Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ASB5 140458 broad.mit.edu 37 4 177142709 177142709 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr4:177142709C>T ENST00000296525.3 - 4 540 c.427G>A c.(427-429)Gca>Aca p.A143T ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.A90T NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 143 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TGGGAGCATGCGTTGAATAAC 0.483000 3 62 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153317834 153317834 + Missense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr1:153317834G>A ENST00000368739.3 - 4 510 c.152C>T c.(151-153)aCg>aTg p.T51M PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Missense_Mutation_p.T55M Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 55 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 p.T55M(1) breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 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) GCGAGAGACCGTGGTGGAGAC 0.587000 22 55 0 0 1 0 0 ZFAND3 60685 broad.mit.edu 37 6 38120150 38120150 + Silent SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr6:38120150G>A ENST00000287218.4 + 6 1116 c.669G>A c.(667-669)ggG>ggA p.G223G ZFAND3_ENST00000463847.1_3'UTR|ZFAND3_ENST00000373391.2_Silent_p.G201G NM_021943.2 NP_068762.1 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 223 DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1) 9 AGCGCATCGGGGAGGGGTGCT 0.567000 4 100 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43439576 43439576 + RNA SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr19:43439576C>T ENST00000446844.3 - 0 499 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GAAGGTGAAACGTCCAGTTAC 0.507000 59 232 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56335069 56335069 + Missense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr12:56335069G>A ENST00000331886.5 + 14 1589 c.1135G>A c.(1135-1137)Gtc>Atc p.V379I DGKA_ENST00000551156.1_Missense_Mutation_p.V379I|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.V379I NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 379 DAGKc. V -> L (in Ref. 2; AAC34802). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity p.V379I(1) breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) CCCACTTCTCGTCTTTGTCAA 0.493000 25 84 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10209888 10209888 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr17:10209888C>T ENST00000418404.3 - 36 5517 c.5354G>A c.(5353-5355)cGg>cAg p.R1785Q MYH13_ENST00000570743.1_Missense_Mutation_p.R1785Q|MYH13_ENST00000252172.4_Missense_Mutation_p.R1785Q Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1785 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTTCTTCATCCGCTCCAGGTG 0.572000 34 108 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89692877 89692877 + Missense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr10:89692877G>A ENST00000371953.3 + 5 1718 c.361G>A c.(361-363)Gca>Aca p.A121T NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 121 Phosphatase tensin-type. A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TCATGTTGCAGCAATTCACTG 0.393000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 17 56 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73649880 73649880 + Silent SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr13:73649880C>T ENST00000377687.4 + 4 1766 c.1230C>T c.(1228-1230)tgC>tgT p.C410C KLF5_ENST00000539231.1_Silent_p.C319C NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 410 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GGGAAGGCTGCGACTGGAGGT 0.572000 20 99 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16006353 16006353 + Silent SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr19:16006353G>A ENST00000221700.5 - 3 401 c.306C>T c.(304-306)tgC>tgT p.C102C CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 102 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding p.C102C(1) NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGTCGGGGTGGCACAAACTGA 0.597000 4 158 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 3 23 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 4 99 0 0 1 0 0 TEX9 374618 broad.mit.edu 37 15 56686955 56686955 + Missense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr15:56686955G>A ENST00000558083.2 + 8 856 c.526G>A c.(526-528)Gaa>Aaa p.E176K RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000560582.1_Missense_Mutation_p.E7K|TEX9_ENST00000537232.1_Missense_Mutation_p.E176K|TEX9_ENST00000352903.2_Missense_Mutation_p.E251K|TEX9_ENST00000561221.2_Missense_Mutation_p.E251K Q8N6V9 TEX9_HUMAN testis expressed 9 251 p.E251Q(1) cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 14 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) GTCTCAAGTAGAAAAATACAA 0.303000 15 27 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 37 0 0 1 0 0 CUL2 8453 broad.mit.edu 37 10 35320290 35320290 + Missense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr10:35320290G>A ENST00000374748.1 - 15 1637 c.1324C>T c.(1324-1326)Cgt>Tgt p.R442C CUL2_ENST00000374749.3_Missense_Mutation_p.R442C|CUL2_ENST00000374746.1_Missense_Mutation_p.R442C|CUL2_ENST00000374742.1_Missense_Mutation_p.R442C|CUL2_ENST00000602371.1_Missense_Mutation_p.R385C|CUL2_ENST00000537177.1_Missense_Mutation_p.R461C|CUL2_ENST00000374751.3_Missense_Mutation_p.R442C Q13617 CUL2_HUMAN cullin 2 442 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 TGAATTAAACGTTTTGCCAGC 0.303000 8 20 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10216566 10216566 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr17:10216566C>T ENST00000418404.3 - 29 4253 c.4090G>A c.(4090-4092)Gcg>Acg p.A1364T MYH13_ENST00000570743.1_Missense_Mutation_p.A1364T|MYH13_ENST00000252172.4_Missense_Mutation_p.A1364T Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1364 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTGGACAGCGCCCTCTGCAGC 0.637000 40 131 0 0 1 0 0 NLE1 54475 broad.mit.edu 37 17 33464148 33464148 + Missense_Mutation SNP T T A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr17:33464148T>A ENST00000442241.4 - 7 739 c.700A>T c.(700-702)Act>Tct p.T234S NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192S|NLE1_ENST00000586869.1_5'UTR NM_001014445.1|NM_018096.3 NP_001014445.1|NP_060566.2 Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 234 nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) CGGCCTGCAGTTGTGTCCCAG 0.632000 8 35 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106602566 106602566 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr10:106602566C>T ENST00000369701.3 + 2 871 c.644C>T c.(643-645)aCg>aTg p.T215M NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 215 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTTATCCTGACGAAGCTGTAT 0.463000 14 31 0 0 1 0 0 NR1H3 10062 broad.mit.edu 37 11 47282968 47282968 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr11:47282968C>T ENST00000467728.1 + 4 1914 c.676C>T c.(676-678)Cgg>Tgg p.R226W NR1H3_ENST00000527949.1_Missense_Mutation_p.R135W|NR1H3_ENST00000441012.2_Missense_Mutation_p.R226W|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226W|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181W|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181W|NR1H3_ENST00000481889.2_Missense_Mutation_p.R181W|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226W Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 226 Ligand-binding (Potential). apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding p.R226W(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 ACAGTGTAACCGGCGCTCCTT 0.627000 7 36 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178559266 178559266 + Missense_Mutation SNP A A T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr5:178559266A>T ENST00000251582.7 - 15 2356 c.2255T>A c.(2254-2256)cTc>cAc p.L752H NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 752 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 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) CTCCTGAATGAGCAGGTGTCT 0.527000 5 37 0 0 1 0 0 PCDHA2 0 broad.mit.edu 37 5 140175891 140175891 + Missense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr5:140175891G>A ENST00000526136.1 + 1 1342 c.1342G>A c.(1342-1344)Gtg>Atg p.V448M PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V448M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V448M|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCCGACGTGAACGACAA 0.647000 21 82 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23346491 23346491 + Missense_Mutation SNP A A G TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr14:23346491A>G ENST00000359591.4 + 7 2588 c.1897A>G c.(1897-1899)Act>Gct p.T633A LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 633 Pro-rich. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) AGCCCCCACTACTGTCCCTGA 0.672000 31 108 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41990468 41990468 + Missense_Mutation SNP C C A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr1:41990468C>A ENST00000372584.1 - 5 6335 c.5321G>T c.(5320-5322)cGc>cTc p.R1774L HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1774L|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1774L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1774L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1774 ZAS2. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGTGTGGGTGCGGATGTGTTT 0.537000 3 73 0.004672 0.004672 1 1 0 ZCCHC12 170261 broad.mit.edu 37 X 117960276 117960276 + Missense_Mutation SNP A A G TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chrX:117960276A>G ENST00000310164.2 + 4 1576 c.1069A>G c.(1069-1071)Aaa>Gaa p.K357E NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 AGGCCACTCAAAAGAAACCTG 0.488000 3 37 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40903766 40903766 + Missense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr19:40903766G>A ENST00000324001.7 - 7 763 c.493C>T c.(493-495)Cgc>Tgc p.R165C PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 165 Arg/Lys-rich (basic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGACGCAGGCGGGAGAACTTG 0.662000 4 12 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17462502 17462502 + Nonsense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr20:17462502G>A ENST00000262545.2 + 12 2019 c.1704G>A c.(1702-1704)tgG>tgA p.W568* PCSK2_ENST00000536609.1_Nonsense_Mutation_p.W533*|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.W549*|PCSK2_ENST00000459871.1_3'UTR NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 568 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAGGCACCTGGACCCTGGAGC 0.632000 12 30 0 0 1 0 0 OR7G1 125962 broad.mit.edu 37 19 9226075 9226075 + Missense_Mutation SNP C C T rs140073167 byFrequency TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr19:9226075C>T ENST00000293614.1 - 1 364 c.365G>A c.(364-366)cGc>cAc p.R122H OR7G1_ENST00000541538.1_Missense_Mutation_p.R122H Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122H(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 GGCCACATAGCGGTCGTAGGC 0.483000 14 70 0 0 1 0 0 CCSER1 401145 broad.mit.edu 37 4 91230726 91230726 + Missense_Mutation SNP A A G TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr4:91230726A>G ENST00000509176.1 + 2 1579 c.1291A>G c.(1291-1293)Aca>Gca p.T431A CCSER1_ENST00000432775.2_Missense_Mutation_p.T431A|CCSER1_ENST00000333691.8_Missense_Mutation_p.T431A NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 TTTTAACAAAACATCACATGG 0.299000 9 38 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7495728 7495728 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr7:7495728C>T ENST00000399429.3 - 16 1458 c.1318G>A c.(1318-1320)Gtg>Atg p.V440M NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 440 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TGGGGTCCCACAGGTCCTATA 0.428000 5 24 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947854 237947854 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr1:237947854C>T ENST00000366574.2 + 90 13159 c.12842C>T c.(12841-12843)aCg>aTg p.T4281M RYR2_ENST00000360064.6_Missense_Mutation_p.T4287M|RYR2_ENST00000542537.1_Missense_Mutation_p.T4265M NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4281 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GACATGGTCACGGCCTTCTTT 0.458000 6 35 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21640404 21640404 + Silent SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr7:21640404C>T ENST00000328843.6 + 16 3142 c.3111C>T c.(3109-3111)caC>caT p.H1037H DNAH11_ENST00000409508.3_Silent_p.H1037H Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1037 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGGAGACCCACACTTACCTCT 0.453000 Kartagener syndrome 27 171 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127641280 127641280 + Missense_Mutation SNP T T A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr5:127641280T>A ENST00000508053.1 - 50 6571 c.5597A>T c.(5596-5598)gAc>gTc p.D1866V FBN2_ENST00000262464.4_Missense_Mutation_p.D1866V P35556 FBN2_HUMAN fibrillin 2 1866 EGF-like 30; 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 NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 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) ATTGATGCAGTCTGCATTCCG 0.438000 4 67 0 0 1 0 0 SULT1B1 27284 broad.mit.edu 37 4 70620861 70620861 + Silent SNP T T C TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr4:70620861T>C ENST00000310613.2 - 2 372 c.75A>G c.(73-75)gcA>gcG p.A25A NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 25 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 CCCAGTTGCTTGCAAAAGCAC 0.388000 23 95 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299212 125299212 + Silent SNP G G T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chrX:125299212G>T ENST00000538699.1 - 2 776 c.696C>A c.(694-696)gcC>gcA p.A232A DCAF12L2_ENST00000360028.2_Silent_p.A232A NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 232 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CGCTGTGCCAGGCAATGCTGC 0.637000 14 20 3.27435e-08 3.49634e-08 1 1 0 SLCO4C1 353189 broad.mit.edu 37 5 101631621 101631621 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr5:101631621C>T ENST00000310954.6 - 1 632 c.346G>A c.(346-348)Gtc>Atc p.V116I NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 116 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CCTTGCGTGACGGCCAAGAGG 0.642000 5 18 0 0 1 0 0 INSIG2 51141 broad.mit.edu 37 2 118854303 118854303 + Silent SNP C C T rs138954785 TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr2:118854303C>T ENST00000245787.4 + 2 377 c.171C>T c.(169-171)ctC>ctT p.L57L INSIG2_ENST00000485520.1_Intron NM_016133.2 NP_057217.2 Q9Y5U4 INSI2_HUMAN insulin induced gene 2 57 ER-nuclear sterol response pathway SREBP-SCAP-Insig complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 ATGTGACGCTCTTTCCACCTG 0.413000 4 99 0 0 1 0 0 GPIHBP1 338328 broad.mit.edu 37 8 144297321 144297321 + Silent SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr8:144297321C>T ENST00000330824.2 + 4 558 c.483C>T c.(481-483)tcC>tcT p.S161S NM_178172.3 NP_835466.1 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 161 cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity lung(2) 2 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GGGGCAGCTCCGAAACTGTGG 0.701000 10 29 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207169615 207169615 + Silent SNP T T A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr2:207169615T>A ENST00000374423.3 + 5 749 c.363T>A c.(361-363)ccT>ccA p.P121P NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 121 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATTCCAGACCTCATAAATCTC 0.453000 3 23 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102647101 102647101 + Missense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr11:102647101G>A ENST00000279441.4 - 6 878 c.842C>T c.(841-843)tCg>tTg p.S281L NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 281 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CTCAGATCCCGAAGGAACAGA 0.478000 16 59 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74042529 74042529 + Silent SNP C C T rs143445466 by1000genomes TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr2:74042529C>T ENST00000409561.1 + 3 1300 c.1179C>T c.(1177-1179)ccC>ccT p.P393P NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 393 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TAGAAATCCCCGATATTCACC 0.448000 7 33 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564344 33564344 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr11:33564344C>T ENST00000321505.4 + 1 524 c.344C>T c.(343-345)gCg>gTg p.A115V KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A115V|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A115V KIAA1549-like ACAGAAACAGCGACCCATGAG 0.522000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 21 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113141771 113141771 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr9:113141771C>T ENST00000401783.2 - 44 10600 c.10264G>A c.(10264-10266)Gta>Ata p.V3422I SVEP1_ENST00000297826.5_Missense_Mutation_p.V1348I|SVEP1_ENST00000374469.1_Missense_Mutation_p.V3399I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3422 Sushi 34. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCATTTTCTACGTGAGCTGGT 0.413000 8 23 0 0 1 0 0 SSX6 0 broad.mit.edu 37 X 47978955 47978955 + Missense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chrX:47978955G>A ENST00000319275.3 + 7 578 c.212G>A c.(211-213)cGt>cAt p.R71H SSX6_ENST00000376932.2_Missense_Mutation_p.R169H large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 CACAGACTGCGTGAGAGAAAG 0.512000 66 90 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 4 71 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 3 24 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189586471 189586471 + Silent SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr3:189586471G>A ENST00000264731.3 + 8 1184 c.1095G>A c.(1093-1095)tcG>tcA p.S365S TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000456148.1_Silent_p.S271S|TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000392460.3_Silent_p.S365S|TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000320472.5_Silent_p.S365S NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 365 Interaction with HIPK2. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) AGCAAGTTTCGGACAGTACAA 0.532000 HNSCC(45;0.13) 16 59 0 0 1 0 0 NLE1 54475 broad.mit.edu 37 17 33464147 33464147 + Translation_Start_Site SNP G G T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr17:33464147G>T ENST00000586869.1 - 0 844 NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192N|NLE1_ENST00000442241.4_Missense_Mutation_p.T234N Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) GCGGCCTGCAGTTGTGTCCCA 0.637000 8 36 0.00307968 0.00312935 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158648254 158648254 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr1:158648254C>T ENST00000368148.3 - 6 929 c.749G>A c.(748-750)cGt>cAt p.R250H SPTA1_ENST00000368147.3_Missense_Mutation_p.R250H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 250 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 p.R250H(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGCCAAACCACGAAGGCGCTC 0.438000 17 46 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79432471 79432471 + Missense_Mutation SNP G G T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr4:79432471G>T ENST00000264895.6 + 64 10264 c.9824G>T c.(9823-9825)tGt>tTt p.C3275F NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3270 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CATGTGCGTTGTGTGGCCAAG 0.507000 8 79 4.68919e-08 4.92365e-08 1 1 0 SPG11 80208 broad.mit.edu 37 15 44949465 44949465 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr15:44949465C>T ENST00000261866.7 - 4 713 c.697G>A c.(697-699)Gta>Ata p.V233I SPG11_ENST00000558319.1_Missense_Mutation_p.V233I|SPG11_ENST00000535302.2_Missense_Mutation_p.V233I|SPG11_ENST00000559193.1_Missense_Mutation_p.V233I|SPG11_ENST00000427534.2_Missense_Mutation_p.V233I NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 233 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ACATGAGCTACATATGTACCA 0.363000 8 32 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887569 9887569 + Missense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr18:9887569G>A ENST00000306084.6 + 2 1292 c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K TXNDC2_ENST00000357775.4_Missense_Mutation_p.E298K|TXNDC2_ENST00000536353.2_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 365 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCCCAGAAGAAGCCATCCA 0.567000 33 89 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178947865 178947865 + Missense_Mutation SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr3:178947865G>A ENST00000263967.3 + 19 2897 c.2740G>A c.(2740-2742)Gga>Aga p.G914R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 914 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTTGGGAATTGGAGATCGTCA 0.358000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 34 133 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31374348 31374348 + Silent SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr16:31374348C>T ENST00000268296.4 + 13 1573 c.1452C>T c.(1450-1452)taC>taT p.Y484Y ITGAX_ENST00000562522.1_Silent_p.Y484Y NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 484 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCCATTACTACGAGCAGACCC 0.677000 31 76 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45547815 45547815 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr21:45547815C>T ENST00000291576.7 + 18 2270 c.2143C>T c.(2143-2145)Cgc>Tgc p.R715C PWP2_ENST00000494310.1_3'UTR NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 715 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TTTCCCAGGGCGCTGCTGGGC 0.478000 12 37 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41791277 41791277 + Missense_Mutation SNP C C A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr8:41791277C>A ENST00000396930.3 - 18 5004 c.4461G>T c.(4459-4461)caG>caT p.Q1487H KAT6A_ENST00000406337.1_Missense_Mutation_p.Q1487H|KAT6A_ENST00000265713.2_Missense_Mutation_p.Q1487H NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1487 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TGGGGTGAGACTGAACGGAGG 0.567000 10 56 2.17888e-05 2.25032e-05 1 1 0 WDR93 56964 broad.mit.edu 37 15 90246288 90246288 + Silent SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr15:90246288G>A ENST00000268130.7 + 3 512 c.411G>A c.(409-411)gcG>gcA p.A137A WDR93_ENST00000558000.1_Silent_p.A137A|WDR93_ENST00000560294.1_Silent_p.A137A NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 137 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) AAATATATGCGTGGGAGAAGC 0.393000 29 87 0 0 1 0 0 COX10 1352 broad.mit.edu 37 17 14095349 14095349 + Missense_Mutation SNP G G C TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr17:14095349G>C ENST00000261643.3 + 6 816 c.739G>C c.(739-741)Gga>Cga p.G247R COX10_ENST00000537334.1_Missense_Mutation_p.G30R|COX10_ENST00000536205.1_Missense_Mutation_p.G55R NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 247 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) TGCTGTTCCGGGAGTTGCCAT 0.498000 18 65 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 4 63 0 0 1 0 0 RCHY1 25898 broad.mit.edu 37 4 76419364 76419364 + Frame_Shift_Del DEL G G - TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr4:76419364delG ENST00000324439.5 - 4 750 c.352delC c.(352-354)atfs p.H118fs RCHY1_ENST00000512706.1_Frame_Shift_Del_p.H96fs|RCHY1_ENST00000380840.2_Frame_Shift_Del_p.H78fs|RCHY1_ENST00000451788.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000513257.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000514021.1_5'UTR NM_001278536.1|NM_001278538.1|NM_001278539.1 NP_001265465.1|NP_001265467.1|NP_001265468.1 Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase 118 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|pancreas(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTCAAACAATGGAAAAAATCT 0.279 2 4 --- --- --- --- SPATA31D5P 0 broad.mit.edu 37 9 84528568 84528568 + RNA DEL A A - TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr9:84528568delA ENST00000527857.1 + 0 217 NR_026851.1 AATGATATCCAAAAGGTAAGG 0.398 3 3 --- --- --- --- KRT2 3849 broad.mit.edu 37 12 53045603 53045604 + In_Frame_Ins INS - - AAGCCGCTGCCACCTCCA rs35124031 TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA ENST00000309680.3 - 1 344_345 c.323_324insTGGAGGTGGCAGCGGCTT c.(322-324)tag>tTGGAGGTGGCAGCGGCTTag p.107_108insLEVAAA NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 107 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) caccaccactgaagccgctgcc 0.629 8 22 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102312241 102312241 + RNA DEL A A - rs59860046 TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr15:102312241delA ENST00000561463.1 + 0 13609 AGTGGCCGGGAAATTTGCTGT 0.592 5 10 --- --- --- --- COTL1 23406 broad.mit.edu 37 16 84651477 84651477 + Frame_Shift_Del DEL T T - TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr16:84651477delT ENST00000262428.4 - 1 206 c.44delA c.(43-45)acfs p.N15fs COTL1_ENST00000564057.1_5'UTR NM_021149.2 NP_066972.1 Q14019 COTL1_HUMAN coactosin-like 1 (Dictyostelium) 15 ADF-H. cytoplasm|cytoskeleton actin binding|enzyme binding endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 6 GCGCACCAGGTTGTACGCCGC 0.726 2 4 --- --- --- --- RP5-1029K10.2 0 broad.mit.edu 37 17 47594374 47594374 + RNA DEL G G - TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e03857-ca5a-4be2-a3a7-cc0f01009cc1 43340bd6-bcc0-4da3-8241-5718570d94dc g.chr17:47594374delG ENST00000514506.1 - 0 246 NR_103773.1 ctgaaatcaaggaggaagcat 0.582 2 4 --- --- --- ---