Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut NBPF1 55672 broad.mit.edu 37 1 16892272 16892272 + Missense_Mutation SNP C C G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:16892272C>G uc009vos.1 - 28 4033 c.3145G>C c.(3145-3147)GAG>CAG p.E1049Q uc001ayw.2_5'Flank NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 1049 NBPF 7. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ACTTCAGGCTCTACTGCCTCC 0.483 NA 21 394 0 0 0 0 EPHB2 2048 broad.mit.edu 37 1 23219501 23219501 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:23219501G>A uc009vqj.1 + 7 1698 c.1553G>A c.(1552-1554)CGC>CAC p.R518H EPHB2_uc001bge.2_Missense_Mutation_p.R518H|EPHB2_uc001bgf.2_Missense_Mutation_p.R518H|EPHB2_uc010odu.1_Missense_Mutation_p.R518H NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 518 Fibronectin type-III 2.|Extracellular (Potential). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GGTTACGGGCGCTACAGCGGC 0.577 NA Hereditary_Prostate_Cancer 19 50 0 0 0 0 AK3L1 205 broad.mit.edu 37 1 65684449 65684449 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:65684449C>T uc001dby.2 + 4 525 c.278C>T c.(277-279)ACA>ATA p.T93I AK3L1_uc009wan.2_Missense_Mutation_p.T41I|AK3L1_uc001dbz.2_Missense_Mutation_p.T93I|AK3L1_uc001dca.2_Missense_Mutation_p.T93I NM_203464 NP_982289 P27144 KAD4_HUMAN adenylate kinase 3-like 1 isoform 7 93 AMP. mitochondrial matrix adenylate kinase activity|ATP binding|GTP binding 0 TTTCCTAGGACATTAGGACAA 0.388 NA 9 42 0 0 0 0 C1orf173 127254 broad.mit.edu 37 1 75072553 75072553 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:75072553C>T uc001dgg.2 - 10 1440 c.1221G>A c.(1219-1221)CCG>CCA p.P407P uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.P201P NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 407 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TCGGCAAAGACGGTTTTTTGT 0.418 NA 23 115 0 0 0 0 CCDC76 54482 broad.mit.edu 37 1 100602603 100602603 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:100602603C>A uc001dsv.2 + 3 242 c.223C>A c.(223-225)CAT>AAT p.H75N CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.H75N NM_019083 NP_061956 Q9NUP7 TRM13_HUMAN coiled-coil domain containing 76 75 CHHC-type. tRNA processing metal ion binding|methyltransferase activity ovary(1) 1 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194) ACTAGCAAAGCATTTGAAAAA 0.318 NA 10 55 2.81e-09 3.49e-09 1 0 C1orf51 148523 broad.mit.edu 37 1 150255844 150255844 + Missense_Mutation SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:150255844G>C uc001euh.2 + 2 303 c.167G>C c.(166-168)CGG>CCG p.R56P C1orf51_uc001eui.2_Intron|C1orf51_uc001euj.2_Missense_Mutation_p.R56P NM_144697 NP_653298 Q8N365 CA051_HUMAN hypothetical protein LOC148523 56 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GGAGGTTCACGGCCCAGCCCG 0.602 NA 8 170 0 0 0 0 OR10R2 343406 broad.mit.edu 37 1 158450102 158450102 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:158450102C>T uc010pik.1 + 1 435 c.435C>T c.(433-435)GCC>GCT p.A145A uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 145 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) GCTATGCTGCCATTTGTCACC 0.488 NA 45 205 0 0 0 0 PCNXL2 80003 broad.mit.edu 37 1 233313598 233313598 + Missense_Mutation SNP G G T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:233313598G>T uc001hvl.2 - 17 3458 c.3223C>A c.(3223-3225)CTG>ATG p.L1075M PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1075 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GACTCTGCCAGATTTTGATGT 0.428 NA 4 52 1.24e-05 1.49e-05 1 0 CAMK1D 57118 broad.mit.edu 37 10 12870837 12870837 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr10:12870837G>A uc001ilo.2 + 11 1344 c.1109G>A c.(1108-1110)CGG>CAG p.R370Q NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 370 calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|stomach(1) 2 GBM - Glioblastoma multiforme(1;3.16e-05) GGAGCCGAGCGGAGACCCAGG 0.642 NA 7 26 0 0 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819421 50819421 + Missense_Mutation SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr10:50819421G>C uc001jhw.2 + 1 1075 c.635G>C c.(634-636)CGT>CCT p.R212P CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 212 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 GAGCGCAGTCGTGCACTGGGC 0.672 NA 4 13 0 0 0 0 TACR2 6865 broad.mit.edu 37 10 71175838 71175838 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr10:71175838C>T uc001jpn.2 - 1 837 c.242G>A c.(241-243)TGC>TAC p.C81Y NM_001057 NP_001048 P21452 NK2R_HUMAN tachykinin receptor 2 81 Helical; Name=2; (Potential). excretion|muscle contraction integral to plasma membrane tachykinin receptor activity prostate(1) 1 Clonidine(DB00575)|Octreotide(DB00104) GGCAGCCATGCAGAGGTCAGC 0.547 NA 11 16 0 0 0 0 LOC729020 729020 broad.mit.edu 37 10 105005908 105005908 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr10:105005908C>T uc009xxi.2 + 1 265 c.155C>T c.(154-156)CCT>CTT p.P52L uc001kwr.2_Intron NM_001143909 NP_001137381 Q2QD12 Q2QD12_HUMAN rcRPE protein 52 carbohydrate metabolic process ribulose-phosphate 3-epimerase activity 0 TTTGGTCACCCTGTGGTAGAA 0.507 NA 37 188 0 0 0 0 PDCD11 22984 broad.mit.edu 37 10 105201732 105201732 + Silent SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr10:105201732G>A uc001kwy.1 + 31 4794 c.4707G>A c.(4705-4707)ACG>ACA p.T1569T NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1569 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ACCAAGCCACGGTGCTGTATT 0.572 NA 5 35 0 0 0 0 C11orf41 25758 broad.mit.edu 37 11 33564673 33564673 + Missense_Mutation SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr11:33564673G>C uc001mup.3 + 1 797 c.673G>C c.(673-675)GAA>CAA p.E225Q C11orf41_uc001mun.1_Missense_Mutation_p.E225Q NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 225 integral to membrane ovary(2) 2 TCCTGTGCCAGAAATGCCCAC 0.537 NA OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 74 0 0 0 0 OR5D18 219438 broad.mit.edu 37 11 55587567 55587567 + Silent SNP C C G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr11:55587567C>G uc010rin.1 + 1 462 c.462C>G c.(460-462)GTC>GTG p.V154V NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CCTGGGGAGTCTCATGTTCCT 0.478 NA 34 138 0 0 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756943 56756943 + Silent SNP T T G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr11:56756943T>G uc010rjp.1 + 1 555 c.555T>G c.(553-555)CTT>CTG p.L185L NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 CCCCTATTCTTGCTCTTTCAT 0.403 NA 48 221 0 0 0 0 PICALM 8301 broad.mit.edu 37 11 85779753 85779753 + Missense_Mutation SNP T T G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr11:85779753T>G uc001pbm.2 - 1 356 c.70A>C c.(70-72)AAG>CAG p.K24Q PICALM_uc001pbl.2_Missense_Mutation_p.K24Q|PICALM_uc001pbn.2_Missense_Mutation_p.K24Q|PICALM_uc010rtl.1_Intron NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 24 ENTH. clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) CATACTGTCTTGGATACGGCA 0.537 NA T MLLT10|MLL TALL|AML| 10 16 0 0 0 0 FOXJ2 55810 broad.mit.edu 37 12 8200482 8200482 + Missense_Mutation SNP T T A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:8200482T>A uc001qtu.2 + 7 1907 c.822T>A c.(820-822)TTT>TTA p.F274L FOXJ2_uc001qtt.1_Missense_Mutation_p.F274L NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN forkhead box J2 274 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA 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 factor binding upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 Kidney(36;0.0944) CTGCAGGCTTTTCTTCTCTCC 0.368 NA 18 67 0 0 0 0 ATF1 466 broad.mit.edu 37 12 51173954 51173954 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:51173954C>T uc001rww.3 + 2 304 c.26C>T c.(25-27)ACG>ATG p.T9M ATF1_uc010smu.1_Translation_Start_Site NM_005171 NP_005162 P18846 ATF1_HUMAN activating transcription factor 1 9 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway EWSR1/ATF1(323)|FUS/ATF1(4) soft_tissue(321)|ovary(2)|NS(2)|bone(2)|skin(2) 329 AAGAGTACCACGTCAGAGACA 0.408 NA T EWSR1|FUS malignant melanoma of soft parts |angiomatoid fibrous histiocytoma 68 177 0 0 0 0 RIC8B 55188 broad.mit.edu 37 12 107254159 107254159 + Missense_Mutation SNP G G T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:107254159G>T uc001tlx.2 + 8 1545 c.1420G>T c.(1420-1422)GAC>TAC p.D474Y RIC8B_uc001tlw.2_Missense_Mutation_p.D474Y|RIC8B_uc001tly.2_Missense_Mutation_p.D434Y|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 474 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 TGAGGACACAGACACTGAAGA 0.438 NA 6 31 3.6e-05 4.27e-05 1 0 ATP2A2 488 broad.mit.edu 37 12 110783837 110783837 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:110783837C>T uc001tqk.3 + 19 3336 c.2773C>T c.(2773-2775)CCC>TCC p.P925S ATP2A2_uc001tql.3_Missense_Mutation_p.P925S|ATP2A2_uc010sxy.1_Missense_Mutation_p.P898S|ATP2A2_uc001tqn.3_Missense_Mutation_p.P2S|ATP2A2_uc009zvn.2_5'Flank NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 925 Cytoplasmic (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 GCTGAGGATGCCCCCCTGGGA 0.577 NA 4 83 0 0 0 0 C12orf52 84934 broad.mit.edu 37 12 113624689 113624689 + Silent SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:113624689G>A uc001tur.1 + 3 606 c.138G>A c.(136-138)CGG>CGA p.R46R DDX54_uc001tuq.3_5'Flank|DDX54_uc001tup.2_5'Flank|C12orf52_uc009zwg.1_Silent_p.R46R|C12orf52_uc001tus.1_Silent_p.R46R|C12orf52_uc001tut.1_Silent_p.R70R NM_032848 NP_116237 Q96K30 RITA_HUMAN hypothetical protein LOC84934 46 negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding 0 CAGGCACCCGGCCTACCCCAC 0.642 NA 7 31 0 0 0 0 FAM155A 728215 broad.mit.edu 37 13 107863084 107863084 + Missense_Mutation SNP A A T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr13:107863084A>T uc001vql.2 - 2 1451 c.935T>A c.(934-936)CTC>CAC p.L312H NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 312 integral to membrane binding skin(1) 1 CTGGGAACAGAGCCAGGCTTT 0.413 NA OREG0022506 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 41 0 0 0 0 COL4A2 1284 broad.mit.edu 37 13 111117869 111117869 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr13:111117869C>T uc001vqx.2 + 25 2183 c.1894C>T c.(1894-1896)CGT>TGT p.R632C NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 632 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CAAAGGCCAACGTGGTTTCCC 0.632 NA 9 34 0 0 0 0 ACYP1 97 broad.mit.edu 37 14 75520263 75520263 + Missense_Mutation SNP T T C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr14:75520263T>C uc001xrg.2 - 3 272 c.184A>G c.(184-186)ATG>GTG p.M62V MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.2_3'UTR NM_001107 NP_001098 P07311 ACYP1_HUMAN acylphosphatase 1 isoform a 62 Acylphosphatase-like. phosphate metabolic process acylphosphatase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00646) CATTCCTGCATATGACGCACC 0.468 NA 49 138 0 0 0 0 MARK3 4140 broad.mit.edu 37 14 103958157 103958157 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr14:103958157A>G uc001ymz.3 + 15 2296 c.1630A>G c.(1630-1632)ATC>GTC p.I544V MARK3_uc001ymx.3_Missense_Mutation_p.I544V|MARK3_uc001ymw.3_Missense_Mutation_p.I544V|MARK3_uc001yna.3_Missense_Mutation_p.I528V|MARK3_uc001ymy.3_Missense_Mutation_p.I465V|MARK3_uc010awp.2_Missense_Mutation_p.I567V|MARK3_uc010tyb.1_Missense_Mutation_p.I339V|MARK3_uc010awq.2_Missense_Mutation_p.I126V NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 544 ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) AACACACAGTATCAGTAGTGC 0.488 NA 11 45 0 0 0 0 FOXB1 27023 broad.mit.edu 37 15 60297484 60297484 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr15:60297484C>A uc002agj.1 + 2 801 c.322C>A c.(322-324)CGC>AGC p.R108S FOXB1_uc010bgh.1_Intron NM_012182 NP_036314 Q99853 FOXB1_HUMAN forkhead box B1 108 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|central_nervous_system(1) 2 GCGCCGCAAGCGCTTCAAGGT 0.706 NA 10 17 6.4e-05 7.42e-05 1 0 TLN2 83660 broad.mit.edu 37 15 62989996 62989996 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr15:62989996G>A uc002alb.3 + 12 1402 c.1402G>A c.(1402-1404)GTT>ATT p.V468I NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 468 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 GACCTTCAACGTTGGCAGCAT 0.667 NA 17 25 0 0 0 0 SLC38A7 55238 broad.mit.edu 37 16 58705074 58705074 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr16:58705074C>A uc002eod.1 - 10 1499 c.1106G>T c.(1105-1107)CGG>CTG p.R369L SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Missense_Mutation_p.R280L NM_018231 NP_060701 Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 369 amino acid transport|sodium ion transport integral to membrane ovary(1) 1 CAGCACTCGCCGCCGCCGCTC 0.667 NA 4 24 0.00909568 0.0096745 1 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652 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-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 48 0 0 0 0 PER1 5187 broad.mit.edu 37 17 8047139 8047139 + Silent SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:8047139G>A uc002gkd.2 - 19 2755 c.2517C>T c.(2515-2517)GCC>GCT p.A839A PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_Intron NM_002616 NP_002607 O15534 PER1_HUMAN period 1 839 Nuclear localization signal (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 GTGAGCGCTTGGCTTTGGATC 0.672 NA T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 16 35 0 0 0 0 HS3ST3B1 9953 broad.mit.edu 37 17 14205268 14205268 + Missense_Mutation SNP G G T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:14205268G>T uc002goh.1 + 1 763 c.433G>T c.(433-435)GTG>TTG p.V145L MGC12916_uc010vvv.1_5'Flank NM_006041 NP_006032 Q9Y662 HS3SB_HUMAN heparan sulfate D-glucosaminyl 145 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification Golgi membrane|integral to plasma membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) CATCATCGGCGTGAAGAAGGG 0.667 NA 4 19 2.56e-06 3.1e-06 1 0 KRT31 3881 broad.mit.edu 37 17 39551520 39551520 + Missense_Mutation SNP C C G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:39551520C>G uc002hwn.2 - 5 906 c.853G>C c.(853-855)GAG>CAG p.E285Q KRT31_uc010cxn.2_Missense_Mutation_p.E285Q NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 285 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) GCCTGCAGCTCGATCTCCAGG 0.607 NA 14 64 0 0 0 0 GJC1 10052 broad.mit.edu 37 17 42882699 42882699 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:42882699C>A uc002ihj.2 - 2 998 c.487G>T c.(487-489)GAT>TAT p.D163Y GJC1_uc002ihk.2_Missense_Mutation_p.D163Y|GJC1_uc002ihl.2_Missense_Mutation_p.D163Y|GJC1_uc010czx.2_Missense_Mutation_p.D163Y|GJC1_uc010czy.1_Missense_Mutation_p.D24Y NM_005497 NP_005488 P36383 CXG1_HUMAN connexin 45 163 Cytoplasmic (Potential). cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane 0 Prostate(33;0.0959) CGTCGGCCATCATGCTTAGGT 0.478 NA 27 127 6.13e-19 7.88e-19 1 0 HELZ 9931 broad.mit.edu 37 17 65174905 65174905 + Missense_Mutation SNP T T C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:65174905T>C uc010wqk.1 - 13 1487 c.1300A>G c.(1300-1302)ATT>GTT p.I434V HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.I434V NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GAGAGGGGAATTTGGTATCTG 0.383 NA 5 102 0 0 0 0 MC5R 4161 broad.mit.edu 37 18 13826449 13826449 + Silent SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr18:13826449C>A uc010xaf.1 + 1 685 c.685C>A c.(685-687)CGG>AGG p.R229R NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 229 Cytoplasmic (Potential). ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 CAGCTCTGCGCGGCAGAGGAC 0.617 NA 35 137 3.04e-20 3.93e-20 1 0 ZNF99 7652 broad.mit.edu 37 19 22940099 22940099 + Missense_Mutation SNP T T G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr19:22940099T>G uc010xrh.1 - 6 2232 c.2232A>C c.(2230-2232)AAA>AAC p.K744N 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) ATTTGTAGGGTTTCTTTCCAG 0.348 NA 12 55 0 0 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033054 52033054 + Silent SNP T T G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr19:52033054T>G uc002pwy.2 - 5 1098 c.936A>C c.(934-936)GCA>GCC p.A312A SIGLEC6_uc002pwz.2_Silent_p.A296A|SIGLEC6_uc002pxa.2_Silent_p.A312A|SIGLEC6_uc010ydb.1_Silent_p.A249A|SIGLEC6_uc010ydc.1_Silent_p.A312A|SIGLEC6_uc010eoz.1_Silent_p.A290A|SIGLEC6_uc010epb.1_Silent_p.A265A|SIGLEC6_uc010epa.1_Silent_p.A301A NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 312 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CTCCTTCTTCTGCAGACCCTA 0.607 NA 14 32 0 0 0 0 LCLAT1 253558 broad.mit.edu 37 2 30790956 30790956 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:30790956C>T uc002rnj.2 + 6 865 c.656C>T c.(655-657)GCT>GTT p.A219V LCLAT1_uc010ymp.1_Missense_Mutation_p.A57V|LCLAT1_uc002rnk.1_Missense_Mutation_p.A219V|LCLAT1_uc002rnl.2_Missense_Mutation_p.A181V|LCLAT1_uc010ymq.1_Missense_Mutation_p.A181V NM_182551 NP_872357 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 isoform 1 219 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity ovary(2) 2 AATGCATTTGCTGAAAAAAAT 0.338 NA 10 54 0 0 0 0 MOGS 7841 broad.mit.edu 37 2 74689540 74689540 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:74689540A>G uc010ffj.2 - 4 1539 c.1376T>C c.(1375-1377)GTT>GCT p.V459A MOGS_uc010ffh.2_Missense_Mutation_p.V184A|MOGS_uc010yrt.1_Missense_Mutation_p.V340A|MOGS_uc010ffi.2_Missense_Mutation_p.V353A NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 459 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 CCACCGCTGAACCACCAGCTG 0.597 NA 6 34 0 0 0 0 REEP1 65055 broad.mit.edu 37 2 86459838 86459838 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:86459838C>T uc002srh.3 - 6 649 c.505G>A c.(505-507)GGC>AGC p.G169S REEP1_uc010ytg.1_Missense_Mutation_p.G148S|REEP1_uc010yth.1_Missense_Mutation_p.G142S|REEP1_uc010yti.1_Silent_p.R90R NM_022912 NP_075063 Q9H902 REEP1_HUMAN receptor accessory protein 1 isoform 2 169 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding 0 GGTGGGGGGCCCGAGGGAGCA 0.647 NA 9 25 0 0 0 0 WIPF1 7456 broad.mit.edu 37 2 175437112 175437112 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:175437112A>G uc002uiy.2 - 6 753 c.421T>C c.(421-423)TTT>CTT p.F141L uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.F141L|WIPF1_uc010fqt.1_Missense_Mutation_p.F141L|WIPF1_uc002ujc.1_Missense_Mutation_p.F141L|WIPF1_uc002uiz.2_Missense_Mutation_p.F141L|WIPF1_uc002ujb.1_Missense_Mutation_p.F141L|WIPF1_uc010zep.1_Missense_Mutation_p.F141L NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 141 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GGGGGTGAAAAGGGTTTCGCA 0.562 NA 3 51 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212426697 212426697 + Missense_Mutation SNP C C G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:212426697C>G uc002veg.1 - 20 2516 c.2418G>C c.(2416-2418)GAG>GAC p.E806D ERBB4_uc002veh.1_Missense_Mutation_p.E806D|ERBB4_uc010zji.1_Missense_Mutation_p.E796D|ERBB4_uc010zjj.1_Missense_Mutation_p.E796D|ERBB4_uc010fut.1_Missense_Mutation_p.E806D NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 806 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CGTGGACATACTCCAACAGGC 0.483 NA TSP Lung(8;0.080) 27 106 0 0 0 0 MCM8 84515 broad.mit.edu 37 20 5974238 5974238 + Missense_Mutation SNP C C G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr20:5974238C>G uc002wmi.2 + 18 2704 c.2327C>G c.(2326-2328)GCG>GGG p.A776G MCM8_uc002wmj.2_Missense_Mutation_p.A760G|MCM8_uc002wmk.2_Missense_Mutation_p.A816G|MCM8_uc002wml.2_Missense_Mutation_p.A776G|MCM8_uc010gbp.2_Missense_Mutation_p.A729G|MCM8_uc002wmm.2_Missense_Mutation_p.A314G NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 776 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 AGGTCAACAGCGAAAAGATTT 0.368 NA 18 93 0 0 0 0 PKIG 11142 broad.mit.edu 37 20 43246985 43246985 + Missense_Mutation SNP G G T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr20:43246985G>T uc002xmg.2 + 6 740 c.211G>T c.(211-213)GAT>TAT p.D71Y PKIG_uc002xmh.2_Missense_Mutation_p.D71Y|PKIG_uc002xmi.2_Missense_Mutation_p.D71Y NM_181805 NP_861521 Q9Y2B9 IPKG_HUMAN cAMP-dependent protein kinase inhibitor gamma 71 cAMP-dependent protein kinase inhibitor activity|protein binding 0 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189) CCAGAGCAGCGATGGGACCAC 0.587 NA 37 132 9.63e-15 1.22e-14 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47591350 47591350 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr20:47591350C>T uc002xtx.3 + 13 1865 c.1713C>T c.(1711-1713)CTC>CTT p.L571L NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 571 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGTCCATTCTCAAGTGCATGG 0.507 NA 8 17 0 0 0 0 SON 6651 broad.mit.edu 37 21 34931551 34931551 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr21:34931551G>A uc002yse.1 + 5 6386 c.6337G>A c.(6337-6339)GCA>ACA p.A2113T SON_uc002ysc.2_Missense_Mutation_p.A2113T|SON_uc002ysd.2_Missense_Mutation_p.A1104T|SON_uc002ysf.1_Missense_Mutation_p.A141T|SON_uc002ysg.2_Missense_Mutation_p.A1104T NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 2113 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 TAAACAGATCGCACAGAGTAA 0.308 NA 12 42 0 0 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951241 30951241 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr22:30951241C>A uc003aig.1 - 4 1111 c.971G>T c.(970-972)CGG>CTG p.R324L GAL3ST1_uc003aih.1_Missense_Mutation_p.R324L|GAL3ST1_uc003aii.1_Missense_Mutation_p.R324L|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R324L NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 324 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 CATGCGCTCCCGCCCGAAGGC 0.711 NA 5 10 3.6e-05 4.27e-05 1 0 TUBGCP6 85378 broad.mit.edu 37 22 50664505 50664505 + Missense_Mutation SNP T T A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr22:50664505T>A uc003bkb.1 - 9 2319 c.1807A>T c.(1807-1809)AAC>TAC p.N603Y TUBGCP6_uc010har.1_Missense_Mutation_p.N603Y|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 603 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TTCAGCAGGTTAATGGTCTTT 0.582 NA 6 140 0 0 0 0 STAB1 23166 broad.mit.edu 37 3 52557481 52557481 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr3:52557481C>A uc003dej.2 + 65 7253 c.7179C>A c.(7177-7179)AAC>AAA p.N2393K STAB1_uc003dek.1_Missense_Mutation_p.N408K|STAB1_uc003del.2_Missense_Mutation_p.N280K NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 2393 Extracellular (Potential).|FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ATGCCTCCAACGCCACCCTCC 0.617 NA 9 21 7.48e-07 9.22e-07 1 0 GTF2E1 2960 broad.mit.edu 37 3 120469672 120469672 + Nonsense_Mutation SNP C C G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr3:120469672C>G uc003edz.3 + 2 387 c.273C>G c.(271-273)TAC>TAG p.Y91* GTF2E1_uc003edy.2_Nonsense_Mutation_p.Y91* NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 91 HTH TFE/IIEalpha-type. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) GCCATAACTACTACTTCATCA 0.398 NA 9 38 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 10 99 0 0 0 0 MEPE 56955 broad.mit.edu 37 4 88755893 88755893 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr4:88755893C>T uc003hqy.2 + 2 66 c.27C>T c.(25-27)CTC>CTT p.L9L MEPE_uc010ikn.2_5'UTR NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 9 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) TGGGACTACTCCTTTTCAGTG 0.368 NA 17 76 0 0 0 0 FAM190A 401145 broad.mit.edu 37 4 91229530 91229530 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr4:91229530C>T uc003hsv.3 + 2 435 c.95C>T c.(94-96)TCA>TTA p.S32L FAM190A_uc003hsu.3_Missense_Mutation_p.S32L|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.S32L NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 32 Ser-rich. large_intestine(1)|ovary(1) 2 CTTCCTTCTTCACCTTCTTCC 0.468 NA 6 34 0 0 0 0 PCDH10 57575 broad.mit.edu 37 4 134072815 134072815 + Missense_Mutation SNP T T C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr4:134072815T>C uc003iha.2 + 1 2346 c.1520T>C c.(1519-1521)ATC>ACC p.I507T uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.I507T NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 507 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GAGTGCCAGATCCAGGGCATG 0.577 NA 22 71 0 0 0 0 SNX25 83891 broad.mit.edu 37 4 186283809 186283809 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr4:186283809A>G uc003ixh.2 + 18 2575 c.2386A>G c.(2386-2388)ATA>GTA p.I796V SNX25_uc010ish.2_Missense_Mutation_p.I512V|SNX25_uc003ixi.2_Missense_Mutation_p.I300V NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 796 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CCGCCACGGTATAATAAAAAT 0.388 NA 58 194 0 0 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629960 9629960 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr5:9629960A>G uc003jem.1 - 1 504 c.185T>C c.(184-186)ATC>ACC p.I62T NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 62 Helical; Name=2; (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 AACGTAGAAGATGAACAACTG 0.368 NA 22 28 0 0 0 0 MGC42105 167359 broad.mit.edu 37 5 43280501 43280501 + Silent SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr5:43280501G>C uc003jno.2 + 4 1862 c.981G>C c.(979-981)GGG>GGC p.G327G NM_153361 NP_699192 Q8IY84 NIM1_HUMAN serine/threonine-protein kinase NIM1 327 ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1) 9 GGATGCAAGGGGTGCCATACC 0.502 NA 17 74 0 0 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27100994 27100994 + Silent SNP G G T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:27100994G>T uc003niw.2 + 1 178 c.144G>T c.(142-144)GCG>GCT p.A48A HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 48 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 GGGCCGGCGCGCCGGTGTATC 0.682 NA 14 58 9.31e-06 1.12e-05 1 0 OR12D2 26529 broad.mit.edu 37 6 29365111 29365111 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:29365111C>T uc003nmf.3 + 1 696 c.635C>T c.(634-636)ACA>ATA p.T212I NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTCTTTCTGACACTTCTCTCC 0.468 NA 22 147 0 0 0 0 VPS52 6293 broad.mit.edu 37 6 33234453 33234453 + Missense_Mutation SNP C C T rs146611103 TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:33234453C>T uc003odm.1 - 12 1372 c.1162G>A c.(1162-1164)GCC>ACC p.A388T VPS52_uc003odn.1_Missense_Mutation_p.A199T NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 388 protein transport endosome membrane|Golgi apparatus ovary(4)|skin(1) 5 TCTAGGAGGGCGTAGTGCTGG 0.522 NA 7 51 0 0 0 0 SLC2A12 154091 broad.mit.edu 37 6 134349644 134349644 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:134349644G>A uc003qem.1 - 2 1490 c.1319C>T c.(1318-1320)GCT>GTT p.A440V NM_145176 NP_660159 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose 440 Extracellular (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity ovary(1) 1 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) GCTTAATCCAGCATTTAGCAA 0.478 NA 21 73 0 0 0 0 LATS1 9113 broad.mit.edu 37 6 150001304 150001304 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:150001304C>A uc003qmu.1 - 5 2848 c.2300G>T c.(2299-2301)CGT>CTT p.R767L LATS1_uc010kif.1_Missense_Mutation_p.R662L|LATS1_uc003qmv.1_Missense_Mutation_p.R767L NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 767 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) ATAATATAGACGAACTACCCA 0.373 NA 22 58 3.8e-18 4.83e-18 1 0 TAGAP 117289 broad.mit.edu 37 6 159457736 159457736 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:159457736A>G uc003qrz.2 - 10 1651 c.1319T>C c.(1318-1320)CTG>CCG p.L440P TAGAP_uc011eft.1_Missense_Mutation_p.L377P|TAGAP_uc003qsa.2_Missense_Mutation_p.L262P NM_054114 NP_473455 Q8N103 TAGAP_HUMAN T-cell activation Rho GTPase-activating protein 440 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CTTGATCTTCAGGTCCACCGG 0.612 NA 4 101 0 0 0 0 GPR22 2845 broad.mit.edu 37 7 107114861 107114861 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr7:107114861A>G uc003vef.2 + 3 1702 c.356A>G c.(355-357)GAG>GGG p.E119G COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron NM_005295 NP_005286 Q99680 GPR22_HUMAN G protein-coupled receptor 22 119 Helical; Name=3; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 TGTTTCCATGAGGCTTGTGTA 0.388 NA 28 81 0 0 0 0 GRM8 2918 broad.mit.edu 37 7 126746588 126746588 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr7:126746588C>T uc003vlr.2 - 2 1000 c.689G>A c.(688-690)AGC>AAC p.S230N GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S230N|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 230 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTCCACACCGCTCTCACCATA 0.507 NA HNSCC(24;0.065) 10 35 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 3351179 3351179 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:3351179C>T uc011kwk.1 - 11 1807 c.1417G>A c.(1417-1419)GGG>AGG p.G473R NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 473 CUB 3.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCCACCTTCCCAGCATCACCA 0.507 NA 4 9 0 0 0 0 TEX15 56154 broad.mit.edu 37 8 30703495 30703495 + Silent SNP T T C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:30703495T>C uc003xil.2 - 1 3039 c.3039A>G c.(3037-3039)ACA>ACG p.T1013T NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1013 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GCTGCAAAGATGTGTGAACTC 0.343 NA 42 98 0 0 0 0 IDO1 3620 broad.mit.edu 37 8 39785691 39785691 + Missense_Mutation SNP T T G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:39785691T>G uc003xnm.2 + 10 1313 c.1199T>G c.(1198-1200)TTG>TGG p.L400W IDO1_uc003xnn.2_RNA NM_002164 NP_002155 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 400 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2) 2 L-Tryptophan(DB00150) AAATCCCTTTTGAAGGAAGGT 0.398 NA 4 15 0 0 0 0 SGK3 23678 broad.mit.edu 37 8 67771691 67771691 + Missense_Mutation SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:67771691G>C uc003xwr.2 + 17 1665 c.1366G>C c.(1366-1368)GAA>CAA p.E456Q SGK3_uc003xwp.2_Missense_Mutation_p.E450Q|SGK3_uc003xwt.2_Missense_Mutation_p.E456Q|SGK3_uc003xwu.2_Missense_Mutation_p.E424Q NM_001033578 NP_001028750 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase 3 isoform 456 AGC-kinase C-terminal. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity ovary(1)|large_intestine(1)|lung(1)|breast(1) 4 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) ATTTACAGAAGAAACAGTTCC 0.363 NA 36 72 0 0 0 0 ABRA 137735 broad.mit.edu 37 8 107782152 107782152 + Silent SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:107782152A>G uc003ymm.3 - 1 321 c.267T>C c.(265-267)CAT>CAC p.H89H NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 89 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GTCCATCTCCATGTCCTTCTG 0.532 NA 13 129 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144940804 144940804 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:144940804C>T uc003zaa.1 - 1 6631 c.6618G>A c.(6616-6618)ACG>ACA p.T2206T NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2206 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTCTTGCGTCGTGCTCCGTC 0.622 NA 49 196 0 0 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145724384 145724384 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:145724384C>T uc003zdd.2 + 4 1329 c.416C>T c.(415-417)ACG>ATG p.T139M uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.T139M NM_032902 NP_116291 Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory (inhibitor) 139 ANK 3. plasma membrane protein binding 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GAGTGCTGGACGCCTCTGCAT 0.622 NA 10 49 0 0 0 0 DDX58 23586 broad.mit.edu 37 9 32488812 32488812 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr9:32488812C>T uc003zra.2 - 7 1031 c.873G>A c.(871-873)GGG>GGA p.G291G DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Silent_p.G246G|DDX58_uc011lnr.1_Silent_p.G88G|DDX58_uc010mji.2_Silent_p.G220G NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 291 Helicase ATP-binding. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) AGACAACTTTCCCCTTTTGTC 0.338 NA 10 29 0 0 0 0 MAOA 4128 broad.mit.edu 37 X 43590580 43590580 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chrX:43590580C>T uc004dfy.2 + 7 919 c.738C>T c.(736-738)CAC>CAT p.H246H MAOA_uc011mkw.1_Silent_p.H113H NM_000240 NP_000231 P21397 AOFA_HUMAN monoamine oxidase A 246 Cytoplasmic. behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding breast(2)|ovary(1) 3 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) CTGTCACTCACGTTGACCAGT 0.453 NA 22 14 0 0 0 0 BCORL1 63035 broad.mit.edu 37 X 129147297 129147297 + Silent SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chrX:129147297C>A uc004evb.1 + 4 663 c.549C>A c.(547-549)GTC>GTA p.V183V BCORL1_uc010nrd.1_Silent_p.V85V NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 183 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 GAACTGGAGTCCCTGTGGAGG 0.577 NA 9 30 0.000978159 0.00110043 1 0 NRD1 4898 broad.mit.edu 37 1 52256303 52256304 + Frame_Shift_Ins INS - - CC TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:52256303_52256304insCC uc001ctc.3 - 31 3595_3596 c.3273_3274insGG c.(3271-3276)AAGCTGfs p.K1091fs NRD1_uc009vzb.2_Frame_Shift_Ins_p.K786fs|NRD1_uc001ctd.3_Frame_Shift_Ins_p.K1023fs|NRD1_uc001cte.2_Frame_Shift_Ins_p.K959fs NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 1022_1023 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 CACTCCTTCAGCTTGATGAGAG 0.545 NA 14 67 --- --- --- --- NA NA NA NA RBM15 64783 broad.mit.edu 37 1 110884597 110884598 + Frame_Shift_Ins INS - - T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:110884597_110884598insT uc001dzl.1 + 1 2653_2654 c.2570_2571insT c.(2569-2571)TATfs p.Y857fs RBM15_uc001dzm.1_Frame_Shift_Ins_p.Y857fs|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 857 SPOC. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CCCAATGGTTATGCCATTCTTT 0.54 NA T MKL1 acute megakaryocytic leukemia 53 111 --- --- --- --- NA NA NA NA ZNF687 57592 broad.mit.edu 37 1 151261022 151261023 + Frame_Shift_Ins INS - - T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:151261022_151261023insT uc001exq.2 + 3 2232_2233 c.2134_2135insT c.(2134-2136)ATGfs p.M712fs ZNF687_uc009wmo.2_Frame_Shift_Ins_p.M712fs|ZNF687_uc009wmp.2_Frame_Shift_Ins_p.M712fs NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 712 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AACCTGCCCCATGATGCTCCCC 0.574 NA 16 50 --- --- --- --- NA NA NA NA TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:113704096_113704098delCTG uc001tuw.2 + 4 646_648 c.349_351delCTG c.(349-351)CTGdel p.L122del TPCN1_uc001tux.2_In_Frame_Del_p.L194del|TPCN1_uc010syt.1_In_Frame_Del_p.L54del NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 122 Helical; Name=S1 of repeat I; (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 GGCCACGGCCCTGCTGCTGCTGC 0.64 NA 8 455 --- --- --- --- NA NA NA NA ZBTB25 7597 broad.mit.edu 37 14 64954345 64954345 + Frame_Shift_Del DEL A A - TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr14:64954345delA uc001xhf.2 - 3 787 c.604delT c.(604-606)TCCfs p.S202fs ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Frame_Shift_Del_p.S202fs NM_006977 NP_008908 P24278 ZBT25_HUMAN zinc finger protein 46 202 cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) TGCTTGATGGAAACTGGGGGC 0.567 NA 61 221 --- --- --- --- NA NA NA NA TGOLN2 10618 broad.mit.edu 37 2 85554626 85554627 + In_Frame_Ins INS - - GGT rs76078295 TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:85554626_85554627insGGT uc010fgd.1 - 2 517_518 c.228_229insACC c.(226-231)insACC p.76_77insT TGOLN2_uc002soz.2_In_Frame_Ins_p.76_77insT|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_In_Frame_Ins_p.76_77insT|TGOLN2_uc002spc.1_In_Frame_Ins_p.76_77insT NM_006464 NP_006455 O43493 TGON2_HUMAN trans-golgi network protein 2 76_77 Extracellular (Potential).|14 X 14 AA tandem repeats.|2. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding 0 GTGTCTTCTGGGGTCTGCGCCT 0.599 NA 33 300 --- --- --- --- NA NA NA NA USP9X 8239 broad.mit.edu 37 X 41088557 41088563 + Frame_Shift_Del DEL CACAATC CACAATC - TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chrX:41088557_41088563delCACAATC uc004dfb.2 + 42 7746_7752 c.7113_7119delCACAATC c.(7111-7119)GACACAATCfs p.D2371fs USP9X_uc004dfc.2_Frame_Shift_Del_p.D2371fs NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 2371_2373 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 GGCTGTTTGACACAATCCAGCGCTCTA 0.353 NA 5 5 --- --- --- --- NA NA NA NA