Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample DNAJC11 55735 broad.mit.edu 37 1 6696194 6696194 + Missense_Mutation SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:6696194A>G uc001aof.2 - 15 1743 c.1637T>C c.(1636-1638)CTC>CCC p.L546P DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Missense_Mutation_p.L494P|DNAJC11_uc010nzu.1_Missense_Mutation_p.L456P NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 546 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TGGTATCCGGAGGGCCTCACT 0.607 NaN 0 0 0 0.00308 0 8 38 WASF2 10163 broad.mit.edu 37 1 27736473 27736473 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:27736473G>A uc001bof.1 - 8 1268 c.1052C>T c.(1051-1053)TCA>TTA p.S351L WASF2_uc010ofl.1_Intron NM_006990 NP_008921 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 351 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding skin(2)|ovary(1) 3 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) AGATGGGGGTGAGGGTGGTGG 0.637 NaN 0 0 0 0.020292 0 13 55 PGM1 5236 broad.mit.edu 37 1 64117350 64117350 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:64117350G>A uc001dbh.2 + 9 1504 c.1291G>A c.(1291-1293)GAG>AAG p.E431K PGM1_uc010ooy.1_Missense_Mutation_p.E234K|PGM1_uc010ooz.1_Missense_Mutation_p.E449K NM_002633 NP_002624 P36871 PGM1_HUMAN phosphoglucomutase 1 431 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity ovary(2)|kidney(1) 3 GTATGATTACGAGGAGGTGGA 0.498 NaN 0 0 0 0.006214 0 10 20 GBP6 163351 broad.mit.edu 37 1 89845982 89845982 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:89845982G>A uc001dnf.2 + 6 937 c.663G>A c.(661-663)AGG>AGA p.R221R GBP6_uc010ost.1_Silent_p.R91R NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 221 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) ATTTTCCCAGGGAGTGCATCA 0.408 NaN 0 0 0 0.00308 0 7 74 SLC6A17 388662 broad.mit.edu 37 1 110709723 110709723 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:110709723G>A uc009wfq.2 + 2 633 c.172G>A c.(172-174)GAG>AAG p.E58K NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 58 Cytoplasmic (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GCTGGATGCAGAGGACCGGCC 0.612 NaN 0 0 0 0.014758 0 5 15 BCAS2 10286 broad.mit.edu 37 1 115118216 115118216 + Nonsense_Mutation SNP G G T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:115118216G>T uc001efa.2 - 4 467 c.414C>A c.(412-414)TAC>TAA p.Y138* DENND2C_uc001eez.2_RNA NM_005872 NP_005863 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 138 Potential. mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding large_intestine(1) 1 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTACTCATTGTATACTTTCC 0.274 NaN 1 0 1.56452e-12 0.007413 1.70444e-12 19 49 PHGDH 26227 broad.mit.edu 37 1 120254678 120254678 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:120254678C>T uc001ehz.2 + 1 260 c.33C>T c.(31-33)ATC>ATT p.I11I PHGDH_uc009whl.2_5'UTR|PHGDH_uc009whm.2_5'UTR|PHGDH_uc001eia.2_Silent_p.I11I|PHGDH_uc009whn.2_Silent_p.I11I NM_006623 NP_006614 O43175 SERA_HUMAN phosphoglycerate dehydrogenase 11 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity ovary(1) 1 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) AAGTGCTCATCAGTGACAGCC 0.552 NaN 0 0 0 0.016723 0 13 53 GON4L 54856 broad.mit.edu 37 1 155774915 155774915 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:155774915G>A uc001flz.2 - 11 1567 c.1470C>T c.(1468-1470)CTC>CTT p.L490L GON4L_uc001fly.1_Silent_p.L490L|GON4L_uc009wrh.1_Silent_p.L490L|GON4L_uc001fma.1_Silent_p.L490L|GON4L_uc001fmc.2_Silent_p.L490L|GON4L_uc001fmd.3_Silent_p.L490L|GON4L_uc009wri.2_Silent_p.L76L|GON4L_uc009wrj.1_Silent_p.L5L|GON4L_uc001fme.2_Silent_p.L318L|GON4L_uc001fmf.2_Silent_p.L184L NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 490 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GAAATGCAATGAGACTGTCAT 0.458 NaN 0 0 0 0.007291 0 28 56 BTG2 7832 broad.mit.edu 37 1 203276391 203276391 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:203276391C>T uc001gzq.2 + 2 373 c.302C>T c.(301-303)ACC>ATC p.T101I FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA NM_006763 NP_006754 P78543 BTG2_HUMAN B-cell translocation gene 2 101 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(1)|kidney(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.203) AGCGAGCTGACCCTGTGGGTG 0.642 NaN 0 0 0 0.021553 0 6 43 RGS7 6000 broad.mit.edu 37 1 241094020 241094020 + Missense_Mutation SNP A A T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:241094020A>T uc001hyv.2 - 6 712 c.382T>A c.(382-384)TAT>AAT p.Y128N RGS7_uc010pyh.1_Missense_Mutation_p.Y102N|RGS7_uc010pyj.1_Missense_Mutation_p.Y44N|RGS7_uc001hyu.2_Missense_Mutation_p.Y128N|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.Y128N NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 128 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CACTGACCATAATCTGTGTTT 0.373 NaN 0 0 0 0.01441 0 131 96 OR6F1 343169 broad.mit.edu 37 1 247875460 247875460 + Missense_Mutation SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:247875460A>G uc001idj.1 - 1 598 c.598T>C c.(598-600)TTT>CTT p.F200L NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GCAATCACAAAGGCCACAAGC 0.537 NaN 0 0 0 0.007413 0 20 144 OR2T1 26696 broad.mit.edu 37 1 248569879 248569879 + Missense_Mutation SNP T T A rs138350213 TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:248569879T>A uc010pzm.1 + 1 584 c.584T>A c.(583-585)ATA>AAA p.I195K NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 195 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGATGATTATAGCAGGTTCC 0.537 NaN 0 0 0 0.020292 0 15 139 ARHGAP21 57584 broad.mit.edu 37 10 24873643 24873643 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:24873643G>A uc001isb.2 - 26 6062 c.5575C>T c.(5575-5577)CGC>TGC p.R1859C ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1858 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 GTACTGGTGCGTAGGCGTTCC 0.527 NaN 0 0 0 0.006122 0 18 74 ARHGAP21 57584 broad.mit.edu 37 10 24873919 24873919 + Missense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:24873919C>G uc001isb.2 - 26 5786 c.5299G>C c.(5299-5301)GAT>CAT p.D1767H ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1766 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 TTTAACCGATCTGCTATTTTC 0.463 NaN 0 0 0 0.006122 0 19 86 ZNF438 220929 broad.mit.edu 37 10 31137576 31137576 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:31137576C>T uc010qdz.1 - 7 2193 c.1758G>A c.(1756-1758)CTG>CTA p.L586L ZNF438_uc001ivn.2_Silent_p.L537L|ZNF438_uc010qdy.1_Silent_p.L576L|ZNF438_uc001ivo.3_Silent_p.L150L|ZNF438_uc009xlg.2_Silent_p.L586L|ZNF438_uc001ivp.3_Silent_p.L576L|ZNF438_uc010qea.1_Silent_p.L586L|ZNF438_uc010qeb.1_Silent_p.L586L|ZNF438_uc010qec.1_Silent_p.L150L NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 586 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) GCACTTCTTTCAGATGGCCAA 0.478 NaN 0 0 0 0.008361 0 31 88 LIPA 3988 broad.mit.edu 37 10 91007301 91007301 + Missense_Mutation SNP C C T rs145756015 TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:91007301C>T uc001kga.3 - 2 273 c.105G>A c.(103-105)ATG>ATA p.M35I LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|LIPA_uc009xtq.2_Missense_Mutation_p.M35I NM_000235 NP_000226 P38571 LICH_HUMAN lipase A precursor 35 lipid catabolic process lysosome lipase activity|sterol esterase activity 0 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) TTACCACATTCATGTTTGTTT 0.438 NaN 0 0 0 0.014758 0 4 21 CPXM2 119587 broad.mit.edu 37 10 125526589 125526589 + Missense_Mutation SNP T T C TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:125526589T>C uc001lhk.1 - 10 1704 c.1379A>G c.(1378-1380)AAC>AGC p.N460S CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 460 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) GAGCAGCGTGTTTAAATCAGG 0.527 NaN 0 0 0 0.016723 0 12 57 EBF3 253738 broad.mit.edu 37 10 131640400 131640400 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:131640400G>A uc001lki.1 - 13 1384 c.1325C>T c.(1324-1326)ACG>ATG p.T442M NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 451 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GGCTTGTGACGTCTCTGACAC 0.597 NaN 0 0 0 0.014323 0 23 73 PAOX 196743 broad.mit.edu 37 10 135202547 135202547 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:135202547C>T uc001lmv.2 + 5 1289 c.1209C>T c.(1207-1209)CTC>CTT p.L403L PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.L403L|PAOX_uc001lmy.2_Missense_Mutation_p.S319L|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 541 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) TTCTGTGTCTCACCCAAGTGC 0.502 NaN 0 0 0 0.016723 0 13 210 CCKBR 887 broad.mit.edu 37 11 6290930 6290930 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr11:6290930C>T uc001mcp.2 + 2 376 c.183C>T c.(181-183)TAC>TAT p.Y61Y CCKBR_uc001mcq.2_Translation_Start_Site|CCKBR_uc001mcr.2_Silent_p.Y61Y|CCKBR_uc001mcs.2_Silent_p.Y61Y NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 61 Helical; Name=1; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TCACTCTTTACGCAGTGATCT 0.532 NaN 0 0 0 0.028581 0 17 64 CD6 923 broad.mit.edu 37 11 60781397 60781397 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr11:60781397C>T uc001nqq.2 + 8 1521 c.1298C>T c.(1297-1299)CCC>CTC p.P433L CD6_uc001nqp.2_Missense_Mutation_p.P433L|CD6_uc001nqr.2_Intron|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.P433L NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 433 Cytoplasmic (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 TCAGCCCTCCCCGTAATGGTG 0.557 NaN 0 0 0 0.021553 0 6 29 OMP 4975 broad.mit.edu 37 11 76814045 76814045 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr11:76814045C>T uc010rsk.1 + 1 160 c.160C>T c.(160-162)CGC>TGC p.R54C CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron NM_006189 NP_006180 P47874 OMP_HUMAN olfactory marker protein 54 sensory perception of smell|synaptic transmission 0 GTCTGTGTACCGCCTCAACTT 0.637 NaN 0 0 0 0.021553 0 6 30 IQSEC3 440073 broad.mit.edu 37 12 266745 266745 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr12:266745C>T uc001qhw.1 + 4 1425 c.1419C>T c.(1417-1419)CCC>CCT p.P473P IQSEC3_uc001qhu.1_Silent_p.P473P NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 776 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TCCACAACCCCGACACCATCT 0.602 NaN 0 0 0 0.014758 0 5 84 GUCY2C 2984 broad.mit.edu 37 12 14767865 14767865 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr12:14767865C>T uc001rcd.2 - 26 3120 c.2983G>A c.(2983-2985)GAG>AAG p.E995K NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 995 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 TAGGTAGTCTCATTTCCTCTT 0.483 NaN 0 0 0 0.009096 0 4 21 ANKS1B 56899 broad.mit.edu 37 12 100200436 100200436 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr12:100200436C>T uc001tge.1 - 4 832 c.415G>A c.(415-417)GGA>AGA p.G139R ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.G139R NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 139 ANK 4. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TCTGAGTGTCCATATTGAGCT 0.398 NaN 0 0 0 0.008291 0 11 35 ZCCHC8 55596 broad.mit.edu 37 12 122958344 122958344 + Missense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr12:122958344C>G uc001ucn.2 - 14 1955 c.1824G>C c.(1822-1824)CAG>CAC p.Q608H ZCCHC8_uc001ucl.2_Missense_Mutation_p.Q219H|ZCCHC8_uc001ucm.2_Missense_Mutation_p.Q370H|ZCCHC8_uc009zxp.2_Missense_Mutation_p.Q370H|ZCCHC8_uc009zxq.2_Missense_Mutation_p.Q370H NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 608 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) CTTTTTCCTTCTGACAAAGTG 0.493 NaN 0 0 0 0.01441 0 52 147 FGF14 2259 broad.mit.edu 37 13 102527614 102527614 + Missense_Mutation SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr13:102527614A>G uc001vpe.2 - 2 226 c.226T>C c.(226-228)TAT>CAT p.Y76H FGF14_uc001vpf.2_Missense_Mutation_p.Y81H NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 76 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGCCTGCAATATAACCTGGTC 0.448 NaN 0 0 0 0.016723 0 12 45 MBIP 51562 broad.mit.edu 37 14 36789701 36789701 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr14:36789701C>T uc001wtm.2 - 1 182 c.94G>A c.(94-96)GAA>AAA p.E32K MBIP_uc001wto.2_Missense_Mutation_p.E32K|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.E32K NM_016586 NP_057670 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 isoform 1 32 histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity 0 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) CGAAAGATTTCGTAGAGCACC 0.567 NaN 0 0 0 0.004482 0 9 30 SFTA3 253970 broad.mit.edu 37 14 36946212 36946212 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr14:36946212C>T uc001wtr.2 - 3 857 c.225G>A c.(223-225)ACG>ACA p.T75T SFTA3_uc001wtq.2_RNA|SFTA3_uc001wts.2_RNA NM_001101341 NP_001094811 P0C7M3 SFTA3_HUMAN surfactant associated 3 75 0 GTGACAGCGTCGTGGGATGCA 0.532 NaN 0 0 0 0.006214 0 8 111 DAAM1 23002 broad.mit.edu 37 14 59798179 59798179 + Nonsense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr14:59798179C>T uc001xdz.1 + 14 1938 c.1813C>T c.(1813-1815)CAG>TAG p.Q605* DAAM1_uc001xea.1_Nonsense_Mutation_p.Q605* NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 605 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) AAGCATTCCTCAGCCCACAAA 0.453 NaN 0 0 0 0.01892 0 25 81 CHD9 80205 broad.mit.edu 37 16 53348844 53348844 + Missense_Mutation SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr16:53348844A>G uc002ehb.2 + 35 7636 c.7472A>G c.(7471-7473)AAT>AGT p.N2491S CHD9_uc002egy.2_Missense_Mutation_p.N2475S|CHD9_uc002ehc.2_Missense_Mutation_p.N2476S|CHD9_uc002ehf.2_Missense_Mutation_p.N1589S|CHD9_uc010cbw.2_Missense_Mutation_p.N557S NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2491 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) CCAGTTATTAATCTTAAAGAT 0.428 NaN 0 0 0 0.006122 0 19 54 SLC13A5 284111 broad.mit.edu 37 17 6606437 6606437 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr17:6606437C>T uc002gdj.2 - 5 656 c.568G>A c.(568-570)GGC>AGC p.G190S SLC13A5_uc010vtf.1_Missense_Mutation_p.G190S|SLC13A5_uc010clq.2_Missense_Mutation_p.G147S|SLC13A5_uc002gdk.2_Missense_Mutation_p.G173S|SLC13A5_uc002gdl.1_Missense_Mutation_p.G172S NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 190 integral to membrane citrate transmembrane transporter activity 0 AGAGTGGGGCCTTCAAAAATC 0.627 NaN 0 0 0 0.014758 0 5 56 ACAP1 9744 broad.mit.edu 37 17 7253548 7253548 + Missense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr17:7253548C>G uc002ggd.2 + 20 2270 c.2064C>G c.(2062-2064)ATC>ATG p.I688M KCTD11_uc002gge.3_5'Flank NM_014716 NP_055531 Q15027 ACAP1_HUMAN centaurin beta1 688 Required for interaction with GULP1.|ANK 3. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding breast(2)|large_intestine(1) 3 ACGCTGACATCGTCACCCTGT 0.672 NaN 0 0 0 0.016723 0 14 37 MYO18A 399687 broad.mit.edu 37 17 27447754 27447754 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr17:27447754G>A uc002hdt.1 - 7 1766 c.1608C>T c.(1606-1608)TAC>TAT p.Y536Y MYO18A_uc010wbc.1_Silent_p.Y78Y|MYO18A_uc002hds.2_Silent_p.Y78Y|MYO18A_uc010csa.1_Silent_p.Y536Y|MYO18A_uc002hdu.1_Silent_p.Y536Y|MYO18A_uc010wbd.1_Silent_p.Y205Y NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 536 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) CCAGGAGGGTGTACAGAGCCT 0.577 NaN 0 0 0 0.010729 0 9 59 ABCC3 8714 broad.mit.edu 37 17 48755296 48755296 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr17:48755296C>T uc002isl.2 + 24 3650 c.3570C>T c.(3568-3570)ATC>ATT p.I1190I ABCC3_uc002isn.2_5'Flank NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 1190 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCTACATCATCTCCAACCGGT 0.577 NaN 0 0 0 0.008871 0 21 149 INSR 3643 broad.mit.edu 37 19 7117211 7117211 + Silent SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:7117211A>G uc002mgd.1 - 22 4114 c.4005T>C c.(4003-4005)TGT>TGC p.C1335C INSR_uc002mge.1_Silent_p.C1323C NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1335 Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTCCCTCTGACAGTGCGAGG 0.597 NaN 0 0 0 0.027356 0 29 56 FBN3 84467 broad.mit.edu 37 19 8188893 8188893 + Splice_Site SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:8188893C>G uc002mjf.2 - 22 2753 c.2732_splice c.e22-1 p.D911_splice NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 AATCTCACATCTGCACGGGGG 0.617 NaN 0 0 0 0.004482 0 9 15 CLIP3 25999 broad.mit.edu 37 19 36508845 36508845 + Missense_Mutation SNP C C T rs149100841 TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:36508845C>T uc010eeq.1 - 9 1514 c.1232G>A c.(1231-1233)CGT>CAT p.R411H uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.R411H NM_015526 NP_056341 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 411 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGCCCCGTCACGCTGCTGCAA 0.612 NaN 0 0 0 0.020292 0 14 49 ATP1A3 478 broad.mit.edu 37 19 42486133 42486133 + Missense_Mutation SNP C C A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:42486133C>A uc002osg.2 - 9 1273 c.1119G>T c.(1117-1119)CAG>CAT p.Q373H ATP1A3_uc010xwf.1_Missense_Mutation_p.Q384H|ATP1A3_uc010xwg.1_Missense_Mutation_p.Q343H|ATP1A3_uc010xwh.1_Missense_Mutation_p.Q386H|ATP1A3_uc002osh.2_Missense_Mutation_p.Q373H NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 373 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 TCATGCGGTTCTGAGTGAGGG 0.468 NaN 1 0 0.000442599 0.006214 0.000456218 8 177 C19orf41 126123 broad.mit.edu 37 19 50666025 50666025 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:50666025G>A uc002prp.1 - 2 365 c.278C>T c.(277-279)ACG>ATG p.T93M NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN hypothetical protein LOC126123 precursor 93 Extracellular (Potential). integral to membrane 0 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052) TAAGTGCTGCGTTTGGTTCTT 0.567 NaN 0 0 0 0.010729 0 10 48 SHANK1 50944 broad.mit.edu 37 19 51165497 51165497 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:51165497C>T uc002psx.1 - 23 6230 c.6211G>A c.(6211-6213)GGG>AGG p.G2071R SHANK1_uc002psw.1_Missense_Mutation_p.G1455R NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2071 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) CGCGAGGCCCCTGACAAGGCT 0.692 NaN 0 0 0 0.004672 0 3 28 BRSK1 84446 broad.mit.edu 37 19 55816954 55816954 + Silent SNP G G C TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:55816954G>C uc002qkg.2 + 16 2167 c.1890G>C c.(1888-1890)TCG>TCC p.S630S BRSK1_uc002qkf.2_Silent_p.S646S|BRSK1_uc002qkh.2_Silent_p.S325S NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 630 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCTTTCTGTCGGTGAGGGGCC 0.557 NaN 0 0 0 0.01441 0 55 162 ROCK2 9475 broad.mit.edu 37 2 11367412 11367412 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:11367412G>A uc002rbd.1 - 6 1285 c.836C>T c.(835-837)TCT>TTT p.S279F NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 279 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) AACACCTACAGACCACCAATC 0.363 NaN 0 0 0 0.01441 0 53 113 ADD2 119 broad.mit.edu 37 2 70903954 70903954 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:70903954C>T uc002sgz.2 - 13 2032 c.1567G>A c.(1567-1569)GTC>ATC p.V523I ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.V523I|ADD2_uc002sha.2_Missense_Mutation_p.V217I|ADD2_uc002sgx.2_Missense_Mutation_p.V523I|ADD2_uc010fdt.1_Missense_Mutation_p.V523I|ADD2_uc002shc.1_Missense_Mutation_p.V523I|ADD2_uc002shd.1_Missense_Mutation_p.V217I|ADD2_uc010fdu.1_Missense_Mutation_p.V539I NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 523 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 TCGGCAATGACGCTCGCCAGG 0.602 NaN 0 0 0 0.013537 0 12 53 RGPD4 285190 broad.mit.edu 37 2 108488251 108488251 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:108488251G>A uc010ywk.1 + 20 3873 c.3791G>A c.(3790-3792)AGT>AAT p.S1264N RGPD4_uc002tdu.2_Missense_Mutation_p.S451N|RGPD4_uc010ywl.1_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1264 intracellular transport binding skin(2) 2 GATAGTGTCAGTAGTAGCTCA 0.403 NaN 0 0 0 0.01441 0 122 253 INHBB 3625 broad.mit.edu 37 2 121107201 121107201 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:121107201C>T uc002tmn.2 + 2 1021 c.975C>T c.(973-975)ACC>ACT p.T325T NM_002193 NP_002184 P09529 INHBB_HUMAN inhibin beta B subunit preproprotein 325 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity pancreas(2)|skin(1) 3 Prostate(154;0.122) TAGCACCCACCGGCTACTACG 0.617 NaN 0 0 0 0.024334 0 26 74 XIRP2 129446 broad.mit.edu 37 2 168107280 168107280 + Missense_Mutation SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:168107280A>G uc002udx.2 + 8 9396 c.9378A>G c.(9376-9378)ATA>ATG p.I3126M XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2951M|XIRP2_uc010fpq.2_Missense_Mutation_p.I2904M|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2951 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTATCACAATAGAATCTACTG 0.443 NaN 0 0 0 0.00499 0 18 86 LRP2 4036 broad.mit.edu 37 2 170011072 170011072 + Nonsense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:170011072G>A uc002ues.2 - 66 12406 c.12193C>T c.(12193-12195)CGA>TGA p.R4065* NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4065 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTATATTTTCGAATTCGGACA 0.378 NaN 0 0 0 0.027356 0 29 58 TTN 7273 broad.mit.edu 37 2 179532370 179532370 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:179532370G>A uc010zfk.1 - 6 694 c.146C>T c.(145-147)GCA>GTA p.A49V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; 11243 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) TATACCTTTTGCTAGTTTGGG 0.294 NaN 0 0 0 0.010504 0 18 104 TTN 7273 broad.mit.edu 37 2 179640412 179640412 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:179640412G>A uc010zfg.1 - 28 6403 c.6179C>T c.(6178-6180)ACG>ATG p.T2060M TTN_uc010zfh.1_Missense_Mutation_p.T2014M|TTN_uc010zfi.1_Missense_Mutation_p.T2014M|TTN_uc010zfj.1_Missense_Mutation_p.T2014M|TTN_uc002unb.2_Missense_Mutation_p.T2060M|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2060 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) AGTTGGAATCGTGATTTTGCC 0.423 NaN 0 0 0 0.028581 0 17 110 DNER 92737 broad.mit.edu 37 2 230450646 230450646 + Missense_Mutation SNP T T A rs72987941 byFrequency TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:230450646T>A uc002vpv.2 - 4 922 c.775A>T c.(775-777)ACC>TCC p.T259S DNER_uc010zly.1_5'UTR NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 259 Extracellular (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity p.T259P(1) lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TGAAGGGGGGTCACACTTCGT 0.517 NaN 0 0 0 0.009096 0 4 59 UGT1A10 54575 broad.mit.edu 37 2 234545237 234545237 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:234545237C>T uc002vur.2 + 1 115 c.69C>T c.(67-69)GCC>GCT p.A23A UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.A23A NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 23 MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1). flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) GTGGCTTTGCCGAGGCAGGGA 0.597 NaN 0 0 0 0.021523 0 26 89 MYH7B 57644 broad.mit.edu 37 20 33572681 33572681 + Missense_Mutation SNP G G C TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr20:33572681G>C uc002xbi.1 + 10 891 c.799G>C c.(799-801)GAG>CAG p.E267Q NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 225 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) TCAAATCATCGAGGCCAACCC 0.647 NaN 0 0 0 0.028581 0 15 50 COL6A2 1292 broad.mit.edu 37 21 47531966 47531966 + Silent SNP G G C rs143583433 by1000genomes TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr21:47531966G>C uc002zia.1 + 3 271 c.189G>C c.(187-189)ACG>ACC p.T63T COL6A2_uc002zhy.1_Silent_p.T63T|COL6A2_uc002zhz.1_Silent_p.T63T|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 63 VWFA 1.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AGTCCCCCACGGACATCCTGC 0.612 NaN 0 0 0 0.01892 0 25 55 BCL2L13 23786 broad.mit.edu 37 22 18210180 18210180 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr22:18210180C>T uc002zmw.2 + 7 1556 c.1338C>T c.(1336-1338)GCC>GCT p.A446A BCL2L13_uc002zmx.2_Silent_p.A284A|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Silent_p.A284A|BCL2L13_uc011agk.1_Silent_p.A322A|BCL2L13_uc010gqz.2_Silent_p.A166A|BCL2L13_uc002zmz.2_Silent_p.A284A|BCL2L13_uc002zna.2_Silent_p.A166A NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 446 B; approximate. induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) TGTCCCCCGCCGGTGAGATGA 0.612 NaN 0 0 0 0.012319 0 23 79 EFCAB6 64800 broad.mit.edu 37 22 43930620 43930620 + Missense_Mutation SNP G G C TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr22:43930620G>C uc003bdy.1 - 30 4396 c.4181C>G c.(4180-4182)GCA>GGA p.A1394G EFCAB6_uc003bdz.1_Missense_Mutation_p.A1242G|EFCAB6_uc010gzi.1_Missense_Mutation_p.A1242G NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1394 EF-hand 15.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) GCTTTCCTTTGCTTTTAGCAG 0.473 NaN 0 0 0 0.009096 0 4 53 CELSR1 9620 broad.mit.edu 37 22 46859620 46859620 + Nonsense_Mutation SNP G G T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr22:46859620G>T uc003bhw.1 - 2 4167 c.4167C>A c.(4165-4167)TGC>TGA p.C1389* NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1389 Extracellular (Potential).|EGF-like 2; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGTCCTCGAAGCACTCGCAGG 0.647 NaN 1 0 0.000602214 0.014758 0.000616006 5 10 CELSR1 9620 broad.mit.edu 37 22 46859881 46859881 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr22:46859881G>A uc003bhw.1 - 2 3906 c.3906C>T c.(3904-3906)TTC>TTT p.F1302F NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1302 Extracellular (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGTTGTCGTCGAAGGGCAGCA 0.637 NaN 0 0 0 0.006214 0 10 36 RTP3 83597 broad.mit.edu 37 3 46542025 46542025 + Nonsense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:46542025C>G uc003cps.1 + 2 403 c.335C>G c.(334-336)TCA>TGA p.S112* NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN transmembrane protein 7 112 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) GAGAACATCTCAAGGATCCTG 0.458 NaN 0 0 0 0.021022 0 39 87 DOCK3 1795 broad.mit.edu 37 3 51266209 51266209 + Nonsense_Mutation SNP A A T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:51266209A>T uc011bds.1 + 18 1788 c.1765A>T c.(1765-1767)AAA>TAA p.K589* NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 589 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCGCAGCACCAAAGAGTCTTT 0.517 NaN 0 0 0 0.020292 0 14 43 PARP14 54625 broad.mit.edu 37 3 122419588 122419588 + Missense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:122419588C>G uc003efq.3 + 6 2246 c.2187C>G c.(2185-2187)GAC>GAG p.D729E PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.D446E|PARP14_uc003efs.1_Missense_Mutation_p.D446E NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) AGGCAGTGGACATTGTCAAGC 0.408 NaN 0 0 0 0.004672 0 3 22 MCM2 4171 broad.mit.edu 37 3 127325534 127325534 + Silent SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:127325534C>G uc003ejp.2 + 6 1032 c.975C>G c.(973-975)GTC>GTG p.V325V MCM2_uc011bkm.1_Silent_p.V195V|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.V209V NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 325 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 TCAGCATGGTCAAGTACAACT 0.612 NaN 0 0 0 0.01892 0 26 79 CLSTN2 64084 broad.mit.edu 37 3 140140011 140140011 + Nonsense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:140140011C>T uc003etn.2 + 5 872 c.682C>T c.(682-684)CAG>TAG p.Q228* CLSTN2_uc003etm.2_Nonsense_Mutation_p.Q228* NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 228 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CAAACAACACCAGTATGAGAT 0.502 NaN HNSCC(16;0.037) 0 0 0 0.012213 0 34 97 CLSTN2 64084 broad.mit.edu 37 3 140282913 140282913 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:140282913G>A uc003etn.2 + 16 2783 c.2593G>A c.(2593-2595)GAG>AAG p.E865K NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 865 Cytoplasmic (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CTTCATCCAGGAGACTGAGGC 0.562 NaN HNSCC(16;0.037) 0 0 0 0.027356 0 27 125 FAM131A 131408 broad.mit.edu 37 3 184062488 184062488 + Silent SNP C C T rs150189351 byFrequency TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:184062488C>T uc003fog.2 + 3 2102 c.738C>T c.(736-738)GGC>GGT p.G246G FAM131A_uc003fob.1_Silent_p.G154G|FAM131A_uc003foc.2_Silent_p.G192G|FAM131A_uc003foe.2_Silent_p.G192G NM_144635 NP_653236 Q6UXB0 F131A_HUMAN hypothetical protein LOC131408 precursor 246 extracellular region breast(1) 1 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCTGCTGGGCGATGAGCTGC 0.667 NaN 0 0 0 0.006214 0 9 100 ATP13A4 84239 broad.mit.edu 37 3 193130158 193130158 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:193130158G>A uc003ftd.2 - 27 3125 c.3017C>T c.(3016-3018)GCC>GTC p.A1006V ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 1006 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TACTGTGCAGGCACTAAAAGG 0.398 NaN 0 0 0 0.023175 0 39 124 UBA6 55236 broad.mit.edu 37 4 68514897 68514897 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:68514897G>A uc003hdg.3 - 14 1189 c.1137C>T c.(1135-1137)CTC>CTT p.L379L UBA6_uc003hdh.1_5'UTR NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 379 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 CAGTCCAAGAGAGCCAATGCA 0.393 NaN 0 0 0 0.020292 0 13 65 HSD17B13 345275 broad.mit.edu 37 4 88226451 88226451 + Silent SNP A A T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:88226451A>T uc003hqo.2 - 7 885 c.822T>A c.(820-822)CCT>CCA p.P274P HSD17B13_uc010ikk.2_Silent_p.P238P NM_178135 NP_835236 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 274 extracellular region binding|oxidoreductase activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) AGGCGCGTTCAGGAAGAAACC 0.333 NaN 0 0 0 0.00308 0 8 24 FAT4 79633 broad.mit.edu 37 4 126238269 126238269 + Nonsense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:126238269C>T uc003ifj.3 + 1 703 c.703C>T c.(703-705)CAG>TAG p.Q235* NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 235 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GGGCTACCTTCAGGTAAACGT 0.597 NaN OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010729 0 12 36 FAT4 79633 broad.mit.edu 37 4 126239451 126239451 + Silent SNP C C A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:126239451C>A uc003ifj.3 + 1 1885 c.1885C>A c.(1885-1887)CGG>AGG p.R629R NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 629 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGAGACTGACCGGAGGTCCTT 0.557 NaN 1 0 1.67942e-08 0.006122 1.78605e-08 18 51 ELF2 1998 broad.mit.edu 37 4 139980487 139980487 + Missense_Mutation SNP G G C TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:139980487G>C uc003ihp.1 - 9 1602 c.1396C>G c.(1396-1398)CTG>GTG p.L466V ELF2_uc003ihm.1_Missense_Mutation_p.L418V|ELF2_uc003ihn.1_Missense_Mutation_p.L406V|ELF2_uc003iho.1_Missense_Mutation_p.L389V|ELF2_uc011chc.1_Missense_Mutation_p.L281V NM_201999 NP_973728 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription 478 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 all_hematologic(180;0.162) GATCCAGTCAGATTTGACTTT 0.443 NaN 0 0 0 0.00499 0 18 72 DDX60L 91351 broad.mit.edu 37 4 169344916 169344916 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:169344916G>A uc003irq.3 - 15 2161 c.1940C>T c.(1939-1941)TCG>TTG p.S647L DDX60L_uc003irr.1_Missense_Mutation_p.S647L|DDX60L_uc003irs.1_Missense_Mutation_p.S374L NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 647 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TAAATCTTTCGAAATTTTGCC 0.308 NaN 0 0 0 0.004672 0 3 9 EMB 133418 broad.mit.edu 37 5 49699204 49699204 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:49699204C>T uc003jom.2 - 6 934 c.685G>A c.(685-687)GAG>AAG p.E229K EMB_uc010ivq.2_Missense_Mutation_p.E23K|EMB_uc003jol.2_Missense_Mutation_p.E160K|EMB_uc011cpy.1_Missense_Mutation_p.E179K|EMB_uc010ivr.2_Missense_Mutation_p.E175K NM_198449 NP_940851 Q6PCB8 EMB_HUMAN embigin precursor 229 Extracellular (Potential).|Ig-like V-type 2. integral to membrane 0 Lung SC(58;0.218) Lung NSC(810;0.0795) CCATCTTCCTCCAAAAGTTGT 0.418 NaN 0 0 0 0.016723 0 13 57 IL31RA 133396 broad.mit.edu 37 5 55212787 55212787 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:55212787C>T uc003jql.2 + 15 2199 c.2134C>T c.(2134-2136)CGC>TGC p.R712C IL31RA_uc003jqm.2_Intron|IL31RA_uc003jqn.2_Intron|IL31RA_uc003jqo.2_Missense_Mutation_p.R570C NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 680 Cytoplasmic (Potential). anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) AGAGGGGACCCGCCCAGAAGC 0.483 NaN 0 0 0 0.008291 0 11 49 THBS4 7060 broad.mit.edu 37 5 79375841 79375841 + Nonsense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:79375841G>A uc003kgh.2 + 21 2948 c.2625G>A c.(2623-2625)TGG>TGA p.W875* uc003kgi.3_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 875 TSP C-terminal. 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) ATGTGGGCTGGAAGGACAAGG 0.597 NaN 0 0 0 0.006214 0 9 34 RASA1 5921 broad.mit.edu 37 5 86679590 86679590 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:86679590C>T uc003kiw.2 + 21 2869 c.2751C>T c.(2749-2751)ATC>ATT p.I917I RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.I740I|RASA1_uc011ctv.1_Silent_p.I750I|RASA1_uc011ctw.1_Silent_p.I751I|RASA1_uc010jaw.2_Silent_p.I739I NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 917 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TGTTCAATATCATCTCAGGTA 0.274 NaN 0 0 0 0.021553 0 5 20 PCDHA13 56136 broad.mit.edu 37 5 140263361 140263361 + Missense_Mutation SNP C C A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:140263361C>A uc003lif.2 + 1 1508 c.1508C>A c.(1507-1509)GCG>GAG p.A503E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A503E|PCDHA13_uc003lid.2_Missense_Mutation_p.A503E NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 503 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGAGCGTGCGCTGTCGAGC 0.672 NaN 1 0 0.000132079 0.008871 0.000137198 19 65 ZNF354B 117608 broad.mit.edu 37 5 178310335 178310335 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:178310335G>A uc003mjl.2 + 5 1108 c.882G>A c.(880-882)GTG>GTA p.V294V ZNF354B_uc003mjm.2_Silent_p.V294V NM_058230 NP_478137 Q96LW1 Z354B_HUMAN zinc finger protein 354B 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCATACTGTGGAGAAATGCT 0.378 NaN 0 0 0 0.009535 0 31 81 ADAMTS2 9509 broad.mit.edu 37 5 178579179 178579179 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:178579179C>T uc003mjw.2 - 10 1593 c.1593G>A c.(1591-1593)GGG>GGA p.G531G ADAMTS2_uc011dgm.1_Silent_p.G531G NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 531 Disintegrin. 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) CCAAGGGGGGCCCCTTCTTGG 0.592 NaN 0 0 0 0.021553 0 6 36 OR2J2 26707 broad.mit.edu 37 6 29141694 29141694 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr6:29141694G>A uc011dlm.1 + 1 384 c.282G>A c.(280-282)TCG>TCA p.S94S NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGACCATCTCGTATGCTGGTT 0.473 NaN 0 0 0 0.006214 0 9 184 ENPP1 5167 broad.mit.edu 37 6 132204911 132204911 + Missense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr6:132204911C>G uc011ecf.1 + 22 2328 c.2308C>G c.(2308-2310)CAA>GAA p.Q770E NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 770 Nuclease.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CCAGAGTTTTCAAGGTAAATA 0.274 NaN 0 0 0 0.010504 0 21 44 VWC2 375567 broad.mit.edu 37 7 49951714 49951714 + Missense_Mutation SNP A A T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr7:49951714A>T uc003tot.1 + 4 1467 c.911A>T c.(910-912)TAT>TTT p.Y304F NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 304 negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space 0 CACTGTACTTATGAGGAAGGC 0.493 NaN 0 0 0 0.024245 0 14 40 ZCWPW1 55063 broad.mit.edu 37 7 100013666 100013666 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr7:100013666C>T uc003uut.2 - 8 931 c.683G>A c.(682-684)CGA>CAA p.R228Q ZCWPW1_uc011kjq.1_Missense_Mutation_p.R108Q|ZCWPW1_uc003uur.2_Missense_Mutation_p.R108Q|ZCWPW1_uc003uus.2_Missense_Mutation_p.R108Q|ZCWPW1_uc011kjr.1_Missense_Mutation_p.R228Q|ZCWPW1_uc003uuu.1_Missense_Mutation_p.R228Q|ZCWPW1_uc011kjs.1_Missense_Mutation_p.R108Q NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 228 zinc ion binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTTCTTTAGTCGGTCTTCCTG 0.443 NaN 0 0 0 0.008291 0 11 130 CSMD1 64478 broad.mit.edu 37 8 2876065 2876065 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr8:2876065C>T uc011kwk.1 - 52 8356 c.7966G>A c.(7966-7968)GTG>ATG p.V2656M CSMD1_uc011kwj.1_Missense_Mutation_p.V1985M|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2656 Extracellular (Potential).|Sushi 17. 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) TGAGACCCCACAAGCGTGTAG 0.498 NaN 0 0 0 0.01441 0 69 108 ADAM2 2515 broad.mit.edu 37 8 39604116 39604116 + Missense_Mutation SNP T T A rs142592344 byFrequency TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr8:39604116T>A uc003xnj.2 - 19 2124 c.2049A>T c.(2047-2049)AAA>AAT p.K683N ADAM2_uc003xnk.2_Missense_Mutation_p.K664N|ADAM2_uc011lck.1_Missense_Mutation_p.K620N|ADAM2_uc003xnl.2_Missense_Mutation_p.K527N NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 683 Extracellular (Potential). cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ATCTCATTGGTTTGGAATGGT 0.299 NaN 0 0 0 0.01892 0 23 113 DPY19L4 286148 broad.mit.edu 37 8 95751649 95751649 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr8:95751649G>A uc003ygx.2 + 5 476 c.352G>A c.(352-354)GAA>AAA p.E118K DPY19L4_uc003ygy.2_Missense_Mutation_p.E55K NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 118 integral to membrane ovary(2) 2 Breast(36;3.85e-06) AGGTGTTTACGAACTGACACA 0.313 NaN 0 0 0 0.00308 0 7 103 PDCL 5082 broad.mit.edu 37 9 125585294 125585294 + Splice_Site SNP C C A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr9:125585294C>A uc004bmz.1 - 3 450 c.354_splice c.e3+1 p.K118_splice PDCL_uc004bna.2_Splice_Site_p.K118_splice NM_005388 NP_005379 Q13371 PHLP_HUMAN phosducin-like signal transduction|visual perception 0 CTGCTAATTACCTTCCCACTG 0.478 NaN 1 0 3.54561e-26 0.009718 3.92654e-26 42 60 FAM48B2 170067 broad.mit.edu 37 X 24329557 24329557 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chrX:24329557C>T uc011mjw.1 - 1 1876 c.1876G>A c.(1876-1878)GGT>AGT p.G626S NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN family with sequence similarity 48, member B2 626 0 TGCACTGCACCGGGCCTTGCA 0.622 NaN 0 0 0 0.009096 0 4 31 IL2RG 3561 broad.mit.edu 37 X 70331384 70331384 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chrX:70331384C>T uc004dyw.1 - 1 20 c.6G>A c.(4-6)TTG>TTA p.L2L IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_5'UTR NM_000206 NP_000197 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma precursor 2 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding pancreas(1) 1 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) ATGATGGCTTCAACATGGCGC 0.552 NaN Severe_Combined_Immunodeficiency_X-linked 0 0 0 0.004482 0 9 18 ATP7A 538 broad.mit.edu 37 X 77268496 77268496 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chrX:77268496C>T uc004ecx.3 + 10 2453 c.2293C>T c.(2293-2295)CTT>TTT p.L765F NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 765 Extracellular (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 TTTGATTATTCTTCTAGTTGC 0.423 NaN 0 0 0 0.01441 0 59 61 MAGEC3 139081 broad.mit.edu 37 X 140969332 140969332 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chrX:140969332G>A uc011mwp.1 + 4 659 c.659G>A c.(658-660)GGC>GAC p.G220D NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 220 MAGE 1. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ACATACACGGGCTACTTTCCT 0.438 NaN 0 0 0 0.01441 0 56 47 ELF3 1999 broad.mit.edu 37 1 201983027 201983028 + Frame_Shift_Ins INS - - A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 - A - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:201983027_201983028insA uc001gxg.3 + 7 4068_4069 c.876_877insA c.(874-879)CTCATGfs p.L292fs ELF3_uc001gxi.3_Frame_Shift_Ins_p.L292fs|ELF3_uc001gxh.3_Frame_Shift_Ins_p.L292fs NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 292_293 ETS. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 ACGAGGGCCTCATGAAGTGGGA 0.574 NaN NaN NaN NaN NaN NaN 7 20 --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:237024474delA uc001hyi.3 + 20 2516 c.2093delA c.(2092-2094)CAAfs p.Q698fs MTR_uc010pxw.1_Frame_Shift_Del_p.Q291fs|MTR_uc010pxx.1_Intron|MTR_uc010pxy.1_Frame_Shift_Del_p.Q552fs NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.279 NaN NaN NaN NaN NaN NaN 7 132 --- --- ZWILCH 55055 broad.mit.edu 37 15 66820228 66820229 + Frame_Shift_Ins INS - - A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr15:66820228_66820229insA uc002aqb.2 + 10 1193_1194 c.947_948insA c.(946-948)ACAfs p.T316fs ZWILCH_uc010bhu.1_Frame_Shift_Ins_p.T202fs|ZWILCH_uc002aqa.2_Frame_Shift_Ins_p.T202fs|ZWILCH_uc010bhv.2_Frame_Shift_Ins_p.T202fs NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Zwilch 316 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding ovary(1) 1 GGTGATTCTACAAAAAAAGACA 0.317 NaN NaN NaN NaN NaN NaN 26 46 --- --- TMEM102 284114 broad.mit.edu 37 17 7340636 7340636 + Frame_Shift_Del DEL G G - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr17:7340636delG uc002ggx.1 + 3 1611 c.1338delG c.(1336-1338)GAGfs p.E446fs FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Frame_Shift_Del_p.E446fs|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank NM_178518 NP_848613 Q8N9M5 TM102_HUMAN transmembrane protein 102 446 Cytoplasmic (Potential). regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding 0 Prostate(122;0.173) GAGTGCTCGAGGCCGGGACGT 0.697 NaN NaN NaN NaN NaN NaN 2 4 --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr22:30742328_30742330delCTG uc003ahl.2 - 3 496_498 c.364_366delCAG c.(364-366)CAGdel p.Q122del NM_005877 NP_005868 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa isoform 1 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding ovary(3)|large_intestine(1)|pancreas(1) 5 GCTGGGTGGTCTGCTGCTGCTGC 0.596 NaN NaN NaN NaN NaN NaN 8 97 --- --- TCTA 6988 broad.mit.edu 37 3 49450045 49450047 + In_Frame_Del DEL TAC TAC - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:49450045_49450047delTAC uc003cwv.3 + 1 407_409 c.186_188delTAC c.(184-189)AATACA>AAA p.62_63NT>K RHOA_uc010hku.2_5'Flank|RHOA_uc003cwu.2_5'Flank NM_022171 NP_071503 P57738 TCTA_HUMAN T-cell leukemia translocation altered 62_63 Extracellular (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCTACGGGAATACAGTGACCGGG 0.635 NaN NaN NaN NaN NaN NaN 30 84 --- --- C9orf41 138199 broad.mit.edu 37 9 77642981 77642983 + In_Frame_Del DEL CTC CTC - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr9:77642981_77642983delCTC uc004ajq.2 - 1 328_330 c.175_177delGAG c.(175-177)GAGdel p.E59del C9orf41_uc011lsi.1_RNA NM_152420 NP_689633 Q8N4J0 CI041_HUMAN hypothetical protein LOC138199 59 ovary(1)|skin(1) 2 GCTCAAGCCTCTCCTCCTCCTCC 0.547 NaN NaN NaN NaN NaN NaN 2 4 --- --- SPTAN1 6709 broad.mit.edu 37 9 131388682 131388682 + Frame_Shift_Del DEL T T - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr9:131388682delT uc004bvl.3 + 48 6390 c.6277delT c.(6277-6279)TTCfs p.F2093fs SPTAN1_uc004bvm.3_Frame_Shift_Del_p.F2098fs|SPTAN1_uc004bvn.3_Frame_Shift_Del_p.F2073fs|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2093 Spectrin 22. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GGAGGACCTCTTCCTGACCTT 0.582 NaN NaN NaN NaN NaN NaN 38 90 --- --- STAG2 10735 broad.mit.edu 37 X 123227957 123227974 + In_Frame_Del DEL ATGAGGGAATGGATTTTG ATGAGGGAATGGATTTTG - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 ATGAGGGAATGGATTTTG - ATGAGGGAATGGATTTTG ATGAGGGAATGGATTTTG Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chrX:123227957_123227974delATGAGGGAATGGATTTTG uc004etz.3 + 31 3896_3913 c.3557_3574delATGAGGGAATGGATTTTG c.(3556-3576)AATGAGGGAATGGATTTTGAC>AAC p.EGMDFD1187del STAG2_uc004eua.2_In_Frame_Del_p.EGMDFD1224del|STAG2_uc004eub.2_In_Frame_Del_p.EGMDFD1187del|STAG2_uc004euc.2_In_Frame_Del_p.EGMDFD1224del|STAG2_uc004eud.2_In_Frame_Del_p.EGMDFD1187del|STAG2_uc004eue.2_In_Frame_Del_p.EGMDFD1187del NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 1187_1192 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GAGGATCTTAATGAGGGAATGGATTTTGACACCATGGA 0.353 NaN NaN NaN NaN NaN NaN 10 42 --- ---