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 SCNN1D 6339 broad.mit.edu 37 1 1221528 1221528 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:1221528G>A uc001adu.1 + 6 913 c.289G>A c.(289-291)GTC>ATC p.V97I SCNN1D_uc001adt.1_Missense_Mutation_p.V261I|SCNN1D_uc001adw.2_Missense_Mutation_p.V163I|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.V97I NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GGGAGCCCTGGTCGCGCTCTG 0.692 NA 9 9 0 0 0.006214 0 0 ATAD3C 219293 broad.mit.edu 37 1 1403796 1403796 + Silent SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:1403796G>C uc001aft.2 + 12 2117 c.1122G>C c.(1120-1122)CTG>CTC p.L374L NM_001039211 NP_001034300 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 374 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) ACGGGGTCCTGACCGAGGCCA 0.672 NA 8 31 0 0 0.004482 0 0 UBE4B 10277 broad.mit.edu 37 1 10238755 10238755 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:10238755A>T uc001aqs.3 + 26 4292 c.3579A>T c.(3577-3579)GCA>GCT p.A1193A UBE4B_uc001aqr.3_Silent_p.A1064A|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.A648A|UBE4B_uc001aqu.2_Silent_p.A74A NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 1193 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TGCGGAAGGCAGGGATCAAAT 0.453 NA 17 53 0 0 0.004007 0 0 NBPF1 55672 broad.mit.edu 37 1 16892902 16892902 + Splice_Site SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:16892902C>A uc009vos.1 - 27 4004 c.3116_splice c.e27+1 p.R1039_splice uc001ayw.2_5'Flank NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CTCAAAGTTACCTGGGGCATG 0.413 NA 7 494 3.07112e-06 3.64235e-06 0.000978 1 0 PLA2G5 5322 broad.mit.edu 37 1 20416375 20416375 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:20416375C>A uc001bcy.2 + 4 547 c.279C>A c.(277-279)GGC>GGA p.G93G PLA2G5_uc001bcw.2_RNA|PLA2G5_uc001bcx.2_Silent_p.G124G NM_000929 NP_000920 P39877 PA2G5_HUMAN phospholipase A2, group V precursor 93 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity skin(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) TCGCGTGGGGCGTGGTCACCT 0.582 NA 5 40 0.000602214 0.000662548 0.000602 1 0 KIF17 57576 broad.mit.edu 37 1 21044096 21044096 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:21044096G>C uc001bdr.3 - 1 222 c.104C>G c.(103-105)GCC>GGC p.A35G KIF17_uc001bds.3_Missense_Mutation_p.A35G NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 35 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) GCAGCACTGGGCGCGCGCGCA 0.692 NA 18 39 0 0 0.007413 0 0 RUNX3 864 broad.mit.edu 37 1 25291042 25291042 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:25291042G>A uc009vrj.2 - 2 267 c.21C>T c.(19-21)TTC>TTT p.F7F RUNX3_uc001bjr.2_Silent_p.F7F|RUNX3_uc009vrk.2_Silent_p.F7F|RUNX3_uc009vrl.1_Silent_p.F7F NM_001031680 NP_001026850 Q13761 RUNX3_HUMAN runt-related transcription factor 3 isoform 1 252 Pro/Ser/Thr-rich. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) GGAAGGAGTCGAAGATGCTGT 0.587 NA 5 16 0 0 0.000602 0 0 HPCAL4 51440 broad.mit.edu 37 1 40148339 40148339 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:40148339G>T uc001cdr.2 - 4 565 c.445C>A c.(445-447)CAG>AAG p.Q149K HPCAL4_uc010oix.1_Missense_Mutation_p.Q77K NM_016257 NP_057341 Q9UM19 HPCL4_HUMAN hippocalcin-like protein 4 149 EF-hand 4. central nervous system development intracellular calcium ion binding central_nervous_system(1) 1 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TCCACACGCTGCTGGGGCGTG 0.547 NA 52 129 6.3008e-33 1.11534e-32 0.00361 1 0 CTPS 1503 broad.mit.edu 37 1 41453091 41453091 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:41453091G>T uc001cgk.3 + 4 893 c.385G>T c.(385-387)GCG>TCG p.A129S CTPS_uc010ojo.1_Intron|CTPS_uc010ojp.1_Missense_Mutation_p.A136S|CTPS_uc001cgl.3_Missense_Mutation_p.A129S|CTPS_uc010ojq.1_5'Flank NM_001905 NP_001896 P17812 PYRG1_HUMAN CTP synthase 129 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) L-Glutamine(DB00130) GATGAGACAGGCGTTAATACC 0.433 NA 22 55 7.07758e-08 8.94884e-08 0.004656 1 0 GPX7 2882 broad.mit.edu 37 1 53073948 53073948 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:53073948G>A uc001cue.2 + 3 454 c.415G>A c.(415-417)GAG>AAG p.E139K NM_015696 NP_056511 Q96SL4 GPX7_HUMAN glutathione peroxidase 7 precursor 139 response to oxidative stress extracellular region glutathione peroxidase activity 0 Glutathione(DB00143) TTCTGGGAAGGAGCCCACCTG 0.552 NA 42 107 0 0 0.002522 0 0 CPT2 1376 broad.mit.edu 37 1 53676835 53676835 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:53676835G>T uc001cvb.3 + 4 2004 c.1489G>T c.(1489-1491)GGC>TGC p.G497C NM_000098 NP_000089 P23786 CPT2_HUMAN carnitine O-palmitoyltransferase precursor 497 Mitochondrial matrix (By similarity). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity 0 L-Carnitine(DB00583)|Perhexiline(DB01074) ATTCAAGCACGGCCGCACTGA 0.617 NA 9 33 3.07112e-06 3.64235e-06 0.000978 1 0 L1TD1 54596 broad.mit.edu 37 1 62675610 62675610 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:62675610T>A uc001dae.3 + 4 1466 c.1164T>A c.(1162-1164)GAT>GAA p.D388E NM_019079 NP_061952 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 388 Glu-rich. ovary(1)|skin(1) 2 AGGAGCTGGATGAAGAGGCCT 0.323 NA 31 79 0 0 0.009535 0 0 SGIP1 84251 broad.mit.edu 37 1 67155929 67155929 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:67155929A>T uc001dcr.2 + 17 1717 c.1500A>T c.(1498-1500)TTA>TTT p.L500F SGIP1_uc010opd.1_Missense_Mutation_p.L100F|SGIP1_uc001dcs.2_Missense_Mutation_p.L100F|SGIP1_uc001dct.2_Missense_Mutation_p.L100F|SGIP1_uc009wat.2_Missense_Mutation_p.L294F NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 500 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 TAGCACCCTTAGCGCGGGCTG 0.463 NA 69 170 0 0 0.00361 0 0 AK5 26289 broad.mit.edu 37 1 77987585 77987585 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:77987585G>T uc001dhn.2 + 12 1642 c.1385G>T c.(1384-1386)GGC>GTC p.G462V AK5_uc001dho.2_Missense_Mutation_p.G436V NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 462 AMP (By similarity). ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 CTGATTGACGGCTATCCTCGG 0.577 NA 10 30 1.08611e-07 1.36454e-07 0.000978 1 0 ZZZ3 26009 broad.mit.edu 37 1 78047770 78047770 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:78047770C>A uc001dhq.2 - 7 2162 c.1686G>T c.(1684-1686)TTG>TTT p.L562F ZZZ3_uc001dhr.2_Missense_Mutation_p.L68F|ZZZ3_uc001dhp.2_Missense_Mutation_p.L562F NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 CGATCTCAGGCAATTGAACAA 0.343 NA 33 123 4.32679e-17 6.8058e-17 0.006999 1 0 CLCA4 22802 broad.mit.edu 37 1 87012868 87012868 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:87012868C>A uc009wcs.2 + 1 110 c.66C>A c.(64-66)TCC>TCA p.S22S CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_5'UTR NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 22 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CAAATACTTCCTTCATTAAGC 0.363 NA 29 74 1.75199e-13 2.55893e-13 0.007291 1 0 PTBP2 58155 broad.mit.edu 37 1 97278637 97278637 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:97278637A>T uc001drq.2 + 13 1687 c.1441A>T c.(1441-1443)ACT>TCT p.T481S PTBP2_uc001drn.2_Missense_Mutation_p.T486S|PTBP2_uc001dro.2_Missense_Mutation_p.T481S|PTBP2_uc010otz.1_Missense_Mutation_p.T497S|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.T429S|PTBP2_uc001drr.2_Missense_Mutation_p.T486S|PTBP2_uc010oua.1_Missense_Mutation_p.T489S|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_Missense_Mutation_p.T100S|PTBP2_uc001drt.2_Missense_Mutation_p.T100S NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 481 RRM 4. nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) CACTGGGGGCACTGTGAAAGC 0.333 NA 19 58 0 0 0.010504 0 0 LPPR4 9890 broad.mit.edu 37 1 99771388 99771388 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:99771388A>G uc001dse.2 + 7 1220 c.1114A>G c.(1114-1116)ACA>GCA p.T372A LPPR4_uc010oue.1_Missense_Mutation_p.T314A NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 372 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AATTGCTCATACAGAAGGCAT 0.468 NA 40 91 0 0 0.002522 0 0 VCAM1 7412 broad.mit.edu 37 1 101190255 101190255 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:101190255G>T uc001dti.2 + 4 857 c.737G>T c.(736-738)TGT>TTT p.C246F VCAM1_uc001dtj.2_Missense_Mutation_p.C246F|VCAM1_uc010ouj.1_Missense_Mutation_p.C184F NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 246 Ig-like C2-type 3.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ACCATGACCTGTTCCAGCGAG 0.413 NA 11 35 3.86212e-05 4.4043e-05 0.008291 1 0 COL11A1 1301 broad.mit.edu 37 1 103488398 103488398 + Missense_Mutation SNP T T C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:103488398T>C uc001dul.2 - 8 1463 c.1145A>G c.(1144-1146)GAT>GGT p.D382G COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.D394G|COL11A1_uc001dun.2_Missense_Mutation_p.D343G|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 382 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTCATAAAAATCATATTCGCC 0.368 NA 24 81 0 0 0.00278 0 0 SPAG17 200162 broad.mit.edu 37 1 118539080 118539080 + Nonsense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:118539080G>A uc001ehk.2 - 34 5034 c.4966C>T c.(4966-4968)CGA>TGA p.R1656* NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1656 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCACTGTCTCGAAGAAGTTCC 0.358 NA 8 43 0 0 0.004482 0 0 TARS2 80222 broad.mit.edu 37 1 150470105 150470105 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:150470105G>A uc001euq.2 + 10 1127 c.1120G>A c.(1120-1122)GAC>AAC p.D374N TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.D292N|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Missense_Mutation_p.D244N NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 374 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TTATCAGGAAGACATGTTTGC 0.547 NA 11 121 0 0 0.008291 0 0 TCHH 7062 broad.mit.edu 37 1 152082789 152082789 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:152082789C>G uc001ezp.2 - 2 2904 c.2904G>C c.(2902-2904)CAG>CAC p.Q968H TCHH_uc009wne.1_Missense_Mutation_p.Q968H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 968 10 X 30 AA tandem repeats.|4-3. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) gctcttccttctgctgcagct 0.224 NA 29 868 0 0 0.008361 0 0 FLG 2312 broad.mit.edu 37 1 152276900 152276900 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:152276900G>T uc001ezu.1 - 3 10498 c.10462C>A c.(10462-10464)CAA>AAA p.Q3488K NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3488 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTACGAGTTTGTCTGCTGGCA 0.557 NA Ichthyosis 17 913 3.41278e-10 4.5995e-10 0.00499 1 0 IVL 3713 broad.mit.edu 37 1 152882470 152882470 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:152882470C>T uc001fau.2 + 2 243 c.197C>T c.(196-198)GCT>GTT p.A66V NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 66 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CACATGACTGCTGTAAAGGGA 0.373 NA 66 89 0 0 0.00361 0 0 IVL 3713 broad.mit.edu 37 1 152882785 152882785 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:152882785G>T uc001fau.2 + 2 558 c.512G>T c.(511-513)GGA>GTA p.G171V NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 171 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|2. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) cagcaggagggacagctgaag 0.139 NA 20 19 8.00594e-06 9.43841e-06 0.007413 1 0 PGLYRP4 57115 broad.mit.edu 37 1 153303330 153303330 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:153303330C>A uc001fbo.2 - 9 1100 c.1035G>T c.(1033-1035)CTG>CTT p.L345L PGLYRP4_uc001fbp.2_Silent_p.L341L NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein-I-beta 345 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3)|skin(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGTGGCCCACCAGCAGGTAGT 0.552 NA 63 152 2.50483e-33 4.46055e-33 0.00361 1 0 SYT11 23208 broad.mit.edu 37 1 155851156 155851156 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:155851156G>A uc001fmg.2 + 4 1416 c.1153G>A c.(1153-1155)GAT>AAT p.D385N SYT11_uc010pgq.1_Missense_Mutation_p.D78N NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 385 C2 2.|Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) TATCGACTTCGATCGCACCAC 0.542 NA 38 776 0 0 0.00361 0 0 FCRL5 83416 broad.mit.edu 37 1 157514076 157514076 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:157514076G>T uc001fqu.2 - 5 978 c.820C>A c.(820-822)CCG>ACG p.P274T FCRL5_uc009wsm.2_Missense_Mutation_p.P274T|FCRL5_uc010phv.1_Missense_Mutation_p.P274T|FCRL5_uc010phw.1_Missense_Mutation_p.P189T|FCRL5_uc001fqv.1_Missense_Mutation_p.P274T|FCRL5_uc010phx.1_Missense_Mutation_p.P25T NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 274 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CAGGATCTCGGGCTGTCAGAT 0.507 NA 168 111 1.52288e-82 2.90376e-82 0.00361 1 0 SPTA1 6708 broad.mit.edu 37 1 158585087 158585087 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:158585087A>T uc001fst.1 - 48 6906 c.6707T>A c.(6706-6708)ATT>AAT p.I2236N NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2236 Spectrin 21. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGCCAATCCAATGGTGCTGTA 0.532 NA 6 293 0 0 0.001984 0 0 ATP1A2 477 broad.mit.edu 37 1 160104960 160104960 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:160104960G>A uc001fvc.2 + 15 2122 c.1990G>A c.(1990-1992)GGC>AGC p.G664S ATP1A2_uc001fvb.2_Missense_Mutation_p.G664S|ATP1A2_uc001fvd.2_Missense_Mutation_p.G400S NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 664 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGTGGTGCACGGCTCTGACCT 0.597 NA 22 104 0 0 0.002299 0 0 SLAMF1 6504 broad.mit.edu 37 1 160604515 160604515 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:160604515G>T uc001fwl.3 - 3 934 c.588C>A c.(586-588)CTC>CTA p.L196L SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 196 Ig-like C2-type.|Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGCCGAGGGTGAGGGACAGGA 0.602 NA 118 59 1.39881e-40 2.56809e-40 0.00361 1 0 NUF2 83540 broad.mit.edu 37 1 163317609 163317609 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:163317609G>C uc001gcq.1 + 12 1305 c.1005G>C c.(1003-1005)AAG>AAC p.K335N NUF2_uc001gcr.1_Missense_Mutation_p.K335N|NUF2_uc009wvc.1_Missense_Mutation_p.K288N NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 335 Interaction with the N-terminus of NDC80.|Potential. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) AGAAATTGAAGACTGAAGAAA 0.333 NA 6 47 0 0 0.001984 0 0 F5 2153 broad.mit.edu 37 1 169519136 169519136 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:169519136T>A uc001ggg.1 - 10 1659 c.1514A>T c.(1513-1515)TAC>TTC p.Y505F F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 505 F5/8 type A 2.|Plastocyanin-like 3. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTCACTGTAGTATGGTCTTGT 0.443 NA 29 136 0 0 0.007291 0 0 TNR 7143 broad.mit.edu 37 1 175365895 175365895 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:175365895A>T uc001gkp.1 - 3 1106 c.1025T>A c.(1024-1026)ATT>AAT p.I342N TNR_uc009wwu.1_Missense_Mutation_p.I342N|TNR_uc010pmz.1_Intron NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 342 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TTCCAGCTCAATGGACCTGTC 0.607 NA 20 145 0 0 0.010504 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563917 176563917 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:176563917G>T uc001gkz.2 + 3 2341 c.1177G>T c.(1177-1179)GGT>TGT p.G393C PAPPA2_uc001gky.1_Missense_Mutation_p.G393C|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 393 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AGACCAGTCTGGTCCCCTGAA 0.592 NA 7 243 1.6384e-10 2.2182e-10 0.001984 1 0 PAPPA2 60676 broad.mit.edu 37 1 176659372 176659372 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:176659372A>T uc001gkz.2 + 5 3401 c.2237A>T c.(2236-2238)AAA>ATA p.K746I PAPPA2_uc001gky.1_Missense_Mutation_p.K746I|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 746 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CATGTCTTTAAAGGAGTCAGT 0.547 NA 48 267 0 0 0.00361 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709330 176709330 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:176709330G>T uc001gkz.2 + 14 5313 c.4149G>T c.(4147-4149)CAG>CAT p.Q1383H PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1383 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ATCAGGGACAGAGGTACAAAC 0.458 NA 17 46 1.02788e-11 1.4342e-11 0.00499 1 0 PAPPA2 60676 broad.mit.edu 37 1 176734888 176734888 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:176734888G>T uc001gkz.2 + 15 5402 c.4238G>T c.(4237-4239)GGC>GTC p.G1413V PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1413 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ACCTCTATAGGCCCAGGTCTC 0.522 NA 83 267 1.20873e-29 2.11439e-29 0.00361 1 0 CACNA1E 777 broad.mit.edu 37 1 181686252 181686252 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:181686252A>T uc001gow.2 + 11 1504 c.1339A>T c.(1339-1341)ATC>TTC p.I447F CACNA1E_uc009wxs.2_Missense_Mutation_p.I354F NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 447 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CCGAGCCAGTATCAAAAGTGC 0.512 NA 27 139 0 0 0.002096 0 0 CACNA1E 777 broad.mit.edu 37 1 181708286 181708286 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:181708286A>T uc001gow.2 + 25 3781 c.3616A>T c.(3616-3618)ATA>TTA p.I1206L CACNA1E_uc009wxs.2_Missense_Mutation_p.I1094L|CACNA1E_uc001gox.1_Missense_Mutation_p.I432L|CACNA1E_uc009wxt.2_Missense_Mutation_p.I432L NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1206 III.|Helical; Name=S2 of repeat III. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TCTGCAGATGATAGACCAAGG 0.532 NA 51 233 0 0 0.00361 0 0 ASPM 259266 broad.mit.edu 37 1 197074309 197074309 + Missense_Mutation SNP A A C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:197074309A>C uc001gtu.2 - 18 4329 c.4072T>G c.(4072-4074)TGG>GGG p.W1358G ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1358 IQ 1. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TATCTTCTCCAATATCCCTGG 0.284 NA 5 16 0 0 0.000602 0 0 CRB1 23418 broad.mit.edu 37 1 197390141 197390141 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:197390141G>A uc001gtz.2 + 6 1318 c.1183G>A c.(1183-1185)GAA>AAA p.E395K CRB1_uc010poz.1_Missense_Mutation_p.E326K|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.E283K|CRB1_uc010ppb.1_Missense_Mutation_p.E395K|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.E44K NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 395 Extracellular (Potential).|EGF-like 9. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AATCCACTGCGAAGAAGACGT 0.343 NA 39 182 0 0 0.006999 0 0 GPR25 2848 broad.mit.edu 37 1 200842857 200842857 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:200842857G>A uc001gvn.1 + 1 692 c.692G>A c.(691-693)CGG>CAG p.R231Q NM_005298 NP_005289 O00155 GPR25_HUMAN G protein-coupled receptor 25 231 Cytoplasmic (Potential). integral to plasma membrane ovary(1) 1 CGCCTGCGACGGCCGCCGCAC 0.687 NA 4 92 0 0 0.000602 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202406948 202406948 + Splice_Site SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:202406948G>T uc001gya.1 + 10 1399 c.1255_splice c.e10-1 p.F419_splice PPP1R12B_uc001gxy.2_Splice_Site_p.F419_splice|PPP1R12B_uc009xad.1_Splice_Site_p.F225_splice|PPP1R12B_uc009xae.1_Splice_Site_p.V381_splice|PPP1R12B_uc001gxz.1_Splice_Site_p.F419_splice NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) TTCTCTCATAGTTCTCTTCTG 0.408 NA 22 77 1.87028e-06 2.24965e-06 0.001882 1 0 KDM5B 10765 broad.mit.edu 37 1 202699059 202699059 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:202699059C>G uc001gyf.2 - 26 4389 c.4273G>C c.(4273-4275)GAA>CAA p.E1425Q KDM5B_uc009xag.2_Missense_Mutation_p.E1461Q|KDM5B_uc001gyg.1_Missense_Mutation_p.E1267Q NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1425 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 TTAACTCGTTCCCACCGCTCA 0.478 NA 160 145 0 0 0.00361 0 0 ADORA1 134 broad.mit.edu 37 1 203134620 203134620 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:203134620C>T uc001gze.1 + 4 1006 c.573C>T c.(571-573)CCC>CCT p.P191P FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Silent_p.P191P|ADORA1_uc010pqg.1_Silent_p.P123P|ADORA1_uc009xak.1_Missense_Mutation_p.P117S|ADORA1_uc010pqh.1_Silent_p.P224P NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 191 Helical; Name=5; (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) GGGTGCTGCCCCCGCTTCTCC 0.567 NA 46 152 0 0 0.00361 0 0 NFASC 23114 broad.mit.edu 37 1 204970313 204970313 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:204970313C>A uc001hbj.2 + 26 3363 c.3035C>A c.(3034-3036)TCC>TAC p.S1012Y NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Intron|NFASC_uc009xbh.1_Intron NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 1119 Extracellular (Potential).|Fibronectin type-III 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GATGAGCAGTCCATATGGAAC 0.473 NA 10 32 1.33987e-11 1.86512e-11 0.008291 1 0 C1orf65 164127 broad.mit.edu 37 1 223567913 223567913 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:223567913G>T uc001hoa.2 + 1 1199 c.1096G>T c.(1096-1098)GCC>TCC p.A366S NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 366 Potential. central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) GAAGGCGCGCGCCCAGGCAGA 0.672 NA 23 17 1.28384e-07 1.60277e-07 0.001882 1 0 EPHX1 2052 broad.mit.edu 37 1 226016497 226016497 + Missense_Mutation SNP A A C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:226016497A>C uc001hpk.2 + 2 147 c.67A>C c.(67-69)AAA>CAA p.K23Q EPHX1_uc001hpl.2_Missense_Mutation_p.K23Q NM_001136018 NP_001129490 P07099 HYEP_HUMAN epoxide hydrolase 1 23 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity ovary(3)|lung(1) 4 Breast(184;0.197) CTCCCGGGACAAAGAGGAAAC 0.562 NA 25 33 0 0 0.003954 0 0 ACTN2 88 broad.mit.edu 37 1 236902645 236902645 + Missense_Mutation SNP G G T rs112882610 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:236902645G>T uc001hyf.2 + 10 1124 c.920G>T c.(919-921)CGG>CTG p.R307L ACTN2_uc001hyg.2_Missense_Mutation_p.R99L|ACTN2_uc009xgi.1_Missense_Mutation_p.R307L|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_5'UTR NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 307 Spectrin 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CTGGAGAACCGGACTCCCGAG 0.567 NA 98 94 2.608e-42 4.80293e-42 0.00361 1 0 NLRP3 114548 broad.mit.edu 37 1 247607348 247607348 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:247607348C>A uc001icr.2 + 9 2882 c.2744C>A c.(2743-2745)ACG>AAG p.T915K NLRP3_uc001ics.2_Missense_Mutation_p.T858K|NLRP3_uc001icu.2_Missense_Mutation_p.T915K|NLRP3_uc001icw.2_Missense_Mutation_p.T858K|NLRP3_uc001icv.2_Missense_Mutation_p.T801K|NLRP3_uc010pyw.1_Missense_Mutation_p.T893K NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 915 LRR 7. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CAGAATCTCACGCACCTTTAC 0.512 NA 43 75 4.17593e-13 6.05459e-13 0.007835 1 0 OR2B11 127623 broad.mit.edu 37 1 247614966 247614966 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:247614966C>A uc010pyx.1 - 1 319 c.319G>T c.(319-321)GTC>TTC p.V107F NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-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) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CAGTGGAAGACTGCATATTGC 0.592 NA 70 74 1.48072e-28 2.56744e-28 0.00361 1 0 C1orf150 148823 broad.mit.edu 37 1 247737611 247737611 + Missense_Mutation SNP T T C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:247737611T>C uc001idf.2 + 5 380 c.335T>C c.(334-336)CTT>CCT p.L112P C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_RNA NM_145278 NP_660321 Q5JQS6 CA150_HUMAN hypothetical protein LOC148823 112 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) GAATATGCCCTTCTTAGGACT 0.443 NA 35 107 0 0 0.002836 0 0 C10orf47 254427 broad.mit.edu 37 10 11908754 11908754 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:11908754G>A uc001ikx.2 + 3 517 c.363G>A c.(361-363)GAG>GAA p.E121E uc001iky.1_Intron NM_153256 NP_694988 Q86WR7 CJ047_HUMAN hypothetical protein LOC254427 121 central_nervous_system(1) 1 GGGAAGCCGAGGGCCTTCCAG 0.622 NA 29 62 0 0 0.00874 0 0 MSRB2 22921 broad.mit.edu 37 10 23409753 23409753 + Missense_Mutation SNP A A C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:23409753A>C uc001iro.2 + 5 622 c.511A>C c.(511-513)AAC>CAC p.N171H NM_012228 NP_036360 Q9Y3D2 MSRB2_HUMAN methionine sulfoxide reductase B2 precursor 171 protein repair mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 L-Methionine(DB00134) GTTTTGCATCAACAGTGTGGC 0.493 Esophageal Squamous(89;1240 1363 4973 30188 42299) NA 17 39 0 0 0.006122 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317504 30317504 + Nonsense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:30317504G>A uc001iux.2 - 2 1632 c.1573C>T c.(1573-1575)CAG>TAG p.Q525* KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Nonsense_Mutation_p.Q387*|KIAA1462_uc009xle.1_Nonsense_Mutation_p.Q525* NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 525 ovary(4) 4 TCAGGCCACTGTCCCCTTGCC 0.632 NA 81 186 0 0 0.00361 0 0 EPC1 80314 broad.mit.edu 37 10 32573907 32573907 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:32573907G>A uc001iwg.1 - 10 1733 c.1463C>T c.(1462-1464)TCA>TTA p.S488L EPC1_uc001iwi.3_Missense_Mutation_p.S438L|EPC1_uc009xlt.2_Missense_Mutation_p.S438L|EPC1_uc001iwh.1_Missense_Mutation_p.S488L NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN enhancer of polycomb 1 488 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex ovary(3)|central_nervous_system(1) 4 Prostate(175;0.0199) ATGTTGTGGTGAGGAAAGCAT 0.388 NA 30 108 0 0 0.007291 0 0 AGAP6 414189 broad.mit.edu 37 10 51768660 51768660 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:51768660G>T uc001jix.3 + 8 1173 c.775G>T c.(775-777)GGG>TGG p.G259W NM_001077665 NP_001071133 Q5VW22 AGAP6_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 259 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding skin(1) 1 ATCTGAGAAAGGGAGTGACCC 0.562 NA 87 233 7.79638e-53 1.4677e-52 0.00361 1 0 ANK3 288 broad.mit.edu 37 10 61833765 61833765 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:61833765C>A uc001jky.2 - 37 7066 c.6874G>T c.(6874-6876)GGT>TGT p.G2292C ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2292 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TCAAACAGACCTGCCAGTTCT 0.493 NA 44 127 2.56175e-15 3.90518e-15 0.00361 1 0 LRRTM3 347731 broad.mit.edu 37 10 68857483 68857483 + Nonsense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:68857483G>T uc001jmz.1 + 3 2225 c.1675G>T c.(1675-1677)GAG>TAG p.E559* CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 559 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 AACACACCTAGAGACTGAGCT 0.483 NA 13 33 2.27111e-07 2.82341e-07 0.001368 1 0 MAT1A 4143 broad.mit.edu 37 10 82036276 82036276 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:82036276C>A uc001kbw.2 - 6 879 c.624G>T c.(622-624)CAG>CAT p.Q208H NM_000429 NP_000420 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 208 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) CTTCGTTGTGCTGCACAGAGA 0.582 NA 43 173 9.84934e-19 1.59146e-18 0.002522 1 0 AGAP11 119385 broad.mit.edu 37 10 88769369 88769369 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:88769369C>G uc001kee.2 + 12 2564 c.1360C>G c.(1360-1362)CAC>GAC p.H454D AGAP11_uc001kef.2_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase 454 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 CCTGGGCCAGCACCTGCTGCG 0.607 NA 43 126 0 0 0.002522 0 0 AS3MT 57412 broad.mit.edu 37 10 104638636 104638636 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:104638636G>C uc001kwk.2 + 9 913 c.773G>C c.(772-774)CGC>CCC p.R258P AS3MT_uc001kwj.2_Missense_Mutation_p.R260P|AS3MT_uc009xxh.2_Missense_Mutation_p.R258P NM_020682 NP_065733 Q9HBK9 AS3MT_HUMAN arsenic (+3 oxidation state) methyltransferase 258 arsonoacetate metabolic process|toxin metabolic process cytosol arsenite methyltransferase activity|methylarsonite methyltransferase activity 0 Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223) GCAACATTTCGCCTCTTCAAA 0.413 NA 25 95 0 0 0.00333 0 0 ACSL5 51703 broad.mit.edu 37 10 114169302 114169302 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:114169302G>T uc001kzs.2 + 7 711 c.570G>T c.(568-570)AAG>AAT p.K190N ACSL5_uc001kzt.2_Missense_Mutation_p.K190N|ACSL5_uc001kzu.2_Missense_Mutation_p.K246N|ACSL5_uc009xxz.2_Missense_Mutation_p.K190N|ACSL5_uc010qrj.1_Translation_Start_Site NM_203379 NP_976313 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 190 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(2)|skin(1) 3 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CACCCCAAAAGGCATTGGTGC 0.498 NA 46 118 5.73435e-26 9.88508e-26 0.00361 1 0 GRK5 2869 broad.mit.edu 37 10 121140407 121140407 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:121140407C>A uc001led.2 + 3 462 c.229C>A c.(229-231)CTG>ATG p.L77M GRK5_uc009xzh.2_Translation_Start_Site|GRK5_uc010qta.1_Translation_Start_Site NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 77 N-terminal.|RGS. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) CAGGCCTGGGCTGGAGTGTTA 0.498 NA 45 128 7.88023e-25 1.34668e-24 0.00361 1 0 CPXM2 119587 broad.mit.edu 37 10 125521438 125521438 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:125521438T>A uc001lhk.1 - 11 2052 c.1727A>T c.(1726-1728)CAG>CTG p.Q576L CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 576 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CTCCTCCTTCTGGAAGTCCTC 0.667 NA 19 38 0 0 0.006122 0 0 DOCK1 1793 broad.mit.edu 37 10 128830475 128830475 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr10:128830475G>C uc001ljt.2 + 18 1804 c.1740G>C c.(1738-1740)AAG>AAC p.K580N DOCK1_uc010qun.1_Missense_Mutation_p.K601N NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 580 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TGGAAGAAAAGGGCCACTCGG 0.557 NA 3 9 0 0 0.004672 0 0 LSP1 4046 broad.mit.edu 37 11 1904695 1904695 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:1904695C>A uc001lui.2 + 4 578 c.403C>A c.(403-405)CTG>ATG p.L135M LSP1_uc001luj.2_Missense_Mutation_p.L263M|LSP1_uc001luk.2_Missense_Mutation_p.L73M|LSP1_uc001lul.2_Missense_Mutation_p.L73M|LSP1_uc001lum.2_Missense_Mutation_p.L73M NM_002339 NP_002330 P33241 LSP1_HUMAN lymphocyte-specific protein 1 isoform 1 135 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity large_intestine(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) TGAAGTCCACCTGGAGGAGTT 0.607 NA 13 84 7.93312e-07 9.76004e-07 0.00245 1 0 TSPAN32 10077 broad.mit.edu 37 11 2337896 2337896 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:2337896C>A uc001lvy.1 + 8 855 c.718C>A c.(718-720)CGA>AGA p.R240R TSPAN32_uc010qxk.1_3'UTR|TSPAN32_uc009ydl.1_RNA|TSPAN32_uc001lvz.1_Silent_p.R210R|TSPAN32_uc001lwb.1_Missense_Mutation_p.R210S|TSPAN32_uc001lwc.1_Silent_p.R185R|TSPAN32_uc001lwd.1_Silent_p.R172R NM_139022 NP_620591 Q96QS1 TSN32_HUMAN tumor-suppressing subtransferable candidate 6 240 cell-cell signaling integral to membrane p.R240*(1) central_nervous_system(1) 1 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CCTGACCCCACGGTAGGGCCC 0.657 NA 15 49 0.000566183 0.000627564 0.00499 1 0 OR52B4 143496 broad.mit.edu 37 11 4389468 4389468 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:4389468G>A uc010qye.1 - 1 58 c.58C>T c.(58-60)CCT>TCT p.P20S NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 20 Extracellular (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) TGTAGGCCAGGGATGCCCAGC 0.512 NA 13 26 0 0 0.004007 0 0 OR51F2 119694 broad.mit.edu 37 11 4842710 4842710 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:4842710C>A uc010qyn.1 + 1 95 c.95C>A c.(94-96)CCA>CAA p.P32Q NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 32 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGGCATTCCAGGCCTGAAA 0.473 NA 69 183 1.42676e-28 2.48114e-28 0.00361 1 0 MMP26 56547 broad.mit.edu 37 11 5011855 5011855 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:5011855G>A uc001lzv.2 + 3 366 c.348G>A c.(346-348)AAG>AAA p.K116K NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN matrix metalloproteinase 26 preproprotein 116 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) ATGATATGAAGCCATCCGCAG 0.388 NA 20 68 0 0 0.010504 0 0 OR6A2 8590 broad.mit.edu 37 11 6816036 6816036 + Missense_Mutation SNP C C A rs146813493 byFrequency TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:6816036C>A uc001mes.1 - 1 1104 c.904G>T c.(904-906)GTC>TTC p.V302F NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCTCTCTTGACCTCTTGATTG 0.473 NA 27 93 8.24728e-16 1.2736e-15 0.004656 1 0 OVCH2 341277 broad.mit.edu 37 11 7716867 7716867 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:7716867C>A uc010rbf.1 - 12 1216 c.1216G>T c.(1216-1218)GAT>TAT p.D406Y NM_198185 NP_937828 ovochymase 2 precursor 0 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) TCTGTGGCATCAGAGACGAAT 0.264 NA 11 48 0.00829132 0.00889105 0.008291 1 0 INSC 387755 broad.mit.edu 37 11 15260554 15260554 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:15260554G>T uc001mly.2 + 11 1514 c.1468G>T c.(1468-1470)GCT>TCT p.A490S INSC_uc001mlz.2_Missense_Mutation_p.A443S|INSC_uc001mma.2_Missense_Mutation_p.A443S|INSC_uc010rcs.1_Missense_Mutation_p.A478S|INSC_uc001mmb.2_Missense_Mutation_p.A443S|INSC_uc001mmc.2_Missense_Mutation_p.A401S NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 490 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 CCAGCAGAAAGCTGCAGTGAC 0.602 NA 15 45 8.28177e-16 1.27561e-15 0.007413 1 0 HPS5 11234 broad.mit.edu 37 11 18301447 18301447 + Silent SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:18301447G>C uc001mod.1 - 23 3650 c.3372C>G c.(3370-3372)CTC>CTG p.L1124L HPS5_uc001moe.1_Silent_p.L1010L|HPS5_uc001mof.1_Silent_p.L1010L NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 1124 cytosol ovary(1)|pancreas(1)|skin(1) 3 GCTGGGACCAGAGAAACCGAT 0.403 NA Hermansky-Pudlak_syndrome 14 47 0 0 0.003163 0 0 LDHA 3939 broad.mit.edu 37 11 18425271 18425271 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:18425271G>C uc001mok.3 + 6 895 c.623G>C c.(622-624)GGT>GCT p.G208A LDHA_uc010rdc.1_Missense_Mutation_p.G150A|LDHA_uc009yhn.2_Missense_Mutation_p.G207A|LDHA_uc009yho.2_Missense_Mutation_p.G35A|LDHA_uc001mol.3_Missense_Mutation_p.G208A|LDHA_uc010rdd.1_Missense_Mutation_p.G237A NM_005566 NP_005557 P00338 LDHA_HUMAN lactate dehydrogenase A isoform 1 208 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3) 3 NADH(DB00157) AATGTTGCTGGTGTCTCTCTG 0.378 NA 3 201 0 0 0.009096 0 0 NELL1 4745 broad.mit.edu 37 11 21592424 21592424 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:21592424G>T uc001mqe.2 + 18 2248 c.2095G>T c.(2095-2097)GGT>TGT p.G699C NELL1_uc001mqf.2_Missense_Mutation_p.G652C|NELL1_uc009yid.2_Missense_Mutation_p.G727C|NELL1_uc010rdo.1_Missense_Mutation_p.G642C|NELL1_uc010rdp.1_Missense_Mutation_p.G412C|NELL1_uc001mqh.2_Missense_Mutation_p.G244C NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 699 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 AGACCAAAATGGTCACAAGCT 0.473 NA 32 59 9.65021e-13 1.38561e-12 0.002096 1 0 KCNA4 3739 broad.mit.edu 37 11 30033978 30033978 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:30033978C>T uc001msk.2 - 2 1400 c.248G>A c.(247-249)CGG>CAG p.R83Q NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 83 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCTCCTCCTCCGACTACCCCG 0.637 NA 28 80 0 0 0.005443 0 0 KCNA4 3739 broad.mit.edu 37 11 30034116 30034116 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:30034116C>A uc001msk.2 - 2 1262 c.110G>T c.(109-111)AGG>ATG p.R37M NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 37 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGCAGCTGCCCTGGAGTGAGC 0.667 NA 14 45 1.40151e-16 2.18135e-16 0.010504 1 0 MPPED2 744 broad.mit.edu 37 11 30433103 30433103 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:30433103G>A uc001msr.2 - 6 917 c.797C>T c.(796-798)ACG>ATG p.T266M MPPED2_uc001msq.3_Intron|MPPED2_uc009yji.2_Missense_Mutation_p.T140M NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 266 nervous system development hydrolase activity|metal ion binding skin(1) 1 ATTGATGTACGTTGTGTAACC 0.463 NA 19 41 0 0 0.010504 0 0 MPPED2 744 broad.mit.edu 37 11 30435814 30435814 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:30435814C>A uc001msr.2 - 5 847 c.727G>T c.(727-729)GTC>TTC p.V243F MPPED2_uc001msq.3_Missense_Mutation_p.V243F|MPPED2_uc009yji.2_Missense_Mutation_p.V117F NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 243 nervous system development hydrolase activity|metal ion binding skin(1) 1 TTGGGCCGGACTCGCCTCTGA 0.473 NA 8 53 1.12685e-05 1.31281e-05 0.004482 1 0 OR4C46 119749 broad.mit.edu 37 11 51515976 51515976 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:51515976A>T uc010ric.1 + 1 695 c.695A>T c.(694-696)CAC>CTC p.H232L NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAGGCAAGGCACAAAGCCCTC 0.483 NA 30 56 0 0 0.002096 0 0 OR5F1 338674 broad.mit.edu 37 11 55761670 55761670 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:55761670C>A uc010riv.1 - 1 432 c.432G>T c.(430-432)ATG>ATT p.M144I NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 144 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CCCCGGCTGCCATTTTTAGGT 0.498 NA 18 31 6.49762e-13 9.37491e-13 0.006122 1 0 OR8J1 219477 broad.mit.edu 37 11 56128508 56128508 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:56128508C>A uc010rjh.1 + 1 786 c.786C>A c.(784-786)CCC>CCA p.P262P NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATGTGCAGCCCCGAAGTAACC 0.408 NA 24 84 1.13719e-10 1.54668e-10 0.008361 1 0 OR5M8 219484 broad.mit.edu 37 11 56258462 56258462 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:56258462G>T uc001nix.1 - 1 385 c.385C>A c.(385-387)CTG>ATG p.L129M NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) CCATAAAGCAGAGGGTTGCAG 0.517 NA 18 51 1.85244e-09 2.43569e-09 0.00333 1 0 OR5M10 390167 broad.mit.edu 37 11 56344907 56344907 + Nonsense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:56344907G>T uc001niz.1 - 1 291 c.291C>A c.(289-291)TGC>TGA p.C97* NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACTGTGTGAAGCATCCAGCGT 0.443 NA 24 69 1.64293e-13 2.40558e-13 0.00333 1 0 OR9Q1 219956 broad.mit.edu 37 11 57947485 57947485 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:57947485G>T uc001nmj.2 + 3 885 c.569G>T c.(568-570)GGG>GTG p.G190V NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) TTGACCTGTGGGGAGAGCTAC 0.463 NA 32 116 1.08312e-15 1.65966e-15 0.009535 1 0 OR10W1 81341 broad.mit.edu 37 11 58034677 58034677 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:58034677C>G uc001nmq.1 - 1 1056 c.654G>C c.(652-654)AAG>AAC p.K218N NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 218 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) CCGAGTGGATCTTGAGCAGAG 0.572 NA 13 27 0 0 0.003163 0 0 DTX4 23220 broad.mit.edu 37 11 58949495 58949495 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:58949495A>T uc001nns.2 + 2 752 c.495A>T c.(493-495)ACA>ACT p.T165T DTX4_uc001nnr.2_Silent_p.T59T NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 165 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) CCATGGTCACAGGGACCTTGC 0.637 NA 21 68 0 0 0.002299 0 0 LRRC32 2615 broad.mit.edu 37 11 76371973 76371973 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:76371973C>A uc001oxq.3 - 3 907 c.664G>T c.(664-666)GTG>TTG p.V222L LRRC32_uc001oxr.3_Missense_Mutation_p.V222L|LRRC32_uc010rsf.1_Missense_Mutation_p.V222L NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 222 LRR 8.|Extracellular (Potential). integral to plasma membrane 0 AGGTCTAGCACCCGCAGCTGC 0.622 NA 28 60 3.62531e-18 5.79463e-18 0.004289 1 0 PCF11 51585 broad.mit.edu 37 11 82879556 82879556 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:82879556G>C uc001ozx.3 + 8 2524 c.2179G>C c.(2179-2181)GAT>CAT p.D727H PCF11_uc010rsu.1_Missense_Mutation_p.D858H NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 727 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 ACCATTTGTAGATAGTCCAGC 0.428 NA 24 43 0 0 0.00278 0 0 MMP3 4314 broad.mit.edu 37 11 102713485 102713485 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:102713485G>A uc001phj.1 - 2 333 c.268C>T c.(268-270)CCC>TCC p.P90S NM_002422 NP_002413 P08254 MMP3_HUMAN matrix metalloproteinase 3 preproprotein 90 Cysteine switch (By similarity). collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) CCACACCTGGGCTTGCGCATC 0.512 NA 9 8 0 0 0.004482 0 0 DLAT 1737 broad.mit.edu 37 11 111896296 111896296 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:111896296G>A uc001pmo.2 + 1 759 c.100G>A c.(100-102)GTG>ATG p.V34M DLAT_uc009yyk.1_Missense_Mutation_p.V34M|DLAT_uc010rwr.1_Missense_Mutation_p.V34M NM_001931 NP_001922 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase precursor 34 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding 0 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) AACTCCACGAGTGACCTCGCG 0.682 NA 9 35 0 0 0.006214 0 0 USP28 57646 broad.mit.edu 37 11 113699991 113699991 + Nonsense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:113699991A>T uc001poh.2 - 10 1020 c.987T>A c.(985-987)TGT>TGA p.C329* USP28_uc001pog.2_Nonsense_Mutation_p.C37*|USP28_uc010rwy.1_Nonsense_Mutation_p.C204*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.C329* NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 329 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CCCCTTCCAAACACTCGTCTA 0.468 Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 18 41 0 0 0.006122 0 0 SIDT2 51092 broad.mit.edu 37 11 117058369 117058369 + Silent SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:117058369T>A uc001pqh.1 + 12 1154 c.1113T>A c.(1111-1113)GGT>GGA p.G371G SIDT2_uc010rxe.1_Silent_p.G371G|SIDT2_uc001pqg.2_Silent_p.G371G|SIDT2_uc001pqi.1_Silent_p.G375G NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 371 Cytoplasmic (Potential). integral to membrane|lysosomal membrane 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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) CTACCGATGGTCTGGTTGACA 0.612 NA 31 72 0 0 0.00623 0 0 OR6X1 390260 broad.mit.edu 37 11 123624331 123624331 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:123624331A>G uc010rzy.1 - 1 896 c.896T>C c.(895-897)TTA>TCA p.L299S NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGCCTTTCTTAAGGCTCCCTT 0.378 NA 58 117 0 0 0.00361 0 0 OR8B4 283162 broad.mit.edu 37 11 124294273 124294273 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:124294273C>A uc010sak.1 - 1 495 c.495G>T c.(493-495)CTG>CTT p.L165L NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CACAGAAGGTCAGTCGCAGCA 0.532 NA 14 19 2.31682e-05 2.67291e-05 0.003163 1 0 KIRREL3 84623 broad.mit.edu 37 11 126316711 126316711 + Nonsense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:126316711G>T uc001qea.2 - 9 1429 c.1068C>A c.(1066-1068)TGC>TGA p.C356* KIRREL3_uc001qeb.2_Nonsense_Mutation_p.C356*|KIRREL3_uc001qec.1_Nonsense_Mutation_p.C356* NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 356 Extracellular (Potential).|Ig-like C2-type 4. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) CGGTCCAGGCGCAGCTGAAGA 0.627 NA 3 5 0.004672 0.00501901 0.004672 1 0 ARHGAP32 9743 broad.mit.edu 37 11 128842434 128842434 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:128842434G>A uc009zcp.2 - 21 3925 c.3925C>T c.(3925-3927)CCG>TCG p.P1309S ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.P268S|ARHGAP32_uc001qez.2_Missense_Mutation_p.P960S NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1309 Poly-Pro. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 TGGGAAGGCGGAGGGGGAAGG 0.537 NA 35 80 0 0 0.004289 0 0 KCNA1 3736 broad.mit.edu 37 12 5021590 5021590 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:5021590C>A uc001qnh.2 + 2 2151 c.1046C>A c.(1045-1047)GCG>GAG p.A349E NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 349 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTTGCCGAGGCGGAAGAAGCT 0.532 NA 80 238 6.00396e-56 1.13749e-55 0.00361 1 0 CHD4 1108 broad.mit.edu 37 12 6709107 6709107 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:6709107C>A uc001qpo.2 - 10 1478 c.1314G>T c.(1312-1314)GGG>GGT p.G438G CHD4_uc001qpn.2_Silent_p.G431G|CHD4_uc001qpp.2_Silent_p.G435G NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 438 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 CGAGGTCTCCCCCAACCTCTT 0.522 Colon(32;586 792 4568 16848 45314) NA 137 379 1.35588e-38 2.48159e-38 0.00361 1 0 CD163 9332 broad.mit.edu 37 12 7647772 7647772 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:7647772C>A uc001qsz.3 - 6 1453 c.1325G>T c.(1324-1326)TGT>TTT p.C442F CD163_uc001qta.3_Missense_Mutation_p.C442F|CD163_uc009zfw.2_Missense_Mutation_p.C442F NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 442 SRCR 4.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 ATTTCCGTTACAGCTACTTAG 0.448 NA 68 170 2.18329e-32 3.84181e-32 0.00361 1 0 PZP 5858 broad.mit.edu 37 12 9333633 9333633 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:9333633A>T uc001qvl.2 - 15 1814 c.1785T>A c.(1783-1785)GCT>GCA p.A595A PZP_uc009zgl.2_Silent_p.A464A NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TTTGGTCCACAGCACGAAGGG 0.592 Melanoma(125;1402 1695 4685 34487 38571) NA 13 26 0 0 0.001855 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18491482 18491482 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:18491482G>T uc001rdt.2 + 9 1511 c.1395G>T c.(1393-1395)GAG>GAT p.E465D PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.E465D|PIK3C2G_uc010sic.1_Missense_Mutation_p.E243D NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 465 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) GAAAAGGAGAGGTAAGTACAT 0.299 NA 16 44 1.56452e-12 2.22485e-12 0.007413 1 0 CMAS 55907 broad.mit.edu 37 12 22208545 22208545 + Splice_Site SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:22208545G>T uc001rfm.2 + 3 638 c.559_splice c.e3+1 p.V187_splice CMAS_uc001rfn.2_Splice_Site NM_018686 NP_061156 Q8NFW8 NEUA_HUMAN cytidine monophospho-N-acetylneuraminic acid lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity ovary(1)|pancreas(1)|skin(1) 3 CAGAAAGGAGGTAATCTCTTT 0.343 NA 18 34 3.51602e-12 4.95249e-12 0.008871 1 0 OVCH1 341350 broad.mit.edu 37 12 29597135 29597135 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:29597135A>T uc001rix.1 - 24 2960 c.2960T>A c.(2959-2961)CTG>CAG p.L987Q NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 987 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGGCTTGGTCAGAAGAACATC 0.418 NA 24 66 0 0 0.002299 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30882156 30882156 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:30882156C>T uc001rji.1 - 8 1959 c.1208G>A c.(1207-1209)CGT>CAT p.R403H CAPRIN2_uc001rjf.1_Missense_Mutation_p.R200H|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R70H|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R403H|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R70H|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R403H|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R403H|CAPRIN2_uc001rjm.1_Missense_Mutation_p.R70H|CAPRIN2_uc001rjn.1_Missense_Mutation_p.R70H NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 403 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CATATCCCAACGTTTTGGGAG 0.443 NA 28 85 0 0 0.008361 0 0 KIF21A 55605 broad.mit.edu 37 12 39761735 39761735 + Nonsense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:39761735C>A uc001rly.2 - 4 696 c.550G>T c.(550-552)GGA>TGA p.G184* KIF21A_uc001rlx.2_Nonsense_Mutation_p.G184*|KIF21A_uc001rlz.2_Nonsense_Mutation_p.G184*|KIF21A_uc010skl.1_Nonsense_Mutation_p.G184*|KIF21A_uc001rma.1_Nonsense_Mutation_p.G184* NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 184 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) GTATAAATTCCTCCAGTTGAA 0.308 NA 21 46 7.16444e-05 8.12335e-05 0.003954 1 0 VDR 7421 broad.mit.edu 37 12 48238559 48238559 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:48238559C>A uc001rqm.2 - 11 1536 c.1254G>T c.(1252-1254)GTG>GTT p.V418V VDR_uc001rql.2_Silent_p.V468V|VDR_uc001rqn.2_Silent_p.V418V|VDR_uc010slq.1_Silent_p.V386V NM_001017535 NP_001017535 P11473 VDR_HUMAN vitamin D (1,25-dihydroxyvitamin D3) receptor 418 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) ACACTTCGAGCACAAGGGGCG 0.632 NA 31 94 4.31634e-10 5.80405e-10 0.002445 1 0 WNT1 7471 broad.mit.edu 37 12 49373354 49373354 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:49373354C>A uc001rsu.2 + 2 406 c.208C>A c.(208-210)CGT>AGT p.R70S NM_005430 NP_005421 P04628 WNT1_HUMAN wingless-type MMTV integration site family, 70 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding kidney(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.244) CAAACAGCGGCGTCTGATACG 0.592 NA 35 118 1.62957e-23 2.74527e-23 0.00874 1 0 KRT75 9119 broad.mit.edu 37 12 52827967 52827967 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:52827967G>T uc001saj.2 - 1 144 c.122C>A c.(121-123)GCA>GAA p.A41E NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 41 Gly-rich.|Head. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) ACTCCCTGCTGCAGAGCGGGC 0.667 NA 13 58 4.36969e-10 5.84927e-10 0.001855 1 0 KRT3 3850 broad.mit.edu 37 12 53189613 53189613 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:53189613C>A uc001say.2 - 1 280 c.214G>T c.(214-216)GCT>TCT p.A72S NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 72 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 GAGCCGCCAGCTGCCACGCTG 0.507 NA 35 101 4.01765e-15 6.09327e-15 0.009718 1 0 CSAD 51380 broad.mit.edu 37 12 53555112 53555112 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:53555112G>T uc001sby.2 - 10 890 c.764C>A c.(763-765)CCC>CAC p.P255H CSAD_uc001sbw.2_Missense_Mutation_p.P108H|CSAD_uc009zmt.2_Missense_Mutation_p.P37H|CSAD_uc010snx.1_Missense_Mutation_p.P282H|CSAD_uc001sbz.2_Missense_Mutation_p.P255H|CSAD_uc009zmu.2_Missense_Mutation_p.P108H|CSAD_uc001sca.3_RNA NM_015989 NP_057073 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 255 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity ovary(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TGCCTCCAGGGGGTCAAAGGC 0.587 Ovarian(109;252 1546 16882 28524 44645) NA Hereditary_Prostate_Cancer 5 202 0.00198382 0.00215854 0.001984 1 0 OR6C74 254783 broad.mit.edu 37 12 55641435 55641435 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:55641435G>T uc010spg.1 + 1 364 c.364G>T c.(364-366)GTG>TTG p.V122L NM_001005490 NP_001005490 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TGAGCGCTATGTGGCCATCTG 0.463 NA 57 137 2.67592e-24 4.55983e-24 0.00361 1 0 MON2 23041 broad.mit.edu 37 12 62929426 62929426 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:62929426C>T uc001sre.2 + 14 2228 c.1837C>T c.(1837-1839)CTG>TTG p.L613L MON2_uc009zqj.2_Silent_p.L613L|MON2_uc010ssl.1_Silent_p.L541L|MON2_uc010ssm.1_Intron|MON2_uc010ssn.1_Silent_p.L613L|MON2_uc001srf.2_Silent_p.L376L NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 613 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CAAAGGTTCCCTGCCTCCCCA 0.408 NA 27 70 0 0 0.003954 0 0 IRAK3 11213 broad.mit.edu 37 12 66620547 66620547 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:66620547A>T uc001sth.2 + 7 800 c.698A>T c.(697-699)GAG>GTG p.E233V IRAK3_uc010ssy.1_Missense_Mutation_p.E172V NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 233 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) TATTTTACAGAGACTGAGAAG 0.348 NA 20 70 0 0 0.00278 0 0 PTPRR 5801 broad.mit.edu 37 12 71054802 71054802 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:71054802G>T uc001swi.1 - 12 2100 c.1684C>A c.(1684-1686)CAG>AAG p.Q562K PTPRR_uc001swf.1_RNA|PTPRR_uc001swg.1_RNA|PTPRR_uc001swh.1_Missense_Mutation_p.Q317K|PTPRR_uc009zrs.2_Missense_Mutation_p.Q411K|PTPRR_uc010stq.1_Missense_Mutation_p.Q450K|PTPRR_uc010str.1_3'UTR NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 562 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AGGAGGGGCTGGGCACTGTCT 0.532 NA 8 21 1.12685e-05 1.31281e-05 0.004482 1 0 BBS10 79738 broad.mit.edu 37 12 76740022 76740022 + Silent SNP C C G rs150530553 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:76740022C>G uc001syd.1 - 2 1827 c.1743G>C c.(1741-1743)CCG>CCC p.P581P NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 581 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding ovary(1)|skin(1) 2 TACCCATATTCGGTAACTTAC 0.373 NA Bardet-Biedl_syndrome 19 53 0 0 0.007413 0 0 SYT1 6857 broad.mit.edu 37 12 79679716 79679716 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:79679716G>T uc001sys.2 + 6 987 c.316G>T c.(316-318)GAT>TAT p.D106Y SYT1_uc001syt.2_Missense_Mutation_p.D106Y|SYT1_uc001syu.2_Missense_Mutation_p.D106Y|SYT1_uc001syv.2_Missense_Mutation_p.D106Y NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 106 Cytoplasmic (Potential). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 TAACATGAAAGATGTAAAAGA 0.303 NA 15 24 8.60227e-14 1.26894e-13 0.004007 1 0 PLXNC1 10154 broad.mit.edu 37 12 94613897 94613897 + Silent SNP C C A rs146510015 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:94613897C>A uc001tdc.2 + 6 1909 c.1660C>A c.(1660-1662)CGG>AGG p.R554R NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 554 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 TCAGCCCAACCGGACCTGCAC 0.458 NA 47 118 5.34276e-22 8.84987e-22 0.00361 1 0 ELK3 2004 broad.mit.edu 37 12 96653534 96653534 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:96653534C>T uc001teo.1 + 4 1307 c.1028C>T c.(1027-1029)CCG>CTG p.P343L NM_005230 NP_005221 P41970 ELK3_HUMAN ELK3 protein 343 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 all_cancers(2;0.00173) CTTCTGACTCCGAGTCCACTG 0.527 NA 8 147 0 0 0.004482 0 0 UBE3B 89910 broad.mit.edu 37 12 109936051 109936051 + Missense_Mutation SNP T T C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:109936051T>C uc001top.2 + 11 1436 c.833T>C c.(832-834)TTA>TCA p.L278S UBE3B_uc001toq.2_Missense_Mutation_p.L278S|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.L278S NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 278 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 CTCACTGTTTTAGAATCCCAT 0.413 NA 61 134 0 0 0.00361 0 0 NOS1 4842 broad.mit.edu 37 12 117715825 117715825 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:117715825C>T uc001twm.1 - 9 2289 c.1603G>A c.(1603-1605)GAC>AAC p.D535N NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 535 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGCTCAGGGTCATTGCCGTTG 0.602 Esophageal Squamous(162;1748 2599 51982 52956) NA 5 94 0 0 0.001984 0 0 RSRC2 65117 broad.mit.edu 37 12 122990163 122990164 + Nonsense_Mutation DNP GA GA AG TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:122990163_122990164GA>AG uc001ucr.2 - 10 1361_1362 c.1215_1216TC>CT c.(1213-1218)GCTCAG>GCCTAG p.Q406* RSRC2_uc001uco.2_Nonsense_Mutation_p.Q175*|RSRC2_uc001ucp.2_Nonsense_Mutation_p.Q347*|RSRC2_uc001ucq.2_Nonsense_Mutation_p.Q174*|RSRC2_uc001ucs.2_Nonsense_Mutation_p.Q175*|RSRC2_uc001uct.2_Nonsense_Mutation_p.Q358*|RSRC2_uc001ucu.2_Nonsense_Mutation_p.Q407* NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 406 ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) ATTTCATACTGAGCATCTAAAT 0.396 NA 43 99 0 0 0.004672 0 0 KNTC1 9735 broad.mit.edu 37 12 123041966 123041966 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:123041966G>T uc001ucv.2 + 17 1471 c.1308G>T c.(1306-1308)GAG>GAT p.E436D KNTC1_uc010taf.1_Missense_Mutation_p.E399D NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 436 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) ATATATTGGAGAAACTGGCAT 0.383 NA 16 36 2.31682e-05 2.67291e-05 0.003163 1 0 MMP17 4326 broad.mit.edu 37 12 132335487 132335487 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:132335487C>T uc001ujc.1 + 10 1579 c.1480C>T c.(1480-1482)CGT>TGT p.R494C MMP17_uc001ujd.1_Missense_Mutation_p.R410C NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 494 Hemopexin-like 4. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CTACTTCTTCCGTGGCCAGGA 0.657 NA 11 33 0 0 0.001855 0 0 EP400NL 347918 broad.mit.edu 37 12 132610920 132610920 + Splice_Site SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:132610920G>T uc001ujx.1 + 7 c.1827_splice c.e7-1 Homo sapiens cDNA FLJ33915 fis, clone CTONG2016658. 0 TCATATTTCAGTTGCAAAAGA 0.358 NA 6 7 0.00116845 0.00127839 0.001168 1 0 MTUS2 23281 broad.mit.edu 37 13 30066847 30066847 + Silent SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr13:30066847G>C uc001usl.3 + 10 3658 c.3600G>C c.(3598-3600)CTG>CTC p.L1200L MTUS2_uc001usm.3_Silent_p.L169L|MTUS2_uc010aau.2_Silent_p.L79L NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 1190 Potential. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AACTGCGGCTGTCATTGCAGG 0.308 NA 14 48 0 0 0.003163 0 0 ITM2B 9445 broad.mit.edu 37 13 48835306 48835306 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr13:48835306C>T uc001vbz.3 + 6 970 c.747C>T c.(745-747)TTC>TTT p.F249F NM_021999 NP_068839 Q9Y287 ITM2B_HUMAN integral membrane protein 2B 249 Lumenal (Potential). nervous system development Golgi membrane|integral to membrane|nucleus|plasma membrane beta-amyloid binding 0 all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;1.97e-06) GCAATTGTTTCGCAATTCGGC 0.274 NA 4 41 0 0 0.009096 0 0 NALCN 259232 broad.mit.edu 37 13 101997748 101997748 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr13:101997748G>T uc001vox.1 - 7 857 c.668C>A c.(667-669)GCT>GAT p.A223D NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.A223D|NALCN_uc001vpa.2_Missense_Mutation_p.A223D NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 223 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTCTGGAATAGCTAAACTATT 0.398 NA 18 53 2.35188e-11 3.25097e-11 0.006122 1 0 ITGBL1 9358 broad.mit.edu 37 13 102367988 102367988 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr13:102367988G>C uc001vpb.2 + 11 1688 c.1469G>C c.(1468-1470)GGC>GCC p.G490A ITGBL1_uc010agb.2_Missense_Mutation_p.G441A|ITGBL1_uc001vpc.3_Missense_Mutation_p.G349A NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 490 X.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATCTGGCTTGGCTCAGAATAT 0.383 NA 49 141 0 0 0.00361 0 0 COL4A2 1284 broad.mit.edu 37 13 111130348 111130348 + Splice_Site SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr13:111130348A>G uc001vqx.2 + 30 2715 c.2426_splice c.e30-2 p.G809_splice NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TGATTCCTGCAGGAAGCCAAG 0.547 NA 13 64 0 0 0.001855 0 0 RASA3 22821 broad.mit.edu 37 13 114762162 114762162 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr13:114762162G>C uc001vui.2 - 21 2117 c.1986C>G c.(1984-1986)TGC>TGG p.C662W RASA3_uc010tkk.1_Missense_Mutation_p.C630W|RASA3_uc001vuj.2_Missense_Mutation_p.C279W NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 662 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TGGCCTCCACGCAGTTGTTGG 0.607 NA 25 93 0 0 0.003954 0 0 POTEG 404785 broad.mit.edu 37 14 19553769 19553769 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:19553769G>T uc001vuz.1 + 1 405 c.353G>T c.(352-354)GGC>GTC p.G118V POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 118 ovary(1) 1 AGCAAAGTGGGCCCTTGGGGA 0.597 NA 65 652 3.29585e-21 5.38414e-21 0.00361 1 0 OR11H6 122748 broad.mit.edu 37 14 20692109 20692109 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:20692109C>A uc010tlc.1 + 1 241 c.241C>A c.(241-243)CTG>ATG p.L81M NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 81 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) GTACATCCTTCTGGGAAACTT 0.463 NA 35 76 3.67414e-24 6.24288e-24 0.002445 1 0 C14orf93 60686 broad.mit.edu 37 14 23468201 23468201 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:23468201G>A uc001wib.1 - 2 342 c.32C>T c.(31-33)CCT>CTT p.P11L C14orf93_uc001wic.1_Intron|C14orf93_uc001wid.1_Missense_Mutation_p.P11L|C14orf93_uc001wig.2_Missense_Mutation_p.P11L|C14orf93_uc001wih.2_Missense_Mutation_p.P11L|C14orf93_uc001wie.2_Missense_Mutation_p.P11L|C14orf93_uc001wia.3_Missense_Mutation_p.P11L|C14orf93_uc001wif.2_Intron NM_021944 NP_068763 Q9H972 CN093_HUMAN hypothetical protein LOC60686 precursor 11 extracellular region ovary(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) GCCACTGGGAGGGGAGAAGAG 0.592 NA 28 105 0 0 0.002096 0 0 C14orf93 60686 broad.mit.edu 37 14 23468206 23468206 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:23468206G>A uc001wib.1 - 2 337 c.27C>T c.(25-27)TTC>TTT p.F9F C14orf93_uc001wic.1_Intron|C14orf93_uc001wid.1_Silent_p.F9F|C14orf93_uc001wig.2_Silent_p.F9F|C14orf93_uc001wih.2_Silent_p.F9F|C14orf93_uc001wie.2_Silent_p.F9F|C14orf93_uc001wia.3_Silent_p.F9F|C14orf93_uc001wif.2_Intron NM_021944 NP_068763 Q9H972 CN093_HUMAN hypothetical protein LOC60686 precursor 9 extracellular region ovary(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) TGGGAGGGGAGAAGAGAATGG 0.587 NA 29 109 0 0 0.002445 0 0 LRFN5 145581 broad.mit.edu 37 14 42356354 42356354 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:42356354C>A uc001wvm.2 + 3 1724 c.526C>A c.(526-528)CTT>ATT p.L176I LRFN5_uc010ana.2_Missense_Mutation_p.L176I NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 176 Extracellular (Potential).|LRR 6. 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) CTTGCATACCCTTAGTTTGGA 0.408 NA HNSCC(30;0.082) 8 39 0.00307968 0.0033265 0.00308 1 0 FSCB 84075 broad.mit.edu 37 14 44974151 44974151 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:44974151A>T uc001wvn.2 - 1 2349 c.2040T>A c.(2038-2040)GCT>GCA p.A680A NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 680 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) ACTGAACTTCAGCAGGGGCCT 0.612 NA 15 36 0 0 0.003163 0 0 FSCB 84075 broad.mit.edu 37 14 44976031 44976031 + Nonsense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:44976031C>A uc001wvn.2 - 1 469 c.160G>T c.(160-162)GAG>TAG p.E54* NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 54 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TGCTGAAGCTCAGAAGATACT 0.413 NA 47 173 9.58827e-17 1.50419e-16 0.00361 1 0 C14orf106 55320 broad.mit.edu 37 14 45711253 45711253 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:45711253C>A uc001wwf.2 - 4 1586 c.1127G>T c.(1126-1128)GGA>GTA p.G376V C14orf106_uc010anh.2_RNA NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 376 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 TTTTTTAAGTCCATTTGTAAC 0.318 Ovarian(187;620 2054 7273 12043 20532) NA 23 69 4.16121e-05 4.73627e-05 0.00278 1 0 CDKL1 8814 broad.mit.edu 37 14 50801307 50801307 + Silent SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:50801307A>G uc001wxz.2 - 7 802 c.774T>C c.(772-774)TCT>TCC p.S258S ATP5S_uc010ant.1_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 257 Protein kinase. cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) GGGCAGGATAAGAGATGTTTG 0.378 NA 83 239 0 0 0.00361 0 0 RTN1 6252 broad.mit.edu 37 14 60072161 60072161 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:60072161C>A uc001xen.1 - 5 2246 c.2037G>T c.(2035-2037)CTG>CTT p.L679L RTN1_uc001xem.1_Silent_p.L259L|RTN1_uc001xek.1_Silent_p.L111L|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.L96L NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 679 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CGTAGAACTGCAGGCAGTCCG 0.473 NA 29 77 7.01153e-11 9.62463e-11 0.007291 1 0 GPHN 10243 broad.mit.edu 37 14 67579829 67579829 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:67579829G>T uc001xiy.2 + 15 2589 c.1468G>T c.(1468-1470)GTC>TTC p.V490F GPHN_uc001xix.2_Missense_Mutation_p.V523F|GPHN_uc010tss.1_Missense_Mutation_p.V536F|GPHN_uc010tst.1_Missense_Mutation_p.V459F|GPHN_uc010tsu.1_Missense_Mutation_p.V413F NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN gephyrin isoform 2 490 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity ovary(2) 2 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) AACTGTAGGTGTCACAGAGGT 0.468 NA T MLL AL 8 76 1.26484e-09 1.67423e-09 0.00308 1 0 SIPA1L1 26037 broad.mit.edu 37 14 72165754 72165754 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:72165754C>T uc001xms.2 + 11 3779 c.3431C>T c.(3430-3432)TCC>TTC p.S1144F SIPA1L1_uc001xmt.2_Missense_Mutation_p.S1144F|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S1144F|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S1144F|SIPA1L1_uc010ttm.1_Missense_Mutation_p.S619F NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1144 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TTAGCAAGATCCCAGTGTCGG 0.488 NA 44 129 0 0 0.00874 0 0 SERPINA9 327657 broad.mit.edu 37 14 94931156 94931156 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:94931156G>A uc001ydf.2 - 4 1153 c.992C>T c.(991-993)TCT>TTT p.S331F SERPINA9_uc001yde.2_Missense_Mutation_p.S231F|SERPINA9_uc010avc.2_Missense_Mutation_p.S182F|SERPINA9_uc001ydg.2_Missense_Mutation_p.S295F|SERPINA9_uc001ydh.1_Missense_Mutation_p.S331F|SERPINA9_uc001ydi.1_Missense_Mutation_p.S295F NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 313 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GTAGGAGGCAGAAATGGAAAA 0.463 NA 33 82 0 0 0.003271 0 0 SERPINA12 145264 broad.mit.edu 37 14 94962881 94962881 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:94962881C>T uc001ydj.2 - 4 1530 c.734G>A c.(733-735)GGC>GAC p.G245D NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 245 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) TTGGTATATGCCACTACGGAA 0.438 NA 5 221 0 0 0.000602 0 0 C15orf2 23742 broad.mit.edu 37 15 24921921 24921921 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:24921921C>A uc001ywo.2 + 1 1381 c.907C>A c.(907-909)CCT>ACT p.P303T NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 303 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AAAGAGGATGCCTGATGAGAA 0.572 NA 25 77 1.64293e-13 2.40558e-13 0.00333 1 0 GABRA5 2558 broad.mit.edu 37 15 27185175 27185175 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:27185175G>T uc001zbd.1 + 10 1167 c.828G>T c.(826-828)CAG>CAT p.Q276H GABRB3_uc001zbb.2_5'Flank NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 276 Helical; (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCTTATCACAGGTGTCCTTTT 0.493 NA 10 44 4.68919e-08 5.97998e-08 0.008291 1 0 OCA2 4948 broad.mit.edu 37 15 28230275 28230275 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:28230275C>A uc001zbh.3 - 13 1409 c.1299G>T c.(1297-1299)GCG>GCT p.A433A OCA2_uc010ayv.2_Silent_p.A409A NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 433 Helical; (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGAGGACGGCCGCGATGAGAC 0.602 NA Oculocutaneous_Albinism 22 34 8.10497e-08 1.02261e-07 0.010504 1 0 C15orf55 256646 broad.mit.edu 37 15 34640257 34640257 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:34640257C>A uc001zif.2 + 2 259 c.104C>A c.(103-105)TCT>TAT p.S35Y C15orf55_uc010ucc.1_Missense_Mutation_p.S63Y|C15orf55_uc010ucd.1_Missense_Mutation_p.S53Y NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 35 Pro-rich. cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CCACCAACTTCTGACCCACCA 0.572 NA T BRD3|BRD4 lethal midline carcinoma 54 136 9.22156e-22 1.52323e-21 0.00361 1 0 GATM 2628 broad.mit.edu 37 15 45654417 45654417 + Missense_Mutation SNP T T C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:45654417T>C uc001zvc.2 - 9 1491 c.1162A>G c.(1162-1164)ATC>GTC p.I388V GATM_uc001zvb.2_Missense_Mutation_p.I259V NM_001482 NP_001473 P50440 GATM_HUMAN L-arginine:glycine amidinotransferase precursor 388 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding 0 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) ATGGTAGTGATACCTGCATTG 0.478 NA 8 19 0 0 0.00308 0 0 TCF12 6938 broad.mit.edu 37 15 57212142 57212142 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:57212142A>T uc002aec.2 + 2 315 c.31A>T c.(31-33)ATA>TTA p.I11L ZNF280D_uc002adw.1_5'Flank|TCF12_uc010ugm.1_Missense_Mutation_p.I63L|TCF12_uc010ugn.1_Missense_Mutation_p.I11L|TCF12_uc002aea.2_Missense_Mutation_p.I11L|TCF12_uc010bfs.2_5'UTR|TCF12_uc002aeb.2_Missense_Mutation_p.I11L|TCF12_uc002aed.2_Missense_Mutation_p.I11L|LOC145783_uc002adz.1_5'Flank NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 11 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CATGGCCGCTATAGGGACCGA 0.532 NA T TEC extraskeletal myxoid chondrosarcoma 21 56 0 0 0.010504 0 0 AQP9 366 broad.mit.edu 37 15 58465266 58465266 + Splice_Site SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:58465266G>T uc002aez.2 + 3 596 c.239_splice c.e3-1 p.G80_splice ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Splice_Site_p.G15_splice NM_020980 NP_066190 O43315 AQP9_HUMAN aquaporin 9 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity ovary(1) 1 GBM - Glioblastoma multiforme(80;0.16) TTCCCTTGCAGGTGGTCACAT 0.463 NA 95 224 2.01602e-52 3.78323e-52 0.00361 1 0 HERC1 8925 broad.mit.edu 37 15 64067496 64067496 + Silent SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:64067496T>A uc002amp.2 - 2 475 c.327A>T c.(325-327)GTA>GTT p.V109V HERC1_uc010uil.1_Silent_p.V109V|HERC1_uc010bgt.1_Silent_p.V109V|HERC1_uc002amq.1_Silent_p.V109V NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 109 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 CACGCTGGAGTACAAGCAGTC 0.473 NA 33 75 0 0 0.002445 0 0 LRRC49 54839 broad.mit.edu 37 15 71305143 71305143 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:71305143G>C uc002asw.2 + 14 1841 c.1594G>C c.(1594-1596)GTG>CTG p.V532L LRRC49_uc002asu.2_Missense_Mutation_p.V522L|LRRC49_uc002asx.2_Missense_Mutation_p.V488L|LRRC49_uc010ukf.1_Missense_Mutation_p.V537L|LRRC49_uc002asy.2_Missense_Mutation_p.V238L|LRRC49_uc002asz.2_Missense_Mutation_p.V504L NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 532 cytoplasm|microtubule ovary(1) 1 GTCTCTTCAGGTGACACAGAA 0.373 NA 10 26 0 0 0.008291 0 0 SEMA7A 8482 broad.mit.edu 37 15 74707191 74707191 + Silent SNP C C T rs147975982 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:74707191C>T uc002axv.2 - 9 1123 c.1083G>A c.(1081-1083)CCG>CCA p.P361P SEMA7A_uc010ulk.1_Silent_p.P196P|SEMA7A_uc010ull.1_Silent_p.P347P NM_003612 NP_003603 O75326 SEM7A_HUMAN semaphorin 7A isoform 1 preproprotein 361 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(1)|central_nervous_system(1) 2 TGCCAGGCCGCGGGTTGGGAA 0.627 NA 10 73 0 0 0.008291 0 0 C15orf26 161502 broad.mit.edu 37 15 81436103 81436103 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:81436103G>T uc002bgb.2 + 5 605 c.578G>T c.(577-579)TGG>TTG p.W193L C15orf26_uc010blp.1_Missense_Mutation_p.W168L NM_173528 NP_775799 Q6P656 CO026_HUMAN hypothetical protein LOC161502 193 0 GTGAACTGCTGGCAGGCTGCC 0.537 NA 82 194 1.7488e-33 3.1236e-33 0.00361 1 0 NTRK3 4916 broad.mit.edu 37 15 88472600 88472600 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr15:88472600C>A uc002bme.1 - 16 2117 c.1955G>T c.(1954-1956)GGG>GTG p.G652V NTRK3_uc002bmh.2_Missense_Mutation_p.G644V|NTRK3_uc002bmf.1_Missense_Mutation_p.G652V|NTRK3_uc010upl.1_Missense_Mutation_p.G554V|NTRK3_uc010bnh.1_Missense_Mutation_p.G644V NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 652 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) TTGGGAGAGCCCCAGCTCACC 0.612 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 15 38 0.00400662 0.00431987 0.004007 1 0 CACNA1H 8912 broad.mit.edu 37 16 1262039 1262039 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:1262039G>T uc002cks.2 + 25 4908 c.4660G>T c.(4660-4662)GTG>TTG p.V1554L CACNA1H_uc002ckt.2_Missense_Mutation_p.V1554L|CACNA1H_uc002cku.2_Missense_Mutation_p.V260L|CACNA1H_uc010brj.2_Missense_Mutation_p.V260L|CACNA1H_uc002ckv.2_Missense_Mutation_p.V260L NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1554 Helical; Name=S6 of repeat III; (Potential).|III. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CGTGGGCGTCGTGGTCGAGAA 0.632 NA 64 205 2.18329e-32 3.84181e-32 0.00361 1 0 BAIAP3 8938 broad.mit.edu 37 16 1396022 1396022 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:1396022G>T uc002clk.1 + 24 2349 c.2349G>T c.(2347-2349)CTG>CTT p.L783L BAIAP3_uc002clj.2_Silent_p.L765L|BAIAP3_uc010uuz.1_Silent_p.L748L|BAIAP3_uc010uva.1_Silent_p.L720L|BAIAP3_uc010uvc.1_Silent_p.L712L NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 783 MHD1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) ATACGGAGCTGCTTCGGAAGA 0.682 NA 7 33 0.000157383 0.000176091 0.00308 1 0 RPL3L 6123 broad.mit.edu 37 16 2002992 2002992 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:2002992G>T uc002cnh.2 - 3 295 c.248C>A c.(247-249)CCC>CAC p.P83H NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 83 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 CACCACTAGGGGCGGCGTTTC 0.607 NA 18 71 0.00047179 0.000523916 0.00333 1 0 SRRM2 23524 broad.mit.edu 37 16 2818263 2818263 + Splice_Site SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:2818263G>T uc002crk.2 + 11 8282 c.7733_splice c.e11+1 p.R2578_splice NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CACTGAAGAGGTGAGGGAGCT 0.458 NA 31 59 6.00712e-18 9.57587e-18 0.002445 1 0 CPPED1 55313 broad.mit.edu 37 16 12758931 12758931 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:12758931C>A uc002dca.3 - 4 868 c.757G>T c.(757-759)GGG>TGG p.G253W CPPED1_uc002dcb.3_Missense_Mutation_p.G111W|CPPED1_uc002dbz.3_RNA NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 253 hydrolase activity|metal ion binding 0 TAGGTACCCCCGGCATTCCTG 0.582 NA 40 38 6.2361e-21 1.01594e-20 0.007835 1 0 THUMPD1 55623 broad.mit.edu 37 16 20748250 20748250 + Silent SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:20748250T>A uc002dho.2 - 4 1152 c.1014A>T c.(1012-1014)GCA>GCT p.A338A THUMPD1_uc010vaz.1_Silent_p.A191A|THUMPD1_uc002dhp.2_Silent_p.A338A NM_017736 NP_060206 Q9NXG2 THUM1_HUMAN THUMP domain containing 1 338 0 TGGCTTGACTTGCAAGTTCAG 0.393 NA 24 57 0 0 0.007291 0 0 Unknown 0 broad.mit.edu 37 16 21854852 21854852 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:21854852C>T uc002djr.3 - 6 582 c.400G>A c.(400-402)GGA>AGA p.G134R uc002djs.3_RNA|uc002djq.3_Missense_Mutation_p.G115R|uc010vbn.1_Missense_Mutation_p.G134R NM_130464 NP_569731 nuclear pore complex interacting protein-like 3 NA ATTTTATTTCCTCGAAAGGAA 0.423 NA 42 566 0 0 0.002852 0 0 EEF2K 29904 broad.mit.edu 37 16 22268069 22268069 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:22268069G>T uc002dki.2 + 7 1104 c.619G>T c.(619-621)GTG>TTG p.V207L EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 207 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) ATCCCACCAGGTGGACATCAT 0.542 NSCLC(195;1411 2157 20319 27471 51856) NA 9 47 3.86212e-05 4.4043e-05 0.008291 1 0 USP31 57478 broad.mit.edu 37 16 23093759 23093759 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:23093759C>A uc002dll.2 - 12 1950 c.1950G>T c.(1948-1950)CAG>CAT p.Q650H USP31_uc010bxm.2_Translation_Start_Site NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 650 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) ATTTCCATACCTGCCGAAATC 0.468 NA 24 111 4.59853e-10 6.12793e-10 0.005443 1 0 IL4R 3566 broad.mit.edu 37 16 27374034 27374034 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:27374034A>T uc002don.2 + 11 1603 c.1361A>T c.(1360-1362)AAG>ATG p.K454M IL4R_uc002dop.3_Missense_Mutation_p.K439M|IL4R_uc010bxy.2_Missense_Mutation_p.K454M|IL4R_uc002doo.2_Missense_Mutation_p.K294M NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 454 Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 GCAGGGCCCAAGGAGGCACCT 0.617 NA 50 92 0 0 0.00361 0 0 LONP2 83752 broad.mit.edu 37 16 48303941 48303941 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:48303941A>T uc002efi.1 + 7 1086 c.997A>T c.(997-999)AGG>TGG p.R333W LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.R289W NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 333 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 CCTGGACATTAGGGCAGCCCG 0.383 NA 22 97 0 0 0.004656 0 0 CHD9 80205 broad.mit.edu 37 16 53358160 53358160 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:53358160C>G uc002ehb.2 + 38 8211 c.8047C>G c.(8047-8049)CAG>GAG p.Q2683E CHD9_uc002egy.2_Missense_Mutation_p.Q2667E|CHD9_uc002ehc.2_Missense_Mutation_p.Q2668E|CHD9_uc002ehf.2_Missense_Mutation_p.Q1781E|CHD9_uc010cbw.2_Missense_Mutation_p.Q749E NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2683 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) ACAAAACTTGCAGTCACTGCA 0.488 NA 3 72 0 0 0.004672 0 0 ESRP2 80004 broad.mit.edu 37 16 68265245 68265245 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:68265245G>A uc010cfa.1 - 12 1765 c.1577C>T c.(1576-1578)ACA>ATA p.T526I ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.T516I NM_024939 NP_079215 Q9H6T0 ESRP2_HUMAN RNA binding motif protein 35B 526 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding ovary(1) 1 CTCTGCTGATGTCATCTGAAT 0.562 NA 33 37 0 0 0.002096 0 0 FTSJD1 55783 broad.mit.edu 37 16 71318653 71318653 + Nonsense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:71318653C>A uc010cga.2 - 3 1577 c.1171G>T c.(1171-1173)GAA>TAA p.E391* FTSJD1_uc002ezy.3_Nonsense_Mutation_p.E391*|FTSJD1_uc002ezz.3_Nonsense_Mutation_p.E391* NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 391 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 TTCAGCTTTTCTTGTTCCGCC 0.313 NA 5 13 0.000602214 0.000662548 0.000602 1 0 ZNF23 7571 broad.mit.edu 37 16 71482343 71482343 + Nonsense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:71482343C>A uc002faf.2 - 6 2399 c.1585G>T c.(1585-1587)GAG>TAG p.E529* ZNF23_uc002fad.2_Nonsense_Mutation_p.E471*|ZNF23_uc002fae.2_Nonsense_Mutation_p.E471*|ZNF23_uc010vmf.1_Nonsense_Mutation_p.E471*|ZNF23_uc002fag.2_Nonsense_Mutation_p.E471*|ZNF23_uc002fah.2_Nonsense_Mutation_p.E529*|ZNF23_uc002fai.2_Nonsense_Mutation_p.E568* NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) AAAGGTTTCTCCCCAGTATGT 0.418 NA 31 56 1.13719e-10 1.54668e-10 0.008361 1 0 CHST4 10164 broad.mit.edu 37 16 71571552 71571552 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:71571552C>A uc002fan.2 + 2 1153 c.972C>A c.(970-972)GCC>GCA p.A324A CHST4_uc002fao.2_Silent_p.A324A NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 324 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 ACACAAATGCCAGGGATGCCC 0.522 NA OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 29 1.3612e-06 1.66776e-06 0.003163 1 0 MBTPS1 8720 broad.mit.edu 37 16 84103628 84103628 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:84103628C>G uc002fhi.2 - 14 2300 c.1798G>C c.(1798-1800)GAA>CAA p.E600Q MBTPS1_uc002fhh.2_Missense_Mutation_p.E104Q NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 600 Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 GAAGTCTGTTCTGCACCATTT 0.393 NA 55 114 0 0 0.00361 0 0 WDR81 124997 broad.mit.edu 37 17 1640949 1640949 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:1640949A>T uc002fti.2 + 10 2376 c.2115A>T c.(2113-2115)TCA>TCT p.S705S WDR81_uc002fth.2_Silent_p.S881S|WDR81_uc010vqp.1_Silent_p.S729S|WDR81_uc002ftj.2_Silent_p.S1932S|WDR81_uc010vqq.1_Silent_p.S563S NM_001163811 NP_001157283 Q562E7 WDR81_HUMAN WD repeat domain 81 isoform 4 705 skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGCTGGGCTCAGACAACGGGG 0.652 NA 22 35 0 0 0.005443 0 0 MYH1 4619 broad.mit.edu 37 17 10397739 10397739 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:10397739T>A uc002gmo.2 - 39 5693 c.5599A>T c.(5599-5601)AGG>TGG p.R1867W uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1867 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 TCCTGGAGCCTGAGAATATTC 0.393 NA 50 158 0 0 0.00361 0 0 MYO15A 51168 broad.mit.edu 37 17 18023924 18023924 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:18023924G>A uc010vxh.1 + 2 2148 c.1810G>A c.(1810-1812)GAG>AAG p.E604K NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 604 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TGCTGTCAGGGAGGCGGCCTA 0.697 NA 4 4 0 0 0.001168 0 0 GIT1 28964 broad.mit.edu 37 17 27910597 27910597 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:27910597C>A uc002hef.2 - 2 304 c.90G>T c.(88-90)GTG>GTT p.V30V GIT1_uc002heg.2_Silent_p.V30V|GIT1_uc010wbg.1_Silent_p.V30V|GIT1_uc010csb.1_Silent_p.V30V NM_014030 NP_054749 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interactor 1 30 Arf-GAP.|C4-type. regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding 0 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) ACTCGTCACACACCAGCACAC 0.572 Colon(81;41 1719 20078 35068) NA 7 17 8.12818e-05 9.16352e-05 0.001984 1 0 CCT6B 10693 broad.mit.edu 37 17 33266313 33266313 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:33266313T>A uc002hig.2 - 10 1196 c.1102A>T c.(1102-1104)AAC>TAC p.N368Y CCT6B_uc010ctg.2_Missense_Mutation_p.N331Y|CCT6B_uc010wcc.1_Missense_Mutation_p.N323Y NM_006584 NP_006575 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B 368 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding pancreas(1) 1 Ovarian(249;0.17) GAGCAAGGGTTAACACACTCC 0.343 NA 35 99 0 0 0.003755 0 0 SLFN11 91607 broad.mit.edu 37 17 33687261 33687261 + Splice_Site SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:33687261C>A uc010ctp.2 - 5 1640 c.1198_splice c.e5+1 p.V400_splice SLFN11_uc010ctq.2_Splice_Site_p.V400_splice|SLFN11_uc002hjh.3_Splice_Site_p.V400_splice|SLFN11_uc002hjg.3_Splice_Site_p.V400_splice|SLFN11_uc010ctr.2_Splice_Site_p.V400_splice NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACCATAATTACCTGAAAATAA 0.393 NA 10 52 4.68919e-08 5.97998e-08 0.008291 1 0 LYZL6 57151 broad.mit.edu 37 17 34264778 34264778 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:34264778G>A uc002hkj.1 - 2 432 c.282C>T c.(280-282)TGC>TGT p.C94C LYZL6_uc002hkk.1_Silent_p.C94C NM_020426 NP_065159 O75951 LYZL6_HUMAN lysozyme-like 6 precursor 94 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGTCTACGTGGCAAAGGTTTT 0.512 NA 4 109 0 0 0.009096 0 0 HDAC5 10014 broad.mit.edu 37 17 42168703 42168703 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:42168703T>A uc002ifd.1 - 11 1533 c.1322A>T c.(1321-1323)CAT>CTT p.H441L HDAC5_uc002ife.1_Missense_Mutation_p.H441L|HDAC5_uc002iff.1_Missense_Mutation_p.H442L|HDAC5_uc010czp.1_Missense_Mutation_p.H441L|HDAC5_uc002ifh.2_Missense_Mutation_p.H441L NM_005474 NP_005465 Q9UQL6 HDAC5_HUMAN histone deacetylase 5 isoform 1 441 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding ovary(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) CAGGGAGGCATGCCCGTGGGG 0.662 NA 6 23 0 0 0.00308 0 0 FMNL1 752 broad.mit.edu 37 17 43320574 43320574 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:43320574C>A uc002iin.2 + 17 2300 c.2100C>A c.(2098-2100)GCC>GCA p.A700A FMNL1_uc002iiq.2_Silent_p.A278A|FMNL1_uc010dag.2_RNA NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 700 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 GTAAGGCAGCCCAGAAGGCCC 0.597 GBM(164;1247 1997 8702 11086 51972) NA 57 149 6.09941e-20 9.90944e-20 0.00361 1 0 SKAP1 8631 broad.mit.edu 37 17 46247980 46247980 + Nonsense_Mutation SNP G G A rs142272724 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:46247980G>A uc002ini.1 - 10 980 c.868C>T c.(868-870)CGA>TGA p.R290* SKAP1_uc002inj.1_Nonsense_Mutation_p.R290*|SKAP1_uc010dbd.1_Nonsense_Mutation_p.R196*|SKAP1_uc010dbe.1_Nonsense_Mutation_p.R290* NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 isoform 290 Interaction with FYB. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding 0 CCTCCTTTTCGTCGAGTGCCA 0.408 NA 53 198 0 0 0.00361 0 0 CA10 56934 broad.mit.edu 37 17 49710885 49710885 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:49710885G>T uc002itw.3 - 8 1902 c.916C>A c.(916-918)CAG>AAG p.Q306K CA10_uc002itu.3_Missense_Mutation_p.Q235K|CA10_uc002itv.3_Missense_Mutation_p.Q312K|CA10_uc002itx.3_Missense_Mutation_p.Q306K|CA10_uc002ity.3_Missense_Mutation_p.Q306K|CA10_uc002itz.2_Missense_Mutation_p.Q306K NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 306 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TCCTTCCCCTGTAAACTGAAG 0.512 NA 28 76 1.08312e-15 1.65966e-15 0.009535 1 0 CA10 56934 broad.mit.edu 37 17 49731069 49731069 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:49731069A>T uc002itw.3 - 5 1480 c.494T>A c.(493-495)CTA>CAA p.L165Q CA10_uc002itu.3_Missense_Mutation_p.L94Q|CA10_uc002itv.3_Missense_Mutation_p.L171Q|CA10_uc002itx.3_Missense_Mutation_p.L165Q|CA10_uc002ity.3_Missense_Mutation_p.L165Q|CA10_uc002itz.2_Missense_Mutation_p.L165Q NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 165 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) ATTCGTATATAGCTCATGGTT 0.408 NA 29 80 0 0 0.008361 0 0 AKAP1 8165 broad.mit.edu 37 17 55193622 55193622 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:55193622G>C uc002iux.2 + 7 2663 c.2432G>C c.(2431-2433)AGG>ACG p.R811T AKAP1_uc010wnl.1_Missense_Mutation_p.R811T|AKAP1_uc010dcm.2_Missense_Mutation_p.R811T NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor 811 Tudor. blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) CGGCAAATCAGGTGAGCGGAG 0.572 NA 26 101 0 0 0.004656 0 0 MKS1 54903 broad.mit.edu 37 17 56294052 56294052 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:56294052C>A uc002ivr.1 - 3 311 c.236G>T c.(235-237)GGG>GTG p.G79V MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Missense_Mutation_p.G79V NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Meckel syndrome type 1 protein isoform 1 79 cilium assembly centrosome|cilium|microtubule basal body protein binding ovary(1) 1 CTCCTGCCACCCAATCACAAT 0.453 NA 7 41 0.000274275 0.00030515 0.004482 1 0 CLTC 1213 broad.mit.edu 37 17 57743971 57743971 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:57743971G>T uc002ixq.1 + 12 2356 c.1913G>T c.(1912-1914)CGT>CTT p.R638L CLTC_uc002ixp.2_Missense_Mutation_p.R638L|CLTC_uc002ixr.1_Missense_Mutation_p.R642L NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 638 Heavy chain arm. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GATATAAAACGTGCAGTGGTT 0.388 NA T ALK|TFE3 ALCL|renal 3 47 6.4e-05 7.2705e-05 0.004672 1 0 SDK2 54549 broad.mit.edu 37 17 71397871 71397871 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:71397871G>A uc010dfm.2 - 20 2701 c.2701C>T c.(2701-2703)CTG>TTG p.L901L SDK2_uc002jjt.3_Silent_p.L60L|SDK2_uc010dfn.2_Silent_p.L580L NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 901 Fibronectin type-III 4.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 CTGAAGCTCAGGTGTCCCACG 0.577 NA 5 5 0 0 0.000602 0 0 UNK 85451 broad.mit.edu 37 17 73780812 73780812 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:73780812G>A uc002jpm.2 + 2 79 c.79G>A c.(79-81)GAC>AAC p.D27N UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 Error:Variant_position_missing_in_Q9C0B0_after_alignment nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) ATTCCAGCCGGACATAGAACC 0.647 NA 5 41 0 0 0.001984 0 0 UNK 85451 broad.mit.edu 37 17 73780814 73780814 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:73780814C>A uc002jpm.2 + 2 81 c.81C>A c.(79-81)GAC>GAA p.D27E UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 Error:Variant_position_missing_in_Q9C0B0_after_alignment nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCAGCCGGACATAGAACCAC 0.642 NA 5 41 3.59834e-05 4.1273e-05 0.001168 1 0 UBE2O 63893 broad.mit.edu 37 17 74395027 74395027 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:74395027C>T uc002jrm.3 - 10 1739 c.1674G>A c.(1672-1674)ATG>ATA p.M558I UBE2O_uc002jrn.3_Missense_Mutation_p.M558I|UBE2O_uc002jrl.3_Missense_Mutation_p.M161I NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 558 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 CATCCTGCCACATCACGTCGG 0.622 NA 11 57 0 0 0.002445 0 0 SMCHD1 23347 broad.mit.edu 37 18 2698038 2698038 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr18:2698038A>T uc002klm.3 + 10 1530 c.1341A>T c.(1339-1341)TCA>TCT p.S447S SMCHD1_uc002klk.3_5'Flank NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 447 chromosome organization ATP binding 0 GCTTTCCATCAAGTATGTTAA 0.333 NA 3 8 0 0 0.004672 0 0 LAMA1 284217 broad.mit.edu 37 18 7015801 7015801 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr18:7015801A>T uc002knm.2 - 22 3140 c.3046T>A c.(3046-3048)TGC>AGC p.C1016S LAMA1_uc010wzj.1_Missense_Mutation_p.C492S NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1016 Laminin EGF-like 11. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAGGGGGGCAGACACACTCT 0.552 NA 36 126 0 0 0.005524 0 0 FAM59A 64762 broad.mit.edu 37 18 29867330 29867330 + Silent SNP C C A rs146498252 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr18:29867330C>A uc002kxl.2 - 4 1286 c.1230G>T c.(1228-1230)GGG>GGT p.G410G FAM59A_uc002kxk.1_Silent_p.G410G NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 410 ovary(1)|skin(1) 2 CCCAATCTCCCCCCAGGTCCC 0.537 NA 27 102 7.92952e-12 1.10901e-11 0.003954 1 0 SLC14A2 8170 broad.mit.edu 37 18 43217060 43217060 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr18:43217060C>T uc010dnj.2 + 7 1077 c.756C>T c.(754-756)GGC>GGT p.G252G SLC14A2_uc002lbb.2_Silent_p.G252G|SLC14A2_uc002lbe.2_Silent_p.G252G NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 252 Helical; (Potential). apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 CAGCCACAGGCCACTACAACC 0.512 NA 81 111 0 0 0.00361 0 0 DCC 1630 broad.mit.edu 37 18 50923679 50923679 + Nonsense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr18:50923679C>A uc002lfe.1 + 18 3277 c.2690C>A c.(2689-2691)TCA>TAA p.S897* DCC_uc010xdr.1_Nonsense_Mutation_p.S725*|DCC_uc010dpf.1_Nonsense_Mutation_p.S532* NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 897 Extracellular (Potential).|Fibronectin type-III 5. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTTGTATAGTCAGAAGACACA 0.328 NA 10 28 1.58986e-06 1.92799e-06 0.008291 1 0 CDH7 1005 broad.mit.edu 37 18 63547735 63547735 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr18:63547735G>T uc002ljz.2 + 12 2288 c.1963G>T c.(1963-1965)GAC>TAC p.D655Y CDH7_uc002lkb.2_Missense_Mutation_p.D655Y NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 655 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) GAGATACGATGACGAGGGCGG 0.493 NA 20 58 7.45023e-12 1.04444e-11 0.010504 1 0 ZNF516 9658 broad.mit.edu 37 18 74154334 74154334 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr18:74154334G>A uc010dqx.1 - 2 912 c.677C>T c.(676-678)GCG>GTG p.A226V ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GGGCCCCTGCGCGGTGATGTG 0.697 NA 11 31 0 0 0.001368 0 0 GALR1 2587 broad.mit.edu 37 18 74963084 74963085 + Missense_Mutation DNP CC CC AA TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr18:74963084_74963085CC>AA uc002lms.3 + 1 1077_1078 c.580_581CC>AA c.(580-582)CCT>AAT p.P194N NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 194 Extracellular (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GTGGCCCGACCCTCGCCACAAG 0.663 NA 27 115 0 0 0.004672 0 0 LPPR3 79948 broad.mit.edu 37 19 814479 814479 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:814479G>T uc002lpx.1 - 7 850 c.786C>A c.(784-786)GAC>GAA p.D262E LPPR3_uc010dru.1_Missense_Mutation_p.D174E|LPPR3_uc002lpw.1_Missense_Mutation_p.D290E|LPPR3_uc002lpy.1_Missense_Mutation_p.D43E NM_024888 NP_079164 Q6T4P5 LPPR3_HUMAN plasticity-related protein 2 262 integral to membrane phosphatidate phosphatase activity 0 CGGCATACACGTCCACAGGGT 0.657 NA 10 28 1.08611e-07 1.36454e-07 0.000978 1 0 MIDN 90007 broad.mit.edu 37 19 1254919 1254919 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:1254919A>T uc002lrp.2 + 6 1230 c.715A>T c.(715-717)ACG>TCG p.T239S NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 239 nucleolus 0 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)|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)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCTCCCCCACGGCCAGCAG 0.667 NA 46 135 0 0 0.00361 0 0 MUC16 94025 broad.mit.edu 37 19 9012894 9012894 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:9012894A>T uc002mkp.2 - 34 38754 c.38550T>A c.(38548-38550)GCT>GCA p.A12850A MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12852 Extracellular (Potential). Missing (in Ref. 3; AAK74120). 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 GGAGAGGGCCAGCAGCTGTAG 0.463 NA 9 268 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 9063110 9063110 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:9063110C>G uc002mkp.2 - 3 24540 c.24336G>C c.(24334-24336)CAG>CAC p.Q8112H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8114 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 TTGGTTCTGTCTGAATTCTGC 0.498 NA 4 172 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9065905 9065905 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:9065905T>A uc002mkp.2 - 3 21745 c.21541A>T c.(21541-21543)ACA>TCA p.T7181S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7183 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 GACGCTGCTGTGTTTGTGGAA 0.493 NA 49 167 0 0 0.00361 0 0 MUC16 94025 broad.mit.edu 37 19 9071876 9071876 + Silent SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:9071876A>G uc002mkp.2 - 3 15774 c.15570T>C c.(15568-15570)CCT>CCC p.P5190P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5192 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 CTCTCAGTCTAGGAGTCAAGA 0.483 NA 129 328 0 0 0.00361 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025585 16025585 + Silent SNP G G T rs140718122 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:16025585G>T uc002nbu.2 - 10 1272 c.1236C>A c.(1234-1236)CGC>CGA p.R412R CYP4F11_uc010eab.1_Silent_p.R412R|CYP4F11_uc002nbt.2_Silent_p.R412R NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 412 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 TGGGGATGACGCGGCCGTCTG 0.632 NA 33 94 2.42023e-17 3.81701e-17 0.003271 1 0 UPF1 5976 broad.mit.edu 37 19 18968170 18968170 + Silent SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:18968170G>C uc002nkg.2 + 15 2318 c.2043G>C c.(2041-2043)GTG>GTC p.V681V UPF1_uc002nkf.2_Silent_p.V670V|UPF1_uc002nkh.2_5'Flank NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 681 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCCCAGTGGTGATGTGCAAGA 0.627 NA 26 107 0 0 0.00632 0 0 NDUFA13 51079 broad.mit.edu 37 19 19638158 19638159 + Missense_Mutation DNP GG GG TT TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:19638158_19638159GG>TT uc010xqy.1 + 3 750_751 c.491_492GG>TT c.(490-492)CGG>CTT p.R164L NDUFA13_uc002nms.2_Missense_Mutation_p.R164L|NDUFA13_uc010xqx.1_Missense_Mutation_p.R164L|YJEFN3_uc002nmt.1_5'Flank|YJEFN3_uc010ecf.1_5'Flank|YJEFN3_uc002nmu.1_5'Flank NM_015965 NP_057049 Q9P0J0 NDUAD_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 81 apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) GAAACCGACCGGAGGTAGCACC 0.634 NA 9 59 0 0 0.004672 0 0 RPSAP58 388524 broad.mit.edu 37 19 24010294 24010294 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:24010294C>G uc002nrn.2 + 4 754 c.331C>G c.(331-333)CAG>GAG p.Q111E NM_002295 NP_002286 ribosomal protein SA 0 CTTCACTAACCAGATCCAGGC 0.567 NA 4 54 0 0 0.009096 0 0 C19orf40 91442 broad.mit.edu 37 19 33464469 33464469 + Splice_Site SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:33464469G>A uc002nud.3 + 3 361 c.243_splice c.e3+1 p.N81_splice CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank NM_152266 NP_689479 Q9BTP7 FAP24_HUMAN Fanconi anemia-associated protein, 24 kDa DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding 0 Esophageal squamous(110;0.137) GGTTAGAAATGTAAGTATTAg 0.224 NA Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks 5 224 0 0 0.000602 0 0 GPATCH1 55094 broad.mit.edu 37 19 33588796 33588796 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:33588796A>G uc002nug.1 + 8 1302 c.988A>G c.(988-990)AAA>GAA p.K330E NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 330 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) CAGGCAGTATAAAAACCAGAA 0.507 Pancreas(67;88 1713 4567 18227) NA 34 126 0 0 0.00874 0 0 LRFN3 79414 broad.mit.edu 37 19 36430769 36430769 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:36430769G>T uc002oco.2 + 2 894 c.442G>T c.(442-444)GCC>TCC p.A148S NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III 148 LRR 4.|Extracellular (Potential). cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AGCGCTGGCGGCCGGCGCCCT 0.677 NA 12 30 1.52009e-12 2.16686e-12 0.003163 1 0 RYR1 6261 broad.mit.edu 37 19 38939385 38939385 + Missense_Mutation SNP T T G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:38939385T>G uc002oit.2 + 11 1184 c.1054T>G c.(1054-1056)TCA>GCA p.S352A RYR1_uc002oiu.2_Missense_Mutation_p.S352A NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 352 Cytoplasmic.|MIR 5. 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) GCATGTGGCCTCAGGACTGTG 0.547 NA 28 84 0 0 0.008361 0 0 ZNF780B 163131 broad.mit.edu 37 19 40541382 40541382 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:40541382G>C uc002omu.2 - 5 1449 c.1384C>G c.(1384-1386)CAA>GAA p.Q462E ZNF780B_uc002omv.2_Missense_Mutation_p.Q314E NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 462 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGGCAATGTTGAATAAGTTGG 0.378 NA 17 107 0 0 0.00499 0 0 CCDC8 83987 broad.mit.edu 37 19 46914764 46914764 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:46914764C>G uc002pep.2 - 1 2156 c.1304G>C c.(1303-1305)GGC>GCC p.G435A NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 435 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) TGCCCTCTGGCCAGCCCGGGC 0.597 NA 37 83 0 0 0.004878 0 0 GRLF1 2909 broad.mit.edu 37 19 47491246 47491246 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:47491246G>T uc010ekv.2 + 3 3827 c.3827G>T c.(3826-3828)GGA>GTA p.G1276V NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1276 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TTCTCCTCAGGACTGAGCACG 0.552 NA 12 29 0.00010058 0.000112962 0.001368 1 0 ELSPBP1 64100 broad.mit.edu 37 19 48519237 48519237 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:48519237G>T uc002pht.2 + 4 451 c.296G>T c.(295-297)TGG>TTG p.W99L NM_022142 NP_071425 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 precursor 99 Fibronectin type-II 2. single fertilization extracellular region 0 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) GGCAGTCTGTGGTGCTCAGTC 0.507 NA 31 91 1.62565e-12 2.30624e-12 0.002445 1 0 ZNF114 163071 broad.mit.edu 37 19 48790040 48790040 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:48790040C>T uc002pil.1 + 6 1656 c.1159C>T c.(1159-1161)CCC>TCC p.P387S ZNF114_uc010elv.1_Missense_Mutation_p.P387S|ZNF114_uc002pim.1_Missense_Mutation_p.P387S|ZNF114_uc002pin.2_Missense_Mutation_p.P353S NM_153608 NP_705836 Q8NC26 ZN114_HUMAN zinc finger protein 114 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) TGGAGAGAAACCCTATAAATG 0.408 NA 49 166 0 0 0.00361 0 0 CA11 770 broad.mit.edu 37 19 49142169 49142169 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:49142169G>T uc002pjz.1 - 8 1499 c.937C>A c.(937-939)CGA>AGA p.R313R SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank NM_001217 NP_001208 O75493 CAH11_HUMAN carbonic anhydrase XI precursor 313 extracellular region 0 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) TTGGGGCCTCGGCAGCGCCTC 0.637 NA 8 18 0.000157383 0.000176091 0.00308 1 0 FUT1 2523 broad.mit.edu 37 19 49253722 49253722 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:49253722C>A uc002pkk.2 - 4 1792 c.817G>T c.(817-819)GAC>TAC p.D273Y NM_000148 NP_000139 P19526 FUT1_HUMAN fucosyltransferase 1 273 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity ovary(1) 1 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) TGGGAGGTGTCGATGTTTTCT 0.587 NA 54 126 4.25531e-23 7.14845e-23 0.00361 1 0 SHANK1 50944 broad.mit.edu 37 19 51169662 51169662 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:51169662G>T uc002psx.1 - 22 5574 c.5555C>A c.(5554-5556)CCC>CAC p.P1852H SHANK1_uc002psw.1_Missense_Mutation_p.P1236H NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1852 Poly-Pro. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CAAGGGCCCGGGCAGAGGTGG 0.677 NA 12 40 3.07112e-06 3.64235e-06 0.000978 1 0 C19orf75 284369 broad.mit.edu 37 19 51768891 51768891 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:51768891C>A uc002pwb.1 + 3 673 c.292C>A c.(292-294)CTA>ATA p.L98I C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron NM_173635 NP_775906 Q8N7X8 CS075_HUMAN hypothetical protein LOC284369 98 integral to membrane ovary(1)|pancreas(1) 2 TTTGAGCATCCTACTGATGTC 0.537 NA 31 141 5.60225e-13 8.10277e-13 0.009535 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51918110 51918110 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:51918110C>A uc002pwo.2 - 8 2199 c.1583G>T c.(1582-1584)GGG>GTG p.G528V SIGLEC10_uc002pwp.2_Missense_Mutation_p.G470V|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Intron|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Intron NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 528 Extracellular (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) ACTCTGGGCCCCATGGACGTT 0.662 NA 47 174 1.86633e-21 3.06575e-21 0.00361 1 0 FPR2 2358 broad.mit.edu 37 19 52272906 52272906 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:52272906C>A uc002pxr.2 + 2 1040 c.995C>A c.(994-996)ACT>AAT p.T332N FPR2_uc002pxs.3_Missense_Mutation_p.T332N|FPR2_uc010epf.2_Missense_Mutation_p.T332N NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 332 Cytoplasmic (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity p.T332I(1) lung(3)|ovary(1) 4 TCAGCCCCAACTAATGACACG 0.537 NA 16 40 1.01871e-10 1.39193e-10 0.008871 1 0 ZNF28 7576 broad.mit.edu 37 19 53311270 53311270 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:53311270C>A uc002qad.2 - 3 252 c.132G>T c.(130-132)CTG>CTT p.L44L ZNF28_uc002qac.2_5'UTR|ZNF28_uc010eqe.2_Intron NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 44 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) CCAGGGAGACCAGGTTCCTAT 0.493 NA 47 156 1.00221e-16 1.56811e-16 0.00361 1 0 NLRP12 91662 broad.mit.edu 37 19 54304481 54304481 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:54304481C>A uc002qch.3 - 7 2976 c.2756G>T c.(2755-2757)CGG>CTG p.R919L NLRP12_uc010eqw.2_Missense_Mutation_p.R202L|NLRP12_uc002qci.3_Missense_Mutation_p.R919L|NLRP12_uc002qcj.3_Missense_Mutation_p.R920L|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 919 LRR 4. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CGGGACTCACCGCAGGGTCTG 0.617 NA 22 50 3.5997e-14 5.34993e-14 0.002299 1 0 CACNG7 59284 broad.mit.edu 37 19 54445373 54445373 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:54445373C>T uc002qcr.1 + 5 669 c.654C>T c.(652-654)CGC>CGT p.R218R NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 218 GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CCTTCTACCGCCCGCGTCTCA 0.687 NA 29 45 0 0 0.00632 0 0 LILRA1 11024 broad.mit.edu 37 19 55107393 55107393 + Silent SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:55107393G>C uc002qgh.1 + 6 1133 c.951G>C c.(949-951)CTG>CTC p.L317L LILRA2_uc010yfg.1_Silent_p.L315L|LILRA1_uc010yfh.1_Silent_p.L317L NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 317 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) TGGACATCCTGATCGCAGGTG 0.682 NA 20 68 0 0 0.00333 0 0 PTPRH 5794 broad.mit.edu 37 19 55693445 55693445 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:55693445A>T uc002qjq.2 - 19 3210 c.3137T>A c.(3136-3138)CTT>CAT p.L1046H PTPRH_uc010esv.2_Missense_Mutation_p.L868H|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1046 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GAAGGGCCCAAGGAGACCCTC 0.607 NA 63 181 0 0 0.00361 0 0 NLRP8 126205 broad.mit.edu 37 19 56459349 56459349 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:56459349G>T uc002qmh.2 + 1 152 c.81G>T c.(79-81)TGG>TGT p.W27C NLRP8_uc010etg.2_Missense_Mutation_p.W27C NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 27 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTCCGCCCTGGACATTCTCTT 0.512 NA 24 129 3.08376e-08 3.96675e-08 0.00333 1 0 ZNF835 90485 broad.mit.edu 37 19 57175089 57175089 + Missense_Mutation SNP T T C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:57175089T>C uc010ygo.1 - 2 1544 c.1544A>G c.(1543-1545)CAG>CGG p.Q515R ZNF835_uc010ygn.1_Missense_Mutation_p.Q493R NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 ATGCGTCCTCTGGTGTCGGAT 0.627 NA 63 246 0 0 0.00361 0 0 ZNF835 90485 broad.mit.edu 37 19 57175250 57175250 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:57175250C>T uc010ygo.1 - 2 1383 c.1383G>A c.(1381-1383)ACG>ACA p.T461T ZNF835_uc010ygn.1_Silent_p.T439T NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CGCCCGTGTGCGTGCGCTGGT 0.662 NA 17 92 0 0 0.004007 0 0 USP29 57663 broad.mit.edu 37 19 57641790 57641790 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:57641790C>A uc002qny.2 + 4 2103 c.1747C>A c.(1747-1749)CTG>ATG p.L583M NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 583 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCAATGAAGCTGACCTCAGA 0.483 NA 41 91 2.45108e-15 3.74611e-15 0.00874 1 0 ZNF264 9422 broad.mit.edu 37 19 57705360 57705360 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:57705360G>A uc002qob.2 + 2 564 c.151G>A c.(151-153)GTG>ATG p.V51M NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) TGGGCTCCTGGTGTCTCTGGG 0.587 NA 28 99 0 0 0.00632 0 0 ZNF135 7694 broad.mit.edu 37 19 58579298 58579298 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:58579298C>A uc010yhq.1 + 5 1578 c.1482C>A c.(1480-1482)ACC>ACA p.T494T ZNF135_uc002qre.2_Silent_p.T482T|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Silent_p.T440T|ZNF135_uc002qrg.2_Silent_p.T452T|ZNF135_uc010yhr.1_Silent_p.T303T NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 494 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CACACCTCACCCAACACCAGC 0.567 NA 25 65 1.26454e-06 1.55253e-06 0.005443 1 0 TTC15 51112 broad.mit.edu 37 2 3447625 3447625 + Missense_Mutation SNP T T C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:3447625T>C uc002qxm.1 + 6 1699 c.1493T>C c.(1492-1494)CTG>CCG p.L498P TTC15_uc002qxn.1_Missense_Mutation_p.L498P|TTC15_uc010ewm.1_Missense_Mutation_p.L498P NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 498 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) CAGGAGTCGCTGGATAGACTG 0.592 NA 12 32 0 0 0.001368 0 0 APOB 338 broad.mit.edu 37 2 21228213 21228213 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:21228213C>A uc002red.2 - 26 11655 c.11527G>T c.(11527-11529)GTA>TTA p.V3843L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3843 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGTTGGCTACTGCATTTAGA 0.453 NA 4 156 0.00909568 0.00973599 0.009096 1 0 KRTCAP3 200634 broad.mit.edu 37 2 27666044 27666044 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:27666044G>T uc002rks.2 + 4 394 c.377G>T c.(376-378)CGC>CTC p.R126L KRTCAP3_uc010ylr.1_Missense_Mutation_p.R126L|KRTCAP3_uc002rkt.2_Missense_Mutation_p.R108L NM_173853 NP_776252 Q53RY4 KCP3_HUMAN keratinocyte associated protein 3 126 integral to membrane 0 Acute lymphoblastic leukemia(172;0.155) AACGGTGGCCGCCGCCTTATT 0.607 NA 85 161 1.09326e-46 2.0323e-46 0.00361 1 0 ALK 238 broad.mit.edu 37 2 29551229 29551229 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:29551229C>A uc002rmy.2 - 6 2308 c.1401G>T c.(1399-1401)GAG>GAT p.E467D NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 467 LDL-receptor class A.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) ACATCTGGCTCTCATCTTCTC 0.597 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 27 71 6.38683e-12 8.97486e-12 0.008361 1 0 VIT 5212 broad.mit.edu 37 2 37000953 37000953 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:37000953C>T uc002rpl.2 + 8 920 c.699C>T c.(697-699)ACC>ACT p.T233T VIT_uc010ynf.1_Silent_p.T162T|VIT_uc002rpm.2_Silent_p.T226T|VIT_uc010ezv.2_Silent_p.T226T|VIT_uc010ezw.2_Silent_p.T226T NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 233 proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) CCACTGCCACCTACACAAGCA 0.363 NA 9 30 0 0 0.008291 0 0 EPCAM 4072 broad.mit.edu 37 2 47607038 47607038 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:47607038G>T uc002rvx.2 + 7 1146 c.788G>T c.(787-789)GGT>GTT p.G263V EPCAM_uc002rvw.2_Missense_Mutation_p.G291V NM_002354 NP_002345 P16422 EPCAM_HUMAN epithelial cell adhesion molecule precursor 263 Extracellular (Potential). positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding skin(1) 1 TCAATGCAGGGTCTAAAAgct 0.254 NA Lynch_syndrome 21 64 6.33239e-15 9.57935e-15 0.010504 1 0 ERLEC1 27248 broad.mit.edu 37 2 54045035 54045035 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:54045035G>A uc002rxl.2 + 14 1661 c.1381G>A c.(1381-1383)GTT>ATT p.V461I ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.V435I|ERLEC1_uc002rxn.2_Missense_Mutation_p.V407I NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN erlectin isoform 1 461 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding ovary(2) 2 TCTTCTTTAGGTTGAATCTCC 0.338 NA 9 48 0 0 0.004482 0 0 BMP10 27302 broad.mit.edu 37 2 69098254 69098254 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:69098254C>A uc002sez.1 - 1 396 c.237G>T c.(235-237)GTG>GTT p.V79V NM_014482 NP_055297 O95393 BMP10_HUMAN bone morphogenetic protein 10 preproprotein 79 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding ovary(2) 2 CTGGTGGGTCCACCTTGGCTG 0.468 NA 39 124 3.62531e-18 5.79463e-18 0.004289 1 0 TEX261 113419 broad.mit.edu 37 2 71216145 71216145 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:71216145G>A uc002shn.2 - 5 489 c.375C>T c.(373-375)GTC>GTT p.V125V TEX261_uc010fdy.2_Silent_p.V78V NM_144582 NP_653183 Q6UWH6 TX261_HUMAN testis expressed sequence 261 125 Helical; (Potential). integral to membrane 0 AATAGGCCAGGACCTGGCAAC 0.577 NA 5 32 0 0 0.000602 0 0 NMS 129521 broad.mit.edu 37 2 101093867 101093867 + Silent SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:101093867T>A uc002tan.1 + 5 259 c.252T>A c.(250-252)GTT>GTA p.V84V NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN neuromedin S precursor 84 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region ovary(1) 1 CACATCCAGTTAAAACTGGGG 0.368 NA 13 32 0 0 0.001855 0 0 IL1RL1 9173 broad.mit.edu 37 2 102964544 102964544 + Silent SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:102964544T>A uc002tbu.1 + 9 1381 c.1110T>A c.(1108-1110)ACT>ACA p.T370T IL18R1_uc002tbw.3_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 370 Cytoplasmic (Potential). innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 CTTACAAGACTAGGAATGGTA 0.383 NA 19 61 0 0 0.001882 0 0 LRP1B 53353 broad.mit.edu 37 2 141665515 141665515 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:141665515G>T uc002tvj.1 - 22 4423 c.3451C>A c.(3451-3453)CTG>ATG p.L1151M LRP1B_uc010fnl.1_Missense_Mutation_p.L333M NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1151 Extracellular (Potential).|LDL-receptor class A 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTGGCTGCAGGCAGACTGAG 0.453 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 25 66 1.66031e-10 2.24274e-10 0.003954 1 0 PABPC1P2 728773 broad.mit.edu 37 2 147345742 147345742 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:147345742G>T uc002twf.3 + 1 1118 c.202G>T c.(202-204)GCT>TCT p.A68S NR_026904 RecName: Full=Putative protein PABPC1-like; AltName: Full=Polyadenylate-binding protein pseudogene 2; 0 TCCACAGACAGCTATGGATGT 0.388 NA 12 34 4.36969e-10 5.84927e-10 0.001855 1 0 UPP2 151531 broad.mit.edu 37 2 158980311 158980311 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:158980311T>A uc002tzp.2 + 6 909 c.715T>A c.(715-717)TTA>ATA p.L239I UPP2_uc002tzo.2_Missense_Mutation_p.L296I NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 239 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 AGAAAAAAAGTTAGACTACTT 0.453 NA 40 82 0 0 0.005524 0 0 TTN 7273 broad.mit.edu 37 2 179398197 179398197 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:179398197A>G uc010zfg.1 - 307 95665 c.95441T>C c.(95440-95442)TTT>TCT p.F31814S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.F25509S|TTN_uc010zfi.1_Missense_Mutation_p.F25442S|TTN_uc010zfj.1_Missense_Mutation_p.F25317S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32741 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGATCTCAAAGCAGACACT 0.473 NA 19 35 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179629388 179629388 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:179629388C>A uc010zfg.1 - 42 10078 c.9854G>T c.(9853-9855)TGC>TTC p.C3285F TTN_uc010zfh.1_Missense_Mutation_p.C3239F|TTN_uc010zfi.1_Missense_Mutation_p.C3239F|TTN_uc010zfj.1_Missense_Mutation_p.C3239F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.C3285F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3285 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGAAATTTGCACTTGAAGCC 0.493 NA 62 103 2.89935e-36 5.24182e-36 0.00361 1 0 TTN 7273 broad.mit.edu 37 2 179642042 179642042 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:179642042C>A uc010zfg.1 - 27 4872 c.4648G>T c.(4648-4650)GTG>TTG p.V1550L TTN_uc010zfh.1_Missense_Mutation_p.V1504L|TTN_uc010zfi.1_Missense_Mutation_p.V1504L|TTN_uc010zfj.1_Missense_Mutation_p.V1504L|TTN_uc002unb.2_Missense_Mutation_p.V1550L|uc002unc.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1550 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATGTTCCACAGCTGAAAGA 0.348 NA 21 37 1.55795e-14 2.32711e-14 0.001882 1 0 COL3A1 1281 broad.mit.edu 37 2 189875383 189875383 + Missense_Mutation SNP G G T rs140646380 byFrequency TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:189875383G>T uc002uqj.1 + 50 4138 c.4021G>T c.(4021-4023)GGC>TGC p.G1341C NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1341 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GTTTAGCTACGGCAATCCTGA 0.408 NA 37 60 1.15505e-17 1.83631e-17 0.009718 1 0 STAT1 6772 broad.mit.edu 37 2 191841713 191841713 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:191841713C>T uc002usj.2 - 22 2300 c.1912G>A c.(1912-1914)GAA>AAA p.E638K STAT1_uc010fse.1_Missense_Mutation_p.E638K|STAT1_uc002usk.2_Missense_Mutation_p.E638K|STAT1_uc002usl.2_Missense_Mutation_p.E640K NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 638 SH2. activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GCAGAAAGTTCTTTCTTCGTG 0.398 NA 15 129 0 0 0.004007 0 0 MYO1B 4430 broad.mit.edu 37 2 192257838 192257838 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:192257838G>T uc010fsg.2 + 20 2371 c.2116G>T c.(2116-2118)GAC>TAC p.D706Y MYO1B_uc002usq.2_Missense_Mutation_p.D706Y|MYO1B_uc002usr.2_Missense_Mutation_p.D706Y|MYO1B_uc002usu.2_5'UTR NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 706 IQ 1. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) ACGCCTGGAGGACTTGGCCAC 0.428 NA 7 70 2.0095e-06 2.41221e-06 0.001984 1 0 PLCL1 5334 broad.mit.edu 37 2 198950213 198950213 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:198950213G>C uc010fsp.2 + 2 2263 c.1972G>C c.(1972-1974)GAC>CAC p.D658H PLCL1_uc002uuv.3_Missense_Mutation_p.D579H NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 658 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GAATCCACAGGACTTTTGGAA 0.413 NA 6 61 0 0 0.000978 0 0 AOX1 316 broad.mit.edu 37 2 201533401 201533401 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:201533401C>A uc002uvx.2 + 33 3774 c.3673C>A c.(3673-3675)CAG>AAG p.Q1225K AOX1_uc010zhf.1_Missense_Mutation_p.Q781K|AOX1_uc010fsu.2_Missense_Mutation_p.Q591K NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 1225 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTATTCTCCCCAGGGCATTCT 0.433 NA 67 127 5.05157e-50 9.44978e-50 0.00361 1 0 ALS2CR11 151254 broad.mit.edu 37 2 202436667 202436667 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:202436667A>G uc002uye.2 - 8 878 c.830T>C c.(829-831)GTG>GCG p.V277A ALS2CR11_uc002uyf.2_Missense_Mutation_p.V277A|ALS2CR11_uc010fti.2_Missense_Mutation_p.V277A NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 277 large_intestine(1)|ovary(1)|skin(1) 3 CACTTACGTCACGGGATCTGT 0.348 NA 20 37 0 0 0.002299 0 0 NDUFS1 4719 broad.mit.edu 37 2 207003266 207003266 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:207003266C>A uc002vbe.2 - 13 1462 c.1335G>T c.(1333-1335)CTG>CTT p.L445L NDUFS1_uc010ziq.1_Silent_p.L459L|NDUFS1_uc010zir.1_Silent_p.L409L|NDUFS1_uc010zis.1_Silent_p.L388L|NDUFS1_uc010zit.1_Silent_p.L334L|NDUFS1_uc010ziu.1_Silent_p.L329L NM_005006 NP_004997 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 445 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) GGGAGTCTCCCAGGTGGTCAT 0.408 NA 18 110 8.00594e-06 9.43841e-06 0.007413 1 0 ERBB4 2066 broad.mit.edu 37 2 212578346 212578346 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:212578346C>A uc002veg.1 - 8 1009 c.911G>T c.(910-912)TGT>TTT p.C304F ERBB4_uc002veh.1_Missense_Mutation_p.C304F|ERBB4_uc010zji.1_Missense_Mutation_p.C304F|ERBB4_uc010zjj.1_Missense_Mutation_p.C304F|ERBB4_uc010fut.1_Missense_Mutation_p.C304F NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 304 Cys-rich.|Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GGCACGCACACAAGAACTGGA 0.358 NA TSP Lung(8;0.080) 17 20 9.7654e-05 0.000109884 0.007413 1 0 FEV 54738 broad.mit.edu 37 2 219846816 219846816 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:219846816T>A uc002vji.1 - 3 872 c.290A>T c.(289-291)AAC>ATC p.N97I NM_017521 NP_059991 Q99581 FEV_HUMAN FEV (ETS oncogene family) 97 ETS. cell differentiation|nervous system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity EWSR1/FEV(10)|FUS/FEV(2) bone(10)|soft_tissue(2) 12 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTGTCGTAGTTCATGTTGGG 0.642 NSCLC(198;941 2228 4658 24163 34665) NA T EWSR1| FUS Ewing sarcoma 23 28 0 0 0.002299 0 0 NCL 4691 broad.mit.edu 37 2 232326670 232326670 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:232326670A>G uc002vru.2 - 3 335 c.194T>C c.(193-195)GTC>GCC p.V65A SNORD82_uc010fxw.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN nucleolin 65 1.|8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding ovary(2)|pancreas(1) 3 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) TGGGGAAACGACCACCTTCTT 0.493 NA 8 312 0 0 0.00308 0 0 ESPNL 339768 broad.mit.edu 37 2 239040032 239040032 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:239040032G>T uc002vxq.3 + 9 2787 c.2677G>T c.(2677-2679)GGC>TGC p.G893C ESPNL_uc010fyw.2_Missense_Mutation_p.G589C NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN espin-like 893 pancreas(1) 1 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GGGCACCCACGGCTGGGAGGC 0.697 NA 10 8 3.07112e-06 3.64235e-06 0.000978 1 0 TMC2 117532 broad.mit.edu 37 20 2597907 2597907 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:2597907G>A uc002wgf.1 + 16 2145 c.2130G>A c.(2128-2130)GTG>GTA p.V710V TMC2_uc002wgg.1_Silent_p.V694V NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 710 Helical; (Potential). integral to membrane ovary(3) 3 TCCTGCCGGTGGCCTACACCA 0.622 NA 15 44 0 0 0.00333 0 0 OXT 5020 broad.mit.edu 37 20 3052311 3052311 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:3052311C>A uc002wht.1 + 1 46 c.10C>A c.(10-12)CCC>ACC p.P4T NM_000915 NP_000906 P01178 NEU1_HUMAN oxytocin-neurophysin I preproprotein 4 signal transduction neurohypophyseal hormone activity 0 Oxytocin(DB00107) CATGGCCGGCCCCAGCCTCGC 0.692 NA 4 15 2.17888e-05 2.52852e-05 0.006214 1 0 FASTKD5 60493 broad.mit.edu 37 20 3128052 3128052 + Silent SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:3128052T>A uc002whz.2 - 2 1976 c.1665A>T c.(1663-1665)TCA>TCT p.S555S uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 555 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 ATTCAGGCTTTGAATTCATAT 0.458 NA 33 99 0 0 0.002096 0 0 C20orf194 25943 broad.mit.edu 37 20 3234371 3234371 + Splice_Site SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:3234371C>A uc002wii.2 - 36 3472 c.3421_splice c.e36+1 p.L1141_splice C20orf194_uc002wij.3_Splice_Site_p.L880_splice|C20orf194_uc002wik.2_Splice_Site_p.L815_splice NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 0 TCCAAGGATACGTGGGTGAAA 0.507 NA 35 96 3.62531e-18 5.79463e-18 0.004289 1 0 PANK2 80025 broad.mit.edu 37 20 3869922 3869922 + Nonsense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:3869922C>T uc002wkc.2 + 1 181 c.175C>T c.(175-177)CGA>TGA p.R59* uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank NM_153638 NP_705902 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 isoform 1 preproprotein 59 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding 0 CAATCCTCCTCGAGTTAGGGA 0.677 NA 7 17 0 0 0.00308 0 0 PLCB1 23236 broad.mit.edu 37 20 8862495 8862495 + Nonstop_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:8862495G>C uc002wnb.2 + 32 3653 c.3650G>C c.(3649-3651)TGA>TCA p.*1217S PLCB1_uc002wna.2_3'UTR NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 1217 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 ACTCCTCTGTGAATGCTCCTG 0.522 NA 17 56 0 0 0.004007 0 0 SLC24A3 57419 broad.mit.edu 37 20 19674054 19674054 + Nonsense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:19674054C>A uc002wrl.2 + 13 1673 c.1476C>A c.(1474-1476)TAC>TAA p.Y492* NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 492 Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 CCTTCTCCTACATGATGGTGT 0.488 NA 22 67 2.41591e-17 3.81701e-17 0.004656 1 0 ITCH 83737 broad.mit.edu 37 20 33067498 33067498 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:33067498A>T uc010geu.1 + 19 2037 c.1845A>T c.(1843-1845)GCA>GCT p.A615A ITCH_uc002xak.2_Silent_p.A574A|ITCH_uc010zuj.1_Silent_p.A464A NM_031483 NP_113671 Q96J02 ITCH_HUMAN itchy homolog E3 ubiquitin protein ligase 615 HECT. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity breast(4)|lung(1)|central_nervous_system(1) 6 TTGAATATGCAGGGAAGGATA 0.353 NA 30 56 0 0 0.008361 0 0 CHD6 84181 broad.mit.edu 37 20 40042045 40042045 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:40042045C>T uc002xka.1 - 35 7228 c.7050G>A c.(7048-7050)GAG>GAA p.E2350E CHD6_uc002xjz.1_5'UTR NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2350 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GAATGGATTTCTCGGCTTGGC 0.592 NA 6 35 0 0 0.00308 0 0 CHD6 84181 broad.mit.edu 37 20 40122580 40122580 + Missense_Mutation SNP T T C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:40122580T>C uc002xka.1 - 9 1275 c.1097A>G c.(1096-1098)GAT>GGT p.D366G CHD6_uc002xkd.2_Missense_Mutation_p.D344G NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 366 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CAAGTCTTCATCAGGCTAACA 0.488 NA 3 48 0 0 0.004672 0 0 MYBL2 4605 broad.mit.edu 37 20 42344627 42344627 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:42344627G>T uc002xlb.1 + 14 2218 c.2003G>T c.(2002-2004)TGC>TTC p.C668F MYBL2_uc010zwj.1_Missense_Mutation_p.C644F NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 668 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACGGTGGCCTGCGGGGGGACC 0.622 NA 9 405 5.4927e-09 7.15862e-09 0.004482 1 0 TOX2 84969 broad.mit.edu 37 20 42695474 42695474 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:42695474G>T uc002xlf.3 + 7 1424 c.1407G>T c.(1405-1407)GGG>GGT p.G469G TOX2_uc010ggo.2_Silent_p.G487G|TOX2_uc002xle.3_Silent_p.G445G|TOX2_uc010ggp.2_Silent_p.G445G|TOX2_uc002xlg.2_Silent_p.G286G|TOX2_uc010zwk.1_Silent_p.G365G NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 469 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) ACCCCAGTGGGGAGTGTGGCA 0.642 NA 61 145 1.48005e-37 2.684e-37 0.00361 1 0 HNF4A 3172 broad.mit.edu 37 20 43034856 43034856 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:43034856C>A uc002xma.2 + 2 363 c.274C>A c.(274-276)CAC>AAC p.H92N HNF4A_uc010zwo.1_Silent_p.T82T|HNF4A_uc002xlt.2_Missense_Mutation_p.H70N|HNF4A_uc002xlu.2_Missense_Mutation_p.H70N|HNF4A_uc002xlv.2_Missense_Mutation_p.H70N|HNF4A_uc002xly.2_Missense_Mutation_p.H92N|HNF4A_uc002xlz.2_Missense_Mutation_p.H92N|HNF4A_uc010ggq.2_Missense_Mutation_p.H85N NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 92 Nuclear receptor. blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCGGAAGAACCACATGTACTC 0.532 Colon(79;2 1269 8820 14841 52347) NA 28 57 4.59853e-10 6.12793e-10 0.005443 1 0 ZNF335 63925 broad.mit.edu 37 20 44587938 44587938 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:44587938G>A uc002xqw.2 - 15 2278 c.2155C>T c.(2155-2157)CGC>TGC p.R719C ZNF335_uc010zxk.1_Missense_Mutation_p.R564C NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 719 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) GGGCGACGGCGGGAGGGGGGC 0.657 NA 31 80 0 0 0.003755 0 0 C20orf11 54994 broad.mit.edu 37 20 61576189 61576189 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr20:61576189C>T uc002ydy.2 + 5 789 c.612C>T c.(610-612)AAC>AAT p.N204N NM_017896 NP_060366 Q9NWU2 CT011_HUMAN chromosome 20 open reading frame 11 204 nucleus protein binding 0 Breast(26;5.68e-08) GGGCTCAGAACGAGCTGGACC 0.473 NA 34 81 0 0 0.002445 0 0 TPTE 7179 broad.mit.edu 37 21 10970037 10970037 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr21:10970037C>A uc002yip.1 - 6 459 c.91G>T c.(91-93)GCA>TCA p.A31S TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.A31S|TPTE_uc002yir.1_Missense_Mutation_p.A31S|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 31 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCCTCGGTTGCTCCTTTAAAT 0.393 NA 26 150 1.16021e-09 1.53916e-09 0.007291 1 0 DOPEY2 9980 broad.mit.edu 37 21 37664514 37664514 + Missense_Mutation SNP C C G rs34428315 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr21:37664514C>G uc002yvg.2 + 36 6707 c.6628C>G c.(6628-6630)CTA>GTA p.L2210V DOPEY2_uc011aeb.1_Missense_Mutation_p.L2159V NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 2210 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TCTAGAACTTCTAAAATTAAA 0.284 NA 22 51 0 0 0.010504 0 0 NEFH 4744 broad.mit.edu 37 22 29886353 29886353 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr22:29886353G>A uc003afo.2 + 4 2795 c.2724G>A c.(2722-2724)AAG>AAA p.K908K NEFH_uc003afp.2_5'UTR NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 914 Tail. cell death|nervous system development neurofilament 0 CCCCAGAGAAGGAGGCTCCTG 0.498 NA 6 17 0 0 0.00308 0 0 CTNNB1 1499 broad.mit.edu 37 3 41274850 41274850 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:41274850G>T uc010hia.1 + 9 1256 c.1100G>T c.(1099-1101)GGA>GTA p.G367V CTNNB1_uc003ckp.2_Missense_Mutation_p.G367V|CTNNB1_uc003ckq.2_Missense_Mutation_p.G367V|CTNNB1_uc003ckr.2_Missense_Mutation_p.G367V|CTNNB1_uc011azf.1_Missense_Mutation_p.G360V|CTNNB1_uc011azg.1_Missense_Mutation_p.G295V|CTNNB1_uc003cks.2_5'Flank|CTNNB1_uc003ckt.1_5'Flank NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 367 ARM 6. adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CAAGCTTTAGGACTTCACCTG 0.393 Colon(6;3 56 14213 18255) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 19 62 3.99206e-14 5.91822e-14 0.007413 1 0 ZBTB47 92999 broad.mit.edu 37 3 42703101 42703101 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:42703101C>T uc003clu.1 + 2 572 c.470C>T c.(469-471)GCC>GTC p.A157V NM_145166 NP_660149 Q9UFB7 ZBT47_HUMAN zinc finger protein 651 157 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.216) TACACCATGGCCCACGTGCGT 0.522 NA 13 45 0 0 0.00245 0 0 Unknown 0 broad.mit.edu 37 3 42982786 42982786 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:42982786C>A uc003cmm.3 + 3 247 c.102C>A c.(100-102)GCC>GCA p.A34A uc003cmn.3_Silent_p.A34A SubName: Full=cDNA FLJ51974; NA TGGTGCCTGCCGAGAGGGCCT 0.537 NA 3 10 0.004672 0.00501901 0.004672 1 0 SMARCC1 6599 broad.mit.edu 37 3 47663809 47663809 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:47663809C>G uc003crq.2 - 25 2787 c.2669G>C c.(2668-2670)AGA>ACA p.R890T SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.R781T NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 890 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) CTTGATCTTTCTTTCTTCCAC 0.378 NA 53 151 0 0 0.00361 0 0 BSN 8927 broad.mit.edu 37 3 49691797 49691797 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:49691797C>T uc003cxe.3 + 5 4922 c.4808C>T c.(4807-4809)TCT>TTT p.S1603F NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1603 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCGAGTGTGTCTCAGCTGCCC 0.642 NA 13 30 0 0 0.00245 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54913116 54913116 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:54913116G>T uc003dhf.2 + 19 1830 c.1782G>T c.(1780-1782)GGG>GGT p.G594G CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.G500G|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.G328G|uc003dhk.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 594 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TGGACAAAGGGGTACATTTTT 0.343 NA 10 31 5.16669e-11 7.10869e-11 0.000978 1 0 ROBO2 6092 broad.mit.edu 37 3 77623840 77623840 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:77623840G>T uc003dpy.3 + 14 2805 c.2162G>T c.(2161-2163)GGA>GTA p.G721V ROBO2_uc003dpz.2_Missense_Mutation_p.G725V|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.G725V NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 721 Fibronectin type-III 2.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GAGTTCCAAGGAATGGATAGT 0.373 NA 9 26 1.12685e-05 1.31281e-05 0.004482 1 0 VGLL3 389136 broad.mit.edu 37 3 87017756 87017756 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:87017756G>C uc003dqn.2 - 3 1285 c.921C>G c.(919-921)AGC>AGG p.S307R NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CGAATCCCACGCTGGGCACTA 0.418 NA 14 59 0 0 0.003163 0 0 EPHA3 2042 broad.mit.edu 37 3 89391035 89391035 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:89391035G>T uc003dqy.2 + 5 1326 c.1101G>T c.(1099-1101)GGG>GGT p.G367G EPHA3_uc003dqx.1_Silent_p.G367G|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 367 Extracellular (Potential).|Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AAAAATGTGGGTGGAATATAA 0.488 NA TSP Lung(6;0.00050) 18 81 1.55795e-14 2.32711e-14 0.001882 1 0 FILIP1L 11259 broad.mit.edu 37 3 99567728 99567728 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:99567728G>C uc003dtm.2 - 5 3255 c.2792C>G c.(2791-2793)ACG>AGG p.T931R C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.T931R|FILIP1L_uc010hpf.2_Missense_Mutation_p.T507R|FILIP1L_uc010hpg.2_Missense_Mutation_p.T691R|FILIP1L_uc003dtn.2_Missense_Mutation_p.T691R|FILIP1L_uc003dtp.1_Missense_Mutation_p.T691R NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 931 cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 TGCAGTACTCGTGTAAGAGTG 0.473 NA 85 275 0 0 0.00361 0 0 GPR128 84873 broad.mit.edu 37 3 100328780 100328780 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:100328780T>A uc003duc.2 + 1 348 c.80T>A c.(79-81)CTG>CAG p.L27Q NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 27 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 ATTTTGGGACTGGGCATCTGG 0.517 Pancreas(87;185 1975 7223 18722) NA 28 98 0 0 0.009535 0 0 MORC1 27136 broad.mit.edu 37 3 108819263 108819263 + Splice_Site SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:108819263C>G uc003dxl.2 - 5 401 c.314_splice c.e5+1 p.S105_splice MORC1_uc011bhn.1_Splice_Site_p.S105_splice NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 AAAATTCTCACCTTTTAAGAC 0.353 NA 5 175 0 0 0.000602 0 0 STXBP5L 9515 broad.mit.edu 37 3 120973837 120973837 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:120973837G>T uc003eec.3 + 16 1677 c.1537G>T c.(1537-1539)GAC>TAC p.D513Y STXBP5L_uc011bji.1_Missense_Mutation_p.D513Y NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 513 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) TGTAGAGGAAGACCCATTTGC 0.363 NA 13 35 1.5842e-08 2.04669e-08 0.001855 1 0 CASR 846 broad.mit.edu 37 3 122002901 122002901 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:122002901C>A uc003eev.3 + 7 2472 c.2100C>A c.(2098-2100)AAC>AAA p.N700K CASR_uc003eew.3_Missense_Mutation_p.N710K NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 700 Helical; Name=3; (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGAAAACCAACCGTGTCCTCC 0.602 NA 29 115 1.7881e-09 2.35632e-09 0.008361 1 0 SEMA5B 54437 broad.mit.edu 37 3 122631831 122631831 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:122631831A>G uc003efz.1 - 18 2888 c.2584T>C c.(2584-2586)TGG>CGG p.W862R SEMA5B_uc011bju.1_Missense_Mutation_p.W804R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.W862R|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 862 Extracellular (Potential).|TSP type-1 3. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CAGGACGACCACGGGCCCCAG 0.746 NA 8 25 0 0 0.004482 0 0 NUDT16 131870 broad.mit.edu 37 3 131101022 131101022 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:131101022G>A uc003eof.2 + 2 213 c.172G>A c.(172-174)GAG>AAG p.E58K uc003eoc.1_5'Flank|NUDT16_uc011bln.1_Missense_Mutation_p.E45K|NUDT16_uc003eog.1_Missense_Mutation_p.E58K NM_152395 NP_689608 Q96DE0 NUD16_HUMAN nudix-type motif 16 91 Nudix hydrolase. nucleolus|nucleoplasm hydrolase activity|metal ion binding|RNA binding 0 TTTCCGCGTGGAGCGCACTGA 0.672 NA 9 27 0 0 0.001882 0 0 MED12L 116931 broad.mit.edu 37 3 151101922 151101922 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:151101922G>A uc003eyp.2 + 33 4775 c.4737G>A c.(4735-4737)ACG>ACA p.T1579T MED12L_uc011bnz.1_Silent_p.T1439T|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.T742T NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1579 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCAATGGAACGTTAGCCTCTG 0.353 NA 4 57 0 0 0.009096 0 0 SI 6476 broad.mit.edu 37 3 164733862 164733862 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:164733862G>C uc003fei.2 - 32 3828 c.3766C>G c.(3766-3768)CAG>GAG p.Q1256E NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1256 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCTGTGTACTGAACATCCTGA 0.333 NA HNSCC(35;0.089) 4 72 0 0 0.009096 0 0 SLC7A14 57709 broad.mit.edu 37 3 170216488 170216488 + Nonsense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:170216488C>A uc003fgz.2 - 4 1043 c.727G>T c.(727-729)GAG>TAG p.E243* CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 243 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AACTGGCCCTCCGCCCAGTAT 0.517 NA 24 65 1.17739e-12 1.6824e-12 0.005443 1 0 ABCC5 10057 broad.mit.edu 37 3 183667663 183667663 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:183667663C>A uc003fmg.2 - 22 3270 c.3105G>T c.(3103-3105)CTG>CTT p.L1035L ABCC5_uc011bqt.1_Silent_p.L563L|ABCC5_uc010hxl.2_Intron NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1035 Helical; (Potential).|ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCTCCCGAATCAGGACCCTGG 0.557 NA 24 72 2.24059e-21 3.67037e-21 0.00632 1 0 SENP2 59343 broad.mit.edu 37 3 185341817 185341817 + Nonsense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:185341817A>T uc003fpn.2 + 15 1729 c.1558A>T c.(1558-1560)AGA>TGA p.R520* SENP2_uc011brv.1_Nonsense_Mutation_p.R510*|SENP2_uc011brw.1_Nonsense_Mutation_p.R333* NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 520 Protease. mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TAAGACCAAAAGAAATAGTGA 0.343 NA 39 116 0 0 0.00874 0 0 AHSG 197 broad.mit.edu 37 3 186335058 186335058 + Silent SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:186335058G>C uc003fqk.3 + 4 573 c.492G>C c.(490-492)GCG>GCC p.A164A AHSG_uc003fqj.2_Silent_p.A164A|AHSG_uc003fql.3_Silent_p.A165A|AHSG_uc003fqm.3_Silent_p.A163A|AHSG_uc010hyp.2_Silent_p.A127A NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 164 Cystatin fetuin-A-type 2. PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649). acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) TGCACGCCGCGAAAGCTGCCC 0.592 NA OREG0015968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 119 0 0 0.004656 0 0 GP5 2814 broad.mit.edu 37 3 194118069 194118069 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:194118069G>A uc003ftv.1 - 2 974 c.943C>T c.(943-945)CGC>TGC p.R315C NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 315 Extracellular (Potential). blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) TACCGCAGGCGGCTCAGGTTG 0.726 NA 6 15 0 0 0.001168 0 0 HGFAC 3083 broad.mit.edu 37 4 3444869 3444869 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:3444869A>G uc003ghc.2 + 3 394 c.391A>G c.(391-393)AAG>GAG p.K131E HGFAC_uc010icw.2_Missense_Mutation_p.K131E NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 131 Fibronectin type-II. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TGCACACAGGAAGTGGTGGGT 0.697 NA 6 20 0 0 0.001168 0 0 ACOX3 8310 broad.mit.edu 37 4 8418165 8418165 + Silent SNP C C T rs35092737 byFrequency TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:8418165C>T uc010idk.2 - 2 229 c.84G>A c.(82-84)GCG>GCA p.A28A ACOX3_uc003glc.3_Silent_p.A28A|ACOX3_uc003gld.3_Silent_p.A28A|ACOX3_uc003gle.1_5'Flank NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 28 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 AGCTGAAGGACGCTCTTGCTC 0.607 NA 16 132 0 0 0.004007 0 0 GPR125 166647 broad.mit.edu 37 4 22390178 22390178 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:22390178C>A uc003gqm.1 - 19 3381 c.3116G>T c.(3115-3117)AGT>ATT p.S1039I GPR125_uc010ieo.1_Missense_Mutation_p.S895I|GPR125_uc003gql.1_Missense_Mutation_p.S166I NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 1039 Helical; Name=7; (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) GAAGAACGCACTGAAGCTTAA 0.463 NA 53 77 5.73376e-24 9.71462e-24 0.00361 1 0 PDS5A 23244 broad.mit.edu 37 4 39904046 39904046 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:39904046C>T uc003guv.3 - 13 1960 c.1420G>A c.(1420-1422)GTC>ATC p.V474I PDS5A_uc010ifo.2_Missense_Mutation_p.V434I|PDS5A_uc003guw.3_Missense_Mutation_p.V474I NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 474 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 TTGTGGGGGACAAGATACTGA 0.318 NA 8 68 0 0 0.004482 0 0 PDGFRA 5156 broad.mit.edu 37 4 55131116 55131116 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:55131116C>G uc003han.3 + 5 990 c.659C>G c.(658-660)GCT>GGT p.A220G PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.A114G|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 220 Ig-like C2-type 3.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GAAATGGAAGCTCTTAAAACC 0.408 Pancreas(151;208 1913 7310 23853 37092) NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 88 122 0 0 0.00361 0 0 KDR 3791 broad.mit.edu 37 4 55961743 55961743 + Splice_Site SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:55961743C>A uc003has.2 - 20 3119 c.2817_splice c.e20+1 p.K939_splice KDR_uc003hat.1_Splice_Site_p.K939_splice NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGATGACATACCTTGTAGGGG 0.413 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 10 49 3.27435e-08 4.20279e-08 0.00245 1 0 UBA6 55236 broad.mit.edu 37 4 68534382 68534382 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:68534382C>T uc003hdg.3 - 9 732 c.680G>A c.(679-681)GGC>GAC p.G227D UBA6_uc003hdi.2_Missense_Mutation_p.G227D|UBA6_uc003hdj.2_Missense_Mutation_p.G227D NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 227 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 AGTAACAATGCCAGGATTTGC 0.303 NA 4 23 0 0 0.009096 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535962 69535962 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:69535962G>T uc011cal.1 - 1 413 c.375C>A c.(373-375)AAC>AAA p.N125K NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 125 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 TACAGAGCTTGTTACTGTAGT 0.328 NA 21 94 2.37509e-13 3.46051e-13 0.010504 1 0 UGT2B10 7365 broad.mit.edu 37 4 69879862 69879862 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:69879862T>A uc011cao.1 - 6 903 c.767A>T c.(766-768)GAG>GTG p.E256V UGT2B10_uc011can.1_Missense_Mutation_p.E172V P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 293 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 CTGTACAAACTCCTCCATTTG 0.408 Melanoma(133;755 1763 25578 26334 46021) NA 24 90 0 0 0.002299 0 0 GRSF1 2926 broad.mit.edu 37 4 71691024 71691024 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:71691024C>A uc010iia.1 - 8 1465 c.1382G>T c.(1381-1383)CGG>CTG p.R461L GRSF1_uc011caz.1_Missense_Mutation_p.R343L|GRSF1_uc003hfs.2_Missense_Mutation_p.R299L NM_002092 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 isoform 1 461 RRM 3. mRNA polyadenylation mRNA binding|nucleotide binding 0 all_hematologic(202;0.21) Lung(101;0.235) AACGTGGGACCGATCCTTGAG 0.443 NA 24 28 1.42536e-11 1.97948e-11 0.004656 1 0 NPFFR2 10886 broad.mit.edu 37 4 72897911 72897911 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:72897911G>T uc003hgg.2 + 1 391 c.293G>T c.(292-294)CGG>CTG p.R98L NPFFR2_uc010iig.1_5'UTR NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 98 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) AGGGCTCGCCGGGAGAGGTAA 0.622 NA 19 13 1.22574e-08 1.59051e-08 0.002299 1 0 FRAS1 80144 broad.mit.edu 37 4 79402985 79402985 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:79402985A>G uc003hlb.2 + 57 8911 c.8471A>G c.(8470-8472)CAT>CGT p.H2824R NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2819 Calx-beta 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GTTATCCGCCATGGTACTGAC 0.478 NA 163 254 0 0 0.00361 0 0 AGPAT9 84803 broad.mit.edu 37 4 84516068 84516068 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:84516068G>T uc003how.2 + 8 1027 c.809G>T c.(808-810)TGG>TTG p.W270L AGPAT9_uc003hox.2_Missense_Mutation_p.W270L|AGPAT9_uc003hoy.2_Missense_Mutation_p.W270L NM_032717 NP_116106 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 270 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity skin(1) 1 Hepatocellular(203;0.114) CCTCATGTCTGGTTTGAACGC 0.438 NA 39 149 3.33393e-15 5.06929e-15 0.004878 1 0 DMP1 1758 broad.mit.edu 37 4 88583970 88583970 + Nonsense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:88583970C>G uc003hqv.2 + 6 1144 c.1040C>G c.(1039-1041)TCA>TGA p.S347* DMP1_uc003hqw.2_Nonsense_Mutation_p.S331* NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 347 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GCCAACCTGTCATCTCAAGAG 0.522 NA 5 219 0 0 0.000602 0 0 ALPK1 80216 broad.mit.edu 37 4 113350384 113350384 + Missense_Mutation SNP C C T rs34120296 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:113350384C>T uc003iap.3 + 10 1154 c.875C>T c.(874-876)ACG>ATG p.T292M ALPK1_uc003ian.3_Missense_Mutation_p.T292M|ALPK1_uc011cfx.1_Missense_Mutation_p.T214M|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.T120M NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 292 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AGTGCCTATACGCCGCTCTTC 0.557 NA 42 110 0 0 0.00361 0 0 ANK2 287 broad.mit.edu 37 4 114153332 114153332 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:114153332T>A uc003ibe.3 + 5 500 c.400T>A c.(400-402)TTA>ATA p.L134I ANK2_uc003ibd.3_Missense_Mutation_p.L113I|ANK2_uc003ibf.3_Missense_Mutation_p.L134I|ANK2_uc003ibc.2_Missense_Mutation_p.L110I|ANK2_uc011cgb.1_Missense_Mutation_p.L149I NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 134 ANK 4. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTTTACTCCTTTATACATGGC 0.393 NA 50 95 0 0 0.00361 0 0 ANK2 287 broad.mit.edu 37 4 114274319 114274319 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:114274319C>G uc003ibe.3 + 38 4645 c.4545C>G c.(4543-4545)ATC>ATG p.I1515M ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.I1530M NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1482 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAGATTTGATCAAAATGACCG 0.458 NA 22 89 0 0 0.002299 0 0 ADAD1 132612 broad.mit.edu 37 4 123336740 123336740 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:123336740G>T uc003ieo.2 + 11 1688 c.1456G>T c.(1456-1458)GTG>TTG p.V486L ADAD1_uc003iep.2_Missense_Mutation_p.V475L|ADAD1_uc003ieq.2_Missense_Mutation_p.V468L NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 486 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 TTTGGAGATTGTGGATGGCCT 0.333 NA 27 73 8.24728e-16 1.2736e-15 0.004656 1 0 FAT4 79633 broad.mit.edu 37 4 126337745 126337745 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:126337745G>C uc003ifj.3 + 6 6986 c.6986G>C c.(6985-6987)CGC>CCC p.R2329P FAT4_uc011cgp.1_Missense_Mutation_p.R627P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2329 Extracellular (Potential).|Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACAAAAGAGCGCTTTGTCTTA 0.338 NA 46 161 0 0 0.002522 0 0 PLK4 10733 broad.mit.edu 37 4 128804445 128804445 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:128804445G>T uc003ifo.2 + 3 400 c.155G>T c.(154-156)GGA>GTA p.G52V PLK4_uc011cgs.1_Intron|PLK4_uc011cgt.1_Missense_Mutation_p.G11V NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 52 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 TACAAAGCAGGAATGGTACAG 0.313 Colon(135;508 1718 19061 31832 42879) NA 13 41 3.32936e-07 4.12173e-07 0.006122 1 0 GUCY1A3 2982 broad.mit.edu 37 4 156629414 156629414 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:156629414A>G uc003iov.2 + 6 880 c.344A>G c.(343-345)GAA>GGA p.E115G GUCY1A3_uc003iou.2_Missense_Mutation_p.E115G|GUCY1A3_uc010iqc.2_Missense_Mutation_p.E115G|GUCY1A3_uc003iow.2_Missense_Mutation_p.E115G|GUCY1A3_uc010iqd.2_Missense_Mutation_p.E115G|GUCY1A3_uc003iox.2_Missense_Mutation_p.E115G|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.E115G|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.E115G NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 115 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GAAGACTTTGAAAAAACAATT 0.279 NA 16 40 0 0 0.00499 0 0 FAM198B 51313 broad.mit.edu 37 4 159052134 159052134 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:159052134C>G uc003ipp.3 - 4 1608 c.1156G>C c.(1156-1158)GGA>CGA p.G386R FAM198B_uc003ipq.3_Missense_Mutation_p.G394R|FAM198B_uc003ipr.3_Missense_Mutation_p.G386R NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 386 Extracellular (Potential). Golgi membrane|integral to membrane 0 GGTCTGAATCCACAGCAATTT 0.398 NA 11 52 0 0 0.001368 0 0 TKTL2 84076 broad.mit.edu 37 4 164394019 164394019 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:164394019G>T uc003iqp.3 - 1 1029 c.868C>A c.(868-870)CCA>ACA p.P290T NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 290 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GGCGATTTTGGTATGAGATTC 0.294 NA 114 403 1.66084e-67 3.15665e-67 0.00361 1 0 SC4MOL 6307 broad.mit.edu 37 4 166258949 166258949 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:166258949A>T uc003ire.2 + 3 394 c.264A>T c.(262-264)CCA>CCT p.P88P SC4MOL_uc010irb.2_Silent_p.P88P|SC4MOL_uc003irf.2_5'UTR NM_006745 NP_006736 Q15800 ERG25_HUMAN sterol-C4-methyl oxidase-like isoform 1 88 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding 0 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0875) NADH(DB00157) AGGATAAGCCAGAGACATGGG 0.343 NA 6 47 0 0 0.001984 0 0 GPM6A 2823 broad.mit.edu 37 4 176573023 176573023 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:176573023A>T uc003iuf.2 - 4 1307 c.503T>A c.(502-504)GTG>GAG p.V168E GPM6A_uc011ckj.1_Missense_Mutation_p.V161E|GPM6A_uc003iug.2_Missense_Mutation_p.V168E|GPM6A_uc003iuh.2_Missense_Mutation_p.V157E NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 168 Extracellular (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) TGCTCCCTCCACTAATGTGGT 0.458 NA 11 48 0 0 0.001855 0 0 ODZ3 55714 broad.mit.edu 37 4 183651436 183651436 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:183651436C>A uc003ivd.1 + 14 2706 c.2669C>A c.(2668-2670)CCA>CAA p.P890Q ODZ3_uc003ive.1_Missense_Mutation_p.P296Q NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 890 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TTCCATTACCCAGAATATGGA 0.418 NA 10 62 3.86212e-05 4.4043e-05 0.008291 1 0 ODZ3 55714 broad.mit.edu 37 4 183664485 183664485 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:183664485G>T uc003ivd.1 + 18 3579 c.3542G>T c.(3541-3543)GGG>GTG p.G1181V ODZ3_uc003ive.1_Missense_Mutation_p.G587V NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1181 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CTAGCTTGTGGGATCGATGGC 0.507 NA 13 35 1.5842e-08 2.04669e-08 0.001855 1 0 FAT1 2195 broad.mit.edu 37 4 187538952 187538952 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr4:187538952C>A uc003izf.2 - 10 8976 c.8788G>T c.(8788-8790)GAT>TAT p.D2930Y NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2930 Extracellular (Potential).|Cadherin 27. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TGGGGGTCATCCTCACTCACA 0.463 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 35 106 6.4771e-29 1.12968e-28 0.002522 1 0 AHRR 57491 broad.mit.edu 37 5 434430 434430 + Silent SNP G G A rs111334085 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:434430G>A uc003jav.2 + 12 1685 c.1641G>A c.(1639-1641)CCG>CCA p.P547P AHRR_uc003jaw.2_Silent_p.P525P|AHRR_uc010isy.2_Silent_p.P375P|AHRR_uc010isz.2_Silent_p.P525P|AHRR_uc003jax.2_Silent_p.P288P|AHRR_uc003jay.2_Silent_p.P385P|AHRR_uc003jaz.2_Silent_p.P146P NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) TGTGTGGTCCGACGCTGCTGC 0.622 NA 18 76 0 0 0.007413 0 0 SLC9A3 6550 broad.mit.edu 37 5 482774 482774 + Silent SNP G G A rs143761751 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:482774G>A uc003jbe.2 - 7 1357 c.1245C>T c.(1243-1245)CGC>CGT p.R415R SLC9A3_uc011clx.1_Silent_p.R415R NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 415 cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CCACGGCCCCGCGCAGGCCCC 0.612 NA 7 62 0 0 0.001984 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461293 5461293 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:5461293G>T uc003jdm.3 + 13 2068 c.1846G>T c.(1846-1848)GGT>TGT p.G616C NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 616 ovary(1)|central_nervous_system(1) 2 TGATGACTCAGGTGATGGAAT 0.418 NA 44 130 1.03325e-14 1.55907e-14 0.002852 1 0 DNAH5 1767 broad.mit.edu 37 5 13820609 13820609 + Splice_Site SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:13820609C>A uc003jfd.2 - 41 6730 c.6688_splice c.e41-1 p.V2230_splice NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTTCTTCAACCTGAAAACATA 0.318 NA Kartagener_syndrome 27 85 1.7881e-09 2.35632e-09 0.008361 1 0 TRIO 7204 broad.mit.edu 37 5 14461326 14461326 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:14461326A>G uc003jff.2 + 35 5408 c.5402A>G c.(5401-5403)AAG>AGG p.K1801R TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.K1450R|TRIO_uc003jfi.1_Missense_Mutation_p.K104R NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1801 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CACAAGCACAAGAAGAGCCGC 0.706 NA 3 6 0 0 0.009096 0 0 CDH6 1004 broad.mit.edu 37 5 31323317 31323317 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:31323317G>T uc003jhe.1 + 12 2601 c.2275G>T c.(2275-2277)GAT>TAT p.D759Y NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 759 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 AGTGACCACGGATGCAGATCA 0.537 NA 28 115 9.39395e-14 1.38229e-13 0.00632 1 0 RXFP3 51289 broad.mit.edu 37 5 33937086 33937086 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:33937086C>A uc003jic.1 + 1 598 c.241C>A c.(241-243)CGG>AGG p.R81R NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 81 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GGCCCGGGTGCGGATTCTCAT 0.687 NA 15 63 2.31682e-05 2.67291e-05 0.003163 1 0 AMACR 23600 broad.mit.edu 37 5 33989433 33989433 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:33989433T>A uc003jig.2 - 5 996 c.914A>T c.(913-915)CAT>CTT p.H305L AMACR_uc003jih.2_3'UTR|AMACR_uc003jii.2_Missense_Mutation_p.H290L|AMACR_uc003jij.2_Missense_Mutation_p.H305L NM_014324 NP_055139 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase isoform 1 305 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity 0 GTGATCATGATGAACAACCTC 0.532 NA 44 84 0 0 0.002852 0 0 PRLR 5618 broad.mit.edu 37 5 35084585 35084585 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:35084585G>C uc003jjm.2 - 5 890 c.360C>G c.(358-360)GAC>GAG p.D120E PRLR_uc003jjg.1_Missense_Mutation_p.D120E|PRLR_uc003jjh.1_Missense_Mutation_p.D120E|PRLR_uc003jji.1_Missense_Mutation_p.D49E|PRLR_uc003jjj.1_Missense_Mutation_p.D120E|PRLR_uc003jjk.1_Missense_Mutation_p.D49E|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_Missense_Mutation_p.D49E NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 120 Fibronectin type-III 1.|Extracellular (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity p.D120G(1) ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGTAAGTCACGTCCACATAAA 0.438 NA 70 272 0 0 0.00361 0 0 SLC1A3 6507 broad.mit.edu 37 5 36677103 36677103 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:36677103G>T uc003jkj.3 + 6 1153 c.677G>T c.(676-678)CGA>CTA p.R226L SLC1A3_uc011cox.1_Missense_Mutation_p.R119L|SLC1A3_uc010iuy.2_Missense_Mutation_p.R226L NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 226 Extracellular (Potential). D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) ACTCTTACCCGAATCACAGAG 0.488 NA 16 58 3.45872e-05 3.98256e-05 0.004007 1 0 NUP155 9631 broad.mit.edu 37 5 37341209 37341209 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:37341209C>A uc003jku.1 - 11 1347 c.1229G>T c.(1228-1230)AGA>ATA p.R410I NUP155_uc003jkt.1_Missense_Mutation_p.R351I|NUP155_uc010iuz.1_Missense_Mutation_p.R410I NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 410 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATAAAGAGCTCTATGTACTTT 0.353 NA 21 80 1.55795e-14 2.32711e-14 0.001882 1 0 ITGA1 3672 broad.mit.edu 37 5 52211398 52211398 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:52211398G>T uc003jou.2 + 15 2014 c.1962G>T c.(1960-1962)GGG>GGT p.G654G ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.G185G NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 654 Extracellular (Potential).|FG-GAP 7. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TGACTATTGGGGGCCTTGGTG 0.463 NA 82 138 3.59392e-34 6.45817e-34 0.00361 1 0 ADAMTS6 11174 broad.mit.edu 37 5 64569202 64569202 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:64569202C>A uc003jtp.2 - 12 2399 c.1585G>T c.(1585-1587)GGG>TGG p.G529W ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.G150W NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 529 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CACAGTGTCCCCTCAGCTGCT 0.423 NA 46 177 6.31075e-24 1.06618e-23 0.00361 1 0 FCHO2 115548 broad.mit.edu 37 5 72383455 72383455 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:72383455G>A uc003kcl.2 + 25 2401 c.2285G>A c.(2284-2286)GGA>GAA p.G762E FCHO2_uc011csl.1_Missense_Mutation_p.G729E|FCHO2_uc010izb.2_Missense_Mutation_p.G190E|FCHO2_uc011csn.1_Missense_Mutation_p.G190E NM_138782 NP_620137 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 isoform a 762 ovary(1) 1 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) CTTTCAGAAGGACCTAGTAAA 0.423 NA 16 57 0 0 0.003163 0 0 THBS4 7060 broad.mit.edu 37 5 79373964 79373964 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:79373964C>G uc003kgh.2 + 18 2502 c.2179C>G c.(2179-2181)CTG>GTG p.L727V uc003kgi.3_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 727 TSP type-3 8. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity 0 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) AGAGGTCACCCTGACCGACTT 0.587 NA 5 51 0 0 0.000602 0 0 VCAN 1462 broad.mit.edu 37 5 82785999 82785999 + Silent SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:82785999T>A uc003kii.3 + 3 509 c.153T>A c.(151-153)ACT>ACA p.T51T VCAN_uc003kij.3_Silent_p.T51T|VCAN_uc010jau.2_Silent_p.T51T|VCAN_uc003kik.3_Silent_p.T51T|VCAN_uc003kih.3_Silent_p.T51T NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 51 Ig-like V-type. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CGATGCCTACTTTGCCACCCA 0.438 NA 9 191 0 0 0.006214 0 0 FER 2241 broad.mit.edu 37 5 108281839 108281839 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:108281839G>T uc003kop.1 + 11 1629 c.1245G>T c.(1243-1245)AAG>AAT p.K415N FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.K240N NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 415 intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) AGGAAAGAAAGGAGAGGCTAT 0.373 Colon(146;1051 1799 9836 27344 47401) NA 20 17 2.4624e-09 3.23053e-09 0.008871 1 0 AQPEP 206338 broad.mit.edu 37 5 115339077 115339077 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:115339077G>T uc003kro.2 + 12 2201 c.2037G>T c.(2035-2037)AAG>AAT p.K679N AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 679 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 AGGATCCTAAGGTAAGGTTAC 0.294 NA 9 93 0.000274275 0.00030515 0.004482 1 0 PRRC1 133619 broad.mit.edu 37 5 126859188 126859188 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:126859188G>C uc003kuk.2 + 2 197 c.17G>C c.(16-18)GGA>GCA p.G6A PRRC1_uc003kuj.3_Missense_Mutation_p.G6A NM_130809 NP_570721 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 6 Golgi apparatus 0 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) GAAGAGAGTGGAATAGAGACA 0.378 NA 10 30 0 0 0.006214 0 0 SLC12A2 6558 broad.mit.edu 37 5 127483407 127483407 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:127483407C>T uc003kus.2 + 11 2031 c.1867C>T c.(1867-1869)CCC>TCC p.P623S SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.P623S NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 623 Cytoplasmic (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) AGTGAGTGCTCCCAAAATATT 0.323 NA 4 35 0 0 0.009096 0 0 FBN2 2201 broad.mit.edu 37 5 127710389 127710389 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:127710389C>A uc003kuu.2 - 15 2466 c.2027G>T c.(2026-2028)AGT>ATT p.S676I FBN2_uc003kuv.2_Missense_Mutation_p.S643I NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 676 EGF-like 10; calcium-binding. 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) GGACCCTTCACTGTTGATGCA 0.507 NA 11 75 1.58986e-06 1.92799e-06 0.008291 1 0 PHF15 23338 broad.mit.edu 37 5 133909338 133909338 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:133909338A>G uc003kzo.1 + 10 1617 c.1438A>G c.(1438-1440)AGA>GGA p.R480G PHF15_uc011cxt.1_Missense_Mutation_p.R480G|PHF15_uc003kzk.2_Missense_Mutation_p.R496G|PHF15_uc003kzl.2_Missense_Mutation_p.R480G|PHF15_uc003kzm.2_Missense_Mutation_p.R480G|PHF15_uc003kzn.2_Intron|PHF15_uc003kzp.2_Missense_Mutation_p.R188G NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 480 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTCTCAGGTTAGAAATCTGTG 0.512 NA 53 57 0 0 0.00361 0 0 PSD2 84249 broad.mit.edu 37 5 139193210 139193210 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:139193210C>T uc003leu.1 + 3 893 c.688C>T c.(688-690)CGC>TGC p.R230C NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 230 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCAGCAGCCGCTCTGAGAA 0.632 NA 16 11 0 0 0.001882 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181953 140181953 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:140181953C>A uc003lhf.2 + 1 1171 c.1171C>A c.(1171-1173)CCC>ACC p.P391T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.P391T NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 391 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGCTGACGCCCCACGTCCC 0.567 NA 60 200 5.10652e-33 9.06637e-33 0.00361 1 0 PCDHB4 56131 broad.mit.edu 37 5 140502030 140502030 + Silent SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:140502030A>G uc003lip.1 + 1 450 c.450A>G c.(448-450)CTA>CTG p.L150L NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 150 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGGTACTCTATTTCCGTTGC 0.403 NA 6 145 0 0 0.001168 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558219 140558219 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:140558219G>T uc011dai.1 + 1 790 c.604G>T c.(604-606)GAC>TAC p.D202Y PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 202 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAAGCGCTGGACCGAGAGGA 0.532 NA 51 245 1.82294e-38 3.32616e-38 0.00361 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140731096 140731096 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:140731096G>A uc003ljo.1 + 1 1269 c.1269G>A c.(1267-1269)AAG>AAA p.K423K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.K423K NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 423 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCGACAAGGGCAAACCAG 0.517 NA 53 41 0 0 0.00361 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140799011 140799011 + Nonsense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:140799011G>T uc003lkn.1 + 1 1730 c.1585G>T c.(1585-1587)GAG>TAG p.E529* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Nonsense_Mutation_p.E529*|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 529 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCACCTTCGAGCTCACGCT 0.697 NA 53 57 1.63038e-21 2.68559e-21 0.00361 1 0 PCDHGA12 26025 broad.mit.edu 37 5 140812210 140812210 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:140812210G>T uc003lkt.1 + 1 2053 c.1884G>T c.(1882-1884)ACG>ACT p.T628T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.T628T NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 628 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGCGCACGGCGCGAGCCC 0.687 NA 19 135 1.28384e-07 1.60277e-07 0.001882 1 0 EBF1 1879 broad.mit.edu 37 5 158135059 158135059 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:158135059A>G uc010jip.2 - 15 1974 c.1672T>C c.(1672-1674)TTC>CTC p.F558L EBF1_uc011ddw.1_Missense_Mutation_p.F426L|EBF1_uc011ddx.1_Missense_Mutation_p.F559L|EBF1_uc003lxl.3_Missense_Mutation_p.F527L NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 558 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTGGTGCGAAAGCACTCTTC 0.622 NA T HMGA2 lipoma 9 6 0 0 0.008291 0 0 HMMR 3161 broad.mit.edu 37 5 162909666 162909666 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:162909666C>T uc003lzf.2 + 13 1583 c.1401C>T c.(1399-1401)GCC>GCT p.A467A HMMR_uc003lzh.2_Silent_p.A468A|HMMR_uc003lzg.2_Silent_p.A452A|HMMR_uc011dem.1_Silent_p.A381A|uc003lzi.2_RNA NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 467 cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) CGTTAACAGCCAGTGAGATAG 0.348 NA 9 56 0 0 0.000978 0 0 SLIT3 6586 broad.mit.edu 37 5 168093656 168093656 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:168093656G>T uc003mab.2 - 36 4795 c.4375C>A c.(4375-4377)CGC>AGC p.R1459S SLIT3_uc010jjg.2_Missense_Mutation_p.R1466S NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1459 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTGGCGGCGGATCACCTCT 0.607 Ovarian(29;311 847 10864 17279 24903) NA 14 101 6.31663e-08 8.00376e-08 0.003163 1 0 DOCK2 1794 broad.mit.edu 37 5 169494661 169494661 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:169494661G>T uc003maf.2 + 45 4695 c.4615G>T c.(4615-4617)GTC>TTC p.V1539F DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.V1031F|DOCK2_uc003mah.2_Missense_Mutation_p.V95F NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1539 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGACCCTGCTGTCATGGGAGG 0.547 NA 19 174 1.87028e-06 2.24965e-06 0.001882 1 0 DOCK2 1794 broad.mit.edu 37 5 169508848 169508848 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:169508848C>A uc003maf.2 + 51 5370 c.5290C>A c.(5290-5292)CTG>ATG p.L1764M DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L1256M|DOCK2_uc003mah.2_Missense_Mutation_p.L320M NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1764 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTTCCAGCCCTGGCGCTCTC 0.632 NA 7 58 0.00185496 0.00202204 0.001855 1 0 FOXI1 2299 broad.mit.edu 37 5 169533120 169533120 + Silent SNP C C G rs146116253 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:169533120C>G uc003mai.3 + 1 204 c.159C>G c.(157-159)GGC>GGG p.G53G FOXI1_uc003maj.3_Silent_p.G53G NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 53 Pro-rich. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGGGGGCGGCGAGTATGGGG 0.692 NA Pendred_syndrome 8 29 0 0 0.006214 0 0 HMP19 51617 broad.mit.edu 37 5 173491286 173491286 + Nonsense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:173491286A>T uc003mcx.2 + 3 326 c.181A>T c.(181-183)AAG>TAG p.K61* NM_015980 NP_057064 Q9Y328 NSG2_HUMAN HMP19 protein 61 Cytoplasmic (Potential). dopamine receptor signaling pathway cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane dopamine receptor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GAACAAAGGGAAGTTCCGGGT 0.463 NA 53 60 0 0 0.00361 0 0 HMP19 51617 broad.mit.edu 37 5 173534364 173534364 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:173534364G>T uc003mcx.2 + 5 517 c.372G>T c.(370-372)CAG>CAT p.Q124H HMP19_uc011dfh.1_Missense_Mutation_p.R28M NM_015980 NP_057064 Q9Y328 NSG2_HUMAN HMP19 protein 124 Lumenal (Potential). dopamine receptor signaling pathway cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane dopamine receptor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ACTCCTCCCAGGACCCCAATT 0.592 NA 29 104 5.45727e-16 8.47162e-16 0.008361 1 0 CDHR2 54825 broad.mit.edu 37 5 176011426 176011426 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:176011426T>A uc003mem.1 + 19 2210 c.2144T>A c.(2143-2145)GTG>GAG p.V715E CDHR2_uc003men.1_Missense_Mutation_p.V715E NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 715 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 CTAGTGGGCGTGGTGAAGGCC 0.617 NA 32 228 0 0 0.009535 0 0 UNC5A 90249 broad.mit.edu 37 5 176306803 176306803 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:176306803C>T uc003mey.2 + 15 2637 c.2445C>T c.(2443-2445)GGC>GGT p.G815G NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 815 Death.|Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCCCAACGGCAACCTCAGCC 0.672 NA 8 73 0 0 0.00308 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178585744 178585744 + Missense_Mutation SNP A A C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:178585744A>C uc003mjw.2 - 6 1112 c.1112T>G c.(1111-1113)TTT>TGT p.F371C ADAMTS2_uc011dgm.1_Missense_Mutation_p.F371C NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 371 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGAAGGCCCAAAGTCCTGCCG 0.627 NA 10 192 0 0 0.006214 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178770885 178770885 + Nonsense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:178770885C>T uc003mjw.2 - 2 417 c.417G>A c.(415-417)TGG>TGA p.W139* ADAMTS2_uc011dgm.1_Nonsense_Mutation_p.W139* NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 139 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TCTCGCCCTGCCACTCCATAG 0.687 NA 3 14 0 0 0.004672 0 0 DSP 1832 broad.mit.edu 37 6 7585490 7585490 + Silent SNP G G T rs35379048 byFrequency TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:7585490G>T uc003mxp.1 + 24 8274 c.7995G>T c.(7993-7995)ACG>ACT p.T2665T DSP_uc003mxq.1_Silent_p.T2066T NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2665 Globular 2.|Plectin 15. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACCCAACCACGGGCCAGAAGC 0.577 NA 77 102 2.40943e-26 4.16557e-26 0.00361 1 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726441 25726441 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:25726441C>G uc003nfc.2 - 1 350 c.315G>C c.(313-315)CAG>CAC p.Q105H HIST1H2BA_uc003nfd.2_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 105 nucleosome assembly nucleosome|nucleus DNA binding 0 GGACTCCGCCCTGGGCAATGG 0.507 NA 5 300 0 0 0.001168 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726451 25726451 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:25726451G>C uc003nfc.2 - 1 340 c.305C>G c.(304-306)ACC>AGC p.T102S HIST1H2BA_uc003nfd.2_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 102 nucleosome assembly nucleosome|nucleus DNA binding 0 CTGGGCAATGGTCACGCCGCC 0.512 NA 4 285 0 0 0.001168 0 0 OR2W1 26692 broad.mit.edu 37 6 29012092 29012092 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:29012092C>A uc003nlw.2 - 1 861 c.861G>T c.(859-861)CCG>CCT p.P287P NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TGTAAATGAGCGGGTTGAGAC 0.423 NA 7 10 8.12818e-05 9.16352e-05 0.001984 1 0 ANKS1A 23294 broad.mit.edu 37 6 35053711 35053711 + Missense_Mutation SNP G G T rs143845391 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:35053711G>T uc003ojx.3 + 22 3443 c.3301G>T c.(3301-3303)GCA>TCA p.A1101S ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.A642S|ANKS1A_uc010jvp.1_Missense_Mutation_p.A475S NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 1101 cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 GAGGAAATCCGCAGTACGTGG 0.622 NA 10 26 1.58986e-06 1.92799e-06 0.008291 1 0 SCUBE3 222663 broad.mit.edu 37 6 35212536 35212536 + Silent SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:35212536A>G uc003okf.1 + 18 2355 c.2349A>G c.(2347-2349)CCA>CCG p.P783P SCUBE3_uc003okg.1_Silent_p.P782P|SCUBE3_uc003okh.1_Silent_p.P670P NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 783 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 GCCGCTGTCCAGGAAACACAA 0.577 NA 48 175 0 0 0.00361 0 0 CAPN11 11131 broad.mit.edu 37 6 44150906 44150906 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:44150906G>A uc003owt.1 + 21 2106 c.2068G>A c.(2068-2070)GAT>AAT p.D690N CAPN11_uc011dvn.1_3'UTR NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 690 Domain IV. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CAGGTATGCAGATGATGACCT 0.522 NA 33 109 0 0 0.002445 0 0 DEFB112 245915 broad.mit.edu 37 6 50016257 50016257 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:50016257G>T uc011dws.1 - 1 108 c.108C>A c.(106-108)ATC>ATA p.I36I NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN beta-defensin 112 precursor 36 defense response to bacterium extracellular region central_nervous_system(1) 1 Lung NSC(77;0.042) TACCTGTGCTGATTTTCTCTG 0.318 NA 7 51 0.00307968 0.0033265 0.00308 1 0 TPBG 7162 broad.mit.edu 37 6 83074867 83074867 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:83074867C>T uc003pjn.3 + 3 1125 c.189C>T c.(187-189)CCC>CCT p.P63P TPBG_uc010kbj.2_Silent_p.P63P|TPBG_uc003pjo.2_Silent_p.P63P NM_006670 NP_006661 Q13641 TPBG_HUMAN trophoblast glycoprotein precursor 63 Extracellular (Potential).|LRRNT. cell adhesion integral to plasma membrane central_nervous_system(1) 1 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) ACCAGTGCCCCGCGCTGTGCG 0.557 NA 3 10 0 0 0.004672 0 0 FHL5 9457 broad.mit.edu 37 6 97052766 97052766 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:97052766C>T uc003pos.1 + 4 705 c.300C>T c.(298-300)TCC>TCT p.S100S FHL5_uc003pot.1_Silent_p.S100S NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 100 LIM zinc-binding 1. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) AGTGCTCCTCCAAGTGCTTCC 0.512 NA 13 33 0 0 0.001368 0 0 THEMIS 387357 broad.mit.edu 37 6 128134882 128134882 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:128134882G>C uc003qbi.2 - 5 1223 c.904C>G c.(904-906)CAG>GAG p.Q302E THEMIS_uc010kfa.2_Missense_Mutation_p.Q205E|THEMIS_uc011ebt.1_Missense_Mutation_p.Q302E|THEMIS_uc010kfb.2_Missense_Mutation_p.Q267E NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 302 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 TTCCCAGGCTGTAAAATGCTT 0.398 NA 35 68 0 0 0.003271 0 0 LAMA2 3908 broad.mit.edu 37 6 129649485 129649485 + Silent SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:129649485C>G uc003qbn.2 + 29 4344 c.4239C>G c.(4237-4239)ACC>ACG p.T1413T LAMA2_uc003qbo.2_Silent_p.T1413T NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1413 Laminin EGF-like 14; second part. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTGGACCAACCCTGGGCACCT 0.517 NA 38 54 0 0 0.005524 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762209 130762209 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:130762209G>T uc003qca.2 + 3 1513 c.642G>T c.(640-642)TCG>TCT p.S214S TMEM200A_uc010kfh.2_Silent_p.S214S|TMEM200A_uc010kfi.2_Silent_p.S214S|TMEM200A_uc003qcb.2_Silent_p.S214S NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 214 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CCTCTTTCTCGGGTTTTCGGA 0.478 NA 14 34 6.31663e-08 8.00376e-08 0.003163 1 0 MED23 9439 broad.mit.edu 37 6 131937143 131937143 + Splice_Site SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:131937143C>A uc003qcs.1 - 10 955 c.781_splice c.e10-1 p.D261_splice MED23_uc003qcq.2_Splice_Site_p.D261_splice|MED23_uc003qct.1_Splice_Site_p.D261_splice|MED23_uc011ecb.1_Splice_Site NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CAAACAGATCCTTTAAAGAAA 0.338 NA 10 13 7.48243e-07 9.2247e-07 0.006214 1 0 TAAR2 9287 broad.mit.edu 37 6 132938808 132938808 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:132938808G>T uc003qdl.1 - 2 537 c.537C>A c.(535-537)GTC>GTA p.V179V TAAR2_uc010kfr.1_Silent_p.V134V NM_001033080 NP_001028252 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 isoform 1 179 Helical; Name=4; (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) CCTCTGAGAAGACCACCCCGA 0.463 NA 19 33 2.35188e-11 3.25097e-11 0.006122 1 0 HIVEP2 3097 broad.mit.edu 37 6 143081590 143081590 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:143081590G>A uc003qjd.2 - 9 6578 c.5835C>T c.(5833-5835)TCC>TCT p.S1945S NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TCACAGGCAAGGAGGAGAATC 0.423 Esophageal Squamous(107;843 1510 13293 16805 42198) NA 8 58 0 0 0.000978 0 0 SHPRH 257218 broad.mit.edu 37 6 146247376 146247376 + Silent SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:146247376T>A uc003qlf.2 - 16 3657 c.3258A>T c.(3256-3258)ATA>ATT p.I1086I SHPRH_uc003qld.2_Silent_p.I1095I|SHPRH_uc003qle.2_Silent_p.I1095I|SHPRH_uc003qlg.1_Silent_p.I642I|SHPRH_uc003qlh.2_Silent_p.I11I|SHPRH_uc003qli.1_Silent_p.I11I NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 1086 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AGGTAGGTGGTATCCCTGGGT 0.378 NA 15 37 0 0 0.00499 0 0 GRM1 2911 broad.mit.edu 37 6 146720744 146720744 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:146720744C>A uc010khw.1 + 8 3039 c.2569C>A c.(2569-2571)CGC>AGC p.R857S GRM1_uc010khv.1_Missense_Mutation_p.R857S|GRM1_uc003qll.2_Missense_Mutation_p.R857S|GRM1_uc011edz.1_Missense_Mutation_p.R857S|GRM1_uc011eea.1_Missense_Mutation_p.R857S NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 857 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TGATGTTGTCCGCATGCATGT 0.527 NA 12 42 7.03913e-09 9.15395e-09 0.001368 1 0 STXBP5 134957 broad.mit.edu 37 6 147631360 147631360 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:147631360C>T uc003qlz.2 + 10 1219 c.1058C>T c.(1057-1059)ACA>ATA p.T353I STXBP5_uc010khz.1_Missense_Mutation_p.T353I|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.T24I NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 353 WD 7. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) CTGTGTGAAACACCATACCCA 0.353 NA 11 20 0 0 0.000978 0 0 STXBP5 134957 broad.mit.edu 37 6 147680270 147680270 + Missense_Mutation SNP A A C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:147680270A>C uc003qlz.2 + 23 2517 c.2356A>C c.(2356-2358)ATT>CTT p.I786L STXBP5_uc010khz.1_Missense_Mutation_p.I750L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.I441L NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 786 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TGTAACAAGCATTGACAAAGA 0.418 NA 13 41 0 0 0.001855 0 0 PNLDC1 154197 broad.mit.edu 37 6 160237602 160237602 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:160237602C>A uc003qsx.1 + 14 1226 c.1055C>A c.(1054-1056)GCG>GAG p.A352E PNLDC1_uc003qsy.1_Missense_Mutation_p.A363E NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 352 Cytoplasmic (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CACGAAGCCGCGTATGATGCC 0.408 NA 77 136 7.83748e-43 1.44786e-42 0.00361 1 0 RBAK 57786 broad.mit.edu 37 7 5103997 5103997 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:5103997C>T uc010kss.1 + 6 1234 c.910C>T c.(910-912)CTC>TTC p.L304F LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.L304F NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 304 C2H2-type 2. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) AAAGGGAACCCTCACTGTACA 0.418 NA 18 59 0 0 0.00499 0 0 AHR 196 broad.mit.edu 37 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:17375399G>C uc011jxz.1 + 9 1762 c.1149G>C c.(1147-1149)CAG>CAC p.Q383H AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 383 PAC. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) TTGTAACTCAGAGACCACTAA 0.348 NA 4 31 0 0 0.009096 0 0 PDE1C 5137 broad.mit.edu 37 7 32209435 32209435 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:32209435C>A uc003tco.1 - 3 864 c.270G>T c.(268-270)CAG>CAT p.Q90H NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C Error:Variant_position_missing_in_Q14123_after_alignment activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) AGCTATCCAGCTGTGGCAATT 0.483 NA 12 77 4.92203e-23 8.24509e-23 0.00623 1 0 NPSR1 387129 broad.mit.edu 37 7 34867133 34867133 + Missense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:34867133T>A uc003teg.1 + 5 727 c.599T>A c.(598-600)CTG>CAG p.L200Q AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.L200Q|NPSR1_uc010kwt.1_Missense_Mutation_p.L47Q|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.L134Q|NPSR1_uc003tei.1_Missense_Mutation_p.L200Q|NPSR1_uc010kww.1_Missense_Mutation_p.L189Q|NPSR1_uc011kar.1_Missense_Mutation_p.L134Q|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 200 Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) TGCTGGGCCCTGTGGCCTGAC 0.532 NA 17 156 0 0 0.007413 0 0 HECW1 23072 broad.mit.edu 37 7 43447290 43447290 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:43447290A>T uc003tid.1 + 8 1366 c.761A>T c.(760-762)AAG>ATG p.K254M HECW1_uc011kbi.1_Missense_Mutation_p.K254M|HECW1_uc003tie.1_Missense_Mutation_p.K286M NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 254 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AGGAGATCCAAGATCATAGGC 0.522 NA 42 64 0 0 0.002852 0 0 ABCA13 154664 broad.mit.edu 37 7 48318349 48318349 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:48318349G>T uc003toq.2 + 18 7583 c.7558G>T c.(7558-7560)GAC>TAC p.D2520Y ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2520 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CACATCAATGGACTCCATTGT 0.428 NA 108 147 1.13638e-54 2.14609e-54 0.00361 1 0 ABCA13 154664 broad.mit.edu 37 7 48550739 48550739 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:48550739A>T uc003toq.2 + 51 13609 c.13584A>T c.(13582-13584)ACA>ACT p.T4528T ABCA13_uc010kys.1_Silent_p.T1603T|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.T258T NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4528 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TCCAGTTAACAGCTTTTACTT 0.458 NA 12 97 0 0 0.001855 0 0 SEPT14 346288 broad.mit.edu 37 7 55912411 55912411 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:55912411C>A uc003tqz.2 - 4 293 c.176G>T c.(175-177)GGG>GTG p.G59V NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 59 GTP (By similarity). cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCCAGTCTCCCCTGTAATAGA 0.323 NA 4 23 0.000602214 0.000662548 0.000602 1 0 ZNF716 441234 broad.mit.edu 37 7 57529052 57529052 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:57529052C>A uc011kdi.1 + 4 997 c.885C>A c.(883-885)CCC>CCA p.P295P NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 GAGAGAAACCCTACACATGTG 0.413 NA 10 15 1.58986e-06 1.92799e-06 0.008291 1 0 NCF1B 654816 broad.mit.edu 37 7 72645953 72645953 + Nonsense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:72645953G>A uc011kes.1 + 7 717 c.713G>A c.(712-714)TGG>TAG p.W238* FKBP6_uc003twz.2_Intron NM_000265 NP_000256 neutrophil cytosolic factor 1 0 GACGGCTGGTGGGTCATCAGG 0.597 NA 33 18 0 0 0.00361 0 0 MAGI2 9863 broad.mit.edu 37 7 77789402 77789402 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:77789402C>T uc003ugx.2 - 16 3039 c.2785G>A c.(2785-2787)GAG>AAG p.E929K MAGI2_uc003ugy.2_Missense_Mutation_p.E915K|MAGI2_uc010ldx.1_Missense_Mutation_p.E522K NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 929 PDZ 5. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CCGAAGCCCTCATTCTCTTTG 0.532 NA 7 139 0 0 0.00308 0 0 HGF 3082 broad.mit.edu 37 7 81331986 81331986 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:81331986G>T uc003uhl.2 - 18 2263 c.2098C>A c.(2098-2100)CCA>ACA p.P700T HGF_uc003uhm.2_Missense_Mutation_p.P695T NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 700 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 GGACGATTTGGAATGGCACAT 0.398 NA 29 17 1.32181e-22 2.20798e-22 0.007291 1 0 CACNA2D1 781 broad.mit.edu 37 7 81594951 81594951 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:81594951C>A uc003uhr.1 - 32 2789 c.2533G>T c.(2533-2535)GGG>TGG p.G845W CACNA2D1_uc011kgy.1_Missense_Mutation_p.G57W NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 857 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AGAAGAAACCCACCATCATCC 0.373 NA 5 29 1.23904e-05 1.44069e-05 0.000602 1 0 TFPI2 7980 broad.mit.edu 37 7 93518469 93518469 + Missense_Mutation SNP T T C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:93518469T>C uc003umy.1 - 3 413 c.338A>G c.(337-339)TAT>TGT p.Y113C GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.Y113C|TFPI2_uc003una.1_Missense_Mutation_p.Y102C|TFPI2_uc003unb.1_Missense_Mutation_p.Y113C|TFPI2_uc010lfg.1_Intron NM_006528 NP_006519 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 precursor 113 BPTI/Kunitz inhibitor 2. blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity pancreas(1) 1 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) ATTAAAGAAATACTTTTCTGT 0.443 NA 55 183 0 0 0.00361 0 0 MUC17 140453 broad.mit.edu 37 7 100677932 100677932 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:100677932G>A uc003uxp.1 + 3 3288 c.3235G>A c.(3235-3237)GCC>ACC p.A1079T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1079 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TTATTCTCAAGCCAGTTCATC 0.502 NA 335 444 0 0 0.00361 0 0 MUC17 140453 broad.mit.edu 37 7 100685898 100685898 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:100685898C>G uc003uxp.1 + 3 11254 c.11201C>G c.(11200-11202)TCT>TGT p.S3734C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3734 Extracellular (Potential).|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GCCATTTCATCTTCTGCAACT 0.507 NA 4 321 0 0 0.009096 0 0 EMID2 136227 broad.mit.edu 37 7 101183242 101183242 + Silent SNP T T G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:101183242T>G uc010lhy.1 + 5 702 c.510T>G c.(508-510)ACT>ACG p.T170T EMID2_uc003uyo.1_Silent_p.T172T NM_133457 NP_597714 Q96A83 EMID2_HUMAN EMI domain containing 2 172 collagen ovary(1) 1 Lung NSC(181;0.215) CCGAGAGCACTCCGCCGACCT 0.657 NA 33 25 0 0 0.004878 0 0 CUX1 1523 broad.mit.edu 37 7 101870904 101870904 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:101870904G>T uc003uyx.3 + 21 3426 c.3388G>T c.(3388-3390)GGC>TGC p.G1130C CUX1_uc003uys.3_Missense_Mutation_p.G1141C|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 1130 CUT 3. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GGACACCTACGGCATAACCAA 0.607 NA 26 82 3.69857e-22 6.14356e-22 0.008361 1 0 RELN 5649 broad.mit.edu 37 7 103137039 103137039 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:103137039G>T uc003vca.2 - 56 9287 c.9127C>A c.(9127-9129)CTG>ATG p.L3043M RELN_uc010liz.2_Missense_Mutation_p.L3043M NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3043 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATGTTGTCCAGTGCCCACTGA 0.468 NSCLC(146;835 1944 15585 22231 52158) NA 54 45 9.86064e-34 1.76657e-33 0.00361 1 0 LRRC4 64101 broad.mit.edu 37 7 127670602 127670602 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:127670602A>G uc003vmk.2 - 2 229 c.92T>C c.(91-93)CTG>CCG p.L31P SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 31 cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) GGCTGCACACAGAATCCACAC 0.622 NA 93 54 0 0 0.00361 0 0 HIPK2 28996 broad.mit.edu 37 7 139285223 139285223 + Missense_Mutation SNP C C A rs56132157 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:139285223C>A uc003vvf.3 - 11 2549 c.2375G>T c.(2374-2376)CGG>CTG p.R792L HIPK2_uc003vvd.3_Missense_Mutation_p.R765L NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 792 Interaction with HMGA1 (By similarity).|Interaction with SKI and SMAD1.|Interaction with POU4F1 (By similarity).|Interaction with CTBP1 (By similarity). R -> Q. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) TGGCTGCTGCCGCATCACGTG 0.567 NA 22 75 1.10923e-09 1.47483e-09 0.00278 1 0 PRSS1 5644 broad.mit.edu 37 7 142459828 142459828 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:142459828C>A uc003wak.2 + 3 421 c.404C>A c.(403-405)ACT>AAT p.T135N uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.T75N NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 135 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCTCCAGCCACTGGCACGAAG 0.557 NA Hereditary_Pancreatitis 45 26 1.38705e-31 2.4335e-31 0.00361 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147914552 147914552 + Silent SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:147914552C>G uc003weu.1 + 19 3699 c.3183C>G c.(3181-3183)CCC>CCG p.P1061P NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1061 Laminin G-like 4.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCAAGGCGCCCTGCATTCTCC 0.567 NA HNSCC(39;0.1) 41 125 0 0 0.007835 0 0 KCNH2 3757 broad.mit.edu 37 7 150645550 150645550 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:150645550G>C uc003wic.2 - 11 2687 c.2674C>G c.(2674-2676)CGC>GGC p.R892G KCNH2_uc003wib.2_Missense_Mutation_p.R552G|KCNH2_uc011kux.1_Missense_Mutation_p.R796G NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 892 Cytoplasmic (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GTGCGCCTGCGGAAGGACAAC 0.358 GBM(137;110 1844 13671 20123 45161) NA 19 47 0 0 0.007413 0 0 DPP6 1804 broad.mit.edu 37 7 153584797 153584797 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:153584797C>T uc003wli.2 + 1 379 c.29C>T c.(28-30)GCT>GTT p.A10V NM_001039350 NP_001034439 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 3 Error:Variant_position_missing_in_P42658_after_alignment cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ATCAAGACCGCTAAGATGCAG 0.577 NSCLC(125;1384 1783 2490 7422 34254) NA 13 68 0 0 0.001855 0 0 HTR5A 3361 broad.mit.edu 37 7 154862701 154862701 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:154862701C>G uc003wlu.1 + 1 156 c.92C>G c.(91-93)CCC>CGC p.P31R uc011kvt.1_Intron|uc003wlt.2_Intron NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 31 Extracellular (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) GACCTGCGCCCCAGCTCGCCC 0.612 NA 32 112 0 0 0.005524 0 0 PTPRN2 5799 broad.mit.edu 37 7 157997861 157997861 + Splice_Site SNP A A C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr7:157997861A>C uc003wno.2 - 4 501 c.380_splice c.e4+1 p.R127_splice PTPRN2_uc003wnp.2_Splice_Site_p.R110_splice|PTPRN2_uc003wnq.2_Splice_Site_p.R127_splice|PTPRN2_uc003wnr.2_Splice_Site_p.R89_splice|PTPRN2_uc011kwa.1_Splice_Site_p.R150_splice NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GTCCACACTTACCTGGCTGGG 0.488 NA 18 62 0 0 0.002445 0 0 DLGAP2 9228 broad.mit.edu 37 8 1581027 1581027 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:1581027C>A uc003wpl.2 + 5 1482 c.1385C>A c.(1384-1386)TCC>TAC p.S462Y DLGAP2_uc003wpm.2_Missense_Mutation_p.S462Y NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 541 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) CAATTCGAGTCCGTGTGCGAG 0.567 NA 11 26 2.80697e-09 3.67447e-09 0.000978 1 0 CSMD1 64478 broad.mit.edu 37 8 3432521 3432521 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:3432521C>A uc011kwk.1 - 10 1683 c.1293G>T c.(1291-1293)CAG>CAT p.Q431H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 431 CUB 3.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TATCTTCATACTGAACCGGAT 0.517 NA 18 61 3.32936e-07 4.12173e-07 0.006122 1 0 RP1L1 94137 broad.mit.edu 37 8 10468146 10468146 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:10468146C>A uc003wtc.2 - 4 3691 c.3462G>T c.(3460-3462)TCG>TCT p.S1154S NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1154 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) ACAGGTCCTTCGAGATGCTGA 0.587 NA 22 76 9.57634e-11 1.31149e-10 0.00333 1 0 AMAC1L2 83650 broad.mit.edu 37 8 11188891 11188891 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:11188891C>T uc003wtp.1 + 1 397 c.276C>T c.(274-276)GAC>GAT p.D92D NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 92 DUF6 1. integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) TGCGTGGCGACCCCCTTCTGG 0.592 NA 84 363 0 0 0.00361 0 0 HR 55806 broad.mit.edu 37 8 21976735 21976735 + Silent SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:21976735C>G uc003xas.2 - 15 3704 c.3039G>C c.(3037-3039)CTG>CTC p.L1013L HR_uc003xat.2_Silent_p.L1013L NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 1013 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGATGCTGACCAGGTCGGCCA 0.602 NA 17 51 0 0 0.00499 0 0 HR 55806 broad.mit.edu 37 8 21977932 21977932 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:21977932G>A uc003xas.2 - 12 3364 c.2699C>T c.(2698-2700)GCG>GTG p.A900V HR_uc003xat.2_Missense_Mutation_p.A900V NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 900 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGGGCTCAGCGCCTGCACCTG 0.632 NA 33 91 0 0 0.003271 0 0 PIWIL2 55124 broad.mit.edu 37 8 22175745 22175745 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:22175745G>C uc003xbn.2 + 20 2508 c.2360G>C c.(2359-2361)AGC>ACC p.S787T PIWIL2_uc011kzf.1_Missense_Mutation_p.S787T|PIWIL2_uc010ltv.2_Missense_Mutation_p.S787T NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 787 Piwi. 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) ATTGTGGACAGCCTGAAGCTA 0.448 NA 26 105 0 0 0.008361 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22863618 22863618 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:22863618G>T uc003xcq.2 + 4 979 c.442G>T c.(442-444)GAC>TAC p.D148Y RHOBTB2_uc003xcp.2_Missense_Mutation_p.D170Y|RHOBTB2_uc011kzp.1_Missense_Mutation_p.D155Y NM_015178 NP_055993 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 isoform 3 148 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding ovary(1)|lung(1) 2 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) GCGCTACGCTGACCTGGAGGC 0.597 NA 101 372 2.14978e-47 4.00887e-47 0.00361 1 0 FBXO16 157574 broad.mit.edu 37 8 28309761 28309761 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:28309761C>A uc003xgu.2 - 6 838 c.740G>T c.(739-741)GGA>GTA p.G247V ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.G234V|FBXO16_uc003xgw.2_Missense_Mutation_p.G234V NM_172366 NP_758954 Q8IX29 FBX16_HUMAN F-box only protein 16 247 ovary(1) 1 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) AGCTTCTTACCCTTGCTGGAC 0.403 NA 26 58 2.44723e-14 3.64625e-14 0.004656 1 0 TMEM66 51669 broad.mit.edu 37 8 29924385 29924385 + Silent SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:29924385A>G uc003xhs.2 - 4 934 c.750T>C c.(748-750)TTT>TTC p.F250F TMEM66_uc003xht.2_Silent_p.F250F|TMEM66_uc003xhu.2_Silent_p.F214F|TMEM66_uc003xhv.2_Silent_p.F78F NM_016127 NP_057211 Q96BY9 TMM66_HUMAN transmembrane protein 66 precursor 250 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) GTTGTCCTGTAAAAGCACTGC 0.398 NA 63 153 0 0 0.00361 0 0 UNC5D 137970 broad.mit.edu 37 8 35606200 35606200 + Missense_Mutation SNP A A C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:35606200A>C uc003xjr.1 + 12 2250 c.1922A>C c.(1921-1923)CAG>CCG p.Q641P UNC5D_uc003xjs.1_Missense_Mutation_p.Q636P|UNC5D_uc003xju.1_Missense_Mutation_p.Q217P NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 641 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AGGACACAGCAGGGCAAATGG 0.438 NA 29 85 0 0 0.002096 0 0 KCNU1 157855 broad.mit.edu 37 8 36691143 36691143 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:36691143C>G uc010lvw.2 + 11 1265 c.1178C>G c.(1177-1179)TCT>TGT p.S393C KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 393 RCK N-terminal.|Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ATTTCTGGATCTGCAATGAAG 0.398 NA 9 26 0 0 0.008291 0 0 KCNU1 157855 broad.mit.edu 37 8 36694374 36694374 + Nonsense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:36694374G>T uc010lvw.2 + 14 1516 c.1429G>T c.(1429-1431)GAA>TAA p.E477* KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 477 RCK N-terminal.|Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CTGCTTTGCTGAATTAAAACT 0.433 NA 35 111 8.4185e-14 1.24493e-13 0.002445 1 0 ANK1 286 broad.mit.edu 37 8 41551533 41551533 + Missense_Mutation SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:41551533G>A uc003xok.2 - 29 3499 c.3415C>T c.(3415-3417)CGG>TGG p.R1139W NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R455W|ANK1_uc003xoi.2_Missense_Mutation_p.R1139W|ANK1_uc003xoj.2_Missense_Mutation_p.R1139W|ANK1_uc003xol.2_Missense_Mutation_p.R1139W|ANK1_uc003xom.2_Missense_Mutation_p.R1180W NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1139 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGGAACTTCCGGCGCCGGGGC 0.642 NA 17 66 0 0 0.006122 0 0 ANK1 286 broad.mit.edu 37 8 41553923 41553923 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:41553923C>A uc003xok.2 - 26 3002 c.2918G>T c.(2917-2919)AGC>ATC p.S973I NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S289I|ANK1_uc003xoi.2_Missense_Mutation_p.S973I|ANK1_uc003xoj.2_Missense_Mutation_p.S973I|ANK1_uc003xol.2_Missense_Mutation_p.S973I|ANK1_uc003xom.2_Missense_Mutation_p.S1014I NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 973 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TATGATCCTGCTGGCCAGGCC 0.716 NA 31 61 1.22384e-17 1.94047e-17 0.002836 1 0 ANK1 286 broad.mit.edu 37 8 41581079 41581079 + Nonsense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:41581079C>A uc003xok.2 - 8 868 c.784G>T c.(784-786)GGA>TGA p.G262* NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Nonsense_Mutation_p.G262*|ANK1_uc003xoj.2_Nonsense_Mutation_p.G262*|ANK1_uc003xol.2_Nonsense_Mutation_p.G262*|ANK1_uc003xom.2_Nonsense_Mutation_p.G295* NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 262 ANK 7.|89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ATCTGGGCTCCCCGATCCAGC 0.652 NA 23 75 1.10513e-12 1.58296e-12 0.002299 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766283 77766283 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:77766283G>C uc003yav.2 + 10 7378 c.6991G>C c.(6991-6993)GCT>CCT p.A2331P ZFHX4_uc003yau.1_Missense_Mutation_p.A2376P|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2331P NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2331 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGCTAAAAACGCTGCTGCCCC 0.512 NA HNSCC(33;0.089) 46 117 0 0 0.00361 0 0 ZFAND1 79752 broad.mit.edu 37 8 82615028 82615028 + Nonsense_Mutation SNP T T A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:82615028T>A uc003ycj.1 - 8 723 c.709A>T c.(709-711)AAG>TAG p.K237* ZFAND1_uc010lzx.1_Nonsense_Mutation_p.K230*|ZFAND1_uc003yck.1_Nonsense_Mutation_p.K130* NM_024699 NP_078975 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 237 zinc ion binding ovary(1) 1 CAATCCTCCTTAGCAATCCAG 0.353 NA 41 108 0 0 0.003214 0 0 RGS22 26166 broad.mit.edu 37 8 101075826 101075826 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:101075826C>G uc003yjb.1 - 8 1365 c.1170G>C c.(1168-1170)GAG>GAC p.E390D RGS22_uc003yja.1_Missense_Mutation_p.E209D|RGS22_uc003yjc.1_Missense_Mutation_p.E378D|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 390 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GTCCAGCGCTCTCATTCTTTG 0.358 NA 6 81 0 0 0.001168 0 0 CSMD3 114788 broad.mit.edu 37 8 113657364 113657364 + Nonsense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:113657364C>T uc003ynu.2 - 20 3443 c.3284G>A c.(3283-3285)TGG>TAG p.W1095* CSMD3_uc003yns.2_Nonsense_Mutation_p.W367*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.W1055*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W991* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1095 Extracellular (Potential).|CUB 6. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATCAACAGTCCATGTACAATT 0.358 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 3 12 0 0 0.009096 0 0 TRPS1 7227 broad.mit.edu 37 8 116430678 116430678 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:116430678C>T uc003ynz.2 - 5 3123 c.2664G>A c.(2662-2664)AGG>AGA p.R888R TRPS1_uc011lhy.1_Silent_p.R892R|TRPS1_uc003yny.2_Silent_p.R901R|TRPS1_uc010mcy.2_Silent_p.R888R NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 888 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) AGCCTCTACGCCTCTGAAACA 0.473 NA Langer-Giedion_syndrome 24 82 0 0 0.003954 0 0 TRPS1 7227 broad.mit.edu 37 8 116631413 116631413 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:116631413C>A uc003ynz.2 - 2 1332 c.873G>T c.(871-873)CTG>CTT p.L291L TRPS1_uc011lhy.1_Silent_p.L295L|TRPS1_uc003yny.2_Silent_p.L304L|TRPS1_uc010mcy.2_Silent_p.L291L NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 291 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) TGATGTCCTGCAGCACACCAG 0.418 NA Langer-Giedion_syndrome 19 48 3.51602e-12 4.95249e-12 0.008871 1 0 COL14A1 7373 broad.mit.edu 37 8 121170441 121170441 + Missense_Mutation SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:121170441G>C uc003yox.2 + 3 426 c.161G>C c.(160-162)AGA>ACA p.R54T NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 54 Fibronectin type-III 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AAGGCTCCAAGAGGGAAATTT 0.363 NA 14 47 0 0 0.00245 0 0 ZFP41 286128 broad.mit.edu 37 8 144332252 144332252 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:144332252C>T uc003yxw.2 + 2 597 c.239C>T c.(238-240)CCT>CTT p.P80L ZFP41_uc003yxv.2_RNA NM_173832 NP_776193 Q8N8Y5 ZFP41_HUMAN zinc finger protein 41 homolog 80 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GTGTTCATTCCTTTTCAGAGG 0.512 NA 48 113 0 0 0.00361 0 0 FAM83H 286077 broad.mit.edu 37 8 144808840 144808840 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:144808840G>T uc003yzk.2 - 5 2860 c.2791C>A c.(2791-2793)CCG>ACG p.P931T FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 931 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTGCGCTCCGGCACGGGGGGC 0.736 NA 7 6 8.12818e-05 9.16352e-05 0.001984 1 0 PLEC 5339 broad.mit.edu 37 8 144998070 144998070 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:144998070C>A uc003zaf.1 - 31 6608 c.6438G>T c.(6436-6438)GAG>GAT p.E2146D PLEC_uc003zab.1_Missense_Mutation_p.E2009D|PLEC_uc003zac.1_Missense_Mutation_p.E2013D|PLEC_uc003zad.2_Missense_Mutation_p.E2009D|PLEC_uc003zae.1_Missense_Mutation_p.E1977D|PLEC_uc003zag.1_Missense_Mutation_p.E1987D|PLEC_uc003zah.2_Missense_Mutation_p.E1995D|PLEC_uc003zaj.2_Missense_Mutation_p.E2036D NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2146 Central fibrous rod domain.|Potential. 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 GCTCGACTTCCTCCAGCGCCG 0.756 NA 3 10 0.00307968 0.0033265 0.00308 1 0 MAF1 84232 broad.mit.edu 37 8 145160669 145160669 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr8:145160669G>T uc003zbc.1 + 2 584 c.83G>T c.(82-84)AGG>ATG p.R28M SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank NM_032272 NP_115648 Q9H063 MAF1_HUMAN MAF1 protein 28 negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent cytoplasm|nucleus 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATCATTGGCAGGTGAGGCAGG 0.562 NA 21 74 3.01185e-09 3.93398e-09 0.003954 1 0 KIAA1432 57589 broad.mit.edu 37 9 5762559 5762559 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:5762559A>G uc003zji.2 + 17 1867 c.1774A>G c.(1774-1776)ATT>GTT p.I592V KIAA1432_uc003zjh.2_Missense_Mutation_p.I592V|KIAA1432_uc003zjl.3_Missense_Mutation_p.I555V|KIAA1432_uc003zjj.1_Missense_Mutation_p.I134V NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 671 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGCAGAGAGCATTATGTTAAA 0.458 NA 36 103 0 0 0.004878 0 0 FREM1 158326 broad.mit.edu 37 9 14812842 14812842 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:14812842A>T uc003zlm.2 - 16 3451 c.2861T>A c.(2860-2862)GTT>GAT p.V954D FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 954 CSPG 6. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) CTCTGAGATAACATCTCTCTG 0.507 NA 78 206 0 0 0.00361 0 0 C9orf93 203238 broad.mit.edu 37 9 15591483 15591483 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:15591483A>T uc003zmd.2 + 5 787 c.472A>T c.(472-474)ATG>TTG p.M158L C9orf93_uc010mih.1_Missense_Mutation_p.M158L|C9orf93_uc003zme.2_Missense_Mutation_p.M65L|C9orf93_uc011lmu.1_Missense_Mutation_p.M158L|C9orf93_uc003zmc.2_Missense_Mutation_p.M158L NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 158 Potential.|Glu-rich. 0 GBM - Glioblastoma multiforme(50;4.84e-07) AAGAGACAATATGATCCAAAA 0.318 NA 3 36 0 0 0.004672 0 0 DDX58 23586 broad.mit.edu 37 9 32487951 32487951 + Silent SNP G G A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:32487951G>A uc003zra.2 - 8 1362 c.1204C>T c.(1204-1206)CTG>TTG p.L402L DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Silent_p.L357L|DDX58_uc011lnr.1_Silent_p.L199L|DDX58_uc010mji.2_Silent_p.L331L NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 402 Helicase ATP-binding. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) ACCTGGGGCAGTGGGCCTGAA 0.403 NA 20 62 0 0 0.010504 0 0 SIT1 27240 broad.mit.edu 37 9 35650214 35650214 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:35650214G>T uc003zxe.1 - 4 421 c.324C>A c.(322-324)GAC>GAA p.D108E SIT1_uc003zxf.1_RNA NM_014450 NP_055265 Q9Y3P8 SIT1_HUMAN SHP2-interacting transmembrane adaptor protein 108 Cytoplasmic (Potential). regulation of T cell activation|signal transduction integral to plasma membrane kinase binding|SH2 domain binding 0 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GATCCTGCTGGTCTGGCTCTG 0.617 NA 21 80 2.21704e-12 3.13771e-12 0.00278 1 0 TLN1 7094 broad.mit.edu 37 9 35718871 35718871 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:35718871C>A uc003zxt.2 - 17 2287 c.1933G>T c.(1933-1935)GGC>TGC p.G645C NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 645 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTGGCCTGGCCCACGTTCCCA 0.572 NA 10 25 1.58986e-06 1.92799e-06 0.008291 1 0 ALDH1B1 219 broad.mit.edu 37 9 38395968 38395969 + Missense_Mutation DNP GA GA TG TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:38395968_38395969GA>TG uc004aay.2 + 2 335_336 c.223_224GA>TG c.(223-225)GAT>TGT p.D75C NM_000692 NP_000683 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1B1 precursor 75 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity skin(1) 1 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) TGACCGGGCTGATGTGGATCGG 0.644 NA 41 123 0 0 0.004672 0 0 FAM75A6 389730 broad.mit.edu 37 9 43629263 43629263 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:43629263C>G uc011lrb.1 - 2 276 c.247G>C c.(247-249)GCT>CCT p.A83P NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 83 integral to membrane 0 AGAGCCTTACCTCTCAGACTG 0.547 NA 65 72 0 0 0.00361 0 0 APBA1 320 broad.mit.edu 37 9 72082745 72082745 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:72082745C>A uc004ahh.2 - 5 1752 c.1476G>T c.(1474-1476)AGG>AGT p.R492S NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 492 PID. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 TCACCTTGATCCTGCTTACGG 0.527 NA 15 141 4.72057e-08 6.00708e-08 0.003954 1 0 TRPM3 80036 broad.mit.edu 37 9 73399169 73399169 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:73399169C>A uc004aid.2 - 7 1244 c.1000G>T c.(1000-1002)GCA>TCA p.A334S TRPM3_uc004ahu.2_Missense_Mutation_p.A164S|TRPM3_uc004ahv.2_Missense_Mutation_p.A164S|TRPM3_uc004ahw.2_Missense_Mutation_p.A206S|TRPM3_uc004ahx.2_Missense_Mutation_p.A181S|TRPM3_uc004ahy.2_Missense_Mutation_p.A206S|TRPM3_uc004ahz.2_Missense_Mutation_p.A181S|TRPM3_uc004aia.2_Missense_Mutation_p.A181S|TRPM3_uc004aib.2_Missense_Mutation_p.A181S|TRPM3_uc004aic.2_Missense_Mutation_p.A334S|TRPM3_uc010mor.2_Missense_Mutation_p.A334S|TRPM3_uc004aie.2_Missense_Mutation_p.A181S|TRPM3_uc004aif.2_Missense_Mutation_p.A206S|TRPM3_uc004aig.2_Missense_Mutation_p.A181S NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 359 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 ACTATGAGTGCCACCACAGGA 0.418 NA 10 30 0.000978159 0.00107416 0.000978 1 0 TMEM2 23670 broad.mit.edu 37 9 74300223 74300223 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:74300223C>A uc011lsa.1 - 24 4582 c.4042G>T c.(4042-4044)GTG>TTG p.V1348L TMEM2_uc011lrz.1_Missense_Mutation_p.V341L|TMEM2_uc010mos.2_Missense_Mutation_p.V1285L|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Missense_Mutation_p.V182L NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 1348 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGTTCAAGCACCCCAAGGCCC 0.443 NA 38 84 6.70999e-13 9.65782e-13 0.004289 1 0 Unknown 0 broad.mit.edu 37 9 78937970 78937970 + Missense_Mutation SNP T T G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:78937970T>G uc004akc.1 + 4 500 c.280T>G c.(280-282)TGC>GGC p.C94G Homo sapiens cDNA FLJ16215 fis, clone CTONG2025610, moderately similar to PC6B. NA TTTCCCAGAGTGCACGCCTGA 0.547 NA 4 14 0 0 0.009096 0 0 TSTD2 158427 broad.mit.edu 37 9 100364923 100364923 + Missense_Mutation SNP T T C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:100364923T>C uc004axn.2 - 10 1867 c.1379A>G c.(1378-1380)CAA>CGA p.Q460R TSTD2_uc004axo.2_Missense_Mutation_p.Q234R NM_139246 NP_640339 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like 460 ovary(2) 2 CCCCTTGTCTTGACATGTGAC 0.537 NA 6 310 0 0 0.004482 0 0 RNF20 56254 broad.mit.edu 37 9 104319803 104319803 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:104319803G>T uc004bbn.2 + 16 2397 c.2307G>T c.(2305-2307)AAG>AAT p.K769N NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 769 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) AGCGTATCAAGTCCAATCAGA 0.453 NA 12 42 5.16669e-11 7.10869e-11 0.000978 1 0 OR13C4 138804 broad.mit.edu 37 9 107288801 107288801 + Silent SNP C C T rs146391633 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:107288801C>T uc011lvn.1 - 1 690 c.690G>A c.(688-690)TCG>TCA p.S230S NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTCCTGTGGCCGAGTTCGTTC 0.413 NA 33 101 0 0 0.00623 0 0 SUSD1 64420 broad.mit.edu 37 9 114820914 114820914 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:114820914C>T uc004bfu.2 - 14 1944 c.1903G>A c.(1903-1905)GAT>AAT p.D635N SUSD1_uc010mui.2_Missense_Mutation_p.D635N|SUSD1_uc010muj.2_Missense_Mutation_p.D635N NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 635 Extracellular (Potential). integral to membrane calcium ion binding 0 CCTTCAGAATCACAAGAAAAT 0.488 NA 19 121 0 0 0.007413 0 0 PTGS1 5742 broad.mit.edu 37 9 125145835 125145835 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:125145835G>T uc004bmg.1 + 8 945 c.810G>T c.(808-810)GTG>GTT p.V270V PTGS1_uc011lys.1_Silent_p.V245V|PTGS1_uc010mwb.1_Silent_p.V161V|PTGS1_uc004bmf.1_Silent_p.V270V|PTGS1_uc004bmh.1_Silent_p.V161V|PTGS1_uc011lyt.1_Silent_p.V161V NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 270 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) AGGCGCCTGTGTTGATGCACT 0.642 NA 10 53 1.61879e-10 2.19667e-10 0.001368 1 0 C9orf98 158067 broad.mit.edu 37 9 135602879 135602879 + Silent SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:135602879C>T uc004cbu.1 - 12 1720 c.1164G>A c.(1162-1164)CGG>CGA p.R388R C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Silent_p.R184R NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 388 Adenylate kinase. cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) TCAGAGTCAGCCGCTCCATGA 0.403 NA 4 161 0 0 0.009096 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713801 138713801 + Silent SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr9:138713801C>A uc004cgr.3 - 11 2706 c.2706G>T c.(2704-2706)CTG>CTT p.L902L CAMSAP1_uc004cgq.3_Silent_p.L792L|CAMSAP1_uc010nbg.2_Silent_p.L624L NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 902 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GCCTTGCCGACAGCGCCTCCA 0.637 NA 49 119 2.47907e-22 4.12946e-22 0.00361 1 0 CPXCR1 53336 broad.mit.edu 37 X 88008704 88008704 + Missense_Mutation SNP C C G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chrX:88008704C>G uc004efd.3 + 3 548 c.289C>G c.(289-291)CCC>GCC p.P97A CPXCR1_uc004efc.3_Missense_Mutation_p.P97A NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 97 intracellular zinc ion binding ovary(3) 3 GACCCCCATTCCCAGAAAATT 0.413 NA 8 13 0 0 0.00308 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177108 89177108 + Silent SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chrX:89177108G>T uc004efe.2 + 2 73 c.24G>T c.(22-24)CCG>CCT p.P8P NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 8 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CGGACGGCCCGGCTGAGACCC 0.527 NA 32 59 9.80977e-26 1.68127e-25 0.004289 1 0 RGAG1 57529 broad.mit.edu 37 X 109694400 109694400 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chrX:109694400A>T uc004eor.1 + 3 801 c.555A>T c.(553-555)TCA>TCT p.S185S RGAG1_uc011msr.1_Silent_p.S185S NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 185 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TGAGCACTTCATCCTCTGAGG 0.473 NA 4 213 0 0 0.009096 0 0 ODZ1 10178 broad.mit.edu 37 X 124097430 124097430 + Missense_Mutation SNP T T G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chrX:124097430T>G uc004euj.2 - 1 237 c.173A>C c.(172-174)AAT>ACT p.N58T ODZ1_uc011muj.1_Missense_Mutation_p.N58T|ODZ1_uc010nqy.2_Missense_Mutation_p.N58T NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 58 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 ACTCTGGCTATTGTAATTCAT 0.368 NA 109 164 0 0 0.00361 0 0 FRMD7 90167 broad.mit.edu 37 X 131228118 131228118 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chrX:131228118G>T uc004ewn.2 - 5 512 c.334C>A c.(334-336)CCA>ACA p.P112T FRMD7_uc011muy.1_Missense_Mutation_p.P97T NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 112 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) TCACTGCATGGAAGCCTTCCT 0.403 NA 74 113 1.43161e-34 2.58038e-34 0.00361 1 0 MAGEA10 4109 broad.mit.edu 37 X 151303881 151303881 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chrX:151303881G>T uc004ffk.2 - 5 620 c.212C>A c.(211-213)CCA>CAA p.P71Q MAGEA10_uc004ffl.2_Missense_Mutation_p.P71Q NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 71 0 Acute lymphoblastic leukemia(192;6.56e-05) AACCTCCTCTGGGGTGCTTGG 0.388 NA 112 163 2.68928e-46 4.98357e-46 0.00361 1 0 L1CAM 3897 broad.mit.edu 37 X 153130579 153130579 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chrX:153130579C>A uc004fjb.2 - 21 2944 c.2836G>T c.(2836-2838)GGC>TGC p.G946C L1CAM_uc004fjc.2_Missense_Mutation_p.G946C|L1CAM_uc010nuo.2_Missense_Mutation_p.G941C NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 946 Extracellular (Potential).|Fibronectin type-III 4. Missing (in HSAS). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGAGCACGCCGTTGTGGCTG 0.711 NA 10 18 1.15088e-07 1.44285e-07 0.004007 1 0 FLNA 2316 broad.mit.edu 37 X 153588257 153588257 + Silent SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chrX:153588257G>C uc004fkk.2 - 23 4071 c.3822C>G c.(3820-3822)GCC>GCG p.A1274A FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.A1274A NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1274 Filamin 11. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACTCAGTGGTGGCCTCACGGA 0.657 NA 41 62 0 0 0.00361 0 0 UBXN11 91544 broad.mit.edu 37 1 26608820 26608843 + In_Frame_Del DEL GGGACTGGGGCCGGGACCGGGACC GGGACTGGGGCCGGGACCGGGACC - rs61775084 by1000genomes TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 GGGACTGGGGCCGGGACCGGGACC GGGACTGGGGCCGGGACCGGGACC - - GGGACTGGGGCCGGGACCGGGACC GGGACTGGGGCCGGGACCGGGACC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC uc001blw.2 - 16 1783_1806 c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC c.(1510-1533)GGTCCCGGTCCCGGCCCCAGTCCCdel p.GPGPGPSP504del UBXN11_uc001blz.1_Splice_Site_p.I469_splice|UBXN11_uc001blv.2_In_Frame_Del_p.GPGPGPSP466del|UBXN11_uc001bly.2_In_Frame_Del_p.GPGPGPSP384del|UBXN11_uc001blx.2_In_Frame_Del_p.GPGPGPSP262del|UBXN11_uc001bma.2_In_Frame_Del_p.GPGPGPSP471del NM_183008 NP_892120 Q5T124 UBX11_HUMAN socius isoform 2 504_511 Pro-rich. cytoplasm|cytoskeleton ovary(1) 1 gtccaggacagggactggggccgggaccgggaccgggactgggg 0.312 NA 11 86 --- --- --- --- NA NA NA NA NA LHX8 431707 broad.mit.edu 37 1 75596416 75596416 + Frame_Shift_Del DEL G G - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:75596416delG uc001dgo.2 + 2 681 c.17delG c.(16-18)AGGfs p.R6fs uc001dgp.1_RNA NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 6 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 ATTCTGAGCAGGGTAAGTTTG 0.448 NA 59 183 --- --- --- --- NA NA NA NA NA ASTN1 460 broad.mit.edu 37 1 176927566 176927566 + Frame_Shift_Del DEL C C - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:176927566delC uc001glc.2 - 10 1863 c.1651delG c.(1651-1653)GTGfs p.V551fs ASTN1_uc001glb.1_Frame_Shift_Del_p.V551fs|ASTN1_uc001gld.1_Frame_Shift_Del_p.V551fs|ASTN1_uc009wwx.1_Frame_Shift_Del_p.V551fs NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 559 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GGTGGAATCACAAAGCTCTTG 0.557 NA 25 61 --- --- --- --- NA NA NA NA NA FMN2 56776 broad.mit.edu 37 1 240371236 240371236 + Frame_Shift_Del DEL C C - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr1:240371236delC uc010pyd.1 + 5 3349 c.3124delC c.(3124-3126)CCCfs p.P1042fs FMN2_uc010pye.1_Frame_Shift_Del_p.P1046fs NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1042 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGCGGGCATACCCCCTCCGCC 0.726 NA 3 6 --- --- --- --- NA NA NA NA NA OR4C16 219428 broad.mit.edu 37 11 55339717 55339717 + Frame_Shift_Del DEL G G - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:55339717delG uc010rih.1 + 1 114 c.114delG c.(112-114)TTGfs p.L38fs NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GAACACTGTTGGGTAATTTGC 0.373 NA 41 164 --- --- --- --- NA NA NA NA NA OR5R1 219479 broad.mit.edu 37 11 56185244 56185244 + Frame_Shift_Del DEL A A - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr11:56185244delA uc010rji.1 - 1 465 c.465delT c.(463-465)GTTfs p.V155fs NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GGAAGAGGGCAACCAGGAAGC 0.453 NA 25 59 --- --- --- --- NA NA NA NA NA TPCN1 53373 broad.mit.edu 37 12 113711406 113711406 + Frame_Shift_Del DEL G G - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr12:113711406delG uc001tuw.2 + 10 1172 c.875delG c.(874-876)CGGfs p.R292fs TPCN1_uc001tux.2_Frame_Shift_Del_p.R364fs|TPCN1_uc010syt.1_Frame_Shift_Del_p.R224fs NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 292 Extracellular (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 TCCTACTCCCGGAACCCCTGG 0.537 NA 79 262 --- --- --- --- NA NA NA NA NA PPP2R5E 5529 broad.mit.edu 37 14 64006248 64006248 + Frame_Shift_Del DEL T T - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:64006248delT uc001xgd.1 - 2 746 c.156delA c.(154-156)AAAfs p.K52fs PPP2R5E_uc001xge.2_Frame_Shift_Del_p.K52fs|PPP2R5E_uc010tsh.1_Frame_Shift_Del_p.K52fs|PPP2R5E_uc001xgf.1_RNA|PPP2R5E_uc001xgg.3_Frame_Shift_Del_p.K52fs NM_006246 NP_006237 Q16537 2A5E_HUMAN epsilon isoform of regulatory subunit B56, 52 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) GAGCCTTACCTTTTAGCAGCG 0.398 NA 30 127 --- --- --- --- NA NA NA NA NA NRXN3 9369 broad.mit.edu 37 14 79181428 79181429 + Frame_Shift_Ins INS - - A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr14:79181428_79181429insA uc001xun.2 + 5 1362_1363 c.871_872insA c.(871-873)CGCfs p.R291fs NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Frame_Shift_Ins_p.R425fs NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 664 EGF-like 2.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CGGCTGGAACCGCTTCATCTGC 0.584 NA 26 85 --- --- --- --- NA NA NA NA NA TSC2 7249 broad.mit.edu 37 16 2114374 2114374 + Frame_Shift_Del DEL G G - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:2114374delG uc002con.2 + 15 1651 c.1545delG c.(1543-1545)CTGfs p.L515fs TSC2_uc010bsd.2_Frame_Shift_Del_p.L515fs|TSC2_uc002coo.2_Frame_Shift_Del_p.L515fs|TSC2_uc010uvv.1_Frame_Shift_Del_p.L478fs|TSC2_uc010uvw.1_Frame_Shift_Del_p.L466fs|TSC2_uc002cop.2_Frame_Shift_Del_p.L315fs NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 515 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) TGGTGGACCTGGCAGAGGGCT 0.602 NA D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 93 136 --- --- --- --- NA NA NA NA NA MAZ 4150 broad.mit.edu 37 16 29821421 29821435 + In_Frame_Del DEL GCGGCGGCAGCGGCA GCGGCGGCAGCGGCA - rs75194070 TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 GCGGCGGCAGCGGCA GCGGCGGCAGCGGCA - - GCGGCGGCAGCGGCA GCGGCGGCAGCGGCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:29821421_29821435delGCGGCGGCAGCGGCA uc002dty.2 + 5 1471_1485 c.1303_1317delGCGGCGGCAGCGGCA c.(1303-1317)GCGGCGGCAGCGGCAdel p.AAAAA440del uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_In_Frame_Del_p.AAAAA417del|MAZ_uc002dtw.2_Splice_Site_p.D94_splice|MAZ_uc002dtx.2_3'UTR|MAZ_uc010bzg.2_In_Frame_Del_p.AAAAA135del|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_3'UTR|MAZ_uc010vdy.1_In_Frame_Del_p.AAAAA41del|uc002duc.1_RNA|PRRT2_uc002dud.2_5'Flank|PRRT2_uc002due.3_5'Flank|PRRT2_uc002duf.1_5'Flank NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 440_444 Poly-Ala. Missing (in Ref. 3). regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 TTGTCCAATggcggcggcagcggcagcggcggcag 0.474 Colon(72;875 1167 15364 30899 37091) NA 16 89 --- --- --- --- NA NA NA NA NA ZNF423 23090 broad.mit.edu 37 16 49672282 49672282 + Frame_Shift_Del DEL C C - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr16:49672282delC uc002efs.2 - 5 1079 c.781delG c.(781-783)GACfs p.D261fs ZNF423_uc010vgn.1_Frame_Shift_Del_p.D144fs NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 261 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) ATGAAGTCGTCCTTCTTGGCT 0.607 NA 30 48 --- --- --- --- NA NA NA NA NA YBX2 51087 broad.mit.edu 37 17 7193314 7193314 + Frame_Shift_Del DEL G G - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:7193314delG uc002gfq.2 - 6 878 c.821delC c.(820-822)CCGfs p.P274fs NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 274 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding 0 GAATCTGGGCGGGGGGACTCG 0.627 NA 34 101 --- --- --- --- NA NA NA NA NA MYH8 4626 broad.mit.edu 37 17 10303967 10303967 + Frame_Shift_Del DEL C C - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:10303967delC uc002gmm.2 - 27 3570 c.3475delG c.(3475-3477)GCAfs p.A1159fs uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1159 Potential. 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 GCAGAAGTTGCCCCACCGGCT 0.607 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 62 195 --- --- --- --- NA NA NA NA NA MYO18A 399687 broad.mit.edu 37 17 27448150 27448150 + Frame_Shift_Del DEL G G - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:27448150delG uc002hdt.1 - 6 1609 c.1451delC c.(1450-1452)GCGfs p.A484fs MYO18A_uc010wbc.1_Frame_Shift_Del_p.A26fs|MYO18A_uc002hds.2_Frame_Shift_Del_p.A26fs|MYO18A_uc010csa.1_Frame_Shift_Del_p.A484fs|MYO18A_uc002hdu.1_Frame_Shift_Del_p.A484fs|MYO18A_uc010wbd.1_Frame_Shift_Del_p.A153fs NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 484 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CATCAGCATCGCCCTGTATGC 0.597 Esophageal Squamous(182;472 2015 7001 15270 22562) NA 13 17 --- --- --- --- NA NA NA NA NA INTS2 57508 broad.mit.edu 37 17 59946733 59946733 + Frame_Shift_Del DEL T T - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr17:59946733delT uc002izn.2 - 22 3139 c.3063delA c.(3061-3063)CCAfs p.P1021fs INTS2_uc002izm.2_Frame_Shift_Del_p.P1013fs NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 1021 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 AAAGTTCACATGGATAACCCT 0.318 NA 3 6 --- --- --- --- NA NA NA NA NA CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 GAA GAA - - GAA GAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr19:45911859_45911861delGAA uc002pbq.1 + 3 1121_1123 c.633_635delGAA c.(631-636)CGGAAG>CGG p.K217del PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_In_Frame_Del_p.K219del NM_012099 NP_036231 O15446 RPA34_HUMAN CD3E antigen, epsilon polypeptide associated 217 Poly-Lys. 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) TGGATGTGCGGAAGAAGAAGAAG 0.581 NA 12 351 --- --- --- --- NA NA NA NA NA HS6ST1 9394 broad.mit.edu 37 2 129026217 129026217 + Frame_Shift_Del DEL C C - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr2:129026217delC uc002tpt.3 - 2 789 c.755delG c.(754-756)CGCfs p.R252fs NM_004807 NP_004798 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 252 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity pancreas(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGCCAGCATGCGCACCTGGCG 0.657 NA 12 44 --- --- --- --- NA NA NA NA NA PDZRN3 23024 broad.mit.edu 37 3 73433097 73433098 + Frame_Shift_Ins INS - - A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr3:73433097_73433098insA uc003dpl.1 - 10 2715_2716 c.2619_2620insT c.(2617-2622)ATCCCGfs p.I873fs PDZRN3_uc011bgh.1_Frame_Shift_Ins_p.I530fs|PDZRN3_uc010hoe.1_Frame_Shift_Ins_p.I571fs|PDZRN3_uc011bgf.1_Frame_Shift_Ins_p.I590fs|PDZRN3_uc011bgg.1_Frame_Shift_Ins_p.I593fs NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 873_874 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GCGTGCGCCGGGATGTGCGCGT 0.649 NA 18 124 --- --- --- --- NA NA NA NA NA UGT3A1 133688 broad.mit.edu 37 5 35988559 35988560 + Frame_Shift_Ins INS - - A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:35988559_35988560insA uc003jjv.1 - 2 345_346 c.188_189insT c.(187-189)TTGfs p.L63fs UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Frame_Shift_Ins_p.L63fs|UGT3A1_uc011cor.1_Intron|UGT3A1_uc003jjy.1_Frame_Shift_Ins_p.L9fs NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 63 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TACCTGGGATCAAAAACTTTCC 0.327 NA 19 43 --- --- --- --- NA NA NA NA NA SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:131676327delT uc003kwq.2 + 9 1679 c.1514delT c.(1513-1515)CTTfs p.L505fs uc003kwr.3_Intron NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 505 Helical; Name=12; (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 NA 9 504 --- --- --- --- NA NA NA NA NA SPINK5 11005 broad.mit.edu 37 5 147443647 147443647 + Frame_Shift_Del DEL C C - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:147443647delC uc003lox.2 + 1 113 c.40delC c.(40-42)CTTfs p.L14fs SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_5'UTR|SPINK5_uc010jgr.2_Frame_Shift_Del_p.L14fs|SPINK5_uc003low.2_Frame_Shift_Del_p.L14fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.L14fs NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 14 anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCTTGGCTCTTTGCCTCAT 0.507 NA 19 160 --- --- --- --- NA NA NA NA NA GPRIN1 114787 broad.mit.edu 37 5 176026665 176026665 + Frame_Shift_Del DEL G G - rs139277418 byFrequency TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr5:176026665delG uc003meo.1 - 2 346 c.171delC c.(169-171)CCCfs p.P57fs NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 57 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGTGTGCCTGGGGGGTGCAG 0.662 NA 44 301 --- --- --- --- NA NA NA NA NA FTSJD2 23070 broad.mit.edu 37 6 37430722 37430722 + Frame_Shift_Del DEL C C - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chr6:37430722delC uc003ons.2 + 13 1696 c.1443delC c.(1441-1443)GTCfs p.V481fs NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN FtsJ methyltransferase domain containing 2 481 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 ACTTGGTGGTCCCCCTGGAGG 0.498 NA 74 168 --- --- --- --- NA NA NA NA NA NONO 4841 broad.mit.edu 37 X 70514295 70514295 + Frame_Shift_Del DEL A A - TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a6af0ab-9055-4b3a-a2cd-7d8202e08701 b31338fd-60d8-48c2-ab4d-cb5064995245 g.chrX:70514295delA uc004dzo.2 + 6 1277 c.567delA c.(565-567)GGAfs p.G189fs BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Frame_Shift_Del_p.G189fs|NONO_uc004dzp.2_Frame_Shift_Del_p.G189fs|NONO_uc011mpv.1_Frame_Shift_Del_p.G100fs|NONO_uc004dzq.2_Frame_Shift_Del_p.G58fs NM_001145408 NP_001138880 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 189 RRM 2.|DBHS. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) ovary(2)|kidney(2) 4 Renal(35;0.156) GGCCCTCAGGAAAAGGCATTG 0.512 NA T TFE3 papillary renal cancer 25 42 --- --- --- --- NA NA NA NA NA