_Del DEL TG TG - TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr12:12037505_12037506delTG uc001qzz.2 + 6 1410_1411 c.1136_1137delTG c.(1135-1137)CTGfs p.L379fs ETV6_uc001raa.1_Intron NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 379 ETS. cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CTGGCTCGACTGTGGGGAAACC 0.46 NA T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 9 157 --- --- --- --- NA NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578397 7578412 + Frame_Shift_Del DEL TGGGGGCAGCGCCTCA TGGGGGCAGCGCCTCA - rs68130327 TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 TGGGGGCAGCGCCTCA TGGGGGCAGCGCCTCA - - TGGGGGCAGCGCCTCA TGGGGGCAGCGCCTCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr17:7578397_7578412delTGGGGGCAGCGCCTCA uc002gim.2 - 5 712_727 c.518_533delTGAGGCGCTGCCCCCA c.(517-534)GTGAGGCGCTGCCCCCACfs p.V173fs TP53_uc002gig.1_Frame_Shift_Del_p.V173fs|TP53_uc002gih.2_Frame_Shift_Del_p.V173fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.V41fs|TP53_uc010cng.1_Frame_Shift_Del_p.V41fs|TP53_uc002gii.1_Frame_Shift_Del_p.V41fs|TP53_uc010cnh.1_Frame_Shift_Del_p.V173fs|TP53_uc010cni.1_Frame_Shift_Del_p.V173fs|TP53_uc002gij.2_Frame_Shift_Del_p.V173fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.V80fs|TP53_uc002gio.2_Frame_Shift_Del_p.V41fs|TP53_uc010vug.1_Frame_Shift_Del_p.V134fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 173_178 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> L (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(729)|p.C176F(102)|p.C176Y(55)|p.V173L(50)|p.V173M(39)|p.R175L(19)|p.C176S(18)|p.P177L(17)|p.P177R(15)|p.H178fs*69(13)|p.R175C(12)|p.C176W(11)|p.R175G(11)|p.P177P(10)|p.C176R(8)|p.H178Y(8)|p.P177_C182delPHHERC(8)|p.P177S(8)|p.V173A(8)|p.V173V(8)|p.R174W(8)|p.C176fs*71(7)|p.0?(7)|p.H178P(6)|p.C176*(6)|p.V173G(6)|p.H178fs*3(5)|p.R175S(5)|p.R43H(5)|p.R175P(5)|p.R82H(5)|p.R174fs*73(4)|p.H178D(4)|p.R175R(4)|p.V173fs*1(4)|p.R174K(4)|p.C176_R181delCPHHER(3)|p.C176G(3)|p.H178N(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R174fs*1(2)|p.R175fs*5(2)|p.P177fs*3(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174M(2)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.R175_H178>X(1)|p.V173fs*8(1)|p.C83Y(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.H178L(1)|p.R174fs*3(1)|p.R174fs*7(1)|p.V157_C176del20(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.C176del(1)|p.S149fs*72(1)|p.P177I(1)|p.P177T(1)|p.K164_P219del(1)|p.H178del(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.H179del(1)|p.V173E(1)|p.P177fs*69(1)|p.V173W(1)|p.R42fs*24(1)|p.R175fs*72(1)|p.R174_E180>K(1)|p.P177_E180delPHHE(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.C176fs*68(1)|p.P151_V173del23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.R174G(1)|p.R81fs*24(1)|p.C176fs*6(1)|p.P177_H179delPHH(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGT 0.644 Pancreas(47;798 1329 9957 10801) R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 43 --- --- --- --- NA NA NA NA NA UBA6 55236 broad.mit.edu 37 4 68484822 68484822 + Frame_Shift_Del DEL C C - TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr4:68484822delC uc003hdg.3 - 33 3104 c.3052delG c.(3052-3054)GAAfs p.E1018fs NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 1018 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 TATTTCTTTTCAGTAGTAGGT 0.338 NA 10 112 --- --- --- --- NA NA NA NA NA APC 324 broad.mit.edu 37 5 112175532 112175533 + Frame_Shift_Ins INS - - A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr5:112175532_112175533insA uc010jby.2 + 16 4621_4622 c.4241_4242insA c.(4240-4242)GTAfs p.V1414fs APC_uc011cvt.1_Frame_Shift_Ins_p.V1396fs|APC_uc003kpz.3_Frame_Shift_Ins_p.V1414fs|APC_uc003kpy.3_Frame_Shift_Ins_p.V1414fs|APC_uc010jbz.2_Frame_Shift_Ins_p.V1131fs|APC_uc010jca.2_Frame_Shift_Ins_p.V714fs NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1414 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.V1414fs*1(8)|p.V1414fs*9(6)|p.S1415fs*8(2)|p.V1414I(1)|p.Y1376fs*41(1)|p.?(1)|p.S1411fs*41(1)|p.M1413fs*5(1)|p.P1409fs*6(1)|p.K1192fs*3(1)|p.V1414fs*5(1)|p.S1415fs*4(1)|p.V1414fs*3(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGTGGAATGGTAAGTGGCATTA 0.47 NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115) 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 13 82 --- --- --- --- NA NA NA NA NA EGFR 1956 broad.mit.edu 37 7 55242480 55242503 + In_Frame_Del DEL AACATCTCCGAAAGCCAACAAGGA AACATCTCCGAAAGCCAACAAGGA - rs121913463 TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 AACATCTCCGAAAGCCAACAAGGA AACATCTCCGAAAGCCAACAAGGA - - AACATCTCCGAAAGCCAACAAGGA AACATCTCCGAAAGCCAACAAGGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr7:55242480_55242503delAACATCTCCGAAAGCCAACAAGGA uc003tqk.2 + 19 2496_2519 c.2250_2273delAACATCTCCGAAAGCCAACAAGGA c.(2248-2274)GCAACATCTCCGAAAGCCAACAAGGAA>GCA p.TSPKANKE751del EGFR_uc010kzg.1_In_Frame_Del_p.TSPKANKE706del|EGFR_uc011kco.1_In_Frame_Del_p.TSPKANKE698del NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 751_758 Cytoplasmic (Potential).|Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(313)|p.L747_P753>S(166)|p.L747_T751del(114)|p.E746_S752>V(67)|p.L747_S752del(64)|p.L747_T751>P(33)|p.E746_T751>A(30)|p.L747_P753del(21)|p.L747_P753>Q(19)|p.E746_T751del(18)|p.L747_T751>S(12)|p.S752_I759del(12)|p.E746_S752del(10)|p.T751_I759>N(8)|p.L747_T751>Q(7)|p.E746_P753>VS(6)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.T751I(5)|p.S752P(4)|p.E746_S752>D(4)|p.T751_I759>S(3)|p.A750_E758>P(3)|p.L747_S752>Q(3)|p.E746_T751>VA(3)|p.P753S(3)|p.E746_T751>VP(3)|p.L747_S752>QH(2)|p.E746_T751>L(2)|p.A750_K757del(2)|p.L747_T751>A(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_S752>T(2)|p.A750_E758del(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.T751_I759>NKA(2)|p.E749_E758>QP(2)|p.T751_E758del(2)|p.L747_K754>ST(1)|p.A750_K754del(1)|p.L747_S752>QR(1)|p.K754E(1)|p.P753P(1)|p.L747_K754>GC(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_A755del(1)|p.P753_I759del(1)|p.A755A(1)|p.L747_S752>V(1)|p.R748_S752del(1)|p.K757>NK(1)|p.K754K(1)|p.L747_T751>F(1)|p.E749_P753>Q(1)|p.T751_E758>A(1)|p.R748_P753del(1)|p.E746_P753>VQ(1)|p.L747_P753>CG(1)|p.E746_T751>LS(1)|p.L747_T751>N(1)|p.L747_A755>SKS(1)|p.E746_T751>P(1)|p.L747_K754del(1)|p.L747_N756>SKDD(1)|p.S752Y(1)|p.N756Y(1)|p.K754A(1)|p.T751_I759>REA(1)|p.N756S(1)|p.E746_P753>LS(1)|p.K757M(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGAT 0.496 L747_P753>Q(HCC4006_LUNG)|P753S(SKMEL28_SKIN) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 31 147 --- --- --- --- NA NA NA NA NA OSGIN2 734 broad.mit.edu 37 8 90937445 90937445 + Frame_Shift_Del DEL G G - TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75475a84-582d-4949-a428-1e28ad526d8c 7ea934db-e2a4-4530-9a26-5912ac7d34a2 g.chr8:90937445delG uc003yeg.2 + 6 1549 c.1203delG c.(1201-1203)AAGfs p.K401fs OSGIN2_uc003yeh.2_Frame_Shift_Del_p.K445fs NM_004337 NP_004328 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family 401 germ cell development|meiosis 0 BRCA - Breast invasive adenocarcinoma(11;0.0344) CTGGATTGAAGAAAATATTTA 0.408 NA 22 186 --- --- --- --- NA NA NA NA NA