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 filter MEGF6 1953 broad.mit.edu 37 1 3427347 3427347 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:3427347C>G uc001akl.2 - 10 1461 c.1234G>C c.(1234-1236)GAT>CAT p.D412H MEGF6_uc001akk.2_Missense_Mutation_p.D307H NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 412 EGF-like 8; calcium-binding (Potential). extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CAGTGCTCACCCTCACAGCCG 0.687 5 13 --- --- --- --- PASS CLSTN1 22883 broad.mit.edu 37 1 9791327 9791327 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:9791327G>A uc001aqh.2 - 18 3444 c.2685C>T c.(2683-2685)ACC>ACT p.T895T CLSTN1_uc001aqi.2_Silent_p.T885T|CLSTN1_uc010oag.1_Silent_p.T876T|CLSTN1_uc001aqf.2_Silent_p.T131T NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 895 Cytoplasmic (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) TCTCCTTCCCGGTGTCCTGAT 0.607 40 155 --- --- --- --- PASS PRDM2 7799 broad.mit.edu 37 1 14106310 14106310 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:14106310A>G uc001avi.2 + 8 2876 c.2020A>G c.(2020-2022)ACA>GCA p.T674A PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.T674A|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.T431A|PRDM2_uc001avk.2_Missense_Mutation_p.T473A|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 674 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CATATCAACAACAGAGGCAGT 0.443 86 110 --- --- --- --- PASS PADI6 353238 broad.mit.edu 37 1 17699703 17699703 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:17699703C>A uc001bak.1 + 2 269 c.269C>A c.(268-270)CCC>CAC p.P90H NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 82 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) ATGACATCGCCCAGCCCTTCC 0.607 11 76 --- --- --- --- PASS RHD 6007 broad.mit.edu 37 1 25627554 25627554 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:25627554G>A uc001bjz.2 + 4 662 c.604G>A c.(604-606)GCA>ACA p.A202T RHD_uc010oep.1_Missense_Mutation_p.A202T|RHD_uc001bkc.2_Missense_Mutation_p.A202T|RHD_uc009vrm.2_Missense_Mutation_p.A34T|RHD_uc001bka.2_Missense_Mutation_p.A202T|RHD_uc001bkb.2_Missense_Mutation_p.A202T|RHD_uc009vrn.2_Missense_Mutation_p.A202T|RHD_uc009vro.2_Missense_Mutation_p.A202T|RHD_uc009vrp.2_Missense_Mutation_p.A202T NM_016124 NP_057208 Q02161 RHD_HUMAN Rh blood group D antigen isoform 1 202 integral to plasma membrane breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGATCAGACAGCAACGATACC 0.547 112 31 --- --- --- --- PASS TMEM57 55219 broad.mit.edu 37 1 25785216 25785216 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:25785216G>A uc001bkk.2 + 6 1189 c.987G>A c.(985-987)GTG>GTA p.V329V TMEM57_uc009vru.2_Intron|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_RNA NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN transmembrane protein 57 329 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) GTGGAGTTGTGAACTCTTCAC 0.398 28 278 --- --- --- --- PASS EXTL1 2134 broad.mit.edu 37 1 26360264 26360264 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:26360264C>T uc001blf.2 + 9 2463 c.1596C>T c.(1594-1596)GAC>GAT p.D532D NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 532 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) ATTTCTGGGACGAGGCCCATG 0.587 45 132 --- --- --- --- PASS INPP5B 3633 broad.mit.edu 37 1 38409540 38409540 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:38409540T>C uc001ccg.1 - 4 272 c.178A>G c.(178-180)ATG>GTG p.M60V INPP5B_uc009vvk.1_Missense_Mutation_p.M1V|INPP5B_uc001cch.2_Missense_Mutation_p.M1V NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 60 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GTAATGGCCATCCTCCGGTGC 0.597 58 79 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39800990 39800990 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:39800990G>C uc010oiu.1 + 1 4181 c.4050G>C c.(4048-4050)CAG>CAC p.Q1350H MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2915 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATGAAGAGCAGGAAAAAGCAG 0.353 71 87 --- --- --- --- PASS HOOK1 51361 broad.mit.edu 37 1 60330309 60330309 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:60330309C>A uc009wad.2 + 18 1734 c.1632C>A c.(1630-1632)AGC>AGA p.S544R HOOK1_uc001czo.2_Missense_Mutation_p.S544R|HOOK1_uc001czp.2_Intron|HOOK1_uc010oor.1_Missense_Mutation_p.S502R NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 544 Sufficient for interaction with microtubules.|Potential. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) TATAGTCCAGCAAATTAAAGC 0.328 42 77 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75114930 75114930 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:75114930C>T uc001dgg.2 - 2 312 c.93G>A c.(91-93)AGG>AGA p.R31R NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 31 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AGAGATGACGCCTTATCCTTG 0.353 69 104 --- --- --- --- PASS LHX8 431707 broad.mit.edu 37 1 75606791 75606791 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:75606791G>T uc001dgo.2 + 5 1053 c.389G>T c.(388-390)AGA>ATA p.R130I LHX8_uc001dgq.2_Missense_Mutation_p.R69I NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 130 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GATTATTTCAGGTATGCTGTG 0.358 31 141 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79404919 79404919 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:79404919A>G uc001diq.3 - 4 506 c.350T>C c.(349-351)TTA>TCA p.L117S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 117 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GACATTATCTAAATGGCAGTT 0.244 10 10 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94564446 94564446 + Silent SNP C A A rs140972064 byFrequency TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:94564446C>A uc001dqh.2 - 6 776 c.672G>T c.(670-672)ACG>ACT p.T224T ABCA4_uc010otn.1_Silent_p.T224T NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 224 Extracellular. T -> M (in a breast cancer sample; somatic mutation). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.T224M(1) ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CATAGCGCACCGTCTTTGCCC 0.597 22 84 --- --- --- --- PASS ARHGAP29 9411 broad.mit.edu 37 1 94685905 94685905 + Silent SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:94685905G>T uc001dqj.3 - 3 618 c.249C>A c.(247-249)CTC>CTA p.L83L ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Silent_p.L83L NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 83 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) TTAAAACACGGAGCAGTTCCT 0.308 95 92 --- --- --- --- PASS SLC25A24 29957 broad.mit.edu 37 1 108681680 108681680 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:108681680C>A uc001dvn.3 - 9 1463 c.1249G>T c.(1249-1251)GCC>TCC p.A417S SLC25A24_uc001dvm.2_Missense_Mutation_p.A398S NM_013386 NP_037518 Q6NUK1 SCMC1_HUMAN solute carrier family 25 member 24 isoform 1 417 Mitochondrial matrix (Potential).|Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1) 1 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) AAAAATTCACCTTGAGCCTGC 0.473 17 95 --- --- --- --- PASS CSDE1 7812 broad.mit.edu 37 1 115275301 115275301 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:115275301C>T uc001efk.2 - 10 1440 c.974G>A c.(973-975)CGT>CAT p.R325H CSDE1_uc001efi.2_Missense_Mutation_p.R371H|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.R294H|CSDE1_uc001efm.2_Missense_Mutation_p.R340H|CSDE1_uc009wgv.2_Missense_Mutation_p.R325H|CSDE1_uc001efn.2_Missense_Mutation_p.R294H NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 325 CSD 4; truncated. 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) TAATTTGTCACGTCGGTCTGT 0.403 22 328 --- --- --- --- PASS SYCP1 6847 broad.mit.edu 37 1 115537564 115537564 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:115537564G>A uc001efr.2 + 32 3064 c.2855G>A c.(2854-2856)CGG>CAG p.R952Q SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R952Q|SYCP1_uc009wgw.2_Missense_Mutation_p.R927Q NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 952 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) AGAAAAATGCGGGAGGACCGT 0.333 7 214 --- --- --- --- PASS TCHH 7062 broad.mit.edu 37 1 152084302 152084302 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:152084302G>C uc001ezp.2 - 2 1391 c.1391C>G c.(1390-1392)ACG>AGG p.T464R TCHH_uc009wne.1_Missense_Mutation_p.T464R NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 464 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) gtgcctctccgtctcctcctc 0.139 22 158 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152193243 152193243 + Missense_Mutation SNP A T T rs150800529 by1000genomes TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:152193243A>T uc001ezt.1 - 3 938 c.862T>A c.(862-864)TCT>ACT p.S288T NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 288 3. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGGGAACCAGACCCATGCTGA 0.597 77 733 --- --- --- --- PASS LENEP 55891 broad.mit.edu 37 1 154966181 154966181 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:154966181G>A uc001fgi.2 + 1 120 c.98G>A c.(97-99)GGC>GAC p.G33D NM_018655 NP_061125 Q9Y5L5 LENEP_HUMAN lens epithelial protein 33 multicellular organismal development DNA binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) ATTAAGATGGGCACAGGGTGG 0.607 9 210 --- --- --- --- PASS MUC1 4582 broad.mit.edu 37 1 155162052 155162052 + Silent SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:155162052T>A uc010pft.1 - 2 147 c.81A>T c.(79-81)GCA>GCT p.A27A RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_5'UTR|MUC1_uc010pfc.1_RNA|MUC1_uc009wph.2_5'UTR|MUC1_uc010pfd.1_Missense_Mutation_p.Q2L|MUC1_uc010pfe.1_RNA|MUC1_uc010pff.1_Missense_Mutation_p.Q76L|MUC1_uc009wpi.2_5'UTR|MUC1_uc010pfg.1_RNA|MUC1_uc010pfh.1_Missense_Mutation_p.Q76L|MUC1_uc010pfi.1_Missense_Mutation_p.Q76L|MUC1_uc010pfj.1_Missense_Mutation_p.Q76L|MUC1_uc010pfk.1_RNA|MUC1_uc010pfl.1_RNA|MUC1_uc001fin.2_Silent_p.A36A|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Missense_Mutation_p.Q2L|MUC1_uc009wqg.2_Missense_Mutation_p.Q2L|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Silent_p.A36A|MUC1_uc009wpt.2_Silent_p.A36A|MUC1_uc001fic.2_Silent_p.A27A|MUC1_uc009wpu.2_RNA|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Missense_Mutation_p.Q2L|MUC1_uc001fim.2_Silent_p.A27A|MUC1_uc001fib.2_Missense_Mutation_p.Q2L|MUC1_uc009wpw.2_Silent_p.A36A|MUC1_uc001fie.2_Silent_p.A27A|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Silent_p.A36A|MUC1_uc001fif.2_Silent_p.A27A|MUC1_uc009wpx.2_Silent_p.A36A|MUC1_uc001fid.2_Silent_p.A27A|MUC1_uc009wpj.2_RNA|MUC1_uc001fij.2_Silent_p.A36A|MUC1_uc009wpy.2_RNA|MUC1_uc010pfm.1_5'UTR|MUC1_uc001fiq.2_5'UTR|MUC1_uc009wpz.2_Silent_p.A36A|MUC1_uc010pfn.1_Silent_p.A27A|MUC1_uc009wqa.2_Missense_Mutation_p.Q2L|MUC1_uc010pfo.1_Missense_Mutation_p.Q2L|MUC1_uc010pfp.1_Missense_Mutation_p.Q2L|MUC1_uc001fii.2_RNA|MUC1_uc001fih.2_RNA|MUC1_uc001fia.2_Silent_p.A27A|MUC1_uc009wqc.2_Missense_Mutation_p.Q2L|MUC1_uc009wqd.2_Missense_Mutation_p.Q2L|MUC1_uc009wqb.2_5'UTR|MUC1_uc010pfq.1_Missense_Mutation_p.Q2L|MUC1_uc010pfr.1_Silent_p.A36A|MUC1_uc001fit.2_5'UTR|MUC1_uc009wqe.2_Silent_p.A36A|MUC1_uc001fil.2_Silent_p.A27A|MUC1_uc009wpm.2_Silent_p.A27A|MUC1_uc009wpp.2_Silent_p.A27A|MUC1_uc010pfs.1_RNA|MUC1_uc001fik.2_Silent_p.A27A|MUC1_uc001fio.2_Silent_p.A27A|MUC1_uc009wqf.2_Missense_Mutation_p.Q2L|MUC1_uc009wpl.2_Silent_p.A36A|MUC1_uc009wpn.2_Silent_p.A36A|MUC1_uc001fis.1_Silent_p.A27A|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Silent_p.A36A|MUC1_uc001fiw.1_Silent_p.A27A|MIR92B_hsa-mir-92b|MI0003560_5'Flank P15941 MUC1_HUMAN SubName: Full=MUC1 isoform M13; 27 Extracellular (Potential). apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGGTAGAGCTTGCATGACCAG 0.483 T IGH@ B-NHL 10 424 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158613124 158613124 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:158613124C>T uc001fst.1 - 31 4629 c.4430G>A c.(4429-4431)CGT>CAT p.R1477H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1477 Spectrin 14. 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) GTCTAGTACACGTTGGAGCCG 0.443 27 223 --- --- --- --- PASS PYHIN1 149628 broad.mit.edu 37 1 158908901 158908901 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:158908901G>C uc001ftb.2 + 4 688 c.443G>C c.(442-444)GGA>GCA p.G148A PYHIN1_uc001fta.3_Missense_Mutation_p.G148A|PYHIN1_uc001ftc.2_Missense_Mutation_p.G139A|PYHIN1_uc001ftd.2_Missense_Mutation_p.G148A|PYHIN1_uc001fte.2_Missense_Mutation_p.G139A NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 148 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) GAAGAGACTGGAACCAAAAGG 0.453 22 177 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175086168 175086168 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:175086168A>G uc001gkl.1 + 10 2326 c.2213A>G c.(2212-2214)TAT>TGT p.Y738C NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 738 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ATTGACAGGTATGTGGTGCGC 0.612 189 82 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176563832 176563832 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:176563832G>T uc001gkz.2 + 3 2256 c.1092G>T c.(1090-1092)TGG>TGT p.W364C PAPPA2_uc001gky.1_Missense_Mutation_p.W364C|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 364 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CAGGCACATGGACCCATGTGG 0.577 24 150 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 179993629 179993629 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:179993629C>T uc001gnt.2 + 14 3845 c.3462C>T c.(3460-3462)TCC>TCT p.S1154S CEP350_uc009wxl.2_Silent_p.S1153S|CEP350_uc001gnu.2_Silent_p.S987S NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1154 Ser-rich. centrosome|nucleus|spindle ovary(4) 4 ATGTTACCTCCCAGCATTCAT 0.413 36 232 --- --- --- --- PASS LAMC1 3915 broad.mit.edu 37 1 183086726 183086726 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:183086726G>T uc001gpy.3 + 10 2002 c.1745G>T c.(1744-1746)CGA>CTA p.R582L NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 582 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCTCCTTTCGAGTGGACAGG 0.498 214 104 --- --- --- --- PASS CFH 3075 broad.mit.edu 37 1 196695983 196695983 + Missense_Mutation SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:196695983T>A uc001gtj.3 + 14 2389 c.2149T>A c.(2149-2151)TTC>ATC p.F717I NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 717 Sushi 12. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TTCAGTGGAATTCAATTGCTC 0.438 59 314 --- --- --- --- PASS KISS1 3814 broad.mit.edu 37 1 204159850 204159850 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:204159850G>T uc001har.2 - 3 333 c.179C>A c.(178-180)GCT>GAT p.A60D NM_002256 NP_002247 Q15726 KISS1_HUMAN KiSS-1 metastasis-suppressor 60 cytoskeleton organization extracellular region protein binding ovary(1) 1 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) Breast(1374;9.42e-05) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239) Colorectal(1306;0.0129) CCTGGCAGTAGCAGCTGGCTT 0.721 12 11 --- --- --- --- PASS NFASC 23114 broad.mit.edu 37 1 204951102 204951102 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:204951102G>A uc001hbj.2 + 21 2752 c.2424G>A c.(2422-2424)GGG>GGA p.G808G NFASC_uc010pra.1_Silent_p.G804G|NFASC_uc001hbi.2_Silent_p.G804G|NFASC_uc010prb.1_Silent_p.G819G|NFASC_uc010prc.1_Silent_p.G375G|NFASC_uc001hbk.1_Silent_p.G614G|NFASC_uc001hbl.1_Silent_p.G58G NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 808 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ATGACTTCGGGAAGGGCCCTG 0.602 5 80 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216166470 216166470 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:216166470C>T uc001hku.1 - 35 7084 c.6697G>A c.(6697-6699)GAG>AAG p.E2233K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2233 Extracellular (Potential).|Fibronectin type-III 8. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTTAGGGCCTCACTGGCCTCA 0.502 HNSCC(13;0.011) OREG0014251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 82 368 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216737638 216737638 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:216737638A>G uc001hkw.1 - 5 951 c.785T>C c.(784-786)ATC>ACC p.I262T ESRRG_uc001hky.1_Missense_Mutation_p.I239T|ESRRG_uc009xdp.1_Missense_Mutation_p.I239T|ESRRG_uc001hkz.1_Missense_Mutation_p.I200T|ESRRG_uc010puc.1_Missense_Mutation_p.I239T|ESRRG_uc001hla.1_Missense_Mutation_p.I239T|ESRRG_uc001hlb.1_Missense_Mutation_p.I239T|ESRRG_uc010pud.1_Missense_Mutation_p.I70T|ESRRG_uc001hlc.1_Missense_Mutation_p.I239T|ESRRG_uc001hld.1_Missense_Mutation_p.I239T|ESRRG_uc001hkx.1_Missense_Mutation_p.I274T|ESRRG_uc009xdo.1_Missense_Mutation_p.I239T|ESRRG_uc001hle.1_Missense_Mutation_p.I239T NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 262 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GAGGGCTTTGATGTCACTGTC 0.478 54 265 --- --- --- --- PASS IRF2BP2 359948 broad.mit.edu 37 1 234743448 234743448 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:234743448G>A uc001hwg.2 - 2 1230 c.1199C>T c.(1198-1200)CCG>CTG p.P400L IRF2BP2_uc009xfw.2_Missense_Mutation_p.P10L|IRF2BP2_uc001hwf.2_Missense_Mutation_p.P384L NM_182972 NP_892017 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) GGGTGGTGGCGGAGACACAAA 0.612 24 148 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237905620 237905620 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:237905620G>A uc001hyl.1 + 80 11236 c.11116G>A c.(11116-11118)GAT>AAT p.D3706N RYR2_uc010pya.1_Missense_Mutation_p.D102N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3706 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGAAGATGACGATGGTGAAGA 0.318 4 25 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 240975293 240975293 + Missense_Mutation SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:240975293T>A uc001hyv.2 - 14 1337 c.1007A>T c.(1006-1008)GAG>GTG p.E336V RGS7_uc010pyh.1_Missense_Mutation_p.E310V|RGS7_uc010pyj.1_Missense_Mutation_p.E252V|RGS7_uc001hyu.2_Missense_Mutation_p.E336V|RGS7_uc009xgn.1_Missense_Mutation_p.E283V|RGS7_uc001hyw.2_Missense_Mutation_p.E336V|RGS7_uc001hyt.2_Missense_Mutation_p.E168V NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 336 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTTCAATGCCTCGTCCATGCC 0.398 13 470 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 241262037 241262037 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:241262037T>C uc001hyv.2 - 3 434 c.104A>G c.(103-105)CAA>CGA p.Q35R RGS7_uc010pyh.1_Missense_Mutation_p.Q9R|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.Q35R|RGS7_uc009xgn.1_Missense_Mutation_p.Q35R|RGS7_uc001hyw.2_Missense_Mutation_p.Q35R NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 35 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTTTTCATCTTGCATCCGTGC 0.338 28 231 --- --- --- --- PASS OPN3 23596 broad.mit.edu 37 1 241757787 241757787 + Silent SNP G A A rs151169647 TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:241757787G>A uc001hza.2 - 4 1297 c.1152C>T c.(1150-1152)GAC>GAT p.D384D KMO_uc009xgp.2_3'UTR|OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA NM_014322 NP_055137 Q9H1Y3 OPN3_HUMAN opsin 3 384 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity 0 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TGTCGCTGTCGTCAACTGACA 0.418 16 533 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242035439 242035439 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:242035439T>C uc001hzh.2 + 12 1913 c.1373T>C c.(1372-1374)GTG>GCG p.V458A EXO1_uc001hzi.2_Missense_Mutation_p.V458A|EXO1_uc001hzj.2_Missense_Mutation_p.V458A|EXO1_uc009xgq.2_Missense_Mutation_p.V457A NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 458 Interaction with MLH1. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) TTTTCTGAAGTGTTTGTGCCT 0.368 Direct_reversal_of_damage|Editing_and_processing_nucleases 5 257 --- --- --- --- PASS HNRNPU 3192 broad.mit.edu 37 1 245027151 245027151 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:245027151G>A uc001iaz.1 - 1 677 c.459C>T c.(457-459)GGC>GGT p.G153G HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Silent_p.G153G|HNRNPU_uc001ibb.1_Intron NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 153 Asp/Glu-rich (acidic). CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CGTTCTCGTCGCCCGCGCCTT 0.692 30 7 --- --- --- --- PASS OR2G2 81470 broad.mit.edu 37 1 247752207 247752207 + Silent SNP C T T rs146695930 byFrequency TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:247752207C>T uc010pyy.1 + 1 546 c.546C>T c.(544-546)TGC>TGT p.C182C NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATTTCATCTGCGAGGTCCCTG 0.537 329 131 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247769576 247769576 + Nonsense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:247769576C>A uc010pyz.1 + 1 689 c.689C>A c.(688-690)TCA>TAA p.S230* NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGGATCAAATCAGTAGAGGCA 0.453 165 74 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525719 248525719 + Silent SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr1:248525719G>T uc001ieh.1 + 1 837 c.837G>T c.(835-837)GTG>GTT p.V279V NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 279 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCTGACTGTGGTCATCCTCT 0.532 69 416 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26741909 26741909 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:26741909G>A uc002rhk.2 - 4 423 c.296C>T c.(295-297)ACG>ATG p.T99M OTOF_uc010ylb.1_5'Flank NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 99 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCAATCAGCGTGTCAGTCAC 0.577 6 43 --- --- --- --- PASS RASGRP3 25780 broad.mit.edu 37 2 33783884 33783884 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:33783884A>T uc002rox.2 + 18 2478 c.1851A>T c.(1849-1851)GAA>GAT p.E617D RASGRP3_uc010ync.1_Missense_Mutation_p.E617D|RASGRP3_uc002roy.2_Missense_Mutation_p.E616D NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 617 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) CCCAGACTGAACCTGTCTGGT 0.552 15 152 --- --- --- --- PASS PREPL 9581 broad.mit.edu 37 2 44569631 44569631 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:44569631C>T uc002ruf.2 - 5 712 c.677G>A c.(676-678)CGC>CAC p.R226H PREPL_uc002rug.2_Missense_Mutation_p.R226H|PREPL_uc002ruh.2_Missense_Mutation_p.R226H|PREPL_uc010fax.2_Missense_Mutation_p.R226H|PREPL_uc002rui.3_Missense_Mutation_p.R137H|PREPL_uc002ruj.1_Missense_Mutation_p.R137H|PREPL_uc002ruk.1_Missense_Mutation_p.R226H NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 226 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GTCATGACAGCGAAGGTTCCT 0.348 153 177 --- --- --- --- PASS PSME4 23198 broad.mit.edu 37 2 54146300 54146300 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:54146300G>A uc002rxp.2 - 20 2560 c.2504C>T c.(2503-2505)CCA>CTA p.P835L PSME4_uc010yop.1_Missense_Mutation_p.P721L|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.P210L|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 835 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GTTAGTAACTGGCTCTCCTTT 0.323 61 21 --- --- --- --- PASS SPTBN1 6711 broad.mit.edu 37 2 54859735 54859735 + Silent SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:54859735C>A uc002rxu.2 + 17 3846 c.3597C>A c.(3595-3597)ACC>ACA p.T1199T SPTBN1_uc002rxx.2_Silent_p.T1186T NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1199 Spectrin 9. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AAATGCCTACCACCTTGGAAG 0.433 179 91 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746338 77746338 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:77746338C>T uc002snr.2 - 3 1072 c.657G>A c.(655-657)AAG>AAA p.K219K LRRTM4_uc002snq.2_Silent_p.K219K|LRRTM4_uc002sns.2_Silent_p.K219K|LRRTM4_uc002snt.2_Silent_p.K220K NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 219 LRR 7.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CAAAGTTGATCTTGGAAAACT 0.453 60 51 --- --- --- --- PASS EIF2AK3 9451 broad.mit.edu 37 2 88890344 88890344 + Missense_Mutation SNP C T T rs121908570 TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:88890344C>T uc002stc.3 - 5 1196 c.994G>A c.(994-996)GAG>AAG p.E332K NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 332 Lumenal (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ACCTGGTACTCCCATTCCAGA 0.433 11 441 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98914457 98914457 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:98914457C>T uc002syo.2 + 24 3509 c.3245C>T c.(3244-3246)ACG>ATG p.T1082M VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.T739M|VWA3B_uc002syp.1_Missense_Mutation_p.T474M|VWA3B_uc002syq.1_Missense_Mutation_p.T358M|VWA3B_uc002syr.1_Missense_Mutation_p.T399M|VWA3B_uc002sys.2_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1082 ovary(3)|large_intestine(2)|skin(1) 6 TCCTTCATCACGCCTGTGGGG 0.577 13 132 --- --- --- --- PASS RNF149 284996 broad.mit.edu 37 2 101893736 101893736 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:101893736G>A uc002taz.1 - 7 1269 c.1167C>T c.(1165-1167)GGC>GGT p.G389G RNF149_uc002tax.1_Intron NM_173647 NP_775918 Q8NC42 RN149_HUMAN ring finger protein 149 precursor 389 integral to membrane ligase activity|zinc ion binding ovary(1)|breast(1) 2 AGTCACTCCTGCCGGCTTCTG 0.468 16 42 --- --- --- --- PASS WDR33 55339 broad.mit.edu 37 2 128471314 128471314 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:128471314C>A uc002tpg.1 - 18 3334 c.3151G>T c.(3151-3153)GGG>TGG p.G1051W NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 1051 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AACGGAGGCCCAGGGCCCCCT 0.657 114 100 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133539998 133539998 + Silent SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:133539998C>A uc002ttp.2 - 14 4760 c.4386G>T c.(4384-4386)GTG>GTT p.V1462V NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1462 protein binding 0 CTTCTGAACTCACAGCATCAG 0.498 19 51 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164467354 164467354 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:164467354C>A uc002uck.1 - 3 1299 c.988G>T c.(988-990)GAC>TAC p.D330Y NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 330 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 TAACTGGAGTCCATATCTCCT 0.468 105 232 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170029717 170029717 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:170029717A>G uc002ues.2 - 57 11245 c.11032T>C c.(11032-11034)TGT>CGT p.C3678R NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3678 LDL-receptor class A 30.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAGTTGTCACAGAGATGGGCA 0.473 34 83 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170059405 170059405 + Silent SNP C T T rs144284604 TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:170059405C>T uc002ues.2 - 43 8283 c.8070G>A c.(8068-8070)AAG>AAA p.K2690K NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2690 EGF-like 10.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CAATGCAGTGCTTCCTGTTGT 0.493 57 163 --- --- --- --- PASS UBR3 130507 broad.mit.edu 37 2 170936431 170936431 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:170936431C>T uc010zdi.1 + 37 5307 c.5307C>T c.(5305-5307)TGC>TGT p.C1769C UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.C590C|UBR3_uc002uft.3_Silent_p.C626C|UBR3_uc010zdj.1_Silent_p.C460C|UBR3_uc002ufu.3_Silent_p.C275C NM_172070 NP_742067 Q6ZT12 UBR3_HUMAN E3 ubiquitin-protein ligase UBR3 1769 Cys-rich. sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 GTAGTGTCTGCACCAAGGTTC 0.403 143 144 --- --- --- --- PASS KIAA1715 80856 broad.mit.edu 37 2 176794704 176794704 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:176794704C>T uc002ukc.1 - 13 1471 c.1278G>A c.(1276-1278)ACG>ACA p.T426T KIAA1715_uc010zer.1_Silent_p.T457T|KIAA1715_uc010fqw.1_Silent_p.T492T|KIAA1715_uc010zes.1_Silent_p.T428T|KIAA1715_uc002ukd.1_Silent_p.T303T|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 426 Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) ACTACTCTGCCGTCAAAGATT 0.428 37 153 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179594173 179594173 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:179594173C>T uc010zfg.1 - 61 15202 c.14978G>A c.(14977-14979)AGG>AAG p.R4993K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R1654K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5920 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCGAATTTCCCTGTTATTCTT 0.458 66 222 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179614216 179614216 + Nonsense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:179614216G>C uc002unb.2 - 46 13135 c.12911C>G c.(12910-12912)TCA>TGA p.S4304* TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCCCTTACTGAATATTCTTT 0.408 86 99 --- --- --- --- PASS NEUROD1 4760 broad.mit.edu 37 2 182543416 182543416 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:182543416C>G uc002uof.2 - 2 408 c.172G>C c.(172-174)GAG>CAG p.E58Q CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 58 Glu-rich (acidic). amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) tcctcctcctcTCCCCCGTTC 0.398 15 14 --- --- --- --- PASS FAM171B 165215 broad.mit.edu 37 2 187625902 187625902 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:187625902A>G uc002ups.2 + 7 1187 c.1075A>G c.(1075-1077)ATA>GTA p.I359V FAM171B_uc002upr.1_Missense_Mutation_p.I359V|FAM171B_uc002upt.2_5'Flank NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 359 Helical; (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 TCTTACAGCCATATTAGGAGG 0.328 37 114 --- --- --- --- PASS GLS 2744 broad.mit.edu 37 2 191795219 191795219 + Missense_Mutation SNP T A A rs3207595 TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:191795219T>A uc002usf.2 + 13 1746 c.1482T>A c.(1480-1482)AAT>AAA p.N494K GLS_uc002use.2_Missense_Mutation_p.N494K|GLS_uc002usg.1_Missense_Mutation_p.N155K|GLS_uc002ush.2_Missense_Mutation_p.N155K|GLS_uc010zgi.1_Missense_Mutation_p.N65K|GLS_uc010zgj.1_5'UTR NM_014905 NP_055720 O94925 GLSK_HUMAN glutaminase precursor 494 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTGTCCCCAATGTTATGGGTA 0.373 22 157 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207173840 207173840 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:207173840C>A uc002vbp.2 + 5 4838 c.4588C>A c.(4588-4590)CTG>ATG p.L1530M NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1530 nucleic acid binding|zinc ion binding ovary(3) 3 ACTTGTGGATCTGGTGCCCGG 0.398 8 65 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207176077 207176077 + Silent SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:207176077A>T uc002vbp.2 + 5 7075 c.6825A>T c.(6823-6825)CCA>CCT p.P2275P NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2275 nucleic acid binding|zinc ion binding ovary(3) 3 CTTCAGTTCCACCAGCTGGTG 0.493 6 21 --- --- --- --- PASS CAB39 51719 broad.mit.edu 37 2 231658041 231658041 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:231658041G>T uc002vqx.2 + 4 825 c.393G>T c.(391-393)TTG>TTT p.L131F CAB39_uc010fxr.2_Missense_Mutation_p.L131F|CAB39_uc010fxq.2_Missense_Mutation_p.L131F NM_016289 NP_057373 Q9Y376 CAB39_HUMAN calcium binding protein 39 131 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol kinase binding central_nervous_system(1) 1 all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187) all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226) TCATGTTATTGAAAGGGTATG 0.343 26 81 --- --- --- --- PASS INPP5D 3635 broad.mit.edu 37 2 234112939 234112939 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr2:234112939C>A uc010zmo.1 + 25 3296 c.3143C>A c.(3142-3144)CCG>CAG p.P1048Q INPP5D_uc010zmp.1_Missense_Mutation_p.P1047Q NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 1048 SH3-binding 3.|Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AAGGAACCCCCGCCCTGCCCG 0.657 47 40 --- --- --- --- PASS ATG7 10533 broad.mit.edu 37 3 11350508 11350508 + Silent SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:11350508C>G uc003bwc.2 + 5 501 c.384C>G c.(382-384)CTC>CTG p.L128L ATG7_uc003bwd.2_Silent_p.L128L|ATG7_uc011aum.1_Silent_p.L128L NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 128 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 CTGTACTCCTCAACAAGTTCC 0.468 232 172 --- --- --- --- PASS ZCWPW2 152098 broad.mit.edu 37 3 28566160 28566160 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:28566160C>A uc003ceh.2 + 10 1220 c.1052C>A c.(1051-1053)GCT>GAT p.A351D ZCWPW2_uc003cei.2_Missense_Mutation_p.A351D|ZCWPW2_uc010hfo.2_Missense_Mutation_p.A156D NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 351 zinc ion binding ovary(2) 2 GAAATAGATGCTTTGATGTCT 0.234 37 17 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48622528 48622528 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:48622528G>T uc003ctz.2 - 32 3917 c.3916C>A c.(3916-3918)CGT>AGT p.R1306S NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1306 Triple-helical region.|Interrupted collagenous region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGCCTGGACGCCCATCTGCT 0.677 6 33 --- --- --- --- PASS CNTN3 5067 broad.mit.edu 37 3 74383978 74383978 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:74383978C>T uc003dpm.1 - 12 1656 c.1576G>A c.(1576-1578)GAC>AAC p.D526N NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 526 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AACAGCGGGTCATGTTGTACC 0.418 52 74 --- --- --- --- PASS ROBO2 6092 broad.mit.edu 37 3 77571935 77571935 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:77571935C>T uc003dpy.3 + 6 1459 c.816C>T c.(814-816)ATC>ATT p.I272I ROBO2_uc003dpz.2_Silent_p.I272I|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.I272I NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 272 Ig-like C2-type 3.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GGTATGACATCAAAGACGATT 0.328 24 70 --- --- --- --- PASS ROBO2 6092 broad.mit.edu 37 3 77637988 77637988 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:77637988G>A uc003dpy.3 + 17 3230 c.2587G>A c.(2587-2589)GCT>ACT p.A863T ROBO2_uc003dpz.2_Missense_Mutation_p.A867T|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.A867T|ROBO2_uc003dqa.2_5'UTR NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 863 Helical; (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGCCTTTATAGCTGGTATTGG 0.418 39 47 --- --- --- --- PASS VGLL3 389136 broad.mit.edu 37 3 87018024 87018024 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:87018024G>C uc003dqn.2 - 3 1017 c.653C>G c.(652-654)TCC>TGC p.S218C NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) ATGGCTGTAGGATGGGCTCAC 0.483 3 61 --- --- --- --- PASS ST3GAL6 10402 broad.mit.edu 37 3 98512603 98512603 + Nonstop_Mutation SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:98512603T>A uc003dsz.2 + 10 1230 c.994T>A c.(994-996)TGA>AGA p.*332R ST3GAL6_uc003dsy.2_Nonstop_Mutation_p.*246R|ST3GAL6_uc003dta.2_Nonstop_Mutation_p.*214R|ST3GAL6_uc003dtb.2_Nonstop_Mutation_p.*188R|ST3GAL6_uc003dtc.2_Nonstop_Mutation_p.*332R|ST3GAL6_uc010hpd.2_Nonstop_Mutation_p.*385R NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 332 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 GACTCAAGATTGACTCTACAG 0.323 239 132 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108776294 108776294 + Silent SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:108776294T>A uc003dxl.2 - 13 1158 c.1071A>T c.(1069-1071)GGA>GGT p.G357G MORC1_uc011bhn.1_Silent_p.G357G NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 357 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CTACGTTCACTCCATAGAACA 0.338 42 382 --- --- --- --- PASS BOC 91653 broad.mit.edu 37 3 112969595 112969595 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:112969595C>A uc003dzx.2 + 4 912 c.291C>A c.(289-291)AAC>AAA p.N97K BOC_uc010hqi.2_Missense_Mutation_p.N97K|BOC_uc003dzy.2_Missense_Mutation_p.N97K|BOC_uc003dzz.2_Missense_Mutation_p.N97K|BOC_uc003dzw.1_Missense_Mutation_p.N97K|BOC_uc003eaa.1_Missense_Mutation_p.N97K NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 97 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) CTGCCCTTAACAACCACACTG 0.597 18 173 --- --- --- --- PASS WDR52 55779 broad.mit.edu 37 3 113145025 113145025 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:113145025G>A uc003eae.1 - 4 399 c.353C>T c.(352-354)TCG>TTG p.S118L NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 118 central_nervous_system(1) 1 AAAAGGCATCGAAGCAAGCTC 0.413 79 821 --- --- --- --- PASS KIAA1407 57577 broad.mit.edu 37 3 113755617 113755617 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:113755617C>T uc003eax.2 - 5 579 c.432G>A c.(430-432)TTG>TTA p.L144L KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Silent_p.L122L|KIAA1407_uc011bip.1_Silent_p.L131L NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 144 ovary(2) 2 CTTCTTCCTCCAAATAGCCAC 0.308 37 244 --- --- --- --- PASS ZBTB20 26137 broad.mit.edu 37 3 114070037 114070037 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:114070037C>T uc003ebi.2 - 4 1068 c.888G>A c.(886-888)CAG>CAA p.Q296Q ZBTB20_uc003ebj.2_Silent_p.Q223Q|ZBTB20_uc010hqp.2_Silent_p.Q223Q|ZBTB20_uc003ebk.2_Silent_p.Q223Q|ZBTB20_uc003ebl.2_Silent_p.Q223Q|ZBTB20_uc003ebm.2_Silent_p.Q223Q|ZBTB20_uc003ebn.2_Silent_p.Q223Q|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GCTCCATCTGCTGCGAGCGCT 0.667 49 336 --- --- --- --- PASS KTELC1 56983 broad.mit.edu 37 3 119211230 119211230 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:119211230C>T uc003ecm.2 + 11 1208 c.1124C>T c.(1123-1125)ACG>ATG p.T375M KTELC1_uc011bja.1_Missense_Mutation_p.T216M NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor 375 endoplasmic reticulum lumen UDP-glucosyltransferase activity 0 GBM - Glioblastoma multiforme(114;0.233) TATAATGTAACGAGAAGGAAA 0.383 84 310 --- --- --- --- PASS HGD 3081 broad.mit.edu 37 3 120394658 120394658 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:120394658C>T uc003edw.2 - 2 438 c.68G>A c.(67-69)GGT>GAT p.G23D NM_000187 NP_000178 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 23 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding 0 GBM - Glioblastoma multiforme(114;0.158) TGGCAGGGAACCTGGGCAGCG 0.468 27 382 --- --- --- --- PASS PARP15 165631 broad.mit.edu 37 3 122354820 122354820 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:122354820C>T uc003efm.2 + 12 1976 c.1910C>T c.(1909-1911)CCC>CTC p.P637L PARP15_uc003efn.2_Missense_Mutation_p.P442L|PARP15_uc003efo.1_Missense_Mutation_p.P384L|PARP15_uc003efp.1_Missense_Mutation_p.P403L|PARP15_uc011bjt.1_Missense_Mutation_p.P334L NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 615 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) ACCCCTCCACCCAAGAATCCT 0.458 32 258 --- --- --- --- PASS SEMA5B 54437 broad.mit.edu 37 3 122645393 122645393 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:122645393C>T uc003efz.1 - 9 1286 c.982G>A c.(982-984)GGC>AGC p.G328S SEMA5B_uc011bju.1_Missense_Mutation_p.G270S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.G328S|SEMA5B_uc010hro.1_Missense_Mutation_p.G270S|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 328 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) AGGAATCGGCCCCCCACGTCA 0.612 18 97 --- --- --- --- PASS IFT122 55764 broad.mit.edu 37 3 129183505 129183505 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:129183505G>A uc003emm.2 + 7 650 c.444G>A c.(442-444)GCG>GCA p.A148A IFT122_uc003eml.2_Silent_p.A199A|IFT122_uc003emn.2_Silent_p.A148A|IFT122_uc003emo.2_Silent_p.A96A|IFT122_uc003emp.2_5'UTR|IFT122_uc010htc.2_Silent_p.A199A|IFT122_uc011bky.1_5'UTR|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_5'UTR|IFT122_uc011bla.1_5'UTR|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_RNA NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 148 WD 4. camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 AGTACCTGGCGCTGGGGATGT 0.517 60 536 --- --- --- --- PASS ACAD11 84129 broad.mit.edu 37 3 132294745 132294745 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:132294745G>A uc003eov.3 - 17 2252 c.1872C>T c.(1870-1872)TCC>TCT p.S624S NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 624 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 GGCGGCCTTGGGAAATTTCAA 0.478 106 252 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147127973 147127973 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:147127973C>T uc003ewe.2 + 1 793 c.74C>T c.(73-75)GCG>GTG p.A25V NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 25 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CACCACTCCGCGGGCGACGTG 0.716 35 96 --- --- --- --- PASS AADACL2 344752 broad.mit.edu 37 3 151458463 151458463 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:151458463G>A uc003ezc.2 + 2 288 c.168G>A c.(166-168)ATG>ATA p.M56I AADACL2_uc010hvn.2_Intron NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 56 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TGCGTATTATGAGATATGAAG 0.274 84 209 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155199554 155199554 + Missense_Mutation SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:155199554T>A uc011bok.1 - 23 4562 c.4285A>T c.(4285-4287)ACT>TCT p.T1429S PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.T1391S NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1429 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATACTTTGAGTTTTGACATCT 0.418 44 487 --- --- --- --- PASS SLC7A14 57709 broad.mit.edu 37 3 170198775 170198775 + Silent SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:170198775T>C uc003fgz.2 - 7 1612 c.1296A>G c.(1294-1296)CAA>CAG p.Q432Q CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 432 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CACTCTCAGGTTGGTATCGAA 0.498 45 458 --- --- --- --- PASS GHSR 2693 broad.mit.edu 37 3 172165997 172165997 + Silent SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:172165997C>A uc003fib.1 - 1 207 c.207G>T c.(205-207)TCG>TCT p.S69S GHSR_uc011bpv.1_Silent_p.S69S NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 69 Cytoplasmic (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CGCGGAAGCGCGACACCACCA 0.657 163 71 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179460014 179460014 + Silent SNP C T T rs140308745 TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:179460014C>T uc003fkh.2 + 12 1491 c.1410C>T c.(1408-1410)AGC>AGT p.S470S USP13_uc003fkf.2_Silent_p.S470S NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 470 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) AAAACCCAAGCGATGTTTTTC 0.453 67 192 --- --- --- --- PASS EHHADH 1962 broad.mit.edu 37 3 184910689 184910689 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:184910689G>A uc003fpf.2 - 7 1524 c.1497C>T c.(1495-1497)GGC>GGT p.G499G EHHADH_uc011brs.1_Silent_p.G403G NM_001966 NP_001957 Q08426 ECHP_HUMAN enoyl-Coenzyme A, hydratase/3-hydroxyacyl 499 3-hydroxyacyl-CoA dehydrogenase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity ovary(3) 3 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) CTGGTTTGCTGCCTTCTTCTA 0.418 73 531 --- --- --- --- PASS TPRG1 285386 broad.mit.edu 37 3 188956628 188956628 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:188956628C>T uc003frv.1 + 9 1636 c.409C>T c.(409-411)CGG>TGG p.R137W TPRG1_uc003frw.1_Missense_Mutation_p.R137W NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 137 0 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) GCAGCTGCAGCGGATTCCTCT 0.478 16 581 --- --- --- --- PASS FYTTD1 84248 broad.mit.edu 37 3 197505211 197505211 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:197505211C>T uc003fyi.2 + 8 953 c.734C>T c.(733-735)ACT>ATT p.T245I FYTTD1_uc011bui.1_Missense_Mutation_p.T219I|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_Missense_Mutation_p.T178I NM_032288 NP_115664 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 isoform 1 245 mRNA export from nucleus nuclear speck mRNA binding|protein binding 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) TCTAATAGAACTCAGAAACCA 0.343 22 155 --- --- --- --- PASS MAEA 10296 broad.mit.edu 37 4 1316281 1316281 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr4:1316281G>A uc003gda.2 + 4 599 c.569G>A c.(568-570)CGG>CAG p.R190Q MAEA_uc010ibs.1_Intron|MAEA_uc003gdb.2_Intron|MAEA_uc011bvb.1_Missense_Mutation_p.R122Q|MAEA_uc003gdc.2_Intron|MAEA_uc003gdd.2_Intron|MAEA_uc011bvc.1_Missense_Mutation_p.R189Q|MAEA_uc011bvd.1_Missense_Mutation_p.R142Q|MAEA_uc010ibt.2_Intron NM_001017405 NP_001017405 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher isoform 1 190 CTLH. cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0201) TCCCGGCTCCGGAAGATGAAG 0.657 38 31 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56823455 56823455 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr4:56823455C>G uc003hbi.2 + 5 773 c.539C>G c.(538-540)TCT>TGT p.S180C CEP135_uc003hbh.1_Missense_Mutation_p.S180C|CEP135_uc010igz.1_Missense_Mutation_p.S10C NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 180 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) GTTCCTCCCTCTGAAGTCAGT 0.418 55 177 --- --- --- --- PASS WDFY3 23001 broad.mit.edu 37 4 85598453 85598453 + Silent SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr4:85598453C>G uc003hpd.2 - 67 10764 c.10356G>C c.(10354-10356)GTG>GTC p.V3452V WDFY3_uc003hpc.2_Silent_p.V207V NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 3452 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CTTCATCCTTCACCCAGTGAT 0.557 27 55 --- --- --- --- PASS PDHA2 5161 broad.mit.edu 37 4 96762125 96762125 + Missense_Mutation SNP A C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr4:96762125A>C uc003htr.3 + 1 887 c.824A>C c.(823-825)AAG>ACG p.K275T NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 275 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) AGATCTGGAAAGGGGCCCATA 0.453 10 110 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115997955 115997955 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr4:115997955C>A uc003ibu.2 - 2 917 c.238G>T c.(238-240)GTC>TTC p.V80F NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 80 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAGAGAAGGACAGTAGGGTCC 0.443 47 108 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151749383 151749383 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr4:151749383G>A uc010ipj.2 - 30 5594 c.5120C>T c.(5119-5121)GCC>GTC p.A1707V LRBA_uc003ilt.3_Missense_Mutation_p.A366V|LRBA_uc003ilu.3_Missense_Mutation_p.A1707V NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1707 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) ATCACCAAGGGCTCCAAGGCA 0.433 73 70 --- --- --- --- PASS GUCY1A3 2982 broad.mit.edu 37 4 156631983 156631983 + Silent SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr4:156631983T>C uc003iov.2 + 7 1202 c.666T>C c.(664-666)GCT>GCC p.A222A GUCY1A3_uc003iou.2_Silent_p.A222A|GUCY1A3_uc010iqc.2_Silent_p.A222A|GUCY1A3_uc003iow.2_Silent_p.A222A|GUCY1A3_uc010iqd.2_Silent_p.A221A|GUCY1A3_uc003iox.2_Silent_p.A222A|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Silent_p.A222A|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.A222A NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 222 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TAAAGGCAGCTGCTCACGTAT 0.443 42 66 --- --- --- --- PASS TRIM60 166655 broad.mit.edu 37 4 165961430 165961430 + Missense_Mutation SNP C T T rs148893149 byFrequency TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr4:165961430C>T uc003iqy.1 + 3 376 c.206C>T c.(205-207)CCC>CTC p.P69L TRIM60_uc010iqx.1_Missense_Mutation_p.P69L NM_152620 NP_689833 Q495X7 TRI60_HUMAN ring finger protein 129 69 intracellular zinc ion binding skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) AGGAGGAACCCCCAGCTCCGT 0.468 50 52 --- --- --- --- PASS FLJ33360 401172 broad.mit.edu 37 5 6312634 6312634 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:6312634A>G uc003jdn.1 - 2 339 c.242T>C c.(241-243)CTG>CCG p.L81P NM_001001702 NP_001001702 SubName: Full=FLJ33360 protein; SubName: Full=cDNA FLJ33360 fis, clone BRACE2005253; 0 GAGGAACCCCAGGAGAGGGGA 0.498 11 19 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13864617 13864617 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:13864617G>T uc003jfd.2 - 28 4527 c.4485C>A c.(4483-4485)CAC>CAA p.H1495Q NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1495 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCCTTTCCCAGTGCCGCTCCA 0.473 Kartagener_syndrome 68 111 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24491937 24491937 + Splice_Site SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:24491937C>A uc003jgr.1 - 11 1957 c.1625_splice c.e11-1 p.D542_splice CDH10_uc011cnu.1_Splice_Site NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GCAGTATTATCTAAAACAAAT 0.274 HNSCC(23;0.051) 14 41 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24498596 24498596 + Missense_Mutation SNP A C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:24498596A>C uc003jgr.1 - 9 1758 c.1426T>G c.(1426-1428)TTT>GTT p.F476V CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 476 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ATTCTCACAAAAACAGCCACG 0.393 HNSCC(23;0.051) 81 149 --- --- --- --- PASS PTGER4 5734 broad.mit.edu 37 5 40692343 40692343 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:40692343C>G uc003jlz.2 + 3 1922 c.1330C>G c.(1330-1332)CAG>GAG p.Q444E NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 444 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 AGACTCTTCACAGGGTCAGGA 0.587 45 68 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41004483 41004483 + Nonsense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:41004483C>A uc003jmj.3 - 37 4649 c.4159G>T c.(4159-4161)GAA>TAA p.E1387* HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.E942* NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1387 HEAT 15. binding ovary(6)|central_nervous_system(2) 8 AGCACTATTTCCTTGAAGTAG 0.458 133 235 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45396630 45396630 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:45396630C>T uc003jok.2 - 4 1219 c.1194G>A c.(1192-1194)CAG>CAA p.Q398Q NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 398 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AATCCAGAGACTGGATTAAAG 0.473 46 65 --- --- --- --- PASS MAN2A1 4124 broad.mit.edu 37 5 109190950 109190950 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:109190950T>C uc003kou.1 + 20 4049 c.3086T>C c.(3085-3087)CTT>CCT p.L1029P NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 1029 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TCACCTACCCTTGAGCTGCAA 0.398 3 102 --- --- --- --- PASS PRR16 51334 broad.mit.edu 37 5 120021815 120021815 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:120021815A>T uc003ksq.2 + 2 489 c.326A>T c.(325-327)CAC>CTC p.H109L PRR16_uc003ksp.2_Missense_Mutation_p.H86L|PRR16_uc003ksr.2_Missense_Mutation_p.H39L NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 109 Pro-rich. pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CCCCCAGCACACCCGTCTGCT 0.527 135 56 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140209305 140209305 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:140209305G>A uc003lho.2 + 1 1656 c.1629G>A c.(1627-1629)CCG>CCA p.P543P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.P543P NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 543 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCGTGCCGCCTCTGGGCA 0.692 16 144 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140574310 140574310 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:140574310G>T uc003lix.2 + 1 2359 c.2185G>T c.(2185-2187)GTG>TTG p.V729L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 729 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGCTGCTCGGTGCCCGAGGG 0.672 88 48 --- --- --- --- PASS PCDHGA1 56114 broad.mit.edu 37 5 140711925 140711925 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:140711925C>T uc003lji.1 + 1 1674 c.1674C>T c.(1672-1674)AAC>AAT p.N558N PCDHGA1_uc011dan.1_Silent_p.N558N NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 558 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACGACAACGCGCCCGAGA 0.647 10 254 --- --- --- --- PASS PCDH1 5097 broad.mit.edu 37 5 141244788 141244788 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:141244788G>A uc003llq.2 - 3 1225 c.1108C>T c.(1108-1110)CGT>TGT p.R370C PCDH1_uc003llp.2_Missense_Mutation_p.R370C|PCDH1_uc011dbf.1_Missense_Mutation_p.R348C NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 370 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding p.R370C(1) ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) ACCTGGGCACGGGCACTCTTG 0.572 13 134 --- --- --- --- PASS CYFIP2 26999 broad.mit.edu 37 5 156757807 156757807 + Silent SNP G A A rs141399379 by1000genomes TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr5:156757807G>A uc003lwq.2 + 22 2352 c.2214G>A c.(2212-2214)CCG>CCA p.P738P CYFIP2_uc011ddn.1_Silent_p.P712P|CYFIP2_uc011ddo.1_Silent_p.P542P|CYFIP2_uc003lwr.2_Silent_p.P738P|CYFIP2_uc003lws.2_Silent_p.P738P|CYFIP2_uc003lwt.2_Silent_p.P641P|CYFIP2_uc011ddp.1_Silent_p.P472P NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 763 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCATCATTCCGTATCCACCGT 0.483 28 82 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12120635 12120635 + Missense_Mutation SNP A G G rs140801617 by1000genomes TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:12120635A>G uc003nac.2 + 4 786 c.607A>G c.(607-609)ATG>GTG p.M203V HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 203 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ACTGAAAGCAATGGAGCCAGA 0.448 122 94 --- --- --- --- PASS HIST1H4I 8294 broad.mit.edu 37 6 27107122 27107122 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:27107122G>A uc003niy.1 + 1 35 c.35G>A c.(34-36)GGG>GAG p.G12E HIST1H2BK_uc003nix.1_Intron NM_003495 NP_003486 P62805 H4_HUMAN histone cluster 1, H4i 12 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 AAGGGCCTGGGGAAAGGGGGT 0.592 T BCL6 NHL 20 115 --- --- --- --- PASS OR2J3 442186 broad.mit.edu 37 6 29079672 29079672 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:29079672A>T uc011dll.1 + 1 5 c.5A>T c.(4-6)AAT>ATT p.N2I NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAGGAAATGAATGATGATGGA 0.264 291 229 --- --- --- --- PASS ZFP57 346171 broad.mit.edu 37 6 29640930 29640930 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:29640930C>T uc011dlw.1 - 4 1109 c.958G>A c.(958-960)GAT>AAT p.D320N ZFP57_uc003nnl.3_Missense_Mutation_p.D300N NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 236 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 TGGTTCACATCCAAAAGCCCC 0.537 236 173 --- --- --- --- PASS CFB 629 broad.mit.edu 37 6 31914821 31914821 + Silent SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:31914821G>T uc003nyj.3 + 3 614 c.336G>T c.(334-336)GGG>GGT p.G112G CFB_uc011dor.1_Silent_p.G614G|CFB_uc011dos.1_3'UTR|CFB_uc003nyi.2_Silent_p.G112G NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein 112 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 TCGAGAACGGGGAATACTGGC 0.537 37 185 --- --- --- --- PASS GLP1R 2740 broad.mit.edu 37 6 39046732 39046732 + Splice_Site SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:39046732G>A uc003ooj.3 + 9 945 c.885_splice c.e9-1 p.G295_splice GLP1R_uc003ooh.2_Splice_Site|GLP1R_uc003ooi.2_Splice_Site NM_002062 NP_002053 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor precursor activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled lung(3)|breast(1)|pancreas(1) 5 Exenatide(DB01276)|Glucagon recombinant(DB00040) TCCCTCCCCAGCTGCTGGACC 0.582 80 348 --- --- --- --- PASS GCM1 8521 broad.mit.edu 37 6 52993720 52993720 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:52993720G>T uc003pbp.2 - 6 804 c.595C>A c.(595-597)CAG>AAG p.Q199K NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 199 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) AAACTCCCCTGACTTTGTGTT 0.433 175 132 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57472417 57472417 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:57472417G>T uc003pdx.2 + 13 1293 c.1206G>T c.(1204-1206)AAG>AAT p.K402N NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 402 DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) AGTCATACAAGATCTCTCCTG 0.433 9 112 --- --- --- --- PASS IBTK 25998 broad.mit.edu 37 6 82924287 82924287 + Nonsense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:82924287C>A uc003pjl.1 - 12 2388 c.1861G>T c.(1861-1863)GAG>TAG p.E621* IBTK_uc011dyv.1_Nonsense_Mutation_p.E621*|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Nonsense_Mutation_p.E315*|IBTK_uc003pjm.2_Nonsense_Mutation_p.E621* NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 621 BTB 1. negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TGAACCTTCTCTACCACAAAG 0.323 19 140 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85446865 85446865 + Silent SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:85446865A>G uc003pkl.1 - 8 1362 c.1362T>C c.(1360-1362)ACT>ACC p.T454T TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 454 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CATAGGAGGGAGTCCTGGGCG 0.602 42 287 --- --- --- --- PASS SNX14 57231 broad.mit.edu 37 6 86253440 86253440 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:86253440T>C uc003pkr.2 - 13 1340 c.1147A>G c.(1147-1149)AAT>GAT p.N383D SNX14_uc003pkp.2_Missense_Mutation_p.N246D|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.N331D|SNX14_uc003pks.2_Missense_Mutation_p.N339D|SNX14_uc003pkt.2_Missense_Mutation_p.N383D NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 383 RGS. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) ATTTCATCATTTGATAATTCT 0.254 9 59 --- --- --- --- PASS ZNF292 23036 broad.mit.edu 37 6 87965905 87965905 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:87965905A>T uc003plm.3 + 8 2599 c.2558A>T c.(2557-2559)CAG>CTG p.Q853L NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 853 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GATTCCATTCAGCCTTCTGAA 0.413 19 154 --- --- --- --- PASS CDC40 51362 broad.mit.edu 37 6 110541048 110541048 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:110541048A>T uc003pua.2 + 12 1340 c.1316A>T c.(1315-1317)GAT>GTT p.D439V NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 439 WD 4. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) ACATCTGATGATAAAAGCCTA 0.378 45 91 --- --- --- --- PASS KIAA1244 57221 broad.mit.edu 37 6 138635047 138635047 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:138635047C>T uc003qhu.2 + 26 4316 c.4316C>T c.(4315-4317)TCA>TTA p.S1439L NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1439 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GGAATTGAATCAGTCCTGTCT 0.428 18 29 --- --- --- --- PASS TFB1M 51106 broad.mit.edu 37 6 155635434 155635434 + Silent SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:155635434C>G uc003qqj.3 - 1 193 c.129G>C c.(127-129)CTG>CTC p.L43L TFB1M_uc003qqk.2_RNA NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) ATCCACCTGTCAGCCTCAAGT 0.612 9 30 --- --- --- --- PASS QKI 9444 broad.mit.edu 37 6 163956076 163956076 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:163956076C>T uc003qui.2 + 4 1016 c.465C>T c.(463-465)ATC>ATT p.I155I QKI_uc003que.2_Silent_p.I155I|QKI_uc003quf.2_Silent_p.I155I|QKI_uc003qug.2_Silent_p.I155I|QKI_uc003quh.2_Silent_p.I155I|QKI_uc003quj.2_Silent_p.I155I NM_006775 NP_006766 Q96PU8 QKI_HUMAN quaking homolog, KH domain RNA binding isoform 155 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding large_intestine(1)|ovary(1) 2 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) ATGTACTAATCACTGTGGAAG 0.348 13 128 --- --- --- --- PASS C6orf70 55780 broad.mit.edu 37 6 170175438 170175438 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr6:170175438G>T uc003qxg.1 + 14 1423 c.1390G>T c.(1390-1392)GTC>TTC p.V464F C6orf70_uc011ehb.1_Missense_Mutation_p.V338F|C6orf70_uc003qxh.1_Missense_Mutation_p.V464F|C6orf70_uc010kky.1_Missense_Mutation_p.V338F|C6orf70_uc003qxi.1_Missense_Mutation_p.V112F NM_018341 NP_060811 Q5T6L9 CF070_HUMAN hypothetical protein LOC55780 464 integral to membrane ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) TCGGCAAGCCGTCAGGTGCGT 0.512 13 32 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11422150 11422150 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:11422150G>A uc003ssf.3 - 23 4757 c.4505C>T c.(4504-4506)ACA>ATA p.T1502I uc003ssb.2_Intron|THSD7A_uc003ssd.3_5'Flank NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1502 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AGGTTTACCTGTTACATTTAT 0.403 HNSCC(18;0.044) 12 49 --- --- --- --- PASS DPY19L1 23333 broad.mit.edu 37 7 34971211 34971211 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:34971211T>C uc003tem.3 - 22 2147 c.2002A>G c.(2002-2004)AAA>GAA p.K668E DPY19L1_uc003tel.1_RNA NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 668 integral to membrane 0 TCTAGGACTTTGTAAACACTG 0.408 23 137 --- --- --- --- PASS TXNDC3 51314 broad.mit.edu 37 7 37907413 37907413 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:37907413C>T uc003tfn.2 + 11 1103 c.731C>T c.(730-732)ACT>ATT p.T244I NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 244 NDK 1. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 GAACCACAGACTGACACCGAA 0.433 Kartagener_syndrome 24 84 --- --- --- --- PASS GTF2IRD1 9569 broad.mit.edu 37 7 73969796 73969796 + Silent SNP C T T rs145914970 byFrequency TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:73969796C>T uc003uaq.2 + 19 2433 c.2040C>T c.(2038-2040)GAC>GAT p.D680D GTF2IRD1_uc010lbq.2_Silent_p.D697D|GTF2IRD1_uc003uap.2_Silent_p.D665D|GTF2IRD1_uc003uar.1_Silent_p.D665D NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 680 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 CTCTGGTGGACGAGAGCCTGA 0.607 19 97 --- --- --- --- PASS CACNA2D1 781 broad.mit.edu 37 7 81695831 81695831 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:81695831C>A uc003uhr.1 - 8 924 c.668G>T c.(667-669)TGG>TTG p.W223L NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 223 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATTATCAACCCATGGTGAAGC 0.279 14 33 --- --- --- --- PASS SEMA3D 223117 broad.mit.edu 37 7 84649630 84649630 + Silent SNP T A A rs111882229 TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:84649630T>A uc003uic.2 - 12 1462 c.1422A>T c.(1420-1422)GGA>GGT p.G474G SEMA3D_uc010led.2_Silent_p.G474G|SEMA3D_uc003uib.2_Silent_p.G113G NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 474 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 TGAGGACAGTTCCAATGTCTG 0.403 75 56 --- --- --- --- PASS DYNC1I1 1780 broad.mit.edu 37 7 95657515 95657515 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:95657515G>A uc003uoc.3 + 11 1326 c.1049G>A c.(1048-1050)CGT>CAT p.R350H DYNC1I1_uc003uod.3_Missense_Mutation_p.R333H|DYNC1I1_uc003uob.2_Missense_Mutation_p.R313H|DYNC1I1_uc003uoe.3_Missense_Mutation_p.R330H|DYNC1I1_uc010lfl.2_Missense_Mutation_p.R339H NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 350 WD 2. vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TGCTTCGCCCGTTTCCATCCT 0.512 377 282 --- --- --- --- PASS ORC5L 5001 broad.mit.edu 37 7 103801611 103801611 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:103801611C>A uc003vcb.2 - 12 1169 c.1058G>T c.(1057-1059)GGG>GTG p.G353V ORC5L_uc011klp.1_Missense_Mutation_p.G221V NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 353 cell cycle checkpoint|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 cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 TGGTTTTGGCCCAAGGAGATG 0.363 136 122 --- --- --- --- PASS LHFPL3 375612 broad.mit.edu 37 7 103969662 103969662 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:103969662G>T uc003vce.2 + 1 559 c.435G>T c.(433-435)CAG>CAT p.Q145H LHFPL3_uc003vcf.2_Missense_Mutation_p.Q145H NM_199000 NP_945351 Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 131 Helical; (Potential). integral to membrane 0 CCTGGATGCAGCTCACCTCCG 0.642 35 131 --- --- --- --- PASS RINT1 60561 broad.mit.edu 37 7 105204390 105204390 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:105204390G>C uc003vda.1 + 12 2113 c.1882G>C c.(1882-1884)GAA>CAA p.E628Q RINT1_uc010ljj.1_Missense_Mutation_p.E203Q NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 628 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding ovary(3)|central_nervous_system(1) 4 GTATAAAAAAGAAAGGTATGT 0.353 83 57 --- --- --- --- PASS FAM71F2 346653 broad.mit.edu 37 7 128317840 128317840 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:128317840G>T uc003vnk.3 + 3 694 c.588G>T c.(586-588)AAG>AAT p.K196N FAM71F2_uc010llm.1_Missense_Mutation_p.K187N|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA NM_001012454 NP_001012457 Q6NXP2 F71F2_HUMAN hypothetical protein LOC346653 isoform a 196 0 TGGTGCCCAAGATGCCCACCA 0.453 12 45 --- --- --- --- PASS WDR91 29062 broad.mit.edu 37 7 134878009 134878009 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:134878009A>G uc003vsp.2 - 11 1695 c.1633T>C c.(1633-1635)TGG>CGG p.W545R WDR91_uc010lmq.2_Missense_Mutation_p.W134R|WDR91_uc010lmr.2_RNA NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 545 WD 3. breast(2)|ovary(1)|skin(1) 4 TTCGTGTCCCACAGCAGCAGC 0.607 30 80 --- --- --- --- PASS KLRG2 346689 broad.mit.edu 37 7 139164406 139164406 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:139164406G>A uc003vvb.2 - 3 1041 c.972C>T c.(970-972)TAC>TAT p.Y324Y KLRG2_uc010lnc.2_Intron NM_198508 NP_940910 A4D1S0 KLRG2_HUMAN killer cell lectin-like receptor subfamily G, 324 C-type lectin. integral to membrane sugar binding central_nervous_system(1) 1 Melanoma(164;0.233) GGGTAGCGTGGTAGGCTGAGC 0.527 159 151 --- --- --- --- PASS AMAC1L2 83650 broad.mit.edu 37 8 11189091 11189091 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr8:11189091G>T uc003wtp.1 + 1 597 c.476G>T c.(475-477)TGG>TTG p.W159L NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 159 DUF6 1. integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) GGCTACGAGTGGTGTGGACTG 0.597 297 103 --- --- --- --- PASS TUSC3 7991 broad.mit.edu 37 8 15508305 15508305 + Silent SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr8:15508305G>T uc003wwt.2 + 3 618 c.408G>T c.(406-408)GGG>GGT p.G136G TUSC3_uc003wwr.2_Silent_p.G136G|TUSC3_uc003wws.2_Silent_p.G136G|TUSC3_uc003wwu.2_Silent_p.G136G|TUSC3_uc003wwv.2_Silent_p.G136G|TUSC3_uc003www.2_Silent_p.G136G|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Silent_p.G136G NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 136 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) ATGATGAGGGGACAGACGTTT 0.358 12 490 --- --- --- --- PASS MSR1 4481 broad.mit.edu 37 8 16001066 16001066 + Splice_Site SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr8:16001066C>T uc003wwz.2 - 8 1231 c.1033_splice c.e8+1 p.T345_splice MSR1_uc010lsu.2_Splice_Site_p.T363_splice|MSR1_uc003wxa.2_Splice_Site_p.S345_splice|MSR1_uc003wxb.2_Splice_Site_p.R345_splice|MSR1_uc011kxz.1_Splice_Site_p.R119_splice NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TATATACTTACTTAATGTGTT 0.363 33 10 --- --- --- --- PASS SCARA5 286133 broad.mit.edu 37 8 27729452 27729452 + Nonstop_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr8:27729452C>A uc003xgj.2 - 9 1927 c.1487G>T c.(1486-1488)TGA>TTA p.*496L SCARA5_uc010luz.2_Nonstop_Mutation_p.*271L NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 496 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) TGCCCACTTTCAGTGTCTGTT 0.602 169 55 --- --- --- --- PASS PDP1 54704 broad.mit.edu 37 8 94935238 94935238 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr8:94935238A>T uc003yge.2 + 2 1220 c.951A>T c.(949-951)CAA>CAT p.Q317H PDP1_uc003ygf.2_Missense_Mutation_p.Q342H|PDP1_uc010max.2_Missense_Mutation_p.Q342H|PDP1_uc011lgm.1_Missense_Mutation_p.Q317H|PDP1_uc011lgn.1_Missense_Mutation_p.Q376H NM_018444 NP_060914 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic 317 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 ACAATGCTCAAAATGAAAGAG 0.498 136 80 --- --- --- --- PASS KCNV1 27012 broad.mit.edu 37 8 110984722 110984722 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr8:110984722C>A uc003ynr.3 - 2 1098 c.756G>T c.(754-756)TGG>TGT p.W252C KCNV1_uc010mcw.2_Missense_Mutation_p.W252C NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 252 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CCCCGGTGAACCAGCTAATGC 0.537 108 67 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113702181 113702181 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr8:113702181G>T uc003ynu.2 - 14 2230 c.2071C>A c.(2071-2073)CAG>AAG p.Q691K CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.Q651K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q587K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 691 Extracellular (Potential).|Sushi 3. 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 AACCCAAACTGGCATTCAAAC 0.373 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 72 395 --- --- --- --- PASS HAS2 3037 broad.mit.edu 37 8 122641416 122641416 + Silent SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr8:122641416T>C uc003yph.2 - 2 703 c.165A>G c.(163-165)TCA>TCG p.S55S NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 55 Helical; Name=2; (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TGATGAGGTGTGATGCCAAAA 0.408 7 601 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139155320 139155320 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr8:139155320C>T uc003yuy.2 - 16 3744 c.3573G>A c.(3571-3573)ACG>ACA p.T1191T FAM135B_uc003yux.2_Silent_p.T1092T|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.T753T|FAM135B_uc003yvb.2_3'UTR NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1191 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATAACCGATCCGTCATAGTAT 0.463 HNSCC(54;0.14) 6 215 --- --- --- --- PASS MAPK15 225689 broad.mit.edu 37 8 144803720 144803720 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr8:144803720G>A uc003yzj.2 + 12 1247 c.1206G>A c.(1204-1206)GAG>GAA p.E402E NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 402 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) ACCCCACAGAGTCCCCCCGTG 0.647 28 147 --- --- --- --- PASS SMARCA2 6595 broad.mit.edu 37 9 2081898 2081898 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:2081898A>G uc003zhc.2 + 15 2350 c.2251A>G c.(2251-2253)ATG>GTG p.M751V SMARCA2_uc003zhd.2_Missense_Mutation_p.M751V|SMARCA2_uc010mha.2_Missense_Mutation_p.M742V NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 751 ATP (Potential).|Helicase ATP-binding. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) AGCCGATGAAATGGGGCTTGG 0.433 438 105 --- --- --- --- PASS FAM75A2 642265 broad.mit.edu 37 9 39887386 39887386 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:39887386G>A uc004abp.2 + 4 402 c.373G>A c.(373-375)GAA>AAA p.E125K NM_001040065 NP_001035154 Q5RGS2 F75A2_HUMAN hypothetical protein LOC642265 125 Pro-rich. integral to membrane 0 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CCCCCCAGGTGAAGTGGGCGA 0.602 30 139 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77435287 77435287 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:77435287T>C uc004ajl.1 - 9 1305 c.1067A>G c.(1066-1068)AAC>AGC p.N356S TRPM6_uc004ajk.1_Missense_Mutation_p.N351S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.N356S|TRPM6_uc010mpd.1_Missense_Mutation_p.N356S|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 356 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 AAGACTAAAGTTGAAAGTGTT 0.423 29 126 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84609543 84609543 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:84609543G>C uc004amn.2 + 4 4205 c.4158G>C c.(4156-4158)CAG>CAC p.Q1386H NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1386 integral to membrane 0 CATGTGTGCAGAATATTGGTC 0.433 11 42 --- --- --- --- PASS NR4A3 8013 broad.mit.edu 37 9 102590726 102590726 + Nonsense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:102590726C>A uc004baf.1 + 3 1131 c.402C>A c.(400-402)TAC>TAA p.Y134* NR4A3_uc004bae.2_Nonsense_Mutation_p.Y134*|NR4A3_uc004bag.1_Nonsense_Mutation_p.Y134*|NR4A3_uc004bai.2_Nonsense_Mutation_p.Y145* NM_006981 NP_008912 Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 134 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding EWSR1/NR4A3(140)|TAF15/NR4A3(33) bone(173) 173 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CCTCCATGTACTTCAAGCAGT 0.612 T EWSR1 extraskeletal myxoid chondrosarcoma 37 86 --- --- --- --- PASS ZNF189 7743 broad.mit.edu 37 9 104171502 104171502 + Silent SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:104171502T>C uc004bbh.1 + 3 1728 c.1452T>C c.(1450-1452)TAT>TAC p.Y484Y ZNF189_uc004bbg.1_Silent_p.Y442Y|ZNF189_uc004bbi.1_Silent_p.Y470Y|ZNF189_uc011lvk.1_Silent_p.Y469Y NM_003452 NP_003443 O75820 ZN189_HUMAN zinc finger protein 189 isoform 1 484 C2H2-type 12. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(62;0.0559) AAAAGCCCTATCTATGTACTG 0.413 11 256 --- --- --- --- PASS RNF20 56254 broad.mit.edu 37 9 104324201 104324201 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:104324201T>C uc004bbn.2 + 19 2749 c.2659T>C c.(2659-2661)TCT>CCT p.S887P NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 887 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) GGAGGACATCTCTAGACTTCG 0.393 107 468 --- --- --- --- PASS DFNB31 25861 broad.mit.edu 37 9 117188639 117188639 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:117188639C>A uc004biz.3 - 4 1667 c.1018G>T c.(1018-1020)GAC>TAC p.D340Y DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.D340Y NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 340 PDZ 2. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 ACAGCCTCGTCGTGTAGGATG 0.567 25 128 --- --- --- --- PASS PAPPA 5069 broad.mit.edu 37 9 118997639 118997639 + Missense_Mutation SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:118997639T>A uc004bjn.2 + 7 2836 c.2455T>A c.(2455-2457)TTG>ATG p.L819M PAPPA_uc011lxp.1_Missense_Mutation_p.L514M|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 819 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CATCAAACTGTTGGCTGTCAG 0.537 51 81 --- --- --- --- PASS PAPPA 5069 broad.mit.edu 37 9 119033690 119033690 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:119033690G>A uc004bjn.2 + 9 3329 c.2948G>A c.(2947-2949)TGT>TAT p.C983Y PAPPA_uc011lxp.1_Missense_Mutation_p.C678Y|PAPPA_uc011lxq.1_Missense_Mutation_p.C358Y NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 983 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TCCTTCAATTGTATTGGTACG 0.413 79 290 --- --- --- --- PASS OR1B1 347169 broad.mit.edu 37 9 125391441 125391441 + Missense_Mutation SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:125391441T>A uc011lyz.1 - 1 374 c.374A>T c.(373-375)TAT>TTT p.Y125F NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GATGGCCACATAGCGATCCAG 0.512 39 80 --- --- --- --- PASS CACNA1B 774 broad.mit.edu 37 9 140772528 140772528 + Nonsense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr9:140772528C>A uc004cog.2 + 1 288 c.143C>A c.(142-144)TCG>TAG p.S48* uc004cof.1_Intron NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 48 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TACAAGCAATCGATCGCGCAG 0.428 7 15 --- --- --- --- PASS RSU1 6251 broad.mit.edu 37 10 16858988 16858988 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr10:16858988C>T uc001iok.2 - 1 395 c.93G>A c.(91-93)CTG>CTA p.L31L RSU1_uc001iol.2_Silent_p.L31L|RSU1_uc001iom.2_Intron|RSU1_uc001ion.2_Silent_p.L31L NM_152724 NP_689937 Q15404 RSU1_HUMAN ras suppressor protein 1 isoform 2 31 cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(1;7.54e-08) CGTTGACATCCAGCATGTTGG 0.567 43 76 --- --- --- --- PASS PTCHD3 374308 broad.mit.edu 37 10 27702960 27702960 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr10:27702960C>A uc001itu.2 - 1 338 c.220G>T c.(220-222)GCA>TCA p.A74S NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 74 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CGGGGGGGTGCATCGTCCCCC 0.716 38 47 --- --- --- --- PASS SAMD8 142891 broad.mit.edu 37 10 76910296 76910296 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr10:76910296C>G uc001jwx.1 + 2 113 c.10C>G c.(10-12)CCT>GCT p.P4A SAMD8_uc001jwy.1_Missense_Mutation_p.P4A NM_144660 NP_653261 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 4 sphingomyelin biosynthetic process integral to membrane 0 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) AATGGCAGGTCCTAATCAACT 0.418 4 72 --- --- --- --- PASS CYP2C18 1562 broad.mit.edu 37 10 96466684 96466684 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr10:96466684C>G uc001kjv.3 + 5 1112 c.786C>G c.(784-786)GAC>GAG p.D262E CYP2C18_uc001kjw.3_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR NM_000772 NP_000763 P33260 CP2CI_HUMAN cytochrome P450 family 2 subfamily C polypeptide 262 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(3)|lung(1)|skin(1) 5 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GTGCTCGGGACTTTATTGATT 0.318 3 162 --- --- --- --- PASS TECTB 6975 broad.mit.edu 37 10 114061861 114061861 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr10:114061861A>T uc001kzr.1 + 9 910 c.910A>T c.(910-912)AGG>TGG p.R304W NM_058222 NP_478129 Q96PL2 TECTB_HUMAN tectorin beta precursor 304 anchored to membrane|plasma membrane|proteinaceous extracellular matrix 0 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) CACTACAGGCAGGGGATTTTC 0.393 110 158 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118307905 118307905 + Missense_Mutation SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr10:118307905T>A uc001lcm.2 + 4 278 c.235T>A c.(235-237)TCC>ACC p.S79T NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 79 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) CATCAGTGGCTCCAATTTCAA 0.398 98 243 --- --- --- --- PASS TACC2 10579 broad.mit.edu 37 10 123845190 123845190 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr10:123845190T>C uc001lfv.2 + 4 3535 c.3175T>C c.(3175-3177)TGC>CGC p.C1059R TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.C1059R|TACC2_uc010qtv.1_Missense_Mutation_p.C1059R NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1059 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGCAGTTCCCTGCCTGCCAGC 0.632 13 59 --- --- --- --- PASS TRIM68 55128 broad.mit.edu 37 11 4626667 4626667 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:4626667A>T uc001lzf.1 - 2 306 c.68T>A c.(67-69)CTG>CAG p.L23Q TRIM68_uc001lzg.1_5'UTR|TRIM68_uc010qyj.1_Intron|TRIM68_uc009yek.1_Missense_Mutation_p.L23Q NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 23 RING-type. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) GGGCTCCCTCAGGAAGGTCAT 0.547 40 96 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7083729 7083729 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:7083729G>T uc001mfb.1 + 10 3293 c.2970G>T c.(2968-2970)AGG>AGT p.R990S NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 990 LRR 10. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ACATTCAGAGGCTCGGGTGAG 0.398 55 144 --- --- --- --- PASS SOX6 55553 broad.mit.edu 37 11 16340072 16340072 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:16340072C>T uc001mme.2 - 3 437 c.404G>A c.(403-405)CGC>CAC p.R135H SOX6_uc001mmd.2_Missense_Mutation_p.R125H|SOX6_uc001mmf.2_Missense_Mutation_p.R122H|SOX6_uc001mmg.2_Missense_Mutation_p.R122H|SOX6_uc001mmh.1_RNA|SOX6_uc009ygs.2_RNA|SOX6_uc001mmi.3_Missense_Mutation_p.R122H|SOX6_uc001mmj.2_Missense_Mutation_p.R122H NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 122 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 CCCTTTGCGGCGCTCTGGGGT 0.498 18 335 --- --- --- --- PASS GTF2H1 2965 broad.mit.edu 37 11 18380126 18380126 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:18380126G>C uc001moi.2 + 14 2100 c.1406G>C c.(1405-1407)GGA>GCA p.G469A GTF2H1_uc001moh.2_Missense_Mutation_p.G469A|GTF2H1_uc009yhm.2_Missense_Mutation_p.G353A|GTF2H1_uc001moj.2_Missense_Mutation_p.G157A NM_001142307 NP_001135779 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 469 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding 0 GTAGCTGTTGGAGAACTTCTA 0.383 NER 127 185 --- --- --- --- PASS FIBIN 387758 broad.mit.edu 37 11 27016253 27016253 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:27016253C>A uc001mrd.2 + 1 626 c.180C>A c.(178-180)GAC>GAA p.D60E NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog precursor 60 extracellular region|Golgi apparatus 0 GGGTGAGTGACCACAGGCGCT 0.637 11 46 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40136054 40136054 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:40136054G>T uc001mxa.1 - 2 3753 c.1789C>A c.(1789-1791)CAC>AAC p.H597N LRRC4C_uc001mxc.1_Missense_Mutation_p.H593N|LRRC4C_uc001mxd.1_Missense_Mutation_p.H593N|LRRC4C_uc001mxb.1_Missense_Mutation_p.H593N NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 597 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GAGTTATAGTGATTTAGGTGC 0.408 65 231 --- --- --- --- PASS KBTBD4 55709 broad.mit.edu 37 11 47597189 47597189 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:47597189C>T uc001nfx.2 - 3 823 c.652G>A c.(652-654)GAG>AAG p.E218K NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.E243K|KBTBD4_uc001nfz.2_Missense_Mutation_p.E234K|KBTBD4_uc001nfy.2_Missense_Mutation_p.E218K NM_016506 NP_057590 Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 218 BACK. ovary(1)|central_nervous_system(1) 2 TCTCTTTCCTCTTTATTAAAG 0.448 65 200 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433570 55433570 + Nonstop_Mutation SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:55433570T>A uc001nht.3 + 3 1193 c.928T>A c.(928-930)TAA>AAA p.*310K OR4C6_uc010rik.1_3'UTR NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GGCTGGGAAATAACTGCAATG 0.423 4 137 --- --- --- --- PASS OR5M3 219482 broad.mit.edu 37 11 56237459 56237459 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:56237459A>T uc010rjk.1 - 1 515 c.515T>A c.(514-516)ATC>AAC p.I172N NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GAAATGGTTGATCTCAATTTT 0.403 74 252 --- --- --- --- PASS FERMT3 83706 broad.mit.edu 37 11 63990580 63990580 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:63990580C>T uc001nyl.2 + 14 1892 c.1743C>T c.(1741-1743)ATC>ATT p.I581I FERMT3_uc001nym.2_Silent_p.I577I NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 581 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 TGATCCGCATCGACTTGGCCG 0.627 30 118 --- --- --- --- PASS FOSL1 8061 broad.mit.edu 37 11 65660434 65660434 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:65660434C>T uc001ogg.1 - 4 926 c.739G>A c.(739-741)GCT>ACT p.A247T FOSL1_uc010ros.1_Missense_Mutation_p.A145T NM_005438 NP_005429 P15407 FOSL1_HUMAN FOS-like antigen 1 247 cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 READ - Rectum adenocarcinoma(159;0.168) TTGCGATGAGCTGAGGCACAA 0.622 11 107 --- --- --- --- PASS SUV420H1 51111 broad.mit.edu 37 11 67926107 67926107 + Missense_Mutation SNP G T T rs144521985 byFrequency TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:67926107G>T uc001onm.1 - 11 1962 c.1706C>A c.(1705-1707)ACG>AAG p.T569K SUV420H1_uc009yse.1_Missense_Mutation_p.T155K|SUV420H1_uc001onn.1_Missense_Mutation_p.T397K|SUV420H1_uc009ysf.2_Missense_Mutation_p.T329K NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 GCAAGGTTCCGTCACACTGCT 0.507 143 141 --- --- --- --- PASS MRPL21 219927 broad.mit.edu 37 11 68664068 68664068 + Missense_Mutation SNP C T T rs148535951 byFrequency TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:68664068C>T uc001ooi.2 - 4 336 c.311G>A c.(310-312)CGC>CAC p.R104H MRPL21_uc001ooh.2_Missense_Mutation_p.R19H|MRPL21_uc010rqe.1_Missense_Mutation_p.R104H NM_181514 NP_852615 Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 isoform d 104 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTTCCACTGGCGGCTGGCAAA 0.552 132 91 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70178186 70178186 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:70178186G>C uc001opo.2 + 9 1396 c.1198G>C c.(1198-1200)GCA>CCA p.A400P PPFIA1_uc001opn.1_Missense_Mutation_p.A400P|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 400 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CCAGAGGGTGGCAGCGCTTTC 0.562 122 157 --- --- --- --- PASS PRSS23 11098 broad.mit.edu 37 11 86519229 86519229 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:86519229A>T uc001pcb.2 + 2 760 c.544A>T c.(544-546)ACC>TCC p.T182S PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.T150S NM_007173 NP_009104 O95084 PRS23_HUMAN protease, serine, 23 precursor 182 proteolysis extracellular region|nucleus serine-type endopeptidase activity p.I177fs*17(1) central_nervous_system(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CGATGGAAAAACCTATGTGAA 0.542 23 86 --- --- --- --- PASS NAALAD2 10003 broad.mit.edu 37 11 89896501 89896501 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:89896501C>A uc001pdf.3 + 10 1208 c.1099C>A c.(1099-1101)CAC>AAC p.H367N NAALAD2_uc009yvx.2_Missense_Mutation_p.H334N|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.H274N NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 367 Extracellular (Potential).|NAALADase. Zinc 2; catalytic. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TCTGGGAGGTCACCGGGACTC 0.353 93 287 --- --- --- --- PASS MMP8 4317 broad.mit.edu 37 11 102595586 102595586 + Missense_Mutation SNP T G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:102595586T>G uc001phe.2 - 1 100 c.1A>C c.(1-3)ATG>CTG p.M1L MMP8_uc010rut.1_5'Flank|MMP8_uc010ruu.1_5'UTR NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 1 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) AGGGAGAACATGATCTTCTCT 0.473 10 262 --- --- --- --- PASS GUCY1A2 2977 broad.mit.edu 37 11 106810256 106810256 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:106810256A>G uc001pjg.1 - 4 1526 c.1136T>C c.(1135-1137)CTG>CCG p.L379P GUCY1A2_uc010rvo.1_Missense_Mutation_p.L379P|GUCY1A2_uc009yxn.1_Missense_Mutation_p.L379P NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 379 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CAGTCGCAGCAGGACCCTTTC 0.468 9 234 --- --- --- --- PASS HTR3A 3359 broad.mit.edu 37 11 113848605 113848605 + Silent SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:113848605C>A uc010rxb.1 + 2 431 c.198C>A c.(196-198)ACC>ACA p.T66T HTR3A_uc010rxa.1_Silent_p.T66T|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.T45T NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 60 Extracellular (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) AGCCAACCACCGTATCCATTG 0.587 28 102 --- --- --- --- PASS SIK3 23387 broad.mit.edu 37 11 116734532 116734532 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:116734532G>C uc001ppy.2 - 15 1673 c.1637C>G c.(1636-1638)TCT>TGT p.S546C SIK3_uc001ppz.2_Missense_Mutation_p.S445C|SIK3_uc001pqa.2_Missense_Mutation_p.S546C|SIK3_uc001ppw.2_5'UTR|SIK3_uc001ppx.2_Missense_Mutation_p.L21V|SIK3_uc001pqb.2_5'Flank NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 546 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 CTTGTAGGTAGAGCTGAATAT 0.542 55 205 --- --- --- --- PASS UBASH3B 84959 broad.mit.edu 37 11 122650303 122650303 + Nonsense_Mutation SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:122650303T>A uc001pyi.3 + 4 861 c.501T>A c.(499-501)TAT>TAA p.Y167* NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing, 167 cytoplasm|nucleus protein tyrosine phosphatase activity central_nervous_system(1) 1 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) TGGAGCTCTATACGTCGTCCA 0.572 40 135 --- --- --- --- PASS OR6T1 219874 broad.mit.edu 37 11 123814150 123814150 + Silent SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:123814150A>G uc010sab.1 - 1 396 c.396T>C c.(394-396)TAT>TAC p.Y132Y NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 132 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCAGGGTCTCATAGCGGAGTG 0.557 15 59 --- --- --- --- PASS OR10G4 390264 broad.mit.edu 37 11 123886690 123886690 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:123886690G>T uc010sac.1 + 1 409 c.409G>T c.(409-411)GGG>TGG p.G137W NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CATGATGAGTGGGAGCAGGTG 0.562 212 281 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123893724 123893724 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:123893724C>T uc010sad.1 + 1 5 c.5C>T c.(4-6)TCC>TTC p.S2F NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GAAGAAATGTCCAAGACCAGC 0.512 7 237 --- --- --- --- PASS ESAM 90952 broad.mit.edu 37 11 124623856 124623856 + Nonsense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:124623856C>A uc001qav.3 - 7 1032 c.859G>T c.(859-861)GAG>TAG p.E287* VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Nonsense_Mutation_p.E214*|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Intron NM_138961 NP_620411 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule precursor 287 Cytoplasmic (Potential). blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) ATGGCATCCTCCCTAGTCATC 0.552 14 35 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124765379 124765379 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:124765379A>T uc001qbg.2 - 6 1150 c.1010T>A c.(1009-1011)GTG>GAG p.V337E ROBO4_uc010sas.1_Missense_Mutation_p.V192E|ROBO4_uc001qbh.2_Missense_Mutation_p.V227E|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 337 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CAGGAGCAGCACGTTGCTGTC 0.602 30 106 --- --- --- --- PASS SNX19 399979 broad.mit.edu 37 11 130784449 130784449 + Silent SNP G A A rs146738120 byFrequency TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr11:130784449G>A uc001qgk.3 - 1 1934 c.1386C>T c.(1384-1386)ACC>ACT p.T462T SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.T462T|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 462 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) TAACAGAGGCGGTAACATCTC 0.527 43 114 --- --- --- --- PASS C12orf4 57102 broad.mit.edu 37 12 4627411 4627411 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:4627411C>A uc001qms.2 - 8 934 c.846G>T c.(844-846)TTG>TTT p.L282F C12orf4_uc001qmt.2_Missense_Mutation_p.L282F NM_020374 NP_065107 Q9NQ89 CL004_HUMAN hypothetical protein LOC57102 282 0 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) GCATGGTCTTCAACTGGGCTC 0.428 139 138 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6131144 6131144 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:6131144C>T uc001qnn.1 - 27 3846 c.3596G>A c.(3595-3597)TGT>TAT p.C1199Y VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1199 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) AGCCACCTCACACACTGGACA 0.502 88 326 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21391925 21391925 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:21391925G>C uc001req.3 + 15 1982 c.1878G>C c.(1876-1878)TTG>TTC p.L626F NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 626 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GGGTCTACTTGGGCTTGTCTT 0.284 33 52 --- --- --- --- PASS KCNJ8 3764 broad.mit.edu 37 12 21919054 21919054 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:21919054A>G uc001rff.2 - 3 1216 c.878T>C c.(877-879)ATA>ACA p.I293T NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 293 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) CAGAATAACTATGACCTCCAA 0.517 79 79 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 12 31298407 31298407 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:31298407G>A uc010sjy.1 - 12 1578 c.1578C>T c.(1576-1578)CAC>CAT p.H526H RecName: Full=Ovostatin homolog 1; Flags: Precursor; CCCCACTGGGGTGAAGGGTGT 0.498 18 31 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49420841 49420841 + Nonsense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:49420841C>A uc001rta.3 - 48 14908 c.14908G>T c.(14908-14910)GAA>TAA p.E4970* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4970 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCTTCACCTTCTTCAGGGGGC 0.647 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 75 77 --- --- --- --- PASS DIP2B 57609 broad.mit.edu 37 12 51079640 51079640 + Missense_Mutation SNP T G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:51079640T>G uc001rwv.2 + 11 1498 c.1342T>G c.(1342-1344)TTC>GTC p.F448V DIP2B_uc009zlt.2_5'UTR NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 448 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 GCAGATTGGCTTCTTGCTAGG 0.438 19 61 --- --- --- --- PASS KRT83 3889 broad.mit.edu 37 12 52715021 52715021 + Silent SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:52715021G>T uc001saf.2 - 1 162 c.99C>A c.(97-99)ACC>ACA p.T33T NM_002282 NP_002273 P78385 KRT83_HUMAN keratin 83 33 Head. epidermis development keratin filament structural molecule activity skin(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGGGGGCGGCGGTGATGCAGC 0.692 6 27 --- --- --- --- PASS TPH2 121278 broad.mit.edu 37 12 72388230 72388230 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:72388230A>G uc009zrw.1 + 8 1094 c.953A>G c.(952-954)CAT>CGT p.H318R TPH2_uc001swy.2_Missense_Mutation_p.H228R NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 318 Iron (By similarity). aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) GACACATGCCATGAACTCTTG 0.393 86 222 --- --- --- --- PASS NTS 4922 broad.mit.edu 37 12 86272219 86272219 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:86272219G>A uc001tag.2 + 3 339 c.232G>A c.(232-234)GTT>ATT p.V78I NM_006183 NP_006174 P30990 NEUT_HUMAN neurotensin/neuromedin N preproprotein 78 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity 0 AACAGGAGAAGTTCATGAAGA 0.408 92 214 --- --- --- --- PASS SLC25A3 5250 broad.mit.edu 37 12 98987856 98987856 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:98987856C>G uc001tfo.2 + 2 220 c.100C>G c.(100-102)CCA>GCA p.P34A SLC25A3_uc001tfm.2_Missense_Mutation_p.P34A|SLC25A3_uc001tfn.2_Missense_Mutation_p.P34A|SLC25A3_uc001tfp.2_Missense_Mutation_p.P34A|SLC25A3_uc001tfq.2_5'UTR|SLC25A3_uc001tfr.2_Missense_Mutation_p.P34A|SLC25A3_uc001tfs.2_5'UTR|SLC25A3_uc009ztn.2_Missense_Mutation_p.P34A|SLC25A3_uc001tft.2_Missense_Mutation_p.P34A NM_005888 NP_005879 Q00325 MPCP_HUMAN solute carrier family 25 member 3 isoform a 34 generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity 0 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) CAGCAGCTCCCCAGGGCCCAC 0.677 6 12 --- --- --- --- PASS ACTR6 64431 broad.mit.edu 37 12 100617652 100617652 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:100617652G>A uc001thb.1 + 11 1206 c.1150G>A c.(1150-1152)GAA>AAA p.E384K ACTR6_uc001thc.1_Missense_Mutation_p.E276K|ACTR6_uc001thd.1_Missense_Mutation_p.E364K|ACTR6_uc009ztu.1_Intron|ACTR6_uc001the.1_Missense_Mutation_p.E302K|ACTR6_uc001thf.1_Missense_Mutation_p.E282K|uc001thg.1_5'Flank NM_022496 NP_071941 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog 384 cytoplasm|cytoskeleton ovary(1) 1 AGATTACGAAGAAAATGGACA 0.318 6 243 --- --- --- --- PASS RFX4 5992 broad.mit.edu 37 12 107080755 107080755 + Silent SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:107080755C>A uc001tlr.2 + 6 537 c.471C>A c.(469-471)GGC>GGA p.G157G RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Silent_p.G166G|RFX4_uc001tlt.2_Silent_p.G166G|RFX4_uc001tlv.2_Silent_p.G63G|uc001tlu.3_5'Flank NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 157 transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 GTGAGACGGGCAAGAAAGAAG 0.473 162 239 --- --- --- --- PASS CUX2 23316 broad.mit.edu 37 12 111758477 111758477 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:111758477C>T uc001tsa.1 + 17 2817 c.2664C>T c.(2662-2664)TAC>TAT p.Y888Y NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 888 CUT 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CCGAGCAGTACGAGCTGTACA 0.682 15 41 --- --- --- --- PASS GCN1L1 10985 broad.mit.edu 37 12 120567262 120567262 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:120567262C>T uc001txo.2 - 57 7721 c.7708G>A c.(7708-7710)GCT>ACT p.A2570T NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2570 HEAT 23. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATCTTCTCAGCCACCAGCCTG 0.522 122 399 --- --- --- --- PASS GCN1L1 10985 broad.mit.edu 37 12 120587435 120587435 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:120587435C>T uc001txo.2 - 36 4534 c.4521G>A c.(4519-4521)GAG>GAA p.E1507E NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1507 HEAT 8. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACGATTCCTCCTCCAGGGCAG 0.587 22 130 --- --- --- --- PASS MLEC 9761 broad.mit.edu 37 12 121132908 121132908 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:121132908A>G uc001tyy.1 + 4 753 c.602A>G c.(601-603)GAC>GGC p.D201G NM_014730 NP_055545 Q14165 MLEC_HUMAN malectin precursor 201 Lumenal (Potential). Carbohydrate (By similarity). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding ovary(1) 1 GGGTACTATGACAATCCCAAG 0.498 18 784 --- --- --- --- PASS DHX37 57647 broad.mit.edu 37 12 125473500 125473500 + Silent SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:125473500G>T uc001ugy.2 - 1 168 c.69C>A c.(67-69)GGC>GGA p.G23G NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 23 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GCTCGGGGGGGCCCTTCGAGG 0.721 11 19 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130831046 130831046 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr12:130831046C>A uc001uik.2 + 5 538 c.448C>A c.(448-450)CTT>ATT p.L150I PIWIL1_uc001uij.1_Missense_Mutation_p.L150I NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 150 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TTCAGCTCTTCTTTTTCAACA 0.413 61 174 --- --- --- --- PASS PARP4 143 broad.mit.edu 37 13 25000673 25000673 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr13:25000673C>T uc001upl.2 - 33 5016 c.4910G>A c.(4909-4911)CGC>CAC p.R1637H NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1637 Interaction with the major vault protein. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CAACCTGGTGCGAATAAACTG 0.383 78 135 --- --- --- --- PASS PDS5B 23047 broad.mit.edu 37 13 33223009 33223009 + Nonsense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr13:33223009C>T uc010abf.2 + 2 258 c.100C>T c.(100-102)CGA>TGA p.R34* PDS5B_uc001uun.2_Nonsense_Mutation_p.R34*|PDS5B_uc001uuo.2_Nonsense_Mutation_p.R34*|PDS5B_uc010abg.2_RNA|PDS5B_uc001uuq.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 34 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GATGGTGAGACGATTAAAGGT 0.398 27 103 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 93518682 93518682 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr13:93518682G>T uc010tif.1 + 8 2075 c.1709G>T c.(1708-1710)GGG>GTG p.G570V NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 570 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TTACTTCCCGGGATTTGGTAA 0.433 87 61 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20389500 20389500 + Silent SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr14:20389500A>G uc010tkw.1 + 1 735 c.735A>G c.(733-735)GCA>GCG p.A245A NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCCATATTGCAGTAGTAATAT 0.398 287 148 --- --- --- --- PASS RNF31 55072 broad.mit.edu 37 14 24619858 24619858 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr14:24619858C>A uc001wmn.1 + 8 1498 c.1249C>A c.(1249-1251)CAC>AAC p.H417N RNF31_uc001wml.1_Missense_Mutation_p.H266N|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.H232N|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 417 Polyubiquitin-binding.|RanBP2-type 3. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) GTACTGTATTCACTGTACCTT 0.562 6 335 --- --- --- --- PASS FOXG1 2290 broad.mit.edu 37 14 29237227 29237227 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr14:29237227G>A uc001wqe.2 + 1 941 c.742G>A c.(742-744)GAC>AAC p.D248N NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 248 Fork-head. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CCACTACGACGACCCGGGCAA 0.642 56 18 --- --- --- --- PASS GPR135 64582 broad.mit.edu 37 14 59930635 59930635 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr14:59930635C>T uc010apj.2 - 1 1425 c.1310G>A c.(1309-1311)CGG>CAG p.R437Q GPR135_uc001xed.2_RNA NM_022571 NP_072093 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 437 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.134) GGCCCCCAGCCGGTTGGCATA 0.632 18 11 --- --- --- --- PASS PLEKHG3 26030 broad.mit.edu 37 14 65203602 65203602 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr14:65203602C>T uc001xho.1 + 13 1646 c.1377C>T c.(1375-1377)AAC>AAT p.N459N PLEKHG3_uc001xhn.1_Silent_p.N403N|PLEKHG3_uc001xhp.2_Silent_p.N459N|PLEKHG3_uc010aqh.1_Translation_Start_Site|PLEKHG3_uc001xhq.1_5'Flank NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 459 QGRRQSEPTKHLLRQLNEKARAAGMK -> KGAGPEPPGSE EEEEEQEESLAVAEQ (in Ref. 2; AAH04298). regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGCAACTCAACGAGAAAGGTG 0.617 24 15 --- --- --- --- PASS STON2 85439 broad.mit.edu 37 14 81743259 81743259 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr14:81743259G>C uc010tvu.1 - 4 2597 c.2396C>G c.(2395-2397)CCG>CGG p.P799R STON2_uc001xvk.1_Missense_Mutation_p.P799R|STON2_uc010tvt.1_Missense_Mutation_p.P596R NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 799 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) GTTTTTGTCCGGCAGTCGGTT 0.463 237 62 --- --- --- --- PASS CATSPERB 79820 broad.mit.edu 37 14 92088265 92088265 + Silent SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr14:92088265A>G uc001xzs.1 - 19 2087 c.1947T>C c.(1945-1947)TTT>TTC p.F649F CATSPERB_uc010aub.1_Silent_p.F171F NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 649 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTGTATCTTCAAACAAGGCCT 0.383 28 47 --- --- --- --- PASS SERPINA9 327657 broad.mit.edu 37 14 94935676 94935676 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr14:94935676G>T uc001ydf.2 - 2 717 c.556C>A c.(556-558)CCC>ACC p.P186T SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_Missense_Mutation_p.P37T|SERPINA9_uc001ydg.2_Missense_Mutation_p.P150T|SERPINA9_uc001ydh.1_Missense_Mutation_p.P186T|SERPINA9_uc001ydi.1_Missense_Mutation_p.P150T NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 168 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GCAATGGAGGGGTTGGAGAAA 0.498 65 415 --- --- --- --- PASS SERPINA3 12 broad.mit.edu 37 14 95081219 95081219 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr14:95081219C>T uc001ydp.2 + 2 520 c.441C>T c.(439-441)CTC>CTT p.L147L SERPINA3_uc001ydo.3_Silent_p.L172L|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.L147L|SERPINA3_uc001yds.2_Silent_p.L147L|SERPINA3_uc010avg.2_Silent_p.L147L NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 147 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AAGAGCAACTCAGTCTGCTGG 0.532 23 114 --- --- --- --- PASS CLMN 79789 broad.mit.edu 37 14 95670677 95670677 + Missense_Mutation SNP T G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr14:95670677T>G uc001yef.2 - 9 1125 c.1009A>C c.(1009-1011)ACT>CCT p.T337P NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 337 integral to membrane actin binding 0 Epithelial(152;0.193) TGGTTAACAGTGTAGGTACGC 0.483 58 309 --- --- --- --- PASS GABRA5 2558 broad.mit.edu 37 15 27188527 27188527 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr15:27188527G>A uc001zbd.1 + 11 1382 c.1043G>A c.(1042-1044)GGC>GAC p.G348D GABRA5_uc001zbe.1_5'Flank NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 348 Cytoplasmic (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACCAAGAGAGGCTGGGCCTGG 0.527 4 9 --- --- --- --- PASS CASC5 57082 broad.mit.edu 37 15 40933128 40933128 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr15:40933128C>G uc010bbs.1 + 15 5940 c.5779C>G c.(5779-5781)CCT>GCT p.P1927A CASC5_uc010bbt.1_Missense_Mutation_p.P1901A NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 1927 Necessary for kinetochore localization and for interaction with NSL1 and DSN1. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAACACACCACCTACTCCAGA 0.373 61 189 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86284378 86284378 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr15:86284378G>T uc002blv.1 + 35 7880 c.7710G>T c.(7708-7710)GAG>GAT p.E2570D AKAP13_uc002blu.1_Missense_Mutation_p.E2574D|AKAP13_uc002blw.1_Missense_Mutation_p.E1035D|AKAP13_uc002blx.1_Missense_Mutation_p.E815D NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 2570 Interaction with ESR1.|Potential. apoptosis|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|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 CCCTCATTGAGCAGGAGAAGC 0.642 13 21 --- --- --- --- PASS SLCO3A1 28232 broad.mit.edu 37 15 92690227 92690227 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr15:92690227G>C uc002bqx.2 + 8 1727 c.1526G>C c.(1525-1527)TGT>TCT p.C509S SLCO3A1_uc002bqy.2_Missense_Mutation_p.C509S|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.C451S NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, 509 Extracellular (Potential).|Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity skin(1) 1 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CTCACGGGCTGTGCGTGCCTC 0.562 18 48 --- --- --- --- PASS WDR90 197335 broad.mit.edu 37 16 708258 708258 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:708258C>T uc002cii.1 + 22 2734 c.2680C>T c.(2680-2682)CCT>TCT p.P894S WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.P421S|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.P68S|WDR90_uc002cin.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 894 WD 9. ovary(1) 1 Hepatocellular(780;0.0218) GTGCTTTGGCCCTGCAGCTCT 0.652 11 136 --- --- --- --- PASS MSLNL 401827 broad.mit.edu 37 16 819471 819471 + Nonsense_Mutation SNP A C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:819471A>C uc002cjz.1 - 16 3119 c.3119T>G c.(3118-3120)TTA>TGA p.L1040* MIR662_hsa-mir-662|MI0003670_5'Flank NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 689 Cytoplasmic (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 AGCTGAATCTAACACCTCTGT 0.627 52 53 --- --- --- --- PASS TMC7 79905 broad.mit.edu 37 16 19033051 19033051 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:19033051C>T uc002dfq.2 + 4 691 c.561C>T c.(559-561)CTC>CTT p.L187L TMC7_uc010vao.1_Silent_p.L187L|TMC7_uc002dfp.2_Silent_p.L187L|TMC7_uc010vap.1_Silent_p.L77L NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 187 Helical; (Potential). integral to membrane skin(2)|ovary(1) 3 TGGTTTTGCTCCCAGTCTTAC 0.433 45 144 --- --- --- --- PASS CACNG3 10368 broad.mit.edu 37 16 24373168 24373168 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:24373168G>A uc002dmf.2 + 4 2132 c.932G>A c.(931-933)CGC>CAC p.R311H NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) GCCAACAGGCGCACCACGCCC 0.562 29 105 --- --- --- --- PASS TMEM219 124446 broad.mit.edu 37 16 29979362 29979362 + Silent SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:29979362A>G uc002duw.2 + 4 539 c.372A>G c.(370-372)CAA>CAG p.Q124Q uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Silent_p.Q124Q|TMEM219_uc010bzk.1_Silent_p.Q124Q|TMEM219_uc002duz.2_Silent_p.Q124Q|TMEM219_uc010bzl.1_RNA NM_194280 NP_919256 Q86XT9 TM219_HUMAN transmembrane protein 219 124 integral to membrane 0 CTGCAGGACAACTGGTCCTTA 0.483 147 179 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51171083 51171083 + Missense_Mutation SNP G T T rs140524372 TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:51171083G>T uc010vgs.1 - 3 3946 c.3915C>A c.(3913-3915)AAC>AAA p.N1305K SALL1_uc010vgr.1_Missense_Mutation_p.N1208K|SALL1_uc010cbv.2_Missense_Mutation_p.N157K NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1305 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGTTGGTTCCGTTCTCACTGC 0.567 140 100 --- --- --- --- PASS CHD9 80205 broad.mit.edu 37 16 53243469 53243469 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:53243469G>C uc002ehb.2 + 2 1692 c.1528G>C c.(1528-1530)GAG>CAG p.E510Q CHD9_uc002egy.2_Missense_Mutation_p.E510Q|CHD9_uc002egz.1_Missense_Mutation_p.E510Q|CHD9_uc002eha.1_Missense_Mutation_p.E510Q|CHD9_uc002ehc.2_Missense_Mutation_p.E510Q|CHD9_uc002ehd.2_Missense_Mutation_p.E36Q NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 510 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) GGTCATGTCTGAGAAGAAGCA 0.418 20 138 --- --- --- --- PASS CNGB1 1258 broad.mit.edu 37 16 57991254 57991254 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:57991254C>A uc002emt.2 - 12 930 c.865G>T c.(865-867)GTG>TTG p.V289L CNGB1_uc010cdh.2_Missense_Mutation_p.V283L|CNGB1_uc002emu.2_Missense_Mutation_p.V289L NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 289 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 CTGGTCTGCACATCACATATC 0.522 45 141 --- --- --- --- PASS PLEKHG4 25894 broad.mit.edu 37 16 67318231 67318231 + Silent SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:67318231G>T uc002eso.3 + 11 4098 c.1563G>T c.(1561-1563)GCG>GCT p.A521A PLEKHG4_uc002esp.3_Silent_p.A328A|PLEKHG4_uc002esq.3_Silent_p.A521A|PLEKHG4_uc010cef.2_Silent_p.A521A|PLEKHG4_uc002ess.3_Silent_p.A521A|PLEKHG4_uc010ceg.2_Silent_p.A440A NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 521 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GCTGGGAGGCGGCTGAACTGG 0.657 19 26 --- --- --- --- PASS SF3B3 23450 broad.mit.edu 37 16 70602973 70602973 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:70602973G>A uc002ezf.2 + 23 3404 c.3193G>A c.(3193-3195)GAA>AAA p.E1065K NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 1065 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) CACCAATGATGAAGTAGATGA 0.557 5 35 --- --- --- --- PASS GLG1 2734 broad.mit.edu 37 16 74499645 74499645 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:74499645G>A uc002fcy.3 - 19 2646 c.2596C>T c.(2596-2598)CTG>TTG p.L866L GLG1_uc002fcx.2_Silent_p.L866L|GLG1_uc002fcw.3_Silent_p.L855L|GLG1_uc002fcz.3_Silent_p.L283L NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 866 Cys-rich GLG1 13.|Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 GTCTCCTGCAGCTTAAATACT 0.463 246 356 --- --- --- --- PASS GLG1 2734 broad.mit.edu 37 16 74511410 74511410 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr16:74511410C>T uc002fcy.3 - 12 1899 c.1849G>A c.(1849-1851)GAA>AAA p.E617K GLG1_uc002fcx.2_Missense_Mutation_p.E617K|GLG1_uc002fcw.3_Missense_Mutation_p.E606K|GLG1_uc002fcz.3_Missense_Mutation_p.E34K NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 617 Cys-rich GLG1 9.|Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 CTTTGGACTTCAGCTCGGCAC 0.453 50 156 --- --- --- --- PASS OR3A4 390756 broad.mit.edu 37 17 3214467 3214467 + Missense_Mutation SNP T G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:3214467T>G uc002fvi.2 + 1 929 c.863T>G c.(862-864)CTG>CGG p.L288R NR_024128 RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24; Short=OR17-24; ovary(1) 1 AGCCCCATGCTGAACCCACTC 0.572 201 79 --- --- --- --- PASS SPEM1 374768 broad.mit.edu 37 17 7324849 7324849 + Nonsense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:7324849C>A uc002ggv.2 + 3 880 c.855C>A c.(853-855)TAC>TAA p.Y285* FGF11_uc010vtw.1_Nonsense_Mutation_p.Y19* NM_199339 NP_955371 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 285 Potential. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane 0 Prostate(122;0.173) CCGGCTGCTACCCCCTAGCCT 0.592 15 34 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10322230 10322230 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:10322230C>G uc002gmm.2 - 4 423 c.328G>C c.(328-330)GAG>CAG p.E110Q uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 110 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GCATAGCGCTCTTTGAGGTTG 0.428 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 223 108 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10408730 10408730 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:10408730G>T uc002gmo.2 - 20 2367 c.2273C>A c.(2272-2274)ACC>AAC p.T758N uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 758 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TTTATACTGGGTGTGGTCAAT 0.398 182 68 --- --- --- --- PASS RAI1 10743 broad.mit.edu 37 17 17696440 17696440 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:17696440G>C uc002grm.2 + 3 647 c.178G>C c.(178-180)GAG>CAG p.E60Q RAI1_uc002grn.1_Missense_Mutation_p.E60Q NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 60 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CCCGAGCTATGAGGGTGGCGC 0.662 26 9 --- --- --- --- PASS C17orf53 78995 broad.mit.edu 37 17 42225981 42225981 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:42225981G>A uc002ifi.1 + 3 995 c.810G>A c.(808-810)CCG>CCA p.P270P C17orf53_uc010czq.1_Silent_p.P270P|C17orf53_uc002ifj.1_Silent_p.P270P|C17orf53_uc002ifk.1_RNA NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 270 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) AAGTCTGTCCGCAACGCTCCC 0.562 80 311 --- --- --- --- PASS ANKFN1 162282 broad.mit.edu 37 17 54428148 54428148 + Silent SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:54428148G>C uc002iun.1 + 4 254 c.219G>C c.(217-219)ACG>ACC p.T73T NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 73 large_intestine(1)|ovary(1) 2 TGAAAATGACGCAACAAATGC 0.388 46 243 --- --- --- --- PASS USP32 84669 broad.mit.edu 37 17 58260814 58260814 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:58260814T>C uc002iyo.1 - 31 4121 c.3835A>G c.(3835-3837)ATT>GTT p.I1279V USP32_uc002iyn.1_Missense_Mutation_p.I949V NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 1279 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) AGGTGAATAATCTGGAGAAGT 0.323 118 97 --- --- --- --- PASS ABCA8 10351 broad.mit.edu 37 17 66871872 66871872 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:66871872T>C uc002jhp.2 - 34 4432 c.4253A>G c.(4252-4254)CAG>CGG p.Q1418R ABCA8_uc002jhq.2_Missense_Mutation_p.Q1458R|ABCA8_uc010wqq.1_Missense_Mutation_p.Q1453R NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 1418 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CCGGATGGCCTGCCTATAATG 0.453 12 102 --- --- --- --- PASS TSEN54 283989 broad.mit.edu 37 17 73512834 73512834 + Nonsense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:73512834G>T uc002jof.1 + 2 97 c.64G>T c.(64-66)GAG>TAG p.E22* CASKIN2_uc002joc.2_5'Flank|CASKIN2_uc002jod.2_5'Flank|TSEN54_uc002joe.1_Nonsense_Mutation_p.E22* NM_207346 NP_997229 Q7Z6J9 SEN54_HUMAN tRNA splicing endonuclease 54 homolog 22 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation nucleolus ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGCGCCCGGGAGCTCTTCGC 0.776 12 9 --- --- --- --- PASS SFRS2 6427 broad.mit.edu 37 17 74732326 74732326 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:74732326C>G uc002jsv.2 - 2 753 c.583G>C c.(583-585)GTG>CTG p.V195L SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.V195L|SFRS2_uc010wtg.1_Missense_Mutation_p.V183L|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank NM_003016 NP_003007 Q01130 SRSF2_HUMAN splicing factor, arginine/serine-rich 2 195 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity 0 CTCTTGGACACTGGGGGAGGA 0.572 6 332 --- --- --- --- PASS USP36 57602 broad.mit.edu 37 17 76795029 76795029 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:76795029G>A uc002jvz.1 - 19 3526 c.3201C>T c.(3199-3201)ACC>ACT p.T1067T USP36_uc002jwa.1_Silent_p.T1067T|USP36_uc002jvy.1_Silent_p.T127T NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 1065 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CATCAACCACGGTCTCAGTCC 0.587 68 343 --- --- --- --- PASS TBCD 6904 broad.mit.edu 37 17 80828207 80828207 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:80828207C>T uc002kfz.2 + 14 1556 c.1426C>T c.(1426-1428)CGT>TGT p.R476C TBCD_uc002kfx.1_Missense_Mutation_p.R459C|TBCD_uc002kfy.1_Missense_Mutation_p.R476C NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 476 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GGCCTTCGCGCGTGCCTATGA 0.652 45 41 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31320005 31320005 + Silent SNP A C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr18:31320005A>C uc010dmg.1 + 11 2692 c.2637A>C c.(2635-2637)TCA>TCC p.S879S ASXL3_uc002kxq.2_Silent_p.S586S NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 879 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TGTTACCTTCACCATTGGAAT 0.368 10 97 --- --- --- --- PASS NOL4 8715 broad.mit.edu 37 18 31673472 31673472 + Silent SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr18:31673472T>C uc010dmi.2 - 5 958 c.729A>G c.(727-729)GAA>GAG p.E243E NOL4_uc002kxr.3_Silent_p.E79E|NOL4_uc010xbt.1_Silent_p.E169E|NOL4_uc010dmh.2_Silent_p.E169E|NOL4_uc010xbu.1_Silent_p.E243E|NOL4_uc002kxt.3_Silent_p.E243E|NOL4_uc010xbw.1_Silent_p.E129E NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 243 nucleolus RNA binding ovary(3) 3 GCATTCTTTCTTCAAGATTGG 0.373 49 158 --- --- --- --- PASS SLC14A1 6563 broad.mit.edu 37 18 43329865 43329865 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr18:43329865C>T uc010xcn.1 + 11 1438 c.1119C>T c.(1117-1119)AAC>AAT p.N373N SLC14A1_uc010dnk.2_Silent_p.N429N|SLC14A1_uc002lbf.3_Silent_p.N373N|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Silent_p.N268N|SLC14A1_uc002lbh.3_Silent_p.N265N|SLC14A1_uc002lbi.3_Silent_p.N241N|SLC14A1_uc002lbj.3_Silent_p.N429N|SLC14A1_uc002lbk.3_Silent_p.N373N NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 373 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 CTGAAGAAAACCGCATCTTCT 0.463 83 122 --- --- --- --- PASS MAPK4 5596 broad.mit.edu 37 18 48190555 48190555 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr18:48190555A>G uc002lev.2 + 2 1227 c.227A>G c.(226-228)AAC>AGC p.N76S MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.N76S NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 76 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) GACCACGACAACATCGTCAAA 0.582 29 75 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56196470 56196470 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr18:56196470G>A uc002lhj.3 - 6 5568 c.5354C>T c.(5353-5355)GCT>GTT p.A1785V ALPK2_uc002lhk.1_Missense_Mutation_p.A1116V NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1785 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TAATACTGGAGCTAGAAACAA 0.219 48 132 --- --- --- --- PASS ZNF532 55205 broad.mit.edu 37 18 56620813 56620813 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr18:56620813A>G uc002lho.2 + 8 3479 c.2932A>G c.(2932-2934)AGC>GGC p.S978G ZNF532_uc002lhp.2_Missense_Mutation_p.S976G|ZNF532_uc010xeg.1_Missense_Mutation_p.S976G|ZNF532_uc002lhr.2_Missense_Mutation_p.S976G|ZNF532_uc002lhs.2_Missense_Mutation_p.S976G|ZNF532_uc010xeh.1_Missense_Mutation_p.S70G NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 978 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 CTTGCCTTTGAGCATTAAGCC 0.353 30 96 --- --- --- --- PASS GIPC3 126326 broad.mit.edu 37 19 3586840 3586840 + Missense_Mutation SNP G A A rs141293401 TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:3586840G>A uc002lyd.3 + 3 467 c.440G>A c.(439-441)CGG>CAG p.R147Q NM_133261 NP_573568 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 147 PDZ. breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) ATCATCAACCGGATCGAGGCA 0.622 OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 13 --- --- --- --- PASS ZNF317 57693 broad.mit.edu 37 19 9267288 9267288 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:9267288C>G uc002mku.2 + 3 301 c.26C>G c.(25-27)GCC>GGC p.A9G ZNF317_uc010xkm.1_Silent_p.V50V|ZNF317_uc002mkv.2_5'UTR|ZNF317_uc002mkw.2_Missense_Mutation_p.A9G|ZNF317_uc002mkx.2_5'UTR|ZNF317_uc002mky.2_5'UTR NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCTCCTCCAGCCACGTCCACC 0.483 116 171 --- --- --- --- PASS TYK2 7297 broad.mit.edu 37 19 10469918 10469918 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:10469918C>A uc002moc.3 - 15 2486 c.2108G>T c.(2107-2109)CGG>CTG p.R703L TYK2_uc010dxe.2_Missense_Mutation_p.R518L|TYK2_uc002mod.2_Missense_Mutation_p.R703L NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 703 Protein kinase 1. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CACATGGCCCCGCTCCCTCCG 0.637 8 7 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10602850 10602850 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:10602850G>C uc002moq.1 - 3 884 c.728C>G c.(727-729)TCC>TGC p.S243C KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.S243C NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 243 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GAAGACCTCGGACTCGCAGCG 0.632 45 24 --- --- --- --- PASS KANK2 25959 broad.mit.edu 37 19 11304076 11304076 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:11304076G>A uc010dxv.2 - 6 1238 c.680C>T c.(679-681)ACA>ATA p.T227I KANK2_uc002mqm.2_Missense_Mutation_p.T227I|KANK2_uc002mqo.3_Missense_Mutation_p.T227I|KANK2_uc002mqp.1_Missense_Mutation_p.T36I|KANK2_uc002mqq.2_Missense_Mutation_p.T227I NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 227 Potential. 0 AAGTTGTACTGTGAGCTGCCG 0.652 9 40 --- --- --- --- PASS ASNA1 439 broad.mit.edu 37 19 12848341 12848341 + Missense_Mutation SNP T G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:12848341T>G uc002muv.2 + 1 36 c.22T>G c.(22-24)TGG>GGG p.W8G C19orf43_uc002muu.2_5'Flank|ASNA1_uc002muw.2_Missense_Mutation_p.W8G NM_004317 NP_004308 O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 8 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding ovary(2) 2 Adenosine triphosphate(DB00171) GGTGGCCGGGTGGGGGGTTGA 0.567 4 4 --- --- --- --- PASS NWD1 284434 broad.mit.edu 37 19 16910814 16910814 + Missense_Mutation SNP T G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:16910814T>G uc002neu.3 + 17 3999 c.3577T>G c.(3577-3579)TCT>GCT p.S1193A NWD1_uc002net.3_Missense_Mutation_p.S1058A|NWD1_uc002nev.3_Missense_Mutation_p.S987A Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 1193 WD 9. ATP binding skin(3)|ovary(2)|pancreas(2) 7 ACAGTCCTCATCTTTCAAGGT 0.637 24 182 --- --- --- --- PASS CPAMD8 27151 broad.mit.edu 37 19 17085976 17085976 + Silent SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:17085976T>C uc002nfb.2 - 17 2174 c.2142A>G c.(2140-2142)CAA>CAG p.Q714Q NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 667 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 GCCGGCGTCGTTGTGCCGTCA 0.577 17 31 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17720816 17720816 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:17720816T>C uc002nhd.2 - 42 5008 c.5008A>G c.(5008-5010)AAA>GAA p.K1670E NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1582 C2 3. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 AACTTGCGTTTCTTGTCGCTG 0.527 126 226 --- --- --- --- PASS ZNF626 199777 broad.mit.edu 37 19 20828524 20828524 + Silent SNP G A A rs3209057 TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:20828524G>A uc002npb.1 - 3 342 c.192C>T c.(190-192)ACC>ACT p.T64T ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Silent_p.T64T NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 64 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TTCTCTTCATGGTCAAAGGTT 0.383 134 121 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22375821 22375821 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:22375821G>T uc002nqs.1 - 2 445 c.127C>A c.(127-129)CCA>ACA p.P43T NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CACCTACCTGGGGGTTCTTCC 0.433 109 279 --- --- --- --- PASS ZNF254 9534 broad.mit.edu 37 19 24309055 24309055 + Splice_Site SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:24309055G>C uc002nru.2 + 4 388 c.254_splice c.e4-1 p.G85_splice ZNF254_uc010xrk.1_Splice_Site NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ttttttttCAGGTATGTGTCC 0.303 4 68 --- --- --- --- PASS ANKRD27 84079 broad.mit.edu 37 19 33113383 33113383 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:33113383G>A uc002ntn.1 - 18 1928 c.1772C>T c.(1771-1773)ACC>ATC p.T591I NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 591 ANK 5. early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) CTGGATCTCGGTGGACGCTCC 0.522 111 343 --- --- --- --- PASS DPF1 8193 broad.mit.edu 37 19 38713068 38713068 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:38713068C>A uc002ohl.2 - 3 335 c.308G>T c.(307-309)CGC>CTC p.R103L DPF1_uc002ohm.2_Missense_Mutation_p.R103L|DPF1_uc002ohn.2_Missense_Mutation_p.R21L|DPF1_uc010xtu.1_Missense_Mutation_p.R77L|DPF1_uc010xtv.1_Missense_Mutation_p.R77L|DPF1_uc010xtw.1_Missense_Mutation_p.R77L NM_004647 NP_004638 Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 isoform 103 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding 0 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCTCCAACAGCGGGCGGGGTA 0.517 126 144 --- --- --- --- PASS EGLN2 112398 broad.mit.edu 37 19 41306706 41306706 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:41306706C>T uc010ehd.2 + 8 1230 c.229C>T c.(229-231)CGG>TGG p.R77W EGLN2_uc002opg.3_Missense_Mutation_p.R77W|EGLN2_uc002oph.2_Missense_Mutation_p.R77W|EGLN2_uc002opi.2_Missense_Mutation_p.R77W NM_080732 NP_542770 Q96KS0 EGLN2_HUMAN EGL nine (C.elegans) homolog 2 77 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) CAGCCCTCTTCGGGACGGTTT 0.672 8 19 --- --- --- --- PASS ZNF155 7711 broad.mit.edu 37 19 44500911 44500911 + Nonsense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:44500911C>G uc002oxy.1 + 5 1107 c.902C>G c.(901-903)TCA>TGA p.S301* ZNF155_uc002oxz.1_Nonsense_Mutation_p.S301*|ZNF155_uc010xwt.1_Nonsense_Mutation_p.S312* NM_003445 NP_003436 Q12901 ZN155_HUMAN zinc finger protein 155 301 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(69;0.0352) TATTTTAGGTCAAGACTTAAG 0.388 69 204 --- --- --- --- PASS TBC1D17 79735 broad.mit.edu 37 19 50384664 50384664 + Silent SNP A C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:50384664A>C uc002pqo.2 + 5 611 c.459A>C c.(457-459)GCA>GCC p.A153A TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Silent_p.A120A|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_5'Flank NM_024682 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 153 intracellular Rab GTPase activator activity 0 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CCCTGCCCGCACTGCACTTCC 0.672 15 75 --- --- --- --- PASS SHANK1 50944 broad.mit.edu 37 19 51169587 51169587 + Missense_Mutation SNP T G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:51169587T>G uc002psx.1 - 22 5649 c.5630A>C c.(5629-5631)AAG>ACG p.K1877T SHANK1_uc002psw.1_Missense_Mutation_p.K1261T NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1877 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CTGCTGAAGCTTGGAGCTGAG 0.697 19 19 --- --- --- --- PASS ZNF175 7728 broad.mit.edu 37 19 52076626 52076626 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:52076626G>T uc002pxb.2 + 2 422 c.44G>T c.(43-45)GGT>GTT p.G15V NM_007147 NP_009078 Q9Y473 ZN175_HUMAN zinc finger protein 175 15 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) CAGGTCCTGGGTCCAGAGAAG 0.557 43 207 --- --- --- --- PASS ZNF836 162962 broad.mit.edu 37 19 52660359 52660359 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:52660359T>C uc010ydi.1 - 5 951 c.577A>G c.(577-579)AAA>GAA p.K193E ZNF836_uc010ydj.1_Missense_Mutation_p.K193E NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCATATTTTTTAGAAATGTTG 0.363 53 41 --- --- --- --- PASS ZNF610 162963 broad.mit.edu 37 19 52869896 52869896 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:52869896A>G uc002pyx.3 + 6 1671 c.1265A>G c.(1264-1266)CAT>CGT p.H422R ZNF610_uc002pyy.3_Missense_Mutation_p.H422R|ZNF610_uc002pyz.3_Missense_Mutation_p.H379R|ZNF610_uc002pza.2_Missense_Mutation_p.H422R NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 422 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) CAGAGAATTCATACTGGAGAG 0.403 64 104 --- --- --- --- PASS ZNF813 126017 broad.mit.edu 37 19 53994103 53994103 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:53994103A>T uc002qbu.2 + 4 745 c.617A>T c.(616-618)CAG>CTG p.Q206L ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ACACAAAAACAGGAGGTACAC 0.348 52 180 --- --- --- --- PASS NCR1 9437 broad.mit.edu 37 19 55418006 55418006 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:55418006C>A uc002qib.2 + 3 234 c.196C>A c.(196-198)CTT>ATT p.L66I NCR1_uc002qic.2_Missense_Mutation_p.L66I|NCR1_uc002qie.2_Missense_Mutation_p.L66I|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 66 Ig-like 1.|Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) TGAAGGAAGCCTTTTTGCCGT 0.502 45 140 --- --- --- --- PASS NLRP2 55655 broad.mit.edu 37 19 55493679 55493679 + Missense_Mutation SNP T G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr19:55493679T>G uc002qij.2 + 6 699 c.613T>G c.(613-615)TTC>GTC p.F205V NLRP2_uc010yfp.1_Missense_Mutation_p.F182V|NLRP2_uc010esn.2_Missense_Mutation_p.F181V|NLRP2_uc010eso.2_Missense_Mutation_p.F202V|NLRP2_uc010esp.2_Missense_Mutation_p.F183V NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 205 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TCCCGGGCCCTTCTCATACAC 0.552 50 196 --- --- --- --- PASS ANGPT4 51378 broad.mit.edu 37 20 896737 896737 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:896737C>T uc002wei.2 - 1 224 c.121G>A c.(121-123)GGC>AGC p.G41S ANGPT4_uc010zpn.1_Missense_Mutation_p.G35S NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 41 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 CTACAGTGGCCGTGCTGGACT 0.617 63 78 --- --- --- --- PASS SNPH 9751 broad.mit.edu 37 20 1277791 1277791 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:1277791G>T uc002wes.2 + 4 289 c.53G>T c.(52-54)CGC>CTC p.R18L SNPH_uc002wet.2_Missense_Mutation_p.R62L NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 18 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 GCCTCCAGGCGCACCTCTCCA 0.662 7 46 --- --- --- --- PASS SNPH 9751 broad.mit.edu 37 20 1286156 1286156 + Missense_Mutation SNP C G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:1286156C>G uc002wes.2 + 6 1179 c.943C>G c.(943-945)CAG>GAG p.Q315E SNPH_uc002wet.2_Missense_Mutation_p.Q359E NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 315 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 GCGTGCCATCCAGACAGACTT 0.627 63 150 --- --- --- --- PASS C20orf79 140856 broad.mit.edu 37 20 18794887 18794887 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:18794887G>A uc002wrk.2 + 1 518 c.428G>A c.(427-429)AGC>AAC p.S143N uc002wrj.1_Intron NM_178483 NP_848578 Q9UJQ7 CT079_HUMAN hypothetical protein LOC140856 143 SCP2. sterol binding skin(3) 3 GTTCTGCTTAGCTGGAAGCTG 0.443 6 172 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20552580 20552580 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:20552580T>C uc002wrz.2 - 22 3055 c.2912A>G c.(2911-2913)AAT>AGT p.N971S RALGAPA2_uc010gcx.2_Missense_Mutation_p.N675S|RALGAPA2_uc010zsg.1_Missense_Mutation_p.N419S NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 971 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 TATTGCTAGATTATCCCGTAT 0.403 20 16 --- --- --- --- PASS CD93 22918 broad.mit.edu 37 20 23065010 23065010 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:23065010C>T uc002wsv.2 - 1 1968 c.1820G>A c.(1819-1821)CGC>CAC p.R607H NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 607 Cytoplasmic (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCTCCGCTTGCGATAGACCAG 0.582 101 288 --- --- --- --- PASS NINL 22981 broad.mit.edu 37 20 25434199 25434199 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:25434199G>T uc002wux.1 - 24 4111 c.4037C>A c.(4036-4038)GCC>GAC p.A1346D NINL_uc010gdn.1_Missense_Mutation_p.A997D|NINL_uc002wuw.1_Missense_Mutation_p.A137D NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 1346 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CTCCTCGGTGGCCTGAAGTGC 0.567 7 118 --- --- --- --- PASS POFUT1 23509 broad.mit.edu 37 20 30822339 30822339 + Missense_Mutation SNP G T T rs35259534 byFrequency TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:30822339G>T uc002wxp.2 + 7 1091 c.1042G>T c.(1042-1044)GAC>TAC p.D348Y POFUT1_uc010ztt.1_Missense_Mutation_p.D240Y|POFUT1_uc010ztu.1_Missense_Mutation_p.D137Y NM_015352 NP_056167 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 isoform 1 348 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CGGCCAAGCCGACCACTTTAT 0.592 254 104 --- --- --- --- PASS BPIL3 128859 broad.mit.edu 37 20 31622902 31622902 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:31622902G>T uc010zuc.1 + 5 468 c.468G>T c.(466-468)ATG>ATT p.M156I BPIL3_uc010zud.1_Missense_Mutation_p.M95I NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 156 extracellular region lipid binding ovary(1)|pancreas(1) 2 TCCCCAAGATGGTCAACAAGT 0.572 11 253 --- --- --- --- PASS KIAA0406 9675 broad.mit.edu 37 20 36611922 36611922 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:36611922C>A uc002xhl.2 - 9 3415 c.3206G>T c.(3205-3207)GGG>GTG p.G1069V KIAA0406_uc002xhm.2_Missense_Mutation_p.G1069V NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 1069 binding 0 Myeloproliferative disorder(115;0.00874) CCCGCTGGCCCCGTGCAGCTG 0.652 12 35 --- --- --- --- PASS ZSWIM3 140831 broad.mit.edu 37 20 44506879 44506879 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:44506879G>A uc002xqd.2 + 2 1885 c.1682G>A c.(1681-1683)TGC>TAC p.C561Y ZSWIM3_uc010zxg.1_Missense_Mutation_p.C555Y|ZSWIM1_uc010zxh.1_5'Flank|ZSWIM1_uc010ghi.2_5'Flank NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 561 SWIM-type. zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) CACCTGCCATGCCGACACATT 0.572 20 54 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44685078 44685078 + Silent SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:44685078G>A uc010zxl.1 + 23 3130 c.3054G>A c.(3052-3054)GGG>GGA p.G1018G SLC12A5_uc002xrb.2_Silent_p.G995G NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 1018 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGCCTGAGGGGGAAGGGGAGA 0.617 21 43 --- --- --- --- PASS SLC13A3 64849 broad.mit.edu 37 20 45228639 45228639 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:45228639C>T uc002xsf.1 - 4 617 c.579G>A c.(577-579)ACG>ACA p.T193T SLC13A3_uc010ghn.1_Silent_p.T162T|SLC13A3_uc010zxw.1_Intron|SLC13A3_uc002xsg.1_Silent_p.T146T|SLC13A3_uc010gho.1_Silent_p.T146T|SLC13A3_uc010zxx.1_Silent_p.T95T NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN solute carrier family 13 member 3 isoform a 193 Cytoplasmic (Potential). integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) ACTGCATCTCCGTGGGCACAG 0.468 36 121 --- --- --- --- PASS GNAS 2778 broad.mit.edu 37 20 57415276 57415276 + Missense_Mutation SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:57415276A>G uc002xzt.2 + 1 482 c.115A>G c.(115-117)ATC>GTC p.I39V GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN GNAS complex locus NESP55 Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTCCTGCTCCATCGCGCTCCT 0.716 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 22 34 --- --- --- --- PASS CTSZ 1522 broad.mit.edu 37 20 57576578 57576578 + Nonsense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:57576578G>T uc002yai.2 - 3 555 c.429C>A c.(427-429)TAC>TAA p.Y143* CTSZ_uc002yaj.3_Nonsense_Mutation_p.Y143* NM_001336 NP_001327 Q9UBR2 CATZ_HUMAN cathepsin Z preproprotein 143 proteolysis endoplasmic reticulum|extracellular space|lysosome cysteine-type endopeptidase activity kidney(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) GCTGGTGGGCGTAGTCCCACA 0.652 19 32 --- --- --- --- PASS BAGE2 85319 broad.mit.edu 37 21 11097576 11097576 + Nonsense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr21:11097576C>T uc002yit.1 - 2 294 c.86G>A c.(85-87)TGG>TAG p.W29* BAGE_uc002yix.2_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ctccaacctccagctcaccac 0.095 11 123 --- --- --- --- PASS SFRS15 57466 broad.mit.edu 37 21 33044665 33044665 + Missense_Mutation SNP T A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr21:33044665T>A uc002ypd.2 - 20 2917 c.2491A>T c.(2491-2493)ACT>TCT p.T831S SFRS15_uc002ype.2_Missense_Mutation_p.T809S|SFRS15_uc010glu.2_Missense_Mutation_p.T816S NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 831 nucleus nucleotide binding|RNA binding 0 ACTCCTTGAGTGCCTAAAAGA 0.507 51 25 --- --- --- --- PASS BRWD1 54014 broad.mit.edu 37 21 40558971 40558971 + Missense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr21:40558971C>A uc002yxk.1 - 42 7083 c.6944G>T c.(6943-6945)TGG>TTG p.W2315L BRWD1_uc010goc.1_Missense_Mutation_p.W958L NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 2315 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATTTTCTTTCCAGGATCTGAA 0.343 5 211 --- --- --- --- PASS TFF1 7031 broad.mit.edu 37 21 43783371 43783371 + Silent SNP A G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr21:43783371A>G uc002zax.1 - 2 271 c.231T>C c.(229-231)CCT>CCC p.P77P NM_003225 NP_003216 P04155 TFF1_HUMAN trefoil factor 1 precursor 77 carbohydrate metabolic process|response to estradiol stimulus growth factor activity 0 TACCTTCTGGAGGGACGTCGA 0.483 29 64 --- --- --- --- PASS WDR4 10785 broad.mit.edu 37 21 44273748 44273748 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr21:44273748C>T uc002zci.2 - 9 979 c.906G>A c.(904-906)GGG>GGA p.G302G WDR4_uc002zck.1_Silent_p.G302G|WDR4_uc002zcl.1_Silent_p.G156G|WDR4_uc010gpg.1_Silent_p.G301G|WDR4_uc011aew.1_Silent_p.G156G|WDR4_uc010gph.1_Silent_p.G156G NM_033661 NP_387510 P57081 WDR4_HUMAN WD repeat domain 4 protein 302 WD 4. tRNA modification cytoplasm|nucleoplasm protein binding ovary(1) 1 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) GCACCCACAGCCCCTGGGTCT 0.632 15 7 --- --- --- --- PASS KRTAP10-12 386685 broad.mit.edu 37 21 46117824 46117824 + Nonsense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr21:46117824C>A uc002zfw.1 + 1 738 c.708C>A c.(706-708)TGC>TGA p.C236* C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198699 NP_941972 P60413 KR10C_HUMAN keratin associated protein 10-12 236 keratin filament 0 CCCTCCTCTGCCGCCCCACAT 0.716 30 29 --- --- --- --- PASS IGLL3 91353 broad.mit.edu 37 22 25716034 25716034 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr22:25716034C>T uc003abr.2 + 2 756 c.656C>T c.(655-657)GCC>GTC p.A219V NM_001013618 NP_001013640 immunoglobulin lambda-like polypeptide 3 0 AAGACGGTGGCCCCTGCAGAA 0.637 38 63 --- --- --- --- PASS DEPDC5 9681 broad.mit.edu 37 22 32242824 32242824 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr22:32242824G>A uc003als.2 + 31 3141 c.2999G>A c.(2998-3000)GGG>GAG p.G1000E DEPDC5_uc011als.1_Missense_Mutation_p.G931E|DEPDC5_uc011alu.1_Missense_Mutation_p.G1009E|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.G1000E|DEPDC5_uc003alu.2_Missense_Mutation_p.G449E|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.G330E|DEPDC5_uc003alw.2_Missense_Mutation_p.G298E|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.G4E NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1000 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 CTTTAGAAAGGGACCGCCATG 0.582 14 92 --- --- --- --- PASS FOXRED2 80020 broad.mit.edu 37 22 36886290 36886290 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr22:36886290G>A uc003apn.3 - 8 1928 c.1820C>T c.(1819-1821)ACG>ATG p.T607M FOXRED2_uc003apm.3_Missense_Mutation_p.T159M|FOXRED2_uc003apo.3_Missense_Mutation_p.T607M|FOXRED2_uc003app.3_Missense_Mutation_p.T607M NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 607 T -> A (in Ref. 2; BAB15227). ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding lung(1)|kidney(1) 2 CTTCTGGCGCGTGAGGGCGAA 0.582 187 280 --- --- --- --- PASS SSTR3 6753 broad.mit.edu 37 22 37603578 37603578 + Missense_Mutation SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr22:37603578C>T uc003ara.2 - 2 327 c.265G>A c.(265-267)GCC>ACC p.A89T SSTR3_uc003arb.2_Missense_Mutation_p.A89T NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 89 Helical; Name=2; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 AGCTCGTCGGCCAGCGCCAGG 0.652 72 89 --- --- --- --- PASS FAM83F 113828 broad.mit.edu 37 22 40417597 40417597 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr22:40417597C>T uc003ayk.1 + 4 1177 c.1083C>T c.(1081-1083)GGC>GGT p.G361G NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN hypothetical protein LOC113828 361 breast(1) 1 AGGAGGAGGGCGCCAGCGGTG 0.721 14 25 --- --- --- --- PASS PLCXD1 55344 broad.mit.edu 37 X 205453 205453 + Nonsense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:205453G>T uc004cpc.2 + 3 493 c.181G>T c.(181-183)GAG>TAG p.E61* PLCXD1_uc011mgx.1_RNA NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X 61 PI-PLC X-box. intracellular signal transduction|lipid metabolic process phospholipase C activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CATTTCGCACGAGGAGTCCCG 0.622 100 115 --- --- --- --- PASS CD99 4267 broad.mit.edu 37 X 2637713 2637713 + Missense_Mutation SNP G C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:2637713G>C uc004cqm.2 + 4 334 c.160G>C c.(160-162)GAC>CAC p.D54H CD99_uc010nda.2_Missense_Mutation_p.D38H|CD99_uc004cqn.2_RNA|CD99_uc004cqo.2_Missense_Mutation_p.D54H NM_002414 NP_002405 P14209 CD99_HUMAN CD99 antigen isoform a precursor 54 Extracellular (Potential). cell adhesion cytoplasm|integral to plasma membrane skin(1) 1 GGATGACTTTGACTTAGGAGA 0.403 9 891 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21450923 21450923 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:21450923G>T uc004czx.1 + 3 458 c.422G>T c.(421-423)TGG>TTG p.W141L CNKSR2_uc004czw.2_Missense_Mutation_p.W141L|CNKSR2_uc011mjn.1_Missense_Mutation_p.W141L|CNKSR2_uc011mjo.1_Missense_Mutation_p.W141L NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 141 CRIC. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 CTGCTTGCCTGGTTGGACAGG 0.443 109 33 --- --- --- --- PASS MAGEB18 286514 broad.mit.edu 37 X 26158006 26158006 + Missense_Mutation SNP T G G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:26158006T>G uc004dbq.1 + 2 1091 c.904T>G c.(904-906)TGC>GGC p.C302G NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 302 MAGE. protein binding central_nervous_system(1) 1 CTTCCCATCCTGCTATGAAGA 0.522 26 3 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34148451 34148451 + Nonsense_Mutation SNP C A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:34148451C>A uc004ddg.2 - 1 1978 c.1945G>T c.(1945-1947)GAG>TAG p.E649* NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 649 ovary(4)|central_nervous_system(1) 5 GAGGAACACTCCTTTACTTTC 0.453 115 33 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37029404 37029404 + Missense_Mutation SNP A T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:37029404A>T uc004ddl.1 + 1 2935 c.2921A>T c.(2920-2922)GAC>GTC p.D974V NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 974 ovary(3) 3 GACATTCTTGACGGTCTTTAT 0.458 190 58 --- --- --- --- PASS ZNF81 347344 broad.mit.edu 37 X 47774987 47774987 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:47774987G>T uc010nhy.1 + 6 1310 c.942G>T c.(940-942)AAG>AAT p.K314N NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 314 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) TTACACAGAAGCCACTACTCA 0.358 63 15 --- --- --- --- PASS SSX7 280658 broad.mit.edu 37 X 52679419 52679419 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:52679419T>C uc004dqx.1 - 5 473 c.314A>G c.(313-315)CAG>CGG p.Q105R NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding skin(1) 1 Ovarian(276;0.236) GAAGATTCTCTGGAGCCTGCA 0.408 12 172 --- --- --- --- PASS RPS6KA6 27330 broad.mit.edu 37 X 83419352 83419352 + Missense_Mutation SNP T C C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:83419352T>C uc004eej.1 - 2 202 c.125A>G c.(124-126)GAA>GGA p.E42G RPS6KA6_uc011mqt.1_Missense_Mutation_p.E42G|RPS6KA6_uc011mqu.1_5'UTR NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 42 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 AGAATCTGCTTCTCCCTCTTC 0.313 4 117 --- --- --- --- PASS TCEAL2 140597 broad.mit.edu 37 X 101382147 101382147 + Missense_Mutation SNP G T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:101382147G>T uc004eip.2 + 3 564 c.345G>T c.(343-345)GAG>GAT p.E115D NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 cagagagtgagggagagCCAG 0.239 64 13 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105152720 105152720 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:105152720G>A uc004emd.2 + 13 1390 c.1087G>A c.(1087-1089)GGA>AGA p.G363R NRK_uc010npc.1_Missense_Mutation_p.G31R NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 363 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TTATTTTAGAGGACCCTCTTG 0.443 HNSCC(51;0.14) 39 16 --- --- --- --- PASS MCF2 4168 broad.mit.edu 37 X 138671994 138671994 + Silent SNP C T T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:138671994C>T uc004fau.2 - 20 2664 c.2370G>A c.(2368-2370)CAG>CAA p.Q790Q MCF2_uc004fav.2_Silent_p.Q806Q|MCF2_uc011mwl.1_Silent_p.Q767Q|MCF2_uc010nsh.1_Silent_p.Q790Q|MCF2_uc011mwm.1_Silent_p.Q751Q|MCF2_uc011mwn.1_Silent_p.Q935Q|MCF2_uc004faw.2_Silent_p.Q850Q|MCF2_uc011mwo.1_Silent_p.Q866Q NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 790 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) AATGACCAACCTGGACAATAT 0.318 72 19 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140995192 140995192 + Missense_Mutation SNP G A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chrX:140995192G>A uc004fbt.2 + 4 2288 c.2002G>A c.(2002-2004)GAG>AAG p.E668K MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 668 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GAGCCCTCCTGAGGGGATGCA 0.577 HNSCC(15;0.026) 6 417 --- --- --- --- PASS LOC100128164 100128164 broad.mit.edu 37 3 169664945 169664946 + RNA DEL GT - - TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr3:169664945_169664946delGT uc011bpp.1 - 2 c.2857_2858delAC NR_027622 Homo sapiens cDNA FLJ41016 fis, clone UTERU2018784. 0 AGGTATATTCgtgtgtgtgtgt 0.168 4 2 --- --- --- --- CROT 54677 broad.mit.edu 37 7 87027922 87027923 + Frame_Shift_Del DEL CA - - TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:87027922_87027923delCA uc003uit.2 + 18 2046_2047 c.1801_1802delCA c.(1801-1803)CATfs p.H601fs CROT_uc003uiu.2_Frame_Shift_Del_p.H629fs NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 601 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TTGTGCTTTTCATGATATGATA 0.396 107 133 --- --- --- --- HEPACAM2 253012 broad.mit.edu 37 7 92848753 92848754 + Frame_Shift_Ins INS - A A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr7:92848753_92848754insA uc003umm.2 - 2 113_114 c.90_91insT c.(88-93)TCGGGGfs p.S30fs HEPACAM2_uc003uml.2_Frame_Shift_Ins_p.S18fs|HEPACAM2_uc010lff.2_Frame_Shift_Ins_p.S18fs|HEPACAM2_uc011khy.1_Frame_Shift_Ins_p.S53fs NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 30_31 G -> R (in a breast cancer sample; somatic mutation). integral to membrane p.G19R(1) ovary(3)|breast(1)|kidney(1) 5 ACCTTCAGCCCCGAGCAAGCAC 0.515 198 190 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113332151 113332151 + Frame_Shift_Del DEL C - - TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr8:113332151delC uc003ynu.2 - 46 7384 c.7225delG c.(7225-7227)GAAfs p.E2409fs CSMD3_uc003yns.2_Frame_Shift_Del_p.E1611fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.E2369fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.E2305fs|CSMD3_uc003ynw.1_Frame_Shift_Del_p.E120fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2409 Extracellular (Potential).|Sushi 13. 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 TCATCATCTTCCGTCAAAATT 0.358 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 157 195 --- --- --- --- ANKRD30A 91074 broad.mit.edu 37 10 37440998 37440998 + Frame_Shift_Del DEL C - - TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr10:37440998delC uc001iza.1 + 12 1587 c.1488delC c.(1486-1488)TTCfs p.F496fs NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 552 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATCCGATGTTCCCACCAGAAT 0.284 85 37 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578195 7578197 + In_Frame_Del DEL CAC - - TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr17:7578195_7578197delCAC uc002gim.2 - 6 846_848 c.652_654delGTG c.(652-654)GTGdel p.V218del TP53_uc002gig.1_In_Frame_Del_p.V218del|TP53_uc002gih.2_In_Frame_Del_p.V218del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.V86del|TP53_uc010cng.1_In_Frame_Del_p.V86del|TP53_uc002gii.1_In_Frame_Del_p.V86del|TP53_uc010cnh.1_In_Frame_Del_p.V218del|TP53_uc010cni.1_In_Frame_Del_p.V218del|TP53_uc002gij.2_In_Frame_Del_p.V218del|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_In_Frame_Del_p.V125del|TP53_uc002gio.2_In_Frame_Del_p.V86del|TP53_uc010vug.1_In_Frame_Del_p.V179del NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 218 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> E (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.V218E(8)|p.V218M(7)|p.0?(7)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.K164_P219del(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V218_P219insX(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.?(1)|p.V218L(1)|p.V218_E221delVPYE(1)|p.V218V(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(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) GCTCATAGGGCACCACCACACTA 0.552 111 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) 25 45 --- --- --- --- MC3R 4159 broad.mit.edu 37 20 54823995 54823995 + Frame_Shift_Del DEL C - - TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx a678cc49-9009-4027-826f-e17f4533538d 843162db-7cdc-45db-b873-ff066eb78fcf g.chr20:54823995delC uc002xxb.2 + 1 208 c.96delC c.(94-96)AGCfs p.S32fs NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 69 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) AGAGCAGCAGCGCCTTCTGTG 0.562 195 86 --- --- --- ---