Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut ATAD3B 83858 broad.mit.edu 37 1 1412652 1412652 + Splice_Site SNP A A T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:1412652A>T uc001afv.2 + 2 307 c.206_splice c.e2-2 p.R69_splice ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.2_5'Flank NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ATGCGCCCGCAGGTTACGCCA 0.453 NA 10 9 0 0 0.010729 0 0 CLSTN1 22883 broad.mit.edu 37 1 9811565 9811565 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:9811565G>A uc001aqh.2 - 5 1374 c.615C>T c.(613-615)ATC>ATT p.I205I CLSTN1_uc001aqi.2_Silent_p.I195I|CLSTN1_uc010oag.1_Silent_p.I205I NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 205 Cadherin 2.|Extracellular (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) CGTCTGGAGTGATGATTTCGT 0.532 NA 4 56 0 0 0.009096 0 0 ZBTB40 9923 broad.mit.edu 37 1 22816582 22816582 + Silent SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:22816582C>G uc001bft.2 + 3 652 c.141C>G c.(139-141)CTC>CTG p.L47L ZBTB40_uc001bfu.2_Silent_p.L47L|ZBTB40_uc009vqi.1_Silent_p.L47L NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 47 BTB. bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CTGCCAGCCTCCTGTTCAAAA 0.512 NA 3 77 0 0 0.004672 0 0 ZNF436 80818 broad.mit.edu 37 1 23693616 23693616 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:23693616C>T uc001bgt.2 - 2 460 c.79G>A c.(79-81)GAA>AAA p.E27K ZNF436_uc001bgu.2_Missense_Mutation_p.E27K|C1orf213_uc001bgv.2_5'Flank|C1orf213_uc001bgw.2_5'Flank NM_030634 NP_085137 Q9C0F3 ZN436_HUMAN zinc finger protein 436 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GGTCTCCATTCTTCCCGGGTG 0.443 NA 16 69 0 0 0.00499 0 0 MAP3K6 9064 broad.mit.edu 37 1 27687484 27687484 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:27687484G>C uc001bny.1 - 14 2097 c.1848C>G c.(1846-1848)ATC>ATG p.I616M MAP3K6_uc009vsw.1_Missense_Mutation_p.I608M|MAP3K6_uc001bnz.1_Missense_Mutation_p.I139M NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 616 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCCAGGCCTGGATCAGGCCGC 0.692 NA 10 11 0 0 0.008291 0 0 MECR 51102 broad.mit.edu 37 1 29528493 29528493 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:29528493C>G uc001brq.1 - 6 754 c.718G>C c.(718-720)GAG>CAG p.E240Q MECR_uc001brp.1_Missense_Mutation_p.E164Q|MECR_uc001brr.1_Missense_Mutation_p.E164Q|MECR_uc001brs.1_RNA|MECR_uc001brt.1_Missense_Mutation_p.E164Q|MECR_uc010ofz.1_Missense_Mutation_p.E240Q NM_016011 NP_057095 Q9BV79 MECR_HUMAN trans-2-enoyl-CoA reductase, mitochondrial 240 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding ovary(1) 1 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) CTTAGCTCCTCTTCTGTGATG 0.498 NA 6 331 0 0 0.001168 0 0 MKNK1 8569 broad.mit.edu 37 1 47028476 47028476 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:47028476C>A uc001cqb.2 - 11 1052 c.808G>T c.(808-810)GTC>TTC p.V270F MKNK1_uc010omd.1_Missense_Mutation_p.V134F|MKNK1_uc001cqc.2_Missense_Mutation_p.V229F|MKNK1_uc009vyi.2_Missense_Mutation_p.V229F|MKNK1_uc010ome.1_Missense_Mutation_p.V134F|MKNK1_uc009vyj.2_Missense_Mutation_p.V174F NM_003684 NP_003675 Q9BUB5 MKNK1_HUMAN MAP kinase-interacting serine/threonine kinase 1 270 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Acute lymphoblastic leukemia(166;0.155) TCCGTGAAGACCTCCACTACC 0.602 NA 7 17 0.00448238 0.00460689 0.004482 1 0 SGIP1 84251 broad.mit.edu 37 1 67154913 67154913 + Silent SNP A A T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:67154913A>T uc001dcr.2 + 16 1615 c.1398A>T c.(1396-1398)CCA>CCT p.P466P SGIP1_uc010opd.1_Silent_p.P66P|SGIP1_uc001dcs.2_Silent_p.P66P|SGIP1_uc001dct.2_Silent_p.P66P|SGIP1_uc009wat.2_Silent_p.P260P NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 466 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 CCCGGCCTCCATCCCGGCCAA 0.537 NA 69 223 0 0 0.01441 0 0 LRRC7 57554 broad.mit.edu 37 1 70488908 70488908 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:70488908G>T uc001dep.2 + 15 1561 c.1531G>T c.(1531-1533)GAT>TAT p.D511Y LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 511 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GGCCAGGTGTGATCAGCAGAT 0.577 NA 24 49 1.85244e-09 2.12528e-09 0.01892 1 0 PRKACB 5567 broad.mit.edu 37 1 84662323 84662323 + Silent SNP A A T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:84662323A>T uc001djj.2 + 6 708 c.444A>T c.(442-444)GCA>GCT p.A148A PRKACB_uc001djl.2_Silent_p.A195A|PRKACB_uc010ort.1_Silent_p.A155A|PRKACB_uc001djn.2_Silent_p.A152A|PRKACB_uc010oru.1_Silent_p.A136A|PRKACB_uc001djp.2_Silent_p.A154A|PRKACB_uc001djq.2_Silent_p.A118A|PRKACB_uc010orv.1_Silent_p.A135A|PRKACB_uc001dji.2_Silent_p.A148A|PRKACB_uc001djk.2_Silent_p.A195A|PRKACB_uc009wcf.1_Silent_p.A154A NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 148 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) GGTTCTATGCAGCTCAGATAG 0.358 NA 15 41 0 0 0.003163 0 0 CELSR2 1952 broad.mit.edu 37 1 109794155 109794155 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:109794155C>G uc001dxa.3 + 1 1515 c.1454C>G c.(1453-1455)TCT>TGT p.S485C NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 485 Cadherin 3.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCCCCACTCTCTAATGTCTCT 0.567 NSCLC(158;1285 2011 34800 34852 42084) NA 5 258 0 0 0.001168 0 0 AHCYL1 10768 broad.mit.edu 37 1 110562203 110562203 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:110562203G>A uc001dyx.2 + 15 1787 c.1420G>A c.(1420-1422)GAG>AAG p.E474K AHCYL1_uc010ovw.1_Missense_Mutation_p.E427K|AHCYL1_uc001dyy.2_Missense_Mutation_p.E427K|AHCYL1_uc010ovx.1_Missense_Mutation_p.E427K NM_006621 NP_006612 O43865 SAHH2_HUMAN S-adenosylhomocysteine hydrolase-like 1 474 one-carbon metabolic process endoplasmic reticulum adenosylhomocysteinase activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143) TAATGCACCCGAGGGGCGATA 0.408 NA 35 124 0 0 0.007835 0 0 SLC16A4 9122 broad.mit.edu 37 1 110921598 110921598 + Missense_Mutation SNP T T C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:110921598T>C uc001dzo.1 - 6 1089 c.907A>G c.(907-909)ATA>GTA p.I303V SLC16A4_uc009wfs.1_Missense_Mutation_p.I255V|SLC16A4_uc001dzp.1_Intron|SLC16A4_uc010ovy.1_Missense_Mutation_p.I241V|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Missense_Mutation_p.I193V NM_004696 NP_004687 O15374 MOT5_HUMAN solute carrier family 16, member 4 303 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity ovary(3) 3 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) CAAGTAAATATGTAGAAGAAA 0.398 NA 17 53 0 0 0.004007 0 0 CHRNB2 1141 broad.mit.edu 37 1 154543767 154543767 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:154543767G>C uc001ffg.2 + 5 732 c.468G>C c.(466-468)AAG>AAC p.K156N NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 156 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) GCGCATGCAAGATTGAAGTAA 0.527 NA 13 132 0 0 0.016723 0 0 SPTA1 6708 broad.mit.edu 37 1 158615379 158615379 + Missense_Mutation SNP A A C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:158615379A>C uc001fst.1 - 28 4101 c.3902T>G c.(3901-3903)CTG>CGG p.L1301R NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1301 Spectrin 13. 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) CCAGTTCTGCAGATCCCTAGA 0.428 NA 26 125 0 0 0.005443 0 0 DDR2 4921 broad.mit.edu 37 1 162729613 162729613 + Silent SNP C C T rs56351141 byFrequency TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:162729613C>T uc001gcf.2 + 9 1164 c.699C>T c.(697-699)ACC>ACT p.T233T DDR2_uc001gcg.2_Silent_p.T233T NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 233 Extracellular (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GCCAATTGACCGATGGTGTGT 0.537 NSCLC(161;314 2006 8283 19651 23192) NA 4 106 0 0 0.014758 0 0 PBX1 5087 broad.mit.edu 37 1 164769122 164769122 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:164769122G>T uc001gct.2 + 4 955 c.697G>T c.(697-699)GCG>TCG p.A233S PBX1_uc010pku.1_Missense_Mutation_p.A233S|PBX1_uc010pkv.1_Missense_Mutation_p.A150S|PBX1_uc001gcs.2_Missense_Mutation_p.A233S|PBX1_uc010pkw.1_Missense_Mutation_p.A123S NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 233 Homeobox; TALE-type. negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 ATTTCTGGATGCGCGGTGAGT 0.612 NA T TCF3|EWSR1 pre B-ALL|myoepithelioma 12 35 5.16669e-11 6.09298e-11 0.010729 1 0 SLC9A11 284525 broad.mit.edu 37 1 173569349 173569349 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:173569349C>T uc001giz.2 - 3 558 c.135G>A c.(133-135)TTG>TTA p.L45L SLC9A11_uc010pmq.1_Intron NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 45 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 AACACATCTTCAAAAGCCcta 0.219 NA 8 32 0 0 0.004482 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174244980 174244981 + Missense_Mutation DNP GG GG AA TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:174244980_174244981GG>AA uc001gjx.2 + 9 1258_1259 c.1063_1064GG>AA c.(1063-1065)GGA>AAA p.G355K RABGAP1L_uc009wwq.1_Missense_Mutation_p.G367K|RABGAP1L_uc001gjw.2_Missense_Mutation_p.G318K|RABGAP1L_uc001gjy.2_Missense_Mutation_p.G23K|RABGAP1L_uc001gjz.2_Missense_Mutation_p.G2K NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 355 regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 GGAATCCATGGGAAAGAGCTAT 0.347 NA 7 100 0 0 0.004672 0 0 ASTN1 460 broad.mit.edu 37 1 177133755 177133755 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:177133755G>A uc001glc.2 - 1 270 c.58C>T c.(58-60)CTG>TTG p.L20L ASTN1_uc001glb.1_Silent_p.L20L|ASTN1_uc001gld.1_Silent_p.L20L|ASTN1_uc009wwx.1_Silent_p.L20L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 20 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GCCGTGGCCAGCACCGCCGCC 0.672 NA 5 19 0 0 0.014758 0 0 C1orf220 400798 broad.mit.edu 37 1 178514863 178514863 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:178514863G>A uc001glx.1 + 2 606 c.249G>A c.(247-249)CAG>CAA p.Q83Q C1orf49_uc001glv.1_Intron NM_207467 NP_997350 hypothetical protein LOC400798 0 AGCTTCTGCAGTTGGGAAGAC 0.532 NA 15 67 0 0 0.020292 0 0 CEP350 9857 broad.mit.edu 37 1 180003104 180003104 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:180003104C>G uc001gnt.2 + 16 4216 c.3833C>G c.(3832-3834)TCT>TGT p.S1278C CEP350_uc009wxl.2_Missense_Mutation_p.S1277C|CEP350_uc001gnu.2_Missense_Mutation_p.S1111C NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1278 Ser-rich. centrosome|nucleus|spindle ovary(4) 4 TCAGAAAGATCTAAGTCGTCA 0.453 NA 5 62 0 0 0.014758 0 0 CACNA1S 779 broad.mit.edu 37 1 201047120 201047120 + Silent SNP G G A rs141808465 byFrequency TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:201047120G>A uc001gvv.2 - 11 1733 c.1506C>T c.(1504-1506)TTC>TTT p.F502F NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 502 Helical; Name=S3 of repeat II; (Potential).|II. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TACACACCACGAAGCAGTCGA 0.592 NA 15 87 0 0 0.014323 0 0 LPGAT1 9926 broad.mit.edu 37 1 211966499 211966499 + Nonsense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:211966499G>C uc001hiu.2 - 3 1085 c.272C>G c.(271-273)TCA>TGA p.S91* LPGAT1_uc001hiv.2_Nonsense_Mutation_p.S91* NM_014873 NP_055688 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 91 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) TTCATCTTTTGAAACTGCTTT 0.373 NA 5 220 0 0 0.014758 0 0 C1orf150 148823 broad.mit.edu 37 1 247719752 247719752 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:247719752G>T uc001idf.2 + 2 118 c.73G>T c.(73-75)GAT>TAT p.D25Y C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron NM_145278 NP_660321 Q5JQS6 CA150_HUMAN hypothetical protein LOC148823 25 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;0.0241) AGGAAACCCAGATGAGGAAAG 0.358 NA 7 21 8.12818e-05 8.56207e-05 0.001984 1 0 OR2M5 127059 broad.mit.edu 37 1 248309181 248309181 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:248309181C>A uc010pze.1 + 1 732 c.732C>A c.(730-732)CAC>CAA p.H244Q NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 244 Helical; Name=6; (Potential). H -> N (found in a renal cell carcinoma sample; somatic mutation). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H244N(1) ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GTTCCTCTCACCTCATGGTGG 0.488 NA 64 197 1.74971e-23 2.26164e-23 0.01441 1 0 DIP2C 22982 broad.mit.edu 37 10 387205 387205 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr10:387205G>C uc001ifp.2 - 29 3608 c.3518C>G c.(3517-3519)TCT>TGT p.S1173C DIP2C_uc009xhi.1_Missense_Mutation_p.S559C NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 1173 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CACTTCTCTAGAGGGGTAAAG 0.488 NA 4 72 0 0 0.009096 0 0 ZNF33A 7581 broad.mit.edu 37 10 38343844 38343844 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr10:38343844C>G uc001izh.2 + 5 967 c.789C>G c.(787-789)TTC>TTG p.F263L ZNF33A_uc001izg.2_Missense_Mutation_p.F264L|ZNF33A_uc010qev.1_Missense_Mutation_p.F270L|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 263 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 CCCTCTTGTTCCATCAGATAT 0.388 NA 16 54 0 0 0.003163 0 0 FRMPD2 143162 broad.mit.edu 37 10 49447710 49447710 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr10:49447710C>T uc001jgi.2 - 7 833 c.726G>A c.(724-726)CAG>CAA p.Q242Q FRMPD2_uc001jgh.2_Silent_p.Q211Q|FRMPD2_uc001jgj.2_Silent_p.Q220Q NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 242 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CTGGTGAGCTCTGGGTCTCCG 0.433 NA 3 29 0 0 0.009096 0 0 HK1 3098 broad.mit.edu 37 10 71136840 71136840 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr10:71136840C>T uc001jpl.3 + 8 1127 c.1026C>T c.(1024-1026)ATC>ATT p.I342I HK1_uc001jpg.3_Silent_p.I330I|HK1_uc001jph.3_Silent_p.I346I|HK1_uc001jpi.3_Silent_p.I346I|HK1_uc001jpj.3_Silent_p.I377I|HK1_uc001jpk.3_Silent_p.I341I|HK1_uc009xqd.2_Silent_p.I220I NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 342 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 TGTCAGCCATCGAAAAGTAGG 0.517 NA 15 69 0 0 0.003163 0 0 UNC5B 219699 broad.mit.edu 37 10 73045160 73045160 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr10:73045160C>T uc001jro.2 + 4 971 c.526C>T c.(526-528)CCG>TCG p.P176S UNC5B_uc001jrp.2_Missense_Mutation_p.P176S NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 176 Ig-like C2-type.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 GCAGTGCCGCCCGCCGGAGGG 0.657 NA OREG0020248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 14 0 0 0.004672 0 0 IDE 3416 broad.mit.edu 37 10 94297241 94297241 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr10:94297241G>A uc001kia.2 - 2 241 c.165C>T c.(163-165)ACC>ACT p.T55T NM_004969 NP_004960 P14735 IDE_HUMAN insulin-degrading enzyme isoform 1 precursor 55 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGGAGACTTGGTAATGTGAT 0.383 NA 17 68 0 0 0.00499 0 0 PDZD7 79955 broad.mit.edu 37 10 102778631 102778631 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr10:102778631G>A uc001kso.1 - 8 1487 c.1272C>T c.(1270-1272)CTC>CTT p.L424L PDZD7_uc001ksn.2_Silent_p.L424L NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 424 cilium|nucleus protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) GGGGTCGGCTGAGGGCCAGCA 0.692 NA OREG0020453 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 15 0 0 0.004672 0 0 CLRN3 119467 broad.mit.edu 37 10 129676535 129676535 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr10:129676535C>A uc001lka.1 - 3 722 c.559G>T c.(559-561)GTC>TTC p.V187F CLRN3_uc001ljz.1_Missense_Mutation_p.V119F NM_152311 NP_689524 Q8NCR9 CLRN3_HUMAN clarin 3 187 Helical; (Potential). integral to membrane skin(1) 1 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) AGAAGAATGACGAGCAGTATG 0.468 NA 36 74 4.65686e-17 5.91602e-17 0.017118 1 0 FRG2B 441581 broad.mit.edu 37 10 135440196 135440196 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr10:135440196G>C uc010qvg.1 - 1 104 c.51C>G c.(49-51)TGC>TGG p.C17W NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 17 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGTCAGTGGAGCACTGGATGG 0.502 NA 12 251 0 0 0.003163 0 0 OR52B4 143496 broad.mit.edu 37 11 4389047 4389047 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:4389047G>T uc010qye.1 - 1 479 c.479C>A c.(478-480)CCT>CAT p.P160H NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) AAATATGATAGGGAAAATTGT 0.368 NA 12 37 3.07112e-06 3.37937e-06 0.010729 1 0 OR52L1 338751 broad.mit.edu 37 11 6008152 6008152 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:6008152C>T uc001mcd.2 - 1 64 c.9G>A c.(7-9)TTG>TTA p.L3L NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAAAGAAACCAAAGTCATGA 0.433 Melanoma(121;653 1666 10547 22796 51255) NA 10 44 0 0 0.010729 0 0 SBF2 81846 broad.mit.edu 37 11 9850975 9850975 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:9850975C>A uc001mib.2 - 28 3859 c.3721G>T c.(3721-3723)GCT>TCT p.A1241S NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1241 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) ACAGAAACAGCATTCAGTAAG 0.373 NA 25 85 9.57634e-11 1.12039e-10 0.01892 1 0 INSC 387755 broad.mit.edu 37 11 15197396 15197396 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:15197396G>A uc001mly.2 + 3 353 c.307G>A c.(307-309)GAG>AAG p.E103K INSC_uc001mlz.2_Missense_Mutation_p.E56K|INSC_uc001mma.2_Missense_Mutation_p.E56K|INSC_uc010rcs.1_Missense_Mutation_p.E56K|INSC_uc001mmb.2_Missense_Mutation_p.E56K|INSC_uc001mmc.2_Missense_Mutation_p.E56K NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 103 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 CAGCCTGGAAGAGGATGCACA 0.612 NA 4 51 0 0 0.014758 0 0 NELL1 4745 broad.mit.edu 37 11 20949951 20949951 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:20949951C>A uc001mqe.2 + 9 1076 c.923C>A c.(922-924)TCC>TAC p.S308Y NELL1_uc001mqf.2_Missense_Mutation_p.S308Y|NELL1_uc009yid.2_Missense_Mutation_p.S336Y|NELL1_uc010rdo.1_Missense_Mutation_p.S251Y|NELL1_uc010rdp.1_Missense_Mutation_p.S68Y NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 308 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 CGAAGGATGTCCTGTCCCCCT 0.522 NA 18 64 6.94344e-10 7.99712e-10 0.006122 1 0 FNBP4 23360 broad.mit.edu 37 11 47788812 47788812 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:47788812C>T uc009ylv.2 - 1 182 c.29G>A c.(28-30)GGC>GAC p.G10D FNBP4_uc001ngj.2_5'Flank|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 10 ovary(1) 1 GGGCCTACGGCCGGGTACCGC 0.751 NA 5 6 0 0 0.014758 0 0 OR4C3 256144 broad.mit.edu 37 11 48347185 48347185 + Silent SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:48347185C>A uc010rhv.1 + 1 693 c.693C>A c.(691-693)ATC>ATA p.I231I NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTGGTTTAATCTGCCTGTTGA 0.502 NA 15 67 7.93312e-07 8.82783e-07 0.020292 1 0 TRIM48 79097 broad.mit.edu 37 11 55033101 55033101 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:55033101C>A uc010rid.1 + 3 571 c.485C>A c.(484-486)TCT>TAT p.S162Y NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 146 intracellular zinc ion binding 0 AAAATGCAGTCTTTATGGGAA 0.423 NA 3 27 6.4e-05 6.76571e-05 0.004672 1 0 OR4S2 219431 broad.mit.edu 37 11 55419086 55419086 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:55419086C>A uc001nhs.1 + 1 707 c.707C>A c.(706-708)TCC>TAC p.S236Y NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 236 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) AAAGCCCTCTCCACCTGTGGC 0.493 NA 34 93 2.80507e-11 3.33454e-11 0.012213 1 0 OR5F1 338674 broad.mit.edu 37 11 55761773 55761773 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:55761773G>T uc010riv.1 - 1 329 c.329C>A c.(328-330)ACC>AAC p.T110N NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) GATGCATTCGGTTGTCGCCAG 0.468 NA 39 67 2.37825e-27 3.11487e-27 0.010771 1 0 OR8K1 390157 broad.mit.edu 37 11 56113845 56113845 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:56113845G>C uc010rjg.1 + 1 331 c.331G>C c.(331-333)GAG>CAG p.E111Q NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) AGCATTCTTTGAGATTTTCAT 0.408 NA HNSCC(65;0.19) 15 165 0 0 0.00499 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798701 57798701 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:57798701G>T uc010rjz.1 + 1 277 c.277G>T c.(277-279)GGC>TGC p.G93C OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) GGTGGATGGTGGCAAGAATAT 0.478 NA 49 118 1.65492e-34 2.20656e-34 0.01441 1 0 ACTN3 89 broad.mit.edu 37 11 66322659 66322659 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:66322659G>A uc001oio.1 + 6 634 c.616G>A c.(616-618)GAC>AAC p.D206N ACTN3_uc010rpi.1_RNA NM_001104 NP_001095 Q08043 ACTN3_HUMAN actinin, alpha 3 206 Actin-binding.|CH 2. focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle 0 TGACCTCATCGACTACGCCAA 0.622 NA 21 44 0 0 0.012319 0 0 ODZ4 26011 broad.mit.edu 37 11 78381203 78381203 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:78381203G>A uc001ozl.3 - 32 6650 c.6187C>T c.(6187-6189)CTG>TTG p.L2063L ODZ4_uc001ozk.3_Silent_p.L288L|ODZ4_uc009yvb.1_Silent_p.L647L NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2063 YD 12.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CGGTCAATCAGGGGCCCAATC 0.547 NA 10 32 0 0 0.006214 0 0 BCO2 83875 broad.mit.edu 37 11 112085561 112085561 + Missense_Mutation SNP A A G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:112085561A>G uc001pnf.2 + 10 1526 c.1409A>G c.(1408-1410)TAT>TGT p.Y470C BCO2_uc001pne.1_Missense_Mutation_p.Y297C|BCO2_uc001png.2_Missense_Mutation_p.Y397C|BCO2_uc001pnh.2_Missense_Mutation_p.Y436C|BCO2_uc010rwt.1_Missense_Mutation_p.Y365C|BCO2_uc009yyn.2_Missense_Mutation_p.Y436C|BCO2_uc001pni.2_Missense_Mutation_p.Y436C NM_031938 NP_114144 Q9BYV7 BCDO2_HUMAN beta-carotene dioxygenase 2 isoform a 470 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CAGATCTACTATGATCGATTC 0.393 GBM(177;1916 2099 21049 29541 39946) NA 30 64 0 0 0.008361 0 0 PCSK7 9159 broad.mit.edu 37 11 117094859 117094859 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:117094859C>G uc001pqr.2 - 8 1190 c.989G>C c.(988-990)GGA>GCA p.G330A NM_004716 NP_004707 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 330 Catalytic.|Extracellular (Potential). peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GTGTTGGCCTCCGTTGCCACT 0.537 NA T IGH@ MLCLS 23 64 0 0 0.014323 0 0 PHLDB1 23187 broad.mit.edu 37 11 118516195 118516195 + Silent SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr11:118516195G>T uc001ptr.1 + 17 3596 c.3243G>T c.(3241-3243)TCG>TCT p.S1081S PHLDB1_uc001pts.2_Silent_p.S1081S|PHLDB1_uc001ptt.2_Silent_p.S1034S|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.S896S|PHLDB1_uc001ptw.1_Silent_p.S436S|PHLDB1_uc009zai.1_Silent_p.S117S|PHLDB1_uc001ptx.1_Silent_p.S117S|PHLDB1_uc010ryi.1_Silent_p.S224S NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 1081 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CGGGCCCCTCGGGCTTCCCCC 0.672 NA 23 98 2.89027e-11 3.42208e-11 0.014323 1 0 CACNA1C 775 broad.mit.edu 37 12 2705059 2705059 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:2705059C>A uc009zdu.1 + 20 2996 c.2683C>A c.(2683-2685)CGC>AGC p.R895S CACNA1C_uc009zdv.1_Missense_Mutation_p.R892S|CACNA1C_uc001qkb.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkc.2_Missense_Mutation_p.R895S|CACNA1C_uc001qke.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkf.2_Missense_Mutation_p.R895S|CACNA1C_uc001qjz.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkd.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkg.2_Missense_Mutation_p.R895S|CACNA1C_uc009zdw.1_Missense_Mutation_p.R895S|CACNA1C_uc001qkh.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkl.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkn.2_Missense_Mutation_p.R895S|CACNA1C_uc001qko.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkp.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkr.2_Missense_Mutation_p.R895S|CACNA1C_uc001qku.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkq.2_Missense_Mutation_p.R895S|CACNA1C_uc001qks.2_Missense_Mutation_p.R895S|CACNA1C_uc001qkt.2_Missense_Mutation_p.R895S|CACNA1C_uc001qka.1_Missense_Mutation_p.R430S|CACNA1C_uc001qki.1_Missense_Mutation_p.R631S|CACNA1C_uc001qkj.1_Missense_Mutation_p.R631S|CACNA1C_uc001qkk.1_Missense_Mutation_p.R631S|CACNA1C_uc001qkm.1_Missense_Mutation_p.R631S|CACNA1C_uc001qkw.2_Missense_Mutation_p.R184S NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 895 III.|Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCAGTGCCACCGCATTGTCAA 0.577 NA 27 69 3.28513e-13 4.01817e-13 0.021523 1 0 CHD4 1108 broad.mit.edu 37 12 6697099 6697099 + Missense_Mutation SNP T T C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:6697099T>C uc001qpo.2 - 24 3646 c.3482A>G c.(3481-3483)CAC>CGC p.H1161R CHD4_uc001qpn.2_Missense_Mutation_p.H1154R|CHD4_uc001qpp.2_Missense_Mutation_p.H1158R NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1161 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CCCAATCCGGTGAGCTCTGCT 0.448 Colon(32;586 792 4568 16848 45314) NA 22 55 0 0 0.014323 0 0 GRIN2B 2904 broad.mit.edu 37 12 13769541 13769541 + Silent SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:13769541G>T uc001rbt.2 - 5 1355 c.1176C>A c.(1174-1176)CCC>CCA p.P392P NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 392 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GACACATTCGGGGCCACACAT 0.502 NA 24 88 2.39556e-15 2.99193e-15 0.016522 1 0 ATF7IP 55729 broad.mit.edu 37 12 14577906 14577906 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:14577906G>A uc001rbw.2 + 2 1215 c.1057G>A c.(1057-1059)GAA>AAA p.E353K ATF7IP_uc010shs.1_Missense_Mutation_p.E353K|ATF7IP_uc001rbu.2_Missense_Mutation_p.E353K|ATF7IP_uc001rbv.1_Missense_Mutation_p.E353K|ATF7IP_uc001rbx.2_Missense_Mutation_p.E353K|ATF7IP_uc010sht.1_Missense_Mutation_p.E353K|ATF7IP_uc001rby.3_Missense_Mutation_p.E353K|ATF7IP_uc001rbz.1_Missense_Mutation_p.E353K|ATF7IP_uc001rca.2_Missense_Mutation_p.E353K|ATF7IP_uc001rcb.2_5'Flank NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 353 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 AGAAACTCTAGAAACAGATGA 0.333 NA 19 75 0 0 0.007413 0 0 Unknown 0 broad.mit.edu 37 12 31286090 31286090 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:31286090C>G uc010sjy.1 - 20 2695 c.2695G>C c.(2695-2697)GAA>CAA p.E899Q RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA CTTTCCTTTTCAATACCTTCA 0.378 NA 10 40 0 0 0.00499 0 0 DDX23 9416 broad.mit.edu 37 12 49233875 49233875 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:49233875C>A uc001rsm.2 - 4 426 c.335G>T c.(334-336)CGA>CTA p.R112L NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 112 Arg-rich. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 GTCTTTTCCTCGACCAGGAGA 0.438 NA 37 105 1.26612e-14 1.56154e-14 0.015359 1 0 MLL2 8085 broad.mit.edu 37 12 49433570 49433571 + Missense_Mutation DNP GA GA TT TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:49433570_49433571GA>TT uc001rta.3 - 31 7982_7983 c.7982_7983TC>AA c.(7981-7983)CTC>CAA p.L2661Q NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2661 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 GGGTACCTGGGAGTTCAGCTGT 0.579 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 7 32 0 0 0.004672 0 0 KRT1 3848 broad.mit.edu 37 12 53073746 53073746 + Silent SNP A A G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:53073746A>G uc001sau.1 - 1 446 c.387T>C c.(385-387)TTT>TTC p.F129F KRT1_uc001sav.1_Silent_p.F129F NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 129 Head.|Gly/Phe/Ser-rich. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 cacctccaccaaaaccaccac 0.189 NA 8 24 0 0 0.00308 0 0 PDE1B 5153 broad.mit.edu 37 12 54963037 54963037 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:54963037C>T uc001sgd.1 + 4 463 c.297C>T c.(295-297)GAC>GAT p.D99D PDE1B_uc010soz.1_5'UTR|PDE1B_uc010spa.1_Silent_p.D58D|PDE1B_uc001sgf.2_Intron|PDE1B_uc001sge.2_Silent_p.D79D|PDE1B_uc009znq.2_Intron NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 99 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 AGGTGCGGGACTGGCTGGCCT 0.642 NA 15 60 0 0 0.003163 0 0 MIP 4284 broad.mit.edu 37 12 56848280 56848280 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:56848280G>T uc001slh.2 - 1 150 c.118C>A c.(118-120)CAT>AAT p.H40N NM_012064 NP_036196 P30301 MIP_HUMAN major intrinsic protein of lens fiber 40 Helical; (By similarity). response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens skin(1) 1 TGCAGAACATGCAGGGGTCCA 0.572 NA 29 75 1.77063e-15 2.22079e-15 0.005443 1 0 LRP1 4035 broad.mit.edu 37 12 57569388 57569388 + Silent SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:57569388C>G uc001snd.2 + 23 4159 c.3693C>G c.(3691-3693)CTC>CTG p.L1231L NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1231 Extracellular (Potential).|EGF-like 6. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCAAGCATCTCAAATGCAGCC 0.607 NA OREG0021937 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 80 0 0 0.001984 0 0 CAND1 55832 broad.mit.edu 37 12 67703981 67703981 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:67703981G>C uc001stn.2 + 13 3682 c.3245G>C c.(3244-3246)AGA>ACA p.R1082T CAND1_uc001sto.2_Missense_Mutation_p.R592T NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 1082 HEAT 25. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) CTGGATATTAGAAAGGCAGCA 0.348 NA 4 100 0 0 0.014758 0 0 CCT2 10576 broad.mit.edu 37 12 69987387 69987387 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:69987387G>A uc001svb.1 + 10 1070 c.976G>A c.(976-978)GTC>ATC p.V326I CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.V326I|CCT2_uc010stl.1_Missense_Mutation_p.V279I NM_006431 NP_006422 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 326 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CCTAGCTCTTGTCACAGGTAT 0.373 NA 8 32 0 0 0.004482 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373772 86373772 + Silent SNP T T A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:86373772T>A uc001tai.3 - 8 1982 c.732A>T c.(730-732)CTA>CTT p.L244L MGAT4C_uc001tal.3_Silent_p.L244L|MGAT4C_uc001taj.3_Silent_p.L244L|MGAT4C_uc001tak.3_Silent_p.L244L|MGAT4C_uc010sum.1_Silent_p.L268L|MGAT4C_uc001tah.3_Silent_p.L244L NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 244 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 AAGTTCCTTCTAGGGATGCAA 0.353 NA 13 30 0 0 0.016723 0 0 LUM 4060 broad.mit.edu 37 12 91502497 91502497 + Missense_Mutation SNP T T A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:91502497T>A uc001tbm.2 - 2 649 c.260A>T c.(259-261)GAG>GTG p.E87V LUM_uc001tbn.2_Intron NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 87 LRR 1. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 AGTTACATTCTCAAAGGCCTT 0.378 NA 11 47 0 0 0.013537 0 0 POLR3B 55703 broad.mit.edu 37 12 106772115 106772115 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:106772115C>G uc001tlp.2 + 8 789 c.567C>G c.(565-567)ATC>ATG p.I189M POLR3B_uc001tlq.2_Missense_Mutation_p.I131M NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 189 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 AGAACAGGATCATCGTGGAGG 0.418 NA 14 114 0 0 0.016723 0 0 TMEM132C 92293 broad.mit.edu 37 12 128899644 128899644 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:128899644C>T uc001uhs.3 + 1 354 c.117C>T c.(115-117)TTC>TTT p.F39F NM_001136103 NP_001129575 Q8N3T6 T132C_HUMAN transmembrane protein 132C 151 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 AGGTTCTTTTCCACATCATGG 0.532 NA 7 9 0 0 0.004482 0 0 FZD10 11211 broad.mit.edu 37 12 130648151 130648151 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:130648151G>C uc001uii.2 + 1 1120 c.664G>C c.(664-666)GAG>CAG p.E222Q uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 222 Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CTGGAGCCGCGAGGACAAGCG 0.642 NA 18 60 0 0 0.006122 0 0 DOCK9 23348 broad.mit.edu 37 13 99508166 99508166 + Missense_Mutation SNP T T C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr13:99508166T>C uc001vnt.2 - 34 3875 c.3820A>G c.(3820-3822)AAT>GAT p.N1274D DOCK9_uc001vnw.2_Missense_Mutation_p.N1273D|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.N1274D|DOCK9_uc010tip.1_5'Flank|DOCK9_uc010tiq.1_Missense_Mutation_p.N252D|DOCK9_uc010afu.1_3'UTR NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1274 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCCAGGGAATTGCTCTTCTCA 0.393 NA 48 90 0 0 0.01441 0 0 MYO16 23026 broad.mit.edu 37 13 109365050 109365050 + Missense_Mutation SNP G G T rs111464054 byFrequency TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr13:109365050G>T uc001vqt.1 + 3 394 c.268G>T c.(268-270)GTC>TTC p.V90F MYO16_uc010agk.1_Missense_Mutation_p.V112F NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 90 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCACACCCTCGTCTCCTCGGG 0.577 NA 25 73 2.49675e-24 3.25567e-24 0.007291 1 0 MYO16 23026 broad.mit.edu 37 13 109550455 109550455 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr13:109550455G>A uc001vqt.1 + 15 1811 c.1685G>A c.(1684-1686)TGT>TAT p.C562Y MYO16_uc010agk.1_Missense_Mutation_p.C584Y|MYO16_uc001vqu.1_Missense_Mutation_p.C362Y|MYO16_uc010tjh.1_Missense_Mutation_p.C74Y NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 562 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTGCAGTTCTGTGAGAGGAAA 0.488 NA 13 41 0 0 0.013537 0 0 OR4N2 390429 broad.mit.edu 37 14 20295677 20295677 + Nonsense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:20295677C>T uc010tkv.1 + 1 70 c.70C>T c.(70-72)CAG>TAG p.Q24* NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCAAGATATTCAGCTCCTGGT 0.428 NA 6 237 0 0 0.001168 0 0 HAUS4 54930 broad.mit.edu 37 14 23421791 23421791 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:23421791C>T uc001whp.2 - 2 188 c.157G>A c.(157-159)GAG>AAG p.E53K HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Missense_Mutation_p.E53K|HAUS4_uc001whr.2_Missense_Mutation_p.E53K|HAUS4_uc001whs.2_Missense_Mutation_p.E53K|HAUS4_uc001wht.2_Missense_Mutation_p.E53K|HAUS4_uc001whu.2_Missense_Mutation_p.E53K|HAUS4_uc001whv.2_Intron|HAUS4_uc001whw.2_Missense_Mutation_p.E53K|HAUS4_uc001whx.2_Missense_Mutation_p.E53K NM_017815 NP_060285 Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 53 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle ovary(1) 1 AAGCCACTCTCATCCACATGC 0.483 NA 10 84 0 0 0.010729 0 0 MYH7 4625 broad.mit.edu 37 14 23894032 23894032 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:23894032C>G uc001wjx.2 - 22 2731 c.2625G>C c.(2623-2625)GAG>GAC p.E875D NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 875 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ACACCATCTTCTCCTCCAGCT 0.587 NA 12 85 0 0 0.013537 0 0 STRN3 29966 broad.mit.edu 37 14 31380333 31380333 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:31380333C>G uc001wqu.2 - 13 1850 c.1634G>C c.(1633-1635)GGA>GCA p.G545A STRN3_uc001wqv.2_Missense_Mutation_p.G461A|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 545 WD 2. negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) ACACTGTTCTCCATTAGAACT 0.373 NA 3 43 0 0 0.004672 0 0 MIA2 117153 broad.mit.edu 37 14 39722410 39722410 + Nonsense_Mutation SNP T T A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:39722410T>A uc001wux.2 + 6 2116 c.1922T>A c.(1921-1923)TTA>TAA p.L641* NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 Error:Variant_position_missing_in_Q96PC5_after_alignment extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GCAATAATTTTACCTATTTTG 0.289 NA 24 49 0 0 0.016522 0 0 LRFN5 145581 broad.mit.edu 37 14 42360955 42360955 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:42360955C>A uc001wvm.2 + 4 3086 c.1888C>A c.(1888-1890)CCT>ACT p.P630T LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 630 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTCTGCTTTGCCTCCTTCCTG 0.458 NA HNSCC(30;0.082) 15 40 2.31682e-05 2.48471e-05 0.003163 1 0 NIN 51199 broad.mit.edu 37 14 51223726 51223726 + Missense_Mutation SNP T T A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:51223726T>A uc001wym.2 - 18 4213 c.4022A>T c.(4021-4023)CAG>CTG p.Q1341L NIN_uc001wyi.2_Missense_Mutation_p.Q1341L|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.Q1347L|NIN_uc001wyo.2_Missense_Mutation_p.Q1341L NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1341 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) gtcacaccgctggaCCACGCT 0.204 NA T PDGFRB MPD 19 29 0 0 0.007413 0 0 SYNE2 23224 broad.mit.edu 37 14 64416616 64416616 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:64416616C>T uc001xgm.2 + 7 712 c.482C>T c.(481-483)TCA>TTA p.S161L SYNE2_uc001xgk.2_Missense_Mutation_p.S161L|SYNE2_uc001xgl.2_Missense_Mutation_p.S161L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 161 Cytoplasmic (Potential).|Actin-binding. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GTGGTTGACTCATCTCCTGCC 0.458 NA 54 188 0 0 0.01441 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68264845 68264845 + Missense_Mutation SNP T T A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:68264845T>A uc001xka.2 - 11 2273 c.2134A>T c.(2134-2136)AGT>TGT p.S712C ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S712C|ZFYVE26_uc010tta.1_Missense_Mutation_p.S712C NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 712 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CAGCTCTGACTTTCTTGCTTT 0.542 NA 22 62 0 0 0.014323 0 0 SEL1L 6400 broad.mit.edu 37 14 81964292 81964292 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:81964292C>T uc010tvv.1 - 10 1189 c.1072G>A c.(1072-1074)GAA>AAA p.E358K NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 358 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) ATCAAATCTTCTTCTAGCATT 0.403 NA 4 51 0 0 0.009096 0 0 PPP4R4 57718 broad.mit.edu 37 14 94697044 94697044 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:94697044C>G uc001ycs.1 + 4 569 c.415C>G c.(415-417)CTC>GTC p.L139V NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 139 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 CCAAGTCATTCTCCTGCATCT 0.418 NA 18 58 0 0 0.010504 0 0 BEGAIN 57596 broad.mit.edu 37 14 101005469 101005469 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:101005469G>T uc010txa.1 - 6 765 c.619C>A c.(619-621)CTG>ATG p.L207M BEGAIN_uc001yhp.2_Missense_Mutation_p.L143M|BEGAIN_uc001yhq.2_Missense_Mutation_p.L207M NM_001159531 NP_001153003 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 207 cytoplasm|membrane protein binding 0 Melanoma(154;0.212) CAGAAGGCCAGGTCGCGGGCG 0.692 NSCLC(159;1889 2010 9965 27479 40101) NA 4 18 1.23904e-05 1.35334e-05 0.014758 1 0 CDC42BPB 9578 broad.mit.edu 37 14 103442080 103442080 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr14:103442080C>T uc001ymi.1 - 11 1680 c.1448G>A c.(1447-1449)CGA>CAA p.R483Q NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 483 Potential. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TTCTTTATCTCGGTTTGAATT 0.473 NA 5 169 0 0 0.014758 0 0 Unknown 0 broad.mit.edu 37 15 22440499 22440499 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr15:22440499G>C uc001yug.2 - 1 367 c.348C>G c.(346-348)CAC>CAG p.H116Q full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human). NA GCGGCGCATAGTGGGACTCGT 0.473 NA 4 29 0 0 0.009096 0 0 UBE3A 7337 broad.mit.edu 37 15 25599717 25599717 + Missense_Mutation SNP T T G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr15:25599717T>G uc001zaq.2 - 8 2247 c.2247A>C c.(2245-2247)TTA>TTC p.L749F uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.L726F|UBE3A_uc001zas.2_Missense_Mutation_p.L746F|UBE3A_uc001zat.2_Missense_Mutation_p.L726F NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 749 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) CTGGTCTGAATAAGTACTTTA 0.348 NA 4 120 0 0 0.009096 0 0 GREM1 26585 broad.mit.edu 37 15 33022958 33022958 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr15:33022958G>A uc001zhe.1 + 2 226 c.67G>A c.(67-69)GAA>AAA p.E23K GREM1_uc001zhd.1_Intron|GREM1_uc010uby.1_Missense_Mutation_p.E23K NM_013372 NP_037504 O60565 GREM1_HUMAN gremlin-1 precursor 23 negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition extracellular space cytokine activity 0 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) GCCGGCTGCTGAAGGGAAAAA 0.607 NA 13 52 0 0 0.016723 0 0 SEMA6D 80031 broad.mit.edu 37 15 48060883 48060883 + Missense_Mutation SNP T T C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr15:48060883T>C uc010bek.2 + 18 2231 c.1871T>C c.(1870-1872)TTT>TCT p.F624S SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.F624S|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Intron|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 624 Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TCTCGGAAATTTGTAGTTCAA 0.438 NA 28 59 0 0 0.008361 0 0 TMC3 342125 broad.mit.edu 37 15 81627180 81627180 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr15:81627180C>G uc002bgo.1 - 21 2340 c.2340G>C c.(2338-2340)AAG>AAC p.K780N TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 780 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 TCCTGCCACTCTTGCTGCTCC 0.607 NA 4 101 0 0 0.014758 0 0 EFTUD1 79631 broad.mit.edu 37 15 82532884 82532884 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr15:82532884G>C uc002bgt.1 - 6 560 c.391C>G c.(391-393)CTG>GTG p.L131V EFTUD1_uc002bgu.1_Missense_Mutation_p.L80V NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 131 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 GCTTGTCGCAGAACTGCCTGT 0.368 NA 3 25 0 0 0.004672 0 0 NPRL3 8131 broad.mit.edu 37 16 139797 139797 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr16:139797C>G uc002cfr.2 - 12 1364 c.1265G>C c.(1264-1266)CGT>CCT p.R422P NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Missense_Mutation_p.R243P|NPRL3_uc010uub.1_Missense_Mutation_p.R397P|NPRL3_uc010uuc.1_Missense_Mutation_p.R344P|NPRL3_uc002cfs.1_Missense_Mutation_p.R397P NM_001077350 NP_001070818 Q12980 NPRL3_HUMAN conserved gene telomeric to alpha globin cluster 422 protein binding ovary(1) 1 CTCTCGCGGACGGGGCTCCTC 0.667 NA 3 14 0 0 0.004672 0 0 FAHD1 81889 broad.mit.edu 37 16 1877419 1877419 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr16:1877419G>A uc002cnc.1 + 1 195 c.189G>A c.(187-189)GCG>GCA p.A63A HAGH_uc002cmz.2_5'Flank|HAGH_uc002cna.2_5'Flank|HAGH_uc010uvp.1_5'Flank|HAGH_uc002cnb.1_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.2_Silent_p.A63A|FAHD1_uc010brz.2_Silent_p.A63A NM_031208 NP_112485 Q6P587 FAHD1_HUMAN fumarylacetoacetate hydrolase domain containing 63 mitochondrion hydrolase activity|metal ion binding|protein binding 0 TCATGCCCGCGTACACTCGCA 0.697 NA 4 78 0 0 0.014758 0 0 RABEP2 79874 broad.mit.edu 37 16 28917071 28917071 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr16:28917071C>A uc002drq.2 - 11 1493 c.1445G>T c.(1444-1446)TGC>TTC p.C482F uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.C411F|RABEP2_uc010byn.2_Missense_Mutation_p.C446F NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 482 Potential. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 CCTCAGGCTGCACAGGGAGGC 0.657 Pancreas(66;639 1284 10093 31061 49099) NA 37 57 1.66425e-11 1.98636e-11 0.021022 1 0 TBC1D10B 26000 broad.mit.edu 37 16 30376327 30376327 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr16:30376327C>T uc002dxu.2 - 4 1183 c.1165G>A c.(1165-1167)GAG>AAG p.E389K NM_015527 NP_056342 Q4KMP7 TB10B_HUMAN TBC1 domain family, member 10B 389 Rab-GAP TBC. cytoplasm Rab GTPase activator activity 0 Colorectal(24;0.193) CGTTCCAGCTCCTGCAGTGGG 0.607 NA 3 26 0 0 0.009096 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + Missense_Mutation SNP T T G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr16:32890622T>G uc002edh.1 - 5 440 c.264A>C c.(262-264)AAA>AAC p.K88N SLC6A10P_uc002edi.1_RNA RecName: Full=Transporter; 0 CGTTGGTGTTTTTGTAGACCA 0.512 NA 3 11 0 0 0.009096 0 0 ZNF423 23090 broad.mit.edu 37 16 49672436 49672436 + Silent SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr16:49672436G>C uc002efs.2 - 5 925 c.627C>G c.(625-627)CTC>CTG p.L209L ZNF423_uc010vgn.1_Silent_p.L92L NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 209 C2H2-type 4. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GGTGGATCTTGAGGTGGTCGC 0.607 NA 8 33 0 0 0.004482 0 0 CDH1 999 broad.mit.edu 37 16 68862085 68862085 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr16:68862085C>T uc002ewg.1 + 14 2297 c.2173C>T c.(2173-2175)CTG>TTG p.L725L CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.L664L NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 725 Helical; (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) AGTTCTGATTCTGCTGCTCTT 0.517 NA Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 9 92 0 0 0.004482 0 0 PRDM7 11105 broad.mit.edu 37 16 90141396 90141396 + Silent SNP G G T rs147971971 by1000genomes TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr16:90141396G>T uc010cje.2 - 3 249 c.229C>A c.(229-231)CGA>AGA p.R77R PRDM7_uc010cjf.2_Silent_p.R4R|PRDM7_uc010cjh.1_RNA NM_001098173 NP_001091643 Q9NQW5 PRDM7_HUMAN PR domain containing 7 isoform 1 77 KRAB-related. chromosome|nucleus nucleic acid binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) GCCTGCCTTCGGTGACACATG 0.488 NA 18 32 9.7654e-05 0.000102502 0.007413 1 0 ZZEF1 23140 broad.mit.edu 37 17 3935493 3935493 + Silent SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:3935493C>G uc002fxe.2 - 42 6883 c.6819G>C c.(6817-6819)GTG>GTC p.V2273V ZZEF1_uc002fxh.2_Silent_p.V587V|ZZEF1_uc002fxi.2_Silent_p.V508V NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2273 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCAAGATGATCACATTATGGG 0.418 NA 4 89 0 0 0.009096 0 0 ZNF232 7775 broad.mit.edu 37 17 5009283 5009283 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:5009283C>G uc002gas.2 - 5 1844 c.1090G>C c.(1090-1092)GAG>CAG p.E364Q ZNF232_uc002gar.1_Missense_Mutation_p.E382Q|ZNF232_uc002gat.2_Missense_Mutation_p.E391Q NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 364 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 TTCCCACACTCATTACACTCA 0.438 NA 24 54 0 0 0.016522 0 0 PIK3R6 146850 broad.mit.edu 37 17 8738629 8738629 + Silent SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:8738629C>A uc002glq.1 - 8 846 c.606G>T c.(604-606)GGG>GGT p.G202G PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 202 platelet activation cytosol 0 GACAGGCCTCCCCCAGAGCCG 0.672 NA 6 18 3.59834e-05 3.81759e-05 0.001168 1 0 MYH8 4626 broad.mit.edu 37 17 10307870 10307870 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:10307870C>A uc002gmm.2 - 22 2560 c.2465G>T c.(2464-2466)CGT>CTT p.R822L uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 822 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 CATGAAGGCACGGACATTATA 0.443 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 20 59 7.41877e-09 8.4786e-09 0.012319 1 0 MYH4 4622 broad.mit.edu 37 17 10355805 10355805 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:10355805G>T uc002gmn.2 - 26 3387 c.3276C>A c.(3274-3276)AGC>AGA p.S1092R uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1092 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CTTGCAGATTGCTCATTTCAA 0.338 NA 11 30 1.08611e-07 1.21316e-07 0.010729 1 0 MFAP4 4239 broad.mit.edu 37 17 19289684 19289684 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:19289684G>A uc002gvt.2 - 3 204 c.179C>T c.(178-180)TCG>TTG p.S60L MFAP4_uc002gvr.2_RNA|MFAP4_uc002gvs.2_Missense_Mutation_p.S84L NM_002404 NP_002395 P55083 MFAP4_HUMAN microfibrillar-associated protein 4 precursor 60 Fibrinogen C-terminal. cell adhesion|signal transduction microfibril receptor binding 0 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) ACTGGGGCCCGAGGGGTAGAT 0.478 NA 4 28 0 0 0.009096 0 0 FLJ40504 284085 broad.mit.edu 37 17 26604103 26604103 + Silent SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:26604103G>C uc002has.3 - 3 468 c.372C>G c.(370-372)CTC>CTG p.L124L NM_173624 NP_775895 SubName: Full=Putative uncharacterized protein FLJ40504; SubName: Full=cDNA FLJ40504 fis, clone TESTI2045509, highly similar to KERATIN, TYPE I CYTOSKELETAL 18; 0 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) GGTGGTCGTTGAGGCTTTGCA 0.607 NA 11 123 0 0 0.010729 0 0 RPL23A 6147 broad.mit.edu 37 17 27047846 27047846 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:27047846G>A uc002hci.2 + 2 171 c.147G>A c.(145-147)CCG>CCA p.P49P RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc002hcf.2_5'Flank|RAB34_uc010was.1_5'Flank|RAB34_uc010wat.1_5'Flank|RAB34_uc002hch.2_5'Flank|RAB34_uc010wau.1_5'Flank|RAB34_uc010wav.1_5'Flank|RPL23A_uc002hck.1_RNA|SNORD4A_uc002hcl.2_5'Flank|SNORD42A_uc002hcm.1_5'Flank|SNORD4B_uc002hcn.1_5'Flank NM_000984 NP_000975 P62750 RL23A_HUMAN ribosomal protein L23a 49 cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome ovary(1) 1 Lung NSC(42;0.00431) TCCGGCGGCCGAAGACACTGC 0.537 NA OREG0024282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 74 0 0 0.016723 0 0 SLC6A4 6532 broad.mit.edu 37 17 28539761 28539761 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:28539761C>T uc002hey.3 - 9 1745 c.1201G>A c.(1201-1203)GCA>ACA p.A401T SLC6A4_uc010csg.2_5'Flank NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 401 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GTCCTACCTGCGTCTTTGGCC 0.443 NA 4 70 0 0 0.014758 0 0 GAS2L2 246176 broad.mit.edu 37 17 34077157 34077157 + Missense_Mutation SNP T T G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:34077157T>G uc002hjv.1 - 2 594 c.566A>C c.(565-567)GAC>GCC p.D189A NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 189 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CGGCGAGGGGTCGGGCGGGGG 0.741 NA 6 54 0 0 0.008291 0 0 PSMD3 5709 broad.mit.edu 37 17 38140573 38140573 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:38140573G>A uc002htn.1 + 2 411 c.247G>A c.(247-249)GAG>AAG p.E83K PSMD3_uc010wen.1_Intron|PSMD3_uc010weo.1_Intron NM_002809 NP_002800 O43242 PSMD3_HUMAN proteasome 26S non-ATPase subunit 3 83 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding ovary(1)|pancreas(1) 2 Colorectal(19;0.000442) GAAACAGCTAGAGAAAGCGGT 0.522 Ovarian(186;531 2051 6385 19668 48409) NA 4 57 0 0 0.009096 0 0 KRT39 390792 broad.mit.edu 37 17 39116741 39116741 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:39116741C>G uc002hvo.1 - 6 1045 c.1009G>C c.(1009-1011)GAG>CAG p.E337Q KRT39_uc010wfm.1_Missense_Mutation_p.E70Q NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 337 Coil 2.|Rod. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) AGGATGCACTCTTGGGAATCT 0.473 NA 4 191 0 0 0.009096 0 0 TMEM100 55273 broad.mit.edu 37 17 53798254 53798254 + Missense_Mutation SNP A A G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:53798254A>G uc002iuj.3 - 2 489 c.178T>C c.(178-180)TTT>CTT p.F60L TMEM100_uc002iuk.3_Missense_Mutation_p.F60L NM_018286 NP_060756 Q9NV29 TM100_HUMAN transmembrane protein 100 60 Helical; (Potential). integral to membrane 0 ACCACAGCAAAGGGGATGATG 0.537 NA 30 104 0 0 0.007291 0 0 C17orf58 284018 broad.mit.edu 37 17 65988130 65988130 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:65988130G>T uc002jgi.3 - 3 508 c.193C>A c.(193-195)CCA>ACA p.P65T C17orf58_uc002jgj.3_3'UTR NM_181655 NP_858041 Q2M2W7 CQ058_HUMAN hypothetical protein LOC284018 isoform a 65 0 all_cancers(12;4.57e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) CCATCCCCTGGACGGAGGCGG 0.512 NA 32 78 5.60225e-13 6.82414e-13 0.009535 1 0 P4HB 5034 broad.mit.edu 37 17 79801962 79801962 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:79801962C>G uc002kbn.1 - 11 1650 c.1453G>C c.(1453-1455)GAG>CAG p.E485Q P4HB_uc002kbl.1_Missense_Mutation_p.E162Q|P4HB_uc002kbm.1_Missense_Mutation_p.E162Q NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 485 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) TCCAGGTCCTCGAGATCCTGG 0.602 Colon(49;444 983 1296 7887 42561) NA 6 298 0 0 0.001168 0 0 ZNF521 25925 broad.mit.edu 37 18 22806582 22806582 + Nonsense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr18:22806582C>A uc002kvk.2 - 4 1547 c.1300G>T c.(1300-1302)GAA>TAA p.E434* ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.E434*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.E214* NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 434 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGGGCCTGTTCTGGCTTATCT 0.413 NA T PAX5 ALL 17 49 1.5739e-10 1.82695e-10 0.004007 1 0 CDH2 1000 broad.mit.edu 37 18 25543371 25543371 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr18:25543371C>A uc002kwg.2 - 15 2923 c.2464G>T c.(2464-2466)GTC>TTC p.V822F CDH2_uc010xbn.1_Missense_Mutation_p.V791F NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 822 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GCAGATCGGACCGGATACTGG 0.522 NA 7 50 0.000157383 0.000164033 0.00308 1 0 DSG1 1828 broad.mit.edu 37 18 28916510 28916510 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr18:28916510C>T uc002kwp.2 + 9 1411 c.1199C>T c.(1198-1200)TCA>TTA p.S400L NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 400 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AATATGGGATCAAATGATAAA 0.388 NA 8 41 0 0 0.004482 0 0 SYT4 6860 broad.mit.edu 37 18 40854133 40854133 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr18:40854133C>T uc002law.2 - 2 630 c.261G>A c.(259-261)GTG>GTA p.V87V SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Silent_p.V69V|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 87 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 AATTCTTTGGCACAGCTGGCT 0.388 NSCLC(85;81 1419 2855 22820 35912) NA 16 48 0 0 0.003163 0 0 BCL2 596 broad.mit.edu 37 18 60795972 60795972 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr18:60795972G>A uc002lit.1 - 3 1099 c.606C>T c.(604-606)TAC>TAT p.Y202Y BCL2_uc002liu.1_Silent_p.Y202Y NM_000633 NP_000624 P10415 BCL2_HUMAN B-cell lymphoma protein 2 alpha isoform 202 BH2. activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding central_nervous_system(1) 1 all_hematologic(56;1.18e-20)|Prostate(75;0.0872) Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935) Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367) TGCTGGGGCCGTACAGTTCCA 0.542 NA T IGH@ NHL|CLL 12 21 0 0 0.010729 0 0 ZNF236 7776 broad.mit.edu 37 18 74639027 74639027 + Silent SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr18:74639027G>T uc002lmi.2 + 23 4254 c.4056G>T c.(4054-4056)GGG>GGT p.G1352G ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1352 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TGACAGATGGGAGCCTGGCTA 0.438 NA 24 63 9.95505e-16 1.25927e-15 0.014323 1 0 TJP3 27134 broad.mit.edu 37 19 3730104 3730104 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:3730104G>C uc010xhv.1 + 3 294 c.294G>C c.(292-294)AAG>AAC p.K98N TJP3_uc010xhs.1_Missense_Mutation_p.K79N|TJP3_uc010xht.1_Missense_Mutation_p.K43N|TJP3_uc010xhu.1_Missense_Mutation_p.K88N|TJP3_uc010xhw.1_Missense_Mutation_p.K98N NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 79 PDZ 1. tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) AGATACTCAAGACCTGCACCA 0.547 NA 17 64 0 0 0.00499 0 0 MUC16 94025 broad.mit.edu 37 19 9020110 9020110 + Missense_Mutation SNP T T C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:9020110T>C uc002mkp.2 - 21 37589 c.37385A>G c.(37384-37386)CAT>CGT p.H12462R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12464 Extracellular (Potential).|SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCAAGATGATGGATGCAGAT 0.537 NA 54 151 0 0 0.01441 0 0 MUC16 94025 broad.mit.edu 37 19 9061355 9061355 + Silent SNP A A T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:9061355A>T uc002mkp.2 - 3 26295 c.26091T>A c.(26089-26091)ACT>ACA p.T8697T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8699 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGTCATCATAGTTTCTGGGA 0.483 NA 19 54 0 0 0.014323 0 0 MUC16 94025 broad.mit.edu 37 19 9069180 9069180 + Nonsense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:9069180G>C uc002mkp.2 - 3 18470 c.18266C>G c.(18265-18267)TCA>TGA p.S6089* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6091 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTCTGTAGTTGAGTTCATCAC 0.488 NA 5 67 0 0 0.014758 0 0 CACNA1A 773 broad.mit.edu 37 19 13423508 13423508 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:13423508G>A uc010dze.2 - 12 1882 c.1646C>T c.(1645-1647)TCT>TTT p.S549F CACNA1A_uc010dzc.2_Missense_Mutation_p.S74F|CACNA1A_uc002mwy.3_Missense_Mutation_p.S548F|CACNA1A_uc010xne.1_Missense_Mutation_p.S74F NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 549 Cytoplasmic (Potential).|II. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GTTGAAGGAAGAGTGGAAGTA 0.428 NA 4 57 0 0 0.009096 0 0 AKAP8L 26993 broad.mit.edu 37 19 15510160 15510160 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:15510160C>G uc002naw.1 - 9 1209 c.1110G>C c.(1108-1110)AAG>AAC p.K370N AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.K309N NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 370 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding ovary(1) 1 TGTCCTGACTCTTCTTGCCTG 0.602 NA 5 80 0 0 0.014758 0 0 TMEM38A 79041 broad.mit.edu 37 19 16798999 16798999 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:16798999C>T uc002nes.2 + 6 808 c.717C>T c.(715-717)GCC>GCT p.A239A NM_024074 NP_076979 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 239 Cytoplasmic (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|ovary(1) 3 CCTTTGATGCCCTGGAGGGCT 0.622 NA 83 312 0 0 0.01441 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770648 31770648 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:31770648G>A uc002nsy.3 - 2 116 c.51C>T c.(49-51)TCC>TCT p.S17S NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 17 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TTAACTCTTCGGAAACATAGG 0.378 NA 17 45 0 0 0.006122 0 0 CCDC123 84902 broad.mit.edu 37 19 33370214 33370214 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:33370214G>A uc002nty.2 - 19 2295 c.2206C>T c.(2206-2208)CTC>TTC p.L736F CCDC123_uc002ntx.2_Missense_Mutation_p.L489F|CCDC123_uc010edg.2_RNA NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 736 centrosome|spindle pole 0 Esophageal squamous(110;0.137) GTGTCCTGGAGAAGTTCTCGG 0.512 NA 19 165 0 0 0.007413 0 0 ZFP30 22835 broad.mit.edu 37 19 38134173 38134173 + Nonsense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:38134173C>T uc002ogv.1 - 5 744 c.228G>A c.(226-228)TGG>TGA p.W76* ZFP30_uc002ogw.1_Nonsense_Mutation_p.W76*|ZFP30_uc002ogx.1_Nonsense_Mutation_p.W76*|ZFP30_uc010xtt.1_Nonsense_Mutation_p.W75* NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TACCTAGAGTCCATCTTCTTT 0.468 NA 31 181 0 0 0.015359 0 0 RYR1 6261 broad.mit.edu 37 19 38939051 38939051 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:38939051C>A uc002oit.2 + 10 987 c.857C>A c.(856-858)ACC>AAC p.T286N RYR1_uc002oiu.2_Missense_Mutation_p.T286N NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 286 MIR 4.|Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CATGTCACTACCGGGCAGTAC 0.647 NA 44 109 1.8453e-21 2.36454e-21 0.010771 1 0 CEACAM5 1048 broad.mit.edu 37 19 42222239 42222239 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:42222239G>T uc002ork.2 + 6 1551 c.1430G>T c.(1429-1431)TGC>TTC p.C477F CEACAM5_uc002orj.1_Missense_Mutation_p.C476F|CEACAM5_uc002orl.2_Missense_Mutation_p.C477F NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 477 Ig-like 5. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CTCTATACCTGCCAGGCCAAT 0.488 NA 16 67 1.52009e-12 1.84405e-12 0.003163 1 0 ZNF234 10780 broad.mit.edu 37 19 44660836 44660836 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:44660836C>G uc002oym.2 + 6 974 c.667C>G c.(667-669)CAG>GAG p.Q223E ZNF234_uc002oyl.3_Missense_Mutation_p.Q223E NM_006630 NP_006621 Q14588 ZN234_HUMAN zinc finger protein 234 223 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) TCAAACTCATCAGAGAGTCCA 0.418 NA 5 178 0 0 0.014758 0 0 CD3EAP 10849 broad.mit.edu 37 19 45911398 45911398 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:45911398G>A uc002pbq.1 + 3 660 c.172G>A c.(172-174)GGG>AGG p.G58R PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.G60R NM_012099 NP_036231 O15446 RPA34_HUMAN CD3E antigen, epsilon polypeptide associated 58 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity large_intestine(2)|ovary(2) 4 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TAGCTTCAATGGGCGGCATGT 0.468 NA 38 99 0 0 0.021022 0 0 FCGRT 2217 broad.mit.edu 37 19 50027842 50027842 + Missense_Mutation SNP A A G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:50027842A>G uc002poe.2 + 5 1166 c.680A>G c.(679-681)TAC>TGC p.Y227C FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Missense_Mutation_p.Y227C|FCGRT_uc002pof.1_Missense_Mutation_p.Y132C|FCGRT_uc010yax.1_3'UTR|FCGRT_uc002poh.1_Missense_Mutation_p.Y87C|FCGRT_uc002poi.2_5'Flank NM_001136019 NP_001129491 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 227 Extracellular (Potential).|Alpha-3. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity ovary(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) TTCTCCTTCTACCCTCCGGAG 0.652 NA 16 57 0 0 0.003163 0 0 KLK8 11202 broad.mit.edu 37 19 51499449 51499449 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:51499449C>A uc002pur.1 - 6 828 c.649G>T c.(649-651)GTG>TTG p.V217L KLK8_uc002puq.1_Missense_Mutation_p.V262L|KLK8_uc002pus.1_Missense_Mutation_p.V76L|KLK8_uc002put.1_Missense_Mutation_p.G31V|KLK8_uc002puu.1_Missense_Mutation_p.V217L|KLK9_uc002puv.1_RNA NM_007196 NP_009127 O60259 KLK8_HUMAN kallikrein 8 isoform 1 preproprotein 217 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) CCATCACACACCAGGGGGCCT 0.572 NA 32 82 1.08312e-15 1.36427e-15 0.009535 1 0 ZNF525 170958 broad.mit.edu 37 19 53884844 53884844 + Nonsense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:53884844C>T uc010eqn.2 + 4 1097 c.904C>T c.(904-906)CAG>TAG p.Q302* ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.1_Intron NR_003699 Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695. 0 GACCTTTAGTCAGAAGTCATA 0.393 NA 4 58 0 0 0.009096 0 0 GP6 51206 broad.mit.edu 37 19 55526339 55526339 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:55526339C>A uc002qik.2 - 8 998 c.970G>T c.(970-972)GGT>TGT p.G324C GP6_uc002qil.2_Missense_Mutation_p.G325V|GP6_uc010esq.2_Missense_Mutation_p.G306C NM_016363 NP_057447 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) isoform 2 324 Cytoplasmic (Potential). enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) CCATCCTGACCCCCGTTTGAT 0.667 NA 9 16 0.000673444 0.000696991 0.008291 1 0 ZIK1 284307 broad.mit.edu 37 19 58101402 58101402 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:58101402G>A uc002qpg.2 + 4 320 c.223G>A c.(223-225)GAA>AAA p.E75K ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.E20K|ZIK1_uc002qpi.2_Missense_Mutation_p.E62K|ZIK1_uc002qpj.2_5'UTR NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AACAGAGGATGAAGAGACACC 0.463 NA 7 37 0 0 0.001984 0 0 NT5C1B 93034 broad.mit.edu 37 2 18764221 18764221 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:18764221C>G uc002rcz.2 - 7 1218 c.1114G>C c.(1114-1116)GAT>CAT p.D372H NT5C1B_uc002rcy.2_Missense_Mutation_p.D372H|NT5C1B_uc010exr.2_Missense_Mutation_p.D314H|NT5C1B_uc010yju.1_Missense_Mutation_p.D312H|NT5C1B_uc002rda.2_Missense_Mutation_p.D312H|NT5C1B_uc010yjv.1_Missense_Mutation_p.D389H|NT5C1B_uc010yjw.1_Missense_Mutation_p.D355H|NT5C1B_uc010exs.2_Missense_Mutation_p.D374H NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 372 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TCCTGTTCATCAGGATATAGA 0.438 NA 16 55 0 0 0.00499 0 0 PUM2 23369 broad.mit.edu 37 2 20455932 20455932 + Splice_Site SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:20455932C>T uc002rds.1 - 16 2508 c.2485_splice c.e16-1 p.S829_splice PUM2_uc002rdq.1_Splice_Site_p.S208_splice|PUM2_uc002rdt.1_Splice_Site_p.S829_splice|PUM2_uc002rdr.2_Splice_Site_p.S689_splice|PUM2_uc010yjy.1_Splice_Site_p.S750_splice|PUM2_uc002rdu.1_Splice_Site_p.S829_splice|PUM2_uc010yjz.1_Splice_Site_p.S768_splice NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATTTCACTCTGCAAAAGAC 0.313 NA 13 52 0 0 0.020292 0 0 MRPL33 9553 broad.mit.edu 37 2 27997375 27997375 + Silent SNP T T A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:27997375T>A uc002rlm.1 + 3 187 c.126T>A c.(124-126)ACT>ACA p.T42T MRPL33_uc002rln.1_Intron NM_004891 NP_004882 O75394 RM33_HUMAN mitochondrial ribosomal protein L33 isoform a 42 translation mitochondrion|ribosome structural constituent of ribosome 0 Acute lymphoblastic leukemia(172;0.155) AAAAACTGACTCTTTTGCATT 0.458 NA 19 72 0 0 0.008871 0 0 CRIM1 51232 broad.mit.edu 37 2 36691736 36691736 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:36691736G>A uc002rpd.2 + 5 968 c.929G>A c.(928-930)CGC>CAC p.R310H NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 310 Extracellular (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) TCCACTCCCCGCATAGTCTCT 0.483 NA 32 128 0 0 0.009535 0 0 DHX57 90957 broad.mit.edu 37 2 39029995 39029995 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:39029995G>A uc002rrf.2 - 23 3978 c.3879C>T c.(3877-3879)TTC>TTT p.F1293F DHX57_uc002rrd.3_Silent_p.F632F|DHX57_uc002rre.2_Silent_p.F726F NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 1293 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) AGTCTCGGATGAATACTCGAC 0.483 Melanoma(191;1090 2095 4375 23729 47341) NA 5 151 0 0 0.014758 0 0 SOS1 6654 broad.mit.edu 37 2 39281778 39281778 + Missense_Mutation SNP T T A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:39281778T>A uc002rrk.3 - 5 738 c.697A>T c.(697-699)AAT>TAT p.N233Y SOS1_uc010ynr.1_RNA|SOS1_uc002rrl.2_5'Flank NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 233 DH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.N233Y(1) ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) AATTTTGAATTGGAGACAAAG 0.299 NA Noonan_syndrome 17 21 0 0 0.004007 0 0 PREPL 9581 broad.mit.edu 37 2 44553939 44553939 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:44553939G>T uc002ruf.2 - 10 1693 c.1658C>A c.(1657-1659)ACA>AAA p.T553K PREPL_uc002rug.2_Missense_Mutation_p.T487K|PREPL_uc002ruh.2_Missense_Mutation_p.T491K|PREPL_uc010fax.2_Missense_Mutation_p.T553K|PREPL_uc002rui.3_Missense_Mutation_p.T464K|PREPL_uc002ruj.1_Missense_Mutation_p.T464K|PREPL_uc002ruk.1_Missense_Mutation_p.T553K NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 553 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGTCAGGGTTGTTAGACTTGG 0.502 NA 29 54 9.39395e-14 1.15378e-13 0.00632 1 0 PRKCE 5581 broad.mit.edu 37 2 46237565 46237565 + Missense_Mutation SNP A A T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:46237565A>T uc002rut.2 + 10 1543 c.1346A>T c.(1345-1347)GAC>GTC p.D449V NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 449 Protein kinase. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) CAGGATGATGACGTGGACTGC 0.468 NA 18 62 0 0 0.007413 0 0 GPR75 10936 broad.mit.edu 37 2 54080406 54080407 + Missense_Mutation DNP GC GC AA TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:54080406_54080407GC>AA uc002rxo.3 - 2 1758_1759 c.1487_1488GC>TT c.(1486-1488)AGC>ATT p.S496I ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 496 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGTTACATGGGCTGCTCTCCTC 0.46 NA 51 158 0 0 0.004672 0 0 CTNNA2 1496 broad.mit.edu 37 2 80620354 80620354 + Nonsense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:80620354G>T uc010ysh.1 + 7 1080 c.1075G>T c.(1075-1077)GGA>TGA p.G359* CTNNA2_uc010yse.1_Nonsense_Mutation_p.G359*|CTNNA2_uc010ysf.1_Nonsense_Mutation_p.G359*|CTNNA2_uc010ysg.1_Nonsense_Mutation_p.G359*|CTNNA2_uc010ysi.1_Translation_Start_Site NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 359 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GAAAGAAAAAGGAGATCCTCT 0.279 NA 17 58 3.51602e-12 4.23065e-12 0.008871 1 0 UGGT1 56886 broad.mit.edu 37 2 128938565 128938565 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:128938565C>T uc002tps.2 + 36 4180 c.4002C>T c.(4000-4002)ATC>ATT p.I1334I UGGT1_uc002tpr.2_Silent_p.I1310I NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 1334 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 AACAGCGTATCATCTGGGGTT 0.428 NA 4 88 0 0 0.009096 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540014 133540014 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:133540014G>T uc002ttp.2 - 14 4744 c.4370C>A c.(4369-4371)ACC>AAC p.T1457N NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1457 protein binding 0 ATCAGTCGCGGTTGCAGAGGC 0.512 NA 16 51 2.31682e-05 2.48471e-05 0.003163 1 0 ARL6IP6 151188 broad.mit.edu 37 2 153575479 153575479 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:153575479C>T uc002tyn.2 + 1 1057 c.341C>T c.(340-342)TCG>TTG p.S114L ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank NM_152522 NP_689735 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting 114 Helical; (Potential). integral to membrane 0 ATTCTCTGCTCGCTGCTCTTC 0.587 NA 22 56 0 0 0.014323 0 0 PPIG 9360 broad.mit.edu 37 2 170471176 170471176 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:170471176C>T uc002uez.2 + 9 709 c.489C>T c.(487-489)AGC>AGT p.S163S PPIG_uc010fpx.2_Silent_p.S148S|PPIG_uc010fpy.2_Silent_p.S159S|PPIG_uc002ufa.2_Silent_p.S163S|PPIG_uc002ufb.2_Silent_p.S163S|PPIG_uc002ufc.1_Silent_p.S163S|PPIG_uc002ufd.2_Silent_p.S163S NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 163 PPIase cyclophilin-type. protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) ATGCAGCTAGCAAACCGTTTG 0.378 NA 4 94 0 0 0.001168 0 0 DNAH7 56171 broad.mit.edu 37 2 196729356 196729356 + Silent SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:196729356C>A uc002utj.3 - 41 7124 c.7023G>T c.(7021-7023)GGG>GGT p.G2341G NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2341 ATP (Potential).|AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TCCCTCCAACCCCTACTAGGA 0.473 NA 20 49 2.94398e-08 3.33877e-08 0.007413 1 0 SMARCAL1 50485 broad.mit.edu 37 2 217347624 217347624 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:217347624C>T uc002vgc.3 + 18 3119 c.2789C>T c.(2788-2790)TCA>TTA p.S930L SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.S930L|SMARCAL1_uc010fvg.2_Missense_Mutation_p.S908L NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 930 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GATGAAAGCTCATTGACAGCC 0.448 NA Schimke_Immuno-Osseous_Dysplasia 6 157 0 0 0.001984 0 0 ATG9A 79065 broad.mit.edu 37 2 220090255 220090255 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:220090255G>A uc002vke.1 - 6 438 c.252C>T c.(250-252)GTC>GTT p.V84V ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.V84V NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 84 Helical; (Potential). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCACGCAGCTGACCAGGAAGG 0.537 NA 20 57 0 0 0.008871 0 0 C2orf85 285093 broad.mit.edu 37 2 242814574 242814574 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr2:242814574C>T uc010fzu.1 + 2 890 c.867C>T c.(865-867)CTC>CTT p.L289L NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 289 integral to membrane ovary(1) 1 AGGGCTTCCTCTTCAAAGGCC 0.677 NA 13 99 0 0 0.013537 0 0 SLC4A11 83959 broad.mit.edu 37 20 3209242 3209242 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr20:3209242G>A uc002wig.2 - 17 2400 c.2352C>T c.(2350-2352)CTC>CTT p.L784L SLC4A11_uc010zqe.1_Silent_p.L811L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.L768L NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 784 Helical; (Potential).|Membrane (bicarbonate transporter). L -> R (in Ref. 3; AAI10541). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 AGAGGCCATAGAGCACGGGCT 0.667 NSCLC(190;922 2139 10266 10292 38692) NA 4 88 0 0 0.009096 0 0 CDC25B 994 broad.mit.edu 37 20 3782967 3782967 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr20:3782967G>A uc002wjn.2 + 11 1916 c.1138G>A c.(1138-1140)GAG>AAG p.E380K CDC25B_uc010zqk.1_Missense_Mutation_p.E316K|CDC25B_uc010zql.1_Missense_Mutation_p.E302K|CDC25B_uc010zqm.1_Missense_Mutation_p.E289K|CDC25B_uc002wjl.2_Missense_Mutation_p.E268K|CDC25B_uc002wjm.2_Missense_Mutation_p.E268K|CDC25B_uc002wjo.2_Missense_Mutation_p.E366K|CDC25B_uc002wjp.2_Missense_Mutation_p.E339K|CDC25B_uc002wjq.2_Missense_Mutation_p.E180K|CDC25B_uc010gbc.2_5'Flank NM_021873 NP_068659 P30305 MPIP2_HUMAN cell division cycle 25B isoform 1 380 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|ovary(2) 5 GTGTCACGATGAGATCGAGAA 0.582 NA 4 92 0 0 0.014758 0 0 VSX1 30813 broad.mit.edu 37 20 25057043 25057043 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr20:25057043C>G uc002wuf.2 - 5 987 c.952G>C c.(952-954)GAG>CAG p.E318Q VSX1_uc002wue.2_Intron|VSX1_uc010gdd.1_Intron|VSX1_uc010gde.1_Intron|VSX1_uc010gdf.1_Intron NM_014588 NP_055403 Q9NZR4 VSX1_HUMAN visual system homeobox 1 isoform a 318 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AAGCCATTCTCAGGGCTCACT 0.542 NA 9 90 0 0 0.004482 0 0 MYH7B 57644 broad.mit.edu 37 20 33584527 33584527 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr20:33584527C>G uc002xbi.1 + 28 3450 c.3358C>G c.(3358-3360)CAA>GAA p.Q1120E NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1078 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) TGATGCTGCTCAAGACAAGCA 0.622 NA 3 42 0 0 0.009096 0 0 LBP 3929 broad.mit.edu 37 20 36997691 36997691 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr20:36997691C>G uc002xic.1 + 10 1069 c.1034C>G c.(1033-1035)TCT>TGT p.S345C NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 345 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) TCAGTGCCCTCTGCTCCGCTC 0.512 NA 49 126 0 0 0.01441 0 0 LPIN3 64900 broad.mit.edu 37 20 39977393 39977393 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr20:39977393G>A uc002xjx.2 + 4 514 c.423G>A c.(421-423)CGG>CGA p.R141R LPIN3_uc010ggh.2_Silent_p.R141R|LPIN3_uc010zwf.1_RNA NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN lipin 3 141 Nuclear localization signal (Potential). fatty acid metabolic process nucleus phosphatidate phosphatase activity ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(115;0.000739) CCACTGGGCGGAGGAAGAGGC 0.627 NA 4 29 0 0 0.009096 0 0 KCNQ2 3785 broad.mit.edu 37 20 62044851 62044851 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr20:62044851G>A uc002yey.1 - 15 1892 c.1715C>T c.(1714-1716)TCA>TTA p.S572L KCNQ2_uc002yez.1_Missense_Mutation_p.S541L|KCNQ2_uc002yfa.1_Missense_Mutation_p.S554L|KCNQ2_uc002yfb.1_Missense_Mutation_p.S544L NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 572 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GTGGCCGGCTGAGTACTGCTC 0.627 NA 4 79 0 0 0.014758 0 0 SON 6651 broad.mit.edu 37 21 34925451 34925451 + Missense_Mutation SNP T T C rs146846126 by1000genomes TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr21:34925451T>C uc002yse.1 + 3 3963 c.3914T>C c.(3913-3915)ATG>ACG p.M1305T SON_uc002ysb.1_Missense_Mutation_p.M1305T|SON_uc002ysc.2_Missense_Mutation_p.M1305T|SON_uc002ysd.2_Missense_Mutation_p.M296T|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.M296T NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 1305 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 CCTCCTGTTATGTCAGAGACA 0.463 NA 20 54 0 0 0.007413 0 0 PEX26 55670 broad.mit.edu 37 22 18566424 18566424 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr22:18566424C>T uc002znp.3 + 4 802 c.593C>T c.(592-594)GCC>GTC p.A198V TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Missense_Mutation_p.A198V|PEX26_uc002znt.2_Missense_Mutation_p.A198V NM_017929 NP_060399 Q7Z412 PEX26_HUMAN peroxisome biogenesis factor 26 198 Cytoplasmic (Potential). protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding skin(1) 1 GTACTTCAGGCCATTCACACA 0.597 NA 11 49 0 0 0.008291 0 0 PI4KA 5297 broad.mit.edu 37 22 21075604 21075604 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr22:21075604C>T uc002zsz.3 - 43 5155 c.4924G>A c.(4924-4926)GAG>AAG p.E1642K PI4KA_uc010gsp.2_Missense_Mutation_p.E35K|PI4KA_uc002zsy.3_Missense_Mutation_p.E452K NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1642 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TGGTGGCCCTCTTCATCTAGA 0.517 GBM(136;1332 1831 3115 23601 50806) NA 4 94 0 0 0.009096 0 0 NKTR 4820 broad.mit.edu 37 3 42679594 42679594 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr3:42679594G>A uc003clo.2 + 13 2545 c.2398G>A c.(2398-2400)GAG>AAG p.E800K NKTR_uc003clm.1_Missense_Mutation_p.E547K|NKTR_uc003clp.2_Missense_Mutation_p.E547K|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E690K|NKTR_uc003clr.1_Missense_Mutation_p.E547K|NKTR_uc003cls.2_Missense_Mutation_p.E500K NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 800 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) AAAGTATAGCGAGAGCAGATC 0.428 NA 4 84 0 0 0.009096 0 0 NDUFAF3 25915 broad.mit.edu 37 3 49060179 49060179 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr3:49060179C>T uc003cvq.2 + 3 819 c.315C>T c.(313-315)TTC>TTT p.F105F DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Silent_p.F48F|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Silent_p.F48F|NDUFAF3_uc003cvr.2_Silent_p.F48F|NDUFAF3_uc003cvs.2_Silent_p.F48F NM_199069 NP_951032 Q9BU61 NDUF3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 105 mitochondrial respiratory chain complex I assembly mitochondrial inner membrane|nucleus protein binding 0 TTTCCCTCTTCTGGTTGCTGG 0.582 NA 24 223 0 0 0.016522 0 0 CDHR4 389118 broad.mit.edu 37 3 49837234 49837234 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr3:49837234G>A uc010hkz.2 - 1 21 c.12C>T c.(10-12)CTC>CTT p.L4L CDHR4_uc003cxp.2_Silent_p.L4L|CDHR4_uc011bcw.1_Silent_p.L4L NM_001007540 NP_001007541 A6H8M9 CDHR4_HUMAN cadherin-like 29 precursor 4 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 CGAGGAGCCTGAGCAGCACCA 0.552 NA 3 59 0 0 0.009096 0 0 DOCK3 1795 broad.mit.edu 37 3 51418609 51418609 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr3:51418609C>T uc011bds.1 + 53 5735 c.5712C>T c.(5710-5712)TCC>TCT p.S1904S NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1904 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTGGGCACTCCTCGGAGGCCC 0.607 NA 27 91 0 0 0.021523 0 0 CD47 961 broad.mit.edu 37 3 107798948 107798948 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr3:107798948G>A uc003dwt.1 - 2 470 c.290C>T c.(289-291)TCT>TTT p.S97F CD47_uc003dwu.1_Missense_Mutation_p.S97F|CD47_uc003dwv.1_Missense_Mutation_p.S97F|CD47_uc003dww.1_Missense_Mutation_p.S97F NM_001777 NP_001768 Q08722 CD47_HUMAN CD47 antigen isoform 1 precursor 97 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to plasma membrane protein binding|thrombospondin receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118) CATCTTCAAAGAGGCATCTCC 0.393 NA 9 102 0 0 0.004482 0 0 DRD3 1814 broad.mit.edu 37 3 113850152 113850152 + Silent SNP T T A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr3:113850152T>A uc003ebd.2 - 7 1242 c.819A>T c.(817-819)GGA>GGT p.G273G DRD3_uc010hqn.1_Silent_p.G273G|DRD3_uc003ebb.1_Silent_p.G273G|DRD3_uc003ebc.1_Silent_p.G273G NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 273 Cytoplasmic. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TCAACTCTCCTCCTCTTTCTT 0.527 NA 40 135 0 0 0.006999 0 0 UBXN7 26043 broad.mit.edu 37 3 196094967 196094967 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr3:196094967C>G uc003fwm.3 - 8 841 c.766G>C c.(766-768)GGA>CGA p.G256R UBXN7_uc003fwn.3_Missense_Mutation_p.G108R|UBXN7_uc010iae.2_Missense_Mutation_p.G94R NM_015562 NP_056377 O94888 UBXN7_HUMAN UBX domain containing 7 256 protein binding ovary(2)|pancreas(1) 3 CCCAGAAATCCCGTCACTTGG 0.398 NA 15 69 0 0 0.020292 0 0 ACOX3 8310 broad.mit.edu 37 4 8398816 8398816 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr4:8398816C>A uc010idk.2 - 9 1049 c.904G>T c.(904-906)GGG>TGG p.G302W ACOX3_uc003glc.3_Missense_Mutation_p.G302W|ACOX3_uc003gld.3_Missense_Mutation_p.G302W|ACOX3_uc003gle.1_Missense_Mutation_p.G207W NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 302 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 GACAGGCTCCCCAGGGACGCT 0.647 NA 21 41 0.00152264 0.00157039 0.010504 1 0 TBC1D19 55296 broad.mit.edu 37 4 26741526 26741526 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr4:26741526G>A uc003gsf.3 + 17 1428 c.1158G>A c.(1156-1158)TTG>TTA p.L386L TBC1D19_uc010iew.2_Silent_p.L386L|TBC1D19_uc011bxu.1_Silent_p.L321L NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 386 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) CTTCCAAATTGTATCAGATAT 0.303 NA 23 67 0 0 0.01892 0 0 CWH43 80157 broad.mit.edu 37 4 48996650 48996650 + Missense_Mutation SNP A A G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr4:48996650A>G uc003gyv.2 + 5 708 c.526A>G c.(526-528)AAA>GAA p.K176E CWH43_uc011bzl.1_Missense_Mutation_p.K149E NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 176 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 TGACTGCAGTAAACCTGAAGA 0.423 NA 39 73 0 0 0.006999 0 0 LPHN3 23284 broad.mit.edu 37 4 62598706 62598706 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr4:62598706G>T uc010ihh.2 + 5 802 c.629G>T c.(628-630)GGA>GTA p.G210V LPHN3_uc003hcq.3_Missense_Mutation_p.G210V|LPHN3_uc010ihg.1_Missense_Mutation_p.G278V|LPHN3_uc003hcs.1_Missense_Mutation_p.G39V NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 210 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GATGGCACAGGATTTGTAGTG 0.448 NA 9 45 2.52707e-12 3.05311e-12 0.006214 1 0 TECRL 253017 broad.mit.edu 37 4 65165722 65165722 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr4:65165722C>A uc003hcv.2 - 8 853 c.744G>T c.(742-744)AGG>AGT p.R248S NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 248 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 CTGTGATTTGCCTGTTTCCAA 0.308 NA 37 76 9.62906e-15 1.19255e-14 0.00623 1 0 MEPE 56955 broad.mit.edu 37 4 88766956 88766956 + Silent SNP T T C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr4:88766956T>C uc003hqy.2 + 4 975 c.936T>C c.(934-936)AAT>AAC p.N312N MEPE_uc010ikn.2_Silent_p.N199N NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 312 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) GAGAAGAAAATGGTGGAAATA 0.443 NA 27 53 0 0 0.00632 0 0 BMPR1B 658 broad.mit.edu 37 4 96035971 96035971 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr4:96035971C>T uc003htm.3 + 5 518 c.244C>T c.(244-246)CGG>TGG p.R82W BMPR1B_uc010ilb.2_Missense_Mutation_p.R82W|BMPR1B_uc003htn.3_Missense_Mutation_p.R82W NM_001203 NP_001194 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 82 Extracellular (Potential). BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity lung(4)|skin(2)|stomach(1)|breast(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) TTTTCAGTGTCGGGTAAGGTA 0.423 NA 34 125 0 0 0.010818 0 0 INPP4B 8821 broad.mit.edu 37 4 143007365 143007365 + Nonsense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr4:143007365C>A uc003iix.3 - 25 3014 c.2419G>T c.(2419-2421)GAA>TAA p.E807* INPP4B_uc003iiw.3_Nonsense_Mutation_p.E807*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.E622*|INPP4B_uc011cho.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 807 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) AGGAGATTTTCTAGCAATGCT 0.328 NA 9 38 2.17888e-05 2.35382e-05 0.006214 1 0 GUCY1B3 2983 broad.mit.edu 37 4 156680962 156680962 + Silent SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr4:156680962G>T uc003ipc.2 + 2 194 c.27G>T c.(25-27)CTG>CTT p.L9L GUCY1B3_uc011cio.1_Silent_p.L9L|GUCY1B3_uc011cip.1_5'UTR|GUCY1B3_uc003ipd.2_Intron|GUCY1B3_uc010iqf.2_Silent_p.L9L|GUCY1B3_uc010iqg.2_5'UTR|GUCY1B3_uc011ciq.1_5'UTR NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 9 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) ATCACGCCCTGGAGTTGCTGG 0.637 NA 10 35 1.58986e-06 1.76255e-06 0.008291 1 0 NIPBL 25836 broad.mit.edu 37 5 37063937 37063937 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:37063937G>A uc003jkl.3 + 46 8405 c.7906G>A c.(7906-7908)GAA>AAA p.E2636K NIPBL_uc003jkk.3_Missense_Mutation_p.E2636K|NIPBL_uc003jkn.2_Missense_Mutation_p.E329K NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2636 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AGAAGAAGAAGAAGGGGAGGT 0.388 NA 11 27 0 0 0.010729 0 0 MIER3 166968 broad.mit.edu 37 5 56219601 56219601 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:56219601G>A uc003jrd.1 - 12 1137 c.1112C>T c.(1111-1113)TCA>TTA p.S371L MIER3_uc003jqz.1_Missense_Mutation_p.S308L|MIER3_uc003jra.1_Missense_Mutation_p.S370L|MIER3_uc003jrb.1_Missense_Mutation_p.S195L|MIER3_uc003jrc.1_Missense_Mutation_p.S376L NM_152622 NP_689835 Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) AGTTAAGGCTGAAGCATTTAC 0.408 NA 21 95 0 0 0.012319 0 0 FAM151B 167555 broad.mit.edu 37 5 79817926 79817926 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:79817926C>G uc003kgv.1 + 5 783 c.640C>G c.(640-642)CAG>GAG p.Q214E FAM151B_uc010jal.1_RNA NM_205548 NP_991111 Q6UXP7 F151B_HUMAN hypothetical protein LOC167555 214 0 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) GTCTTGTTCTCAGTTACTTTG 0.378 NA 3 58 0 0 0.004672 0 0 GPR98 84059 broad.mit.edu 37 5 90015943 90015943 + Nonsense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:90015943G>T uc003kju.2 + 44 9622 c.9526G>T c.(9526-9528)GGA>TGA p.G3176* GPR98_uc003kjt.2_Nonsense_Mutation_p.G882*|GPR98_uc003kjv.2_Nonsense_Mutation_p.G776* NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3176 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAATCCAACTGGAGGTGCTAG 0.408 NA 6 105 3.59834e-05 3.81759e-05 0.001168 1 0 GIN1 54826 broad.mit.edu 37 5 102432327 102432327 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:102432327C>T uc003koa.1 - 7 1294 c.1212G>A c.(1210-1212)CTG>CTA p.L404L GIN1_uc003kob.1_Silent_p.L257L|GIN1_uc003koc.1_Intron NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 404 DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) TGTTGTCTCTCAGGACAGCAC 0.413 NA 5 175 0 0 0.014758 0 0 MEGF10 84466 broad.mit.edu 37 5 126770413 126770413 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:126770413C>A uc003kuh.3 + 16 2237 c.1875C>A c.(1873-1875)AGC>AGA p.S625R MEGF10_uc003kui.3_Missense_Mutation_p.S625R NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 625 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ATCGCTGCAGCCAGACATGCC 0.567 NA 8 45 2.17888e-05 2.35382e-05 0.006214 1 0 SLC12A2 6558 broad.mit.edu 37 5 127503468 127503468 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:127503468C>T uc003kus.2 + 18 2796 c.2632C>T c.(2632-2634)CGT>TGT p.R878C SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.R878C|SLC12A2_uc003kut.1_Missense_Mutation_p.R85C NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 878 Extracellular (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGGTCTTGGTCGTATGAAGCC 0.333 NA 7 46 0 0 0.00308 0 0 FBN2 2201 broad.mit.edu 37 5 127595242 127595242 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:127595242C>T uc003kuu.2 - 65 9083 c.8644G>A c.(8644-8646)GAG>AAG p.E2882K NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2882 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTCTTAAGCTCCTTCTTCTTG 0.502 NA 5 125 0 0 0.001168 0 0 PCDH1 5097 broad.mit.edu 37 5 141248806 141248806 + Silent SNP G G A rs113157473 TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:141248806G>A uc003llq.2 - 2 348 c.231C>T c.(229-231)CTC>CTT p.L77L PCDH1_uc003llp.2_Silent_p.L77L|PCDH1_uc011dbf.1_Silent_p.L55L NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 77 Extracellular (Potential).|Cadherin 1. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding 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) AGTCGGCTGCGAGGCTCCCAA 0.597 Ovarian(132;1609 1739 4190 14731 45037) NA 6 24 0 0 0.001168 0 0 FAT2 2196 broad.mit.edu 37 5 150885619 150885619 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:150885619G>T uc003lue.3 - 23 12570 c.12557C>A c.(12556-12558)TCC>TAC p.S4186Y GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.S793Y NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 4186 Cytoplasmic (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCGTTCCTGGAGTAAGTAGG 0.607 NA 44 123 6.4771e-29 8.59741e-29 0.010771 1 0 ITK 3702 broad.mit.edu 37 5 156672899 156672899 + Missense_Mutation SNP T T A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:156672899T>A uc003lwo.1 + 15 1605 c.1523T>A c.(1522-1524)CTG>CAG p.L508Q NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 508 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGTTCGTTCTGGATGATCAG 0.537 Esophageal Squamous(70;1378 1469 8785 19883) NA T SYK peripheral T-cell lymphoma 33 62 0 0 0.009535 0 0 ODZ2 57451 broad.mit.edu 37 5 167673932 167673932 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:167673932C>T uc010jjd.2 + 27 5961 c.5961C>T c.(5959-5961)GTC>GTT p.V1987V ODZ2_uc003lzr.3_Silent_p.V1757V|ODZ2_uc003lzt.3_Silent_p.V1360V|ODZ2_uc010jje.2_Silent_p.V1251V NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ATGCTTCGGTCATCTTTGACT 0.537 NA 6 143 0 0 0.001168 0 0 WWC1 23286 broad.mit.edu 37 5 167855100 167855100 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:167855100G>A uc003lzu.2 + 12 1966 c.1873G>A c.(1873-1875)GAG>AAG p.E625K WWC1_uc003lzv.2_Missense_Mutation_p.E625K|WWC1_uc011den.1_Missense_Mutation_p.E625K|WWC1_uc003lzw.2_Missense_Mutation_p.E424K NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 625 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) CGTATCGGACGAGTCAGTGGC 0.577 NA 8 22 0 0 0.006214 0 0 TRIM41 90933 broad.mit.edu 37 5 180660418 180660418 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr5:180660418C>T uc003mne.1 + 4 1840 c.1146C>T c.(1144-1146)ATC>ATT p.I382I uc003mnb.1_5'Flank|TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Silent_p.I382I|TRIM41_uc003mnf.1_Intron|TRIM41_uc010jlq.1_3'UTR|TRIM41_uc003mng.1_5'UTR NM_033549 NP_291027 Q8WV44 TRI41_HUMAN tripartite motif-containing 41 isoform 1 382 cytoplasm|nucleus ligase activity|protein binding|zinc ion binding 0 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCAGGACATCAAGGAGACTT 0.433 NA 25 223 0 0 0.008361 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043780 26043780 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:26043780C>T uc003nfu.2 - 1 106 c.106G>A c.(106-108)GAG>AAG p.E36K HIST1H3C_uc003nfv.2_5'Flank NM_021062 NP_066406 P33778 H2B1B_HUMAN histone cluster 1, H2bb 36 nucleosome assembly nucleosome|nucleus DNA binding 0 GAATAGCTCTCCTTGCGGCTG 0.507 NA 49 183 0 0 0.01441 0 0 PGBD1 84547 broad.mit.edu 37 6 28268747 28268747 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:28268747G>C uc003nky.2 + 7 1486 c.1116G>C c.(1114-1116)GAG>GAC p.E372D PGBD1_uc003nkz.2_Missense_Mutation_p.E372D NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 372 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 ATGAGCCTGAGATCCAGCCTG 0.443 NA 10 77 0 0 0.006214 0 0 C6orf47 57827 broad.mit.edu 37 6 31627555 31627555 + Missense_Mutation SNP T T G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:31627555T>G uc003nvm.1 - 1 995 c.170A>C c.(169-171)AAG>ACG p.K57T NM_021184 NP_067007 O95873 CF047_HUMAN G4 protein 57 ovary(1) 1 GTCCTTAGTCTTGGGATGCCC 0.567 NA 9 46 0 0 0.008291 0 0 KIFC1 3833 broad.mit.edu 37 6 33373211 33373211 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:33373211G>C uc003oef.3 + 7 1789 c.1339G>C c.(1339-1341)GAG>CAG p.E447Q KIFC1_uc011drf.1_Missense_Mutation_p.E439Q NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 447 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 TGTGGCTCAGGAGCTGAGTGG 0.617 NA 5 49 0 0 0.014758 0 0 KIFC1 3833 broad.mit.edu 37 6 33374114 33374114 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:33374114C>T uc003oef.3 + 8 2128 c.1678C>T c.(1678-1680)CCC>TCC p.P560S KIFC1_uc011drf.1_Missense_Mutation_p.P552S NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 560 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 GTGTGGGGCCCCCCTCAGTCT 0.642 NA 64 187 0 0 0.01441 0 0 SNRPC 6631 broad.mit.edu 37 6 34741263 34741263 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:34741263G>T uc003ojt.1 + 6 411 c.396G>T c.(394-396)ATG>ATT p.M132I NM_003093 NP_003084 P09234 RU1C_HUMAN small nuclear ribonucleoprotein polypeptide C 132 spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding pancreas(1) 1 ATATGCCAATGATGCCTGGGC 0.557 NSCLC(131;576 1831 5287 11175 13324) NA 6 56 3.59834e-05 3.81759e-05 0.001168 1 0 FAM83B 222584 broad.mit.edu 37 6 54805720 54805720 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:54805720C>G uc003pck.2 + 5 2067 c.1951C>G c.(1951-1953)CTA>GTA p.L651V NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 651 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) GACAGAAAATCTAAAGAATCA 0.338 NA 9 54 0 0 0.006214 0 0 LACE1 246269 broad.mit.edu 37 6 108843517 108843517 + Silent SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:108843517C>G uc003psj.2 + 13 1521 c.1335C>G c.(1333-1335)CTC>CTG p.L445L NM_145315 NP_660358 Q8WV93 LACE1_HUMAN lactation elevated 1 445 ATP binding central_nervous_system(1) 1 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) CAGAAGGACTCTCCATGTTTA 0.358 NA 3 51 0 0 0.004672 0 0 ZBTB24 9841 broad.mit.edu 37 6 109787446 109787446 + Missense_Mutation SNP C C A rs144754453 byFrequency TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:109787446C>A uc003ptl.1 - 7 1870 c.1702G>T c.(1702-1704)GGT>TGT p.G568C MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.G512C|ZBTB24_uc010kdt.1_RNA NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 568 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) TGGCTAGGACCGGGCATGAAA 0.488 NA 29 67 4.59853e-10 5.31705e-10 0.005443 1 0 GPR6 2830 broad.mit.edu 37 6 110301347 110301347 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:110301347C>T uc011eaw.1 + 2 1212 c.1032C>T c.(1030-1032)CTC>CTT p.L344L GPR6_uc011eav.1_Silent_p.L359L|GPR6_uc003ptu.2_Silent_p.L344L NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 344 Cytoplasmic (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GGCTCCTGCTCTGTGGCTGTT 0.597 NA 37 139 0 0 0.005524 0 0 TAAR1 134864 broad.mit.edu 37 6 132966648 132966648 + Silent SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:132966648G>A uc003qdm.1 - 1 495 c.495C>T c.(493-495)TTC>TTT p.F165F NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 165 Extracellular (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) CAGCGCCTTTGAAGTTTAGCT 0.388 NA 7 52 0 0 0.001984 0 0 SYNE1 23345 broad.mit.edu 37 6 152668295 152668295 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:152668295G>T uc010kiw.2 - 73 12579 c.11977C>A c.(11977-11979)CAA>AAA p.Q3993K SYNE1_uc003qot.3_Missense_Mutation_p.Q3922K|SYNE1_uc003qou.3_Missense_Mutation_p.Q3993K|SYNE1_uc010kja.1_Missense_Mutation_p.Q698K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3993 Spectrin 10.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTGCACATTGGCCAATCAAA 0.448 NA HNSCC(10;0.0054) 12 29 3.07112e-06 3.37937e-06 0.010729 1 0 UNC93A 54346 broad.mit.edu 37 6 167728877 167728877 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:167728877C>G uc003qvq.2 + 8 1486 c.1311C>G c.(1309-1311)ATC>ATG p.I437M UNC93A_uc003qvr.2_Missense_Mutation_p.I395M NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 437 integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AGAACCCGATCAGACCCCACG 0.537 NA 46 217 0 0 0.013114 0 0 IL6 3569 broad.mit.edu 37 7 22766891 22766891 + Missense_Mutation SNP T T G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr7:22766891T>G uc011jyn.1 + 2 469 c.10T>G c.(10-12)TTC>GTC p.F4V uc010kun.1_Intron|IL6_uc011jyo.1_Missense_Mutation_p.F4V|IL6_uc011jyp.1_5'UTR|IL6_uc003svj.3_Missense_Mutation_p.F4V|IL6_uc011jyq.1_Missense_Mutation_p.F4V NM_000600 NP_000591 P05231 IL6_HUMAN interleukin 6 precursor 4 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding 0 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) TATGAACTCCTTCTCCACAAG 0.597 Esophageal Squamous(47;342 1214 13936 33513) NA OREG0017891 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 43 0 0 0.007413 0 0 AOAH 313 broad.mit.edu 37 7 36713594 36713594 + Missense_Mutation SNP T T C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr7:36713594T>C uc003tfh.3 - 3 645 c.244A>G c.(244-246)ACC>GCC p.T82A AOAH_uc010kxf.2_Missense_Mutation_p.T82A|AOAH_uc011kba.1_Missense_Mutation_p.T50A NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 82 Saposin B-type. inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 AAATAGCAGGTGGTTTTCAAG 0.333 NA 8 18 0 0 0.00308 0 0 ADCY1 107 broad.mit.edu 37 7 45632476 45632476 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr7:45632476G>T uc003tne.3 + 2 776 c.758G>T c.(757-759)CGA>CTA p.R253L ADCY1_uc003tnd.2_Missense_Mutation_p.R28L NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 253 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ATTGAGGACCGACTGAGGCTG 0.592 NA 33 50 9.78485e-24 1.27031e-23 0.013726 1 0 POM121L12 285877 broad.mit.edu 37 7 53104099 53104099 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr7:53104099C>T uc003tpz.2 + 1 751 c.735C>T c.(733-735)CTC>CTT p.L245L NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 245 0 CCTGGAGCCTCAGTTTTTGTG 0.647 NA 17 67 0 0 0.006122 0 0 WBSCR28 135886 broad.mit.edu 37 7 73280063 73280063 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr7:73280063G>C uc003tzk.2 + 3 694 c.658G>C c.(658-660)GAG>CAG p.E220Q RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.E119Q NM_182504 NP_872310 Q6UE05 WBS28_HUMAN hypothetical protein LOC135886 220 integral to membrane breast(1) 1 Lung NSC(55;0.159) GGCTGCCTTTGAGCACACGAC 0.632 NA 30 233 0 0 0.00632 0 0 SMURF1 57154 broad.mit.edu 37 7 98655126 98655126 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr7:98655126C>G uc003upu.1 - 4 572 c.252G>C c.(250-252)AAG>AAC p.K84N SMURF1_uc003upv.1_Missense_Mutation_p.K84N|SMURF1_uc003upt.2_Missense_Mutation_p.K84N NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 84 C2. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) TGTGAATTTTCTTATGGTTCC 0.403 NA 9 59 0 0 0.004482 0 0 SLC26A4 5172 broad.mit.edu 37 7 107342395 107342395 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr7:107342395G>C uc003vep.2 + 17 2151 c.1927G>C c.(1927-1929)GAG>CAG p.E643Q SLC26A4_uc011kmb.1_Missense_Mutation_p.E230Q|SLC26A4_uc011kmc.1_Missense_Mutation_p.E204Q|SLC26A4_uc011kmd.1_Missense_Mutation_p.E212Q NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 643 STAS.|Cytoplasmic (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 TTGGAACTCTGAGCTTCCAGT 0.428 NA Pendred_syndrome 6 56 0 0 0.001168 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635339 122635339 + Nonsense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr7:122635339C>T uc003vkl.1 - 1 416 c.350G>A c.(349-351)TGG>TAG p.W117* NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 117 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 CCACCTCAGCCAGAGAAAGAT 0.398 NA 7 34 0 0 0.001984 0 0 SLC37A3 84255 broad.mit.edu 37 7 140043315 140043315 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr7:140043315G>A uc003vvo.2 - 13 1389 c.1223C>T c.(1222-1224)GCG>GTG p.A408V SLC37A3_uc003vvn.2_Missense_Mutation_p.A8V|SLC37A3_uc003vvp.2_Intron|SLC37A3_uc010lnh.2_Missense_Mutation_p.A392V NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN solute carrier family 37 (glycerol-3-phosphate 408 carbohydrate transport|transmembrane transport integral to membrane ovary(3) 3 Melanoma(164;0.0142) ACCCAAGTCCGCAGAAATAGC 0.453 Esophageal Squamous(133;211 1716 4665 11387 37873) NA 24 52 0 0 0.014323 0 0 ABCB8 11194 broad.mit.edu 37 7 150730745 150730745 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr7:150730745G>T uc003wil.3 + 3 293 c.200G>T c.(199-201)CGG>CTG p.R67L ABCB8_uc003wii.2_Missense_Mutation_p.R87L|ABCB8_uc003wij.3_Missense_Mutation_p.R50L|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.2_Missense_Mutation_p.R50L|ABCB8_uc011kvd.1_Intron|ABCB8_uc003wim.3_Intron|ABCB8_uc003wik.3_Missense_Mutation_p.R50L NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 67 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCCACCTGCGGTCCCAGCTC 0.677 NA 20 60 1.01871e-10 1.18716e-10 0.008871 1 0 DLGAP2 9228 broad.mit.edu 37 8 1497705 1497705 + Silent SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr8:1497705C>T uc003wpl.2 + 2 943 c.846C>T c.(844-846)GAC>GAT p.D282D DLGAP2_uc003wpm.2_Silent_p.D282D NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 361 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TGACGCCCGACGCCAAGTACC 0.647 NA 16 27 0 0 0.003163 0 0 PIWIL2 55124 broad.mit.edu 37 8 22147834 22147834 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr8:22147834C>T uc003xbn.2 + 10 1304 c.1156C>T c.(1156-1158)CGG>TGG p.R386W PIWIL2_uc011kzf.1_Missense_Mutation_p.R386W|PIWIL2_uc010ltv.2_Missense_Mutation_p.R386W NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 386 PAZ. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) TAAGGTCATTCGGAATGACTG 0.473 NA 3 22 0 0 0.004672 0 0 PURG 29942 broad.mit.edu 37 8 30889608 30889608 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr8:30889608C>G uc003xin.2 - 1 710 c.691G>C c.(691-693)GAG>CAG p.E231Q WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.E231Q NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 231 By similarity. nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) TCACGAAACTCAATCATTCCT 0.493 NA 5 81 0 0 0.014758 0 0 SLC10A5 347051 broad.mit.edu 37 8 82606523 82606523 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr8:82606523C>G uc011lfs.1 - 1 685 c.685G>C c.(685-687)GAT>CAT p.D229H NM_001010893 NP_001010893 Q5PT55 NTCP5_HUMAN solute carrier family 10 (sodium/bile acid 229 Cytoplasmic (Potential). integral to membrane bile acid:sodium symporter activity 0 AAATCTCCATCTAGAAGCAGA 0.458 NA 8 164 0 0 0.00308 0 0 ATP6V1C1 528 broad.mit.edu 37 8 104066182 104066182 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr8:104066182C>T uc003ykz.3 + 7 789 c.544C>T c.(544-546)CTC>TTC p.L182F ATP6V1C1_uc010mbz.2_Missense_Mutation_p.L107F|ATP6V1C1_uc003yla.2_Missense_Mutation_p.L182F|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.L107F NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 182 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) TTCAGAGTATCTCGTCACATT 0.318 NA 12 65 0 0 0.010729 0 0 TRPS1 7227 broad.mit.edu 37 8 116426349 116426349 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr8:116426349G>T uc003ynz.2 - 6 4207 c.3748C>A c.(3748-3750)CAT>AAT p.H1250N TRPS1_uc011lhy.1_Missense_Mutation_p.H1254N|TRPS1_uc003yny.2_Missense_Mutation_p.H1263N|TRPS1_uc010mcy.2_Missense_Mutation_p.H1250N NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1250 C2H2-type 7.|Transcriptional repressor domain (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GTGCAAAGATGCTGGCATATG 0.433 NA Langer-Giedion_syndrome 57 98 2.78941e-39 3.73604e-39 0.01441 1 0 ADCY8 114 broad.mit.edu 37 8 131955663 131955663 + Silent SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr8:131955663G>T uc003ytd.3 - 4 1543 c.1287C>A c.(1285-1287)ACC>ACA p.T429T ADCY8_uc010mds.2_Silent_p.T429T NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 429 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GAGCAGACAAGGTCGTGGAGA 0.453 NA HNSCC(32;0.087) 5 40 1.23904e-05 1.35334e-05 0.014758 1 0 PLEC 5339 broad.mit.edu 37 8 144992837 144992837 + Nonsense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr8:144992837C>A uc003zaf.1 - 32 11733 c.11563G>T c.(11563-11565)GAG>TAG p.E3855* PLEC_uc003zab.1_Nonsense_Mutation_p.E3718*|PLEC_uc003zac.1_Nonsense_Mutation_p.E3722*|PLEC_uc003zad.2_Nonsense_Mutation_p.E3718*|PLEC_uc003zae.1_Nonsense_Mutation_p.E3686*|PLEC_uc003zag.1_Nonsense_Mutation_p.E3696*|PLEC_uc003zah.2_Nonsense_Mutation_p.E3704*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E3745* NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3855 Globular 2.|Plectin 17. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CGGGCCACCTCGGCACTCAGC 0.652 NA 19 61 4.96729e-08 5.56939e-08 0.008871 1 0 TAF1L 138474 broad.mit.edu 37 9 32633780 32633780 + Missense_Mutation SNP G G A rs143756087 byFrequency TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr9:32633780G>A uc003zrg.1 - 1 1888 c.1798C>T c.(1798-1800)CGG>TGG p.R600W uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 600 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AAGGTGCCCCGAAGACCCTGT 0.488 NA 9 213 0 0 0.008291 0 0 FAM75A6 389730 broad.mit.edu 37 9 43630649 43630649 + Missense_Mutation SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr9:43630649G>T uc011lrb.1 - 1 82 c.53C>A c.(52-54)GCC>GAC p.A18D NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 18 integral to membrane 0 GGAGCTGGGGGCGTTTAGCGA 0.478 NA 45 125 9.39024e-22 1.20848e-21 0.009718 1 0 APBA1 320 broad.mit.edu 37 9 72130977 72130977 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr9:72130977C>A uc004ahh.2 - 2 1426 c.1150G>T c.(1150-1152)GAC>TAC p.D384Y NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 384 LIN-2/CASK binding.|Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 GGGCTAATGTCCTGGCGCATG 0.617 NA 32 100 7.11191e-15 8.84506e-15 0.013726 1 0 SEMA4D 10507 broad.mit.edu 37 9 91994133 91994133 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr9:91994133G>A uc004aqo.1 - 18 2647 c.2075C>T c.(2074-2076)TCC>TTC p.S692F SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.S690F NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 692 Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 GATGGCCCCGGAGGAGGTGGC 0.602 NA 24 86 0 0 0.016522 0 0 TGFBR1 7046 broad.mit.edu 37 9 101900314 101900314 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr9:101900314C>G uc004azc.2 + 4 824 c.748C>G c.(748-750)CAA>GAA p.Q250E TGFBR1_uc004azd.2_Missense_Mutation_p.Q173E|TGFBR1_uc011lvc.1_Missense_Mutation_p.Q181E NM_004612 NP_004603 P36897 TGFR1_HUMAN transforming growth factor, beta receptor I 250 Protein kinase.|Cytoplasmic (Potential). activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(62;0.0559) AGAGATTTATCAAACTGTAAT 0.393 NA 15 51 0 0 0.003163 0 0 C5 727 broad.mit.edu 37 9 123785720 123785720 + Missense_Mutation SNP G G A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr9:123785720G>A uc004bkv.2 - 10 1108 c.1078C>T c.(1078-1080)CCT>TCT p.P360S C5_uc010mvm.1_Missense_Mutation_p.P360S|C5_uc010mvn.1_Missense_Mutation_p.P360S NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 360 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) AGGAAAAGAGGAGTAGCAACC 0.438 NA 13 149 0 0 0.020292 0 0 LAMC3 10319 broad.mit.edu 37 9 133951336 133951336 + Missense_Mutation SNP C C T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr9:133951336C>T uc004caa.1 + 21 3711 c.3613C>T c.(3613-3615)CGG>TGG p.R1205W NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1205 Domain II and I.|Potential. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) AGAGACCCAGCGGGACCTGGA 0.632 NA 3 28 0 0 0.004672 0 0 BAT2L1 84726 broad.mit.edu 37 9 134350175 134350175 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr9:134350175G>C uc004can.3 + 15 2714 c.2659G>C c.(2659-2661)GAG>CAG p.E887Q BAT2L1_uc010mzj.1_Missense_Mutation_p.E470Q|BAT2L1_uc004cao.3_Missense_Mutation_p.E245Q NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 887 protein binding 0 CCATGGTGTTGAGCGGGAGAC 0.587 NA 10 31 0 0 0.006214 0 0 LCN8 138307 broad.mit.edu 37 9 139652378 139652378 + Missense_Mutation SNP T T G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr9:139652378T>G uc004cjb.1 - 1 354 c.5A>C c.(4-6)GAG>GCG p.E2A LCN8_uc004cja.2_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.E2A NM_178469 NP_848564 Q6JVE9 LCN8_HUMAN lipocalin 8 Error:Variant_position_missing_in_Q6JVE9_after_alignment transport extracellular region binding pancreas(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05) GTCCAGCTCCTCCATGGCTGC 0.687 NA 14 21 0 0 0.003163 0 0 GPR64 10149 broad.mit.edu 37 X 19022898 19022898 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chrX:19022898G>C uc004cyx.2 - 23 2103 c.1939C>G c.(1939-1941)CTT>GTT p.L647V GPR64_uc004cyy.2_Missense_Mutation_p.L644V|GPR64_uc004cyz.2_Missense_Mutation_p.L633V|GPR64_uc004czb.2_Missense_Mutation_p.L647V|GPR64_uc004czc.2_Missense_Mutation_p.L631V|GPR64_uc004czd.2_Missense_Mutation_p.L623V|GPR64_uc004cze.2_Missense_Mutation_p.L617V|GPR64_uc004czf.2_Missense_Mutation_p.L609V|GPR64_uc004cza.2_Missense_Mutation_p.L625V|GPR64_uc004cyw.2_Missense_Mutation_p.L631V|GPR64_uc010nfj.2_Missense_Mutation_p.L528V NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 647 Helical; Name=1; (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) TAGGTTACAAGAGTCACTGAC 0.393 NA 7 112 0 0 0.00308 0 0 KLHL34 257240 broad.mit.edu 37 X 21675838 21675838 + Silent SNP G G T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chrX:21675838G>T uc004czz.1 - 1 611 c.69C>A c.(67-69)CGC>CGA p.R23R NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 23 ovary(1) 1 AGCCCTCGGCGCGCAGGGCCT 0.647 NA 13 7 0.000151284 0.000158234 0.016723 1 0 ATRX 546 broad.mit.edu 37 X 76778855 76778855 + Missense_Mutation SNP G G C TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chrX:76778855G>C uc004ecp.3 - 31 6956 c.6724C>G c.(6724-6726)CAG>GAG p.Q2242E ATRX_uc004ecq.3_Missense_Mutation_p.Q2204E|ATRX_uc004eco.3_Missense_Mutation_p.Q2027E NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 2242 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTATGTATCTGAAGGAGCTCT 0.378 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 3 67 0 0 0.004672 0 0 RGAG1 57529 broad.mit.edu 37 X 109695638 109695638 + Nonsense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chrX:109695638C>G uc004eor.1 + 3 2039 c.1793C>G c.(1792-1794)TCA>TGA p.S598* RGAG1_uc011msr.1_Nonsense_Mutation_p.S598* NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 598 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GACACAGCCTCAGGAGTGATG 0.502 NA 30 33 0 0 0.008361 0 0 CYP4B1 1580 broad.mit.edu 37 1 47264795 47264796 + Frame_Shift_Ins INS - - CT TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr1:47264795_47264796insCT uc001cqm.3 + 1 126_127 c.42_43insCT c.(40-45)GGCCTGfs p.G14fs CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqn.3_Frame_Shift_Ins_p.G14fs|CYP4B1_uc009vym.2_Frame_Shift_Ins_p.G14fs|CYP4B1_uc010omk.1_5'UTR NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 14_15 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CCTCCTTGGGCCTGTGGGCTTC 0.579 NA 11 35 --- --- --- --- NA NA NA NA NA KITLG 4254 broad.mit.edu 37 12 88912534 88912534 + Frame_Shift_Del DEL T T - TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr12:88912534delT uc001tav.2 - 4 486 c.303delA c.(301-303)ATAfs p.I101fs KITLG_uc009zsn.2_Frame_Shift_Del_p.I29fs|KITLG_uc001taw.2_Frame_Shift_Del_p.I101fs|KITLG_uc009zso.1_Intron NM_000899 NP_000890 P21583 SCF_HUMAN KIT ligand isoform b precursor 101 Extracellular (Potential). cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding ovary(1) 1 CAAGTTTGTCTATGATGGAAT 0.368 NA Testicular_Cancer_Familial_Clustering_of 20 52 --- --- --- --- NA NA NA NA NA MYH1 4619 broad.mit.edu 37 17 10408226 10408226 + Frame_Shift_Del DEL T T - TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr17:10408226delT uc002gmo.2 - 22 2686 c.2592delA c.(2590-2592)AAAfs p.K864fs uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 864 Potential. 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 CCAGCTCTTCTTTGGTTTTCT 0.438 NA 43 95 --- --- --- --- NA NA NA NA NA STK11 6794 broad.mit.edu 37 19 1206999 1207000 + Frame_Shift_Ins INS - - G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr19:1206999_1207000insG uc002lrl.1 + 1 1202_1203 c.87_88insG c.(85-90)ATCGACfs p.I29fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 29_30 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TCCACCGCATCGACTCCACCGA 0.639 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 23 22 --- --- --- --- NA NA NA NA NA SYN2 6854 broad.mit.edu 37 3 12209961 12209961 + Frame_Shift_Del DEL A A - TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr3:12209961delA uc003bwm.2 + 13 1305 c.1141delA c.(1141-1143)AAAfs p.K381fs SYN2_uc003bwl.1_Frame_Shift_Del_p.K381fs|SYN2_uc003bwn.2_Frame_Shift_Del_p.K55fs NM_133625 NP_598328 Q92777 SYN2_HUMAN synapsin II isoform IIa 381 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity ovary(1)|central_nervous_system(1) 2 CAAAGATGGGAAAGACTACAT 0.483 NA 7 31 --- --- --- --- NA NA NA NA NA SLC22A13 9390 broad.mit.edu 37 3 38315780 38315780 + Frame_Shift_Del DEL T T - TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr3:38315780delT uc003chz.3 + 2 450 c.396delT c.(394-396)GATfs p.D132fs SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Frame_Shift_Del_p.D132fs NM_004256 NP_004247 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion 132 Extracellular (Potential). integral to plasma membrane organic cation transmembrane transporter activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TGGTTTGTGATCGGAAGCACC 0.572 NA 26 100 --- --- --- --- NA NA NA NA NA AMOTL2 51421 broad.mit.edu 37 3 134089682 134089683 + Frame_Shift_Ins INS - - A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr3:134089682_134089683insA uc003eqf.2 - 2 884_885 c.767_768insT c.(766-768)GGCfs p.G256fs AMOTL2_uc003eqg.1_Frame_Shift_Ins_p.G198fs|AMOTL2_uc003eqh.1_Frame_Shift_Ins_p.G198fs NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 198 large_intestine(1) 1 CAGCAGGGGGGCCCCTCAGTGG 0.668 NA 28 53 --- --- --- --- NA NA NA NA NA NCOA7 135112 broad.mit.edu 37 6 126210672 126210673 + Frame_Shift_Ins INS - - T TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr6:126210672_126210673insT uc010kes.2 + 11 1921_1922 c.1472_1473insT c.(1471-1473)GATfs p.D491fs NCOA7_uc003qae.3_Frame_Shift_Ins_p.D491fs|NCOA7_uc003qah.2_Frame_Shift_Ins_p.D480fs|NCOA7_uc003qai.2_Frame_Shift_Ins_p.D491fs|NCOA7_uc010ket.2_Frame_Shift_Ins_p.D376fs NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 491 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) GAGAAGCAAGATATAATGCCAG 0.436 NA 19 34 --- --- --- --- NA NA NA NA NA ADAM22 53616 broad.mit.edu 37 7 87772416 87772417 + Frame_Shift_Ins INS - - CA TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr7:87772416_87772417insCA uc003ujn.2 + 15 1375_1376 c.1296_1297insCA c.(1294-1299)GCCTGCfs p.A432fs ADAM22_uc003ujk.1_Frame_Shift_Ins_p.A432fs|ADAM22_uc003ujl.1_Frame_Shift_Ins_p.A432fs|ADAM22_uc003ujm.2_Frame_Shift_Ins_p.A432fs|ADAM22_uc003ujo.2_Frame_Shift_Ins_p.A432fs|ADAM22_uc003ujp.1_Frame_Shift_Ins_p.A484fs NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 432_433 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GAGGTGGTGCCTGCCTTTTCAA 0.312 NA 36 105 --- --- --- --- NA NA NA NA NA SLC26A7 115111 broad.mit.edu 37 8 92346585 92346585 + Frame_Shift_Del DEL G G - TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c9fa520a-1690-41d8-b3ca-03167816f6f9 99629441-f559-4b02-a416-757e40c92eb6 g.chr8:92346585delG uc003yex.2 + 7 983 c.705delG c.(703-705)TTGfs p.L235fs SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Frame_Shift_Del_p.L235fs|SLC26A7_uc003yfa.2_Frame_Shift_Del_p.L235fs NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 235 Helical; (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) TTTTATCCTTGCTGAGCATTG 0.323 NA 14 61 --- --- --- --- NA NA NA NA NA