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 CD3D 915 broad.mit.edu 37 11 118209902 118209902 + Missense_Mutation SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr11:118209902C>T ENST00000300692.4 - 5 627 c.491G>A c.(490-492)gGa>gAa p.G164E CD3D_ENST00000529594.1_Missense_Mutation_p.G91E|CD3D_ENST00000392884.2_Missense_Mutation_p.G120E NM_000732.4 NP_000723.1 P04234 CD3D_HUMAN CD3d molecule, delta (CD3-TCR complex) 164 ITAM. positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway cytoplasm|integral to membrane protein heterodimerization activity large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 9 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CCAGTTTCCTCCAAGGTGGCT 0.507000 27 37 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110984838 110984838 + Missense_Mutation SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr8:110984838C>T ENST00000524391.1 - 3 1672 c.640G>A c.(640-642)Gtc>Atc p.V214I KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 214 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity p.V214I(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) ATGGAGATGACGCCAAAGATA 0.517000 31 24 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12060277 12060277 + Missense_Mutation SNP G G C TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr19:12060277G>C ENST00000482090.1 + 3 1802 c.1384G>C c.(1384-1386)Ggg>Cgg p.G462R ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G480R|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 TAAGGAATGTGGGAAAGCCTT 0.408000 31 49 0 0 1 0 0 SPARC 6678 broad.mit.edu 37 5 151045995 151045995 + Missense_Mutation SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr5:151045995C>T ENST00000231061.4 - 8 974 c.661G>A c.(661-663)Gag>Aag p.E221K SPARC_ENST00000537849.1_5'UTR NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 221 ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding p.E221K(1) central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) TAGTTCTTCTCGAAGTCCCGG 0.557000 5 49 0 0 1 0 0 MSI2 0 broad.mit.edu 37 17 55752422 55752422 + Missense_Mutation SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr17:55752422G>A ENST00000284073.2 + 12 1089 c.880G>A c.(880-882)Gga>Aga p.G294R MSI2_ENST00000442934.2_Missense_Mutation_p.G233R|MSI2_ENST00000416426.2_Missense_Mutation_p.G290R NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 294 cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) CCAGGACTCCGGAGTGGGGAA 0.692000 T HOXA9 CML 30 45 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237666715 237666715 + Silent SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr1:237666715G>A ENST00000366574.2 + 22 2840 c.2523G>A c.(2521-2523)aaG>aaA p.K841K RYR2_ENST00000542537.1_Silent_p.K825K|RYR2_ENST00000360064.6_Silent_p.K839K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 841 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) GAGAGTACAAGCAAGAAAGAA 0.493000 4 53 0 0 1 0 0 SNX33 257364 broad.mit.edu 37 15 75942239 75942239 + Missense_Mutation SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr15:75942239C>T ENST00000308527.5 + 1 1993 c.796C>T c.(796-798)Cgc>Tgc p.R266C NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 266 PX. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 CGTCTACCGGCGCTACAAACA 0.552000 22 57 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892375 2892375 + Silent SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr18:2892375G>A ENST00000254528.3 + 4 2409 c.2250G>A c.(2248-2250)tcG>tcA p.S750S NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 750 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CGCTCAGGTCGCATTCCAGAG 0.483000 28 27 0 0 1 0 0 HRH4 59340 broad.mit.edu 37 18 22057269 22057269 + Missense_Mutation SNP G G T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr18:22057269G>T ENST00000256906.4 + 3 1016 c.916G>T c.(916-918)Gcc>Tcc p.A306S HRH4_ENST00000426880.2_Missense_Mutation_p.A218S NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 306 integral to membrane|plasma membrane histamine receptor activity p.A306S(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) CAAGTCACTGGCCATTCTCTT 0.438000 63 88 5.80444e-35 6.44937e-35 1 1 0 KSR1 8844 broad.mit.edu 37 17 25877722 25877722 + Silent SNP G G A rs56367532 by1000genomes TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr17:25877722G>A ENST00000319524.6 + 2 360 c.360G>A c.(358-360)ccG>ccA p.P120P KSR1_ENST00000268763.6_5'UTR|KSR1_ENST00000398988.3_5'UTR|KSR1_ENST00000509603.2_Silent_p.P120P Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 118 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) ACGTGAGGCCGGAGGTGGTGC 0.607000 11 27 0 0 1 0 0 AMDHD1 144193 broad.mit.edu 37 12 96359480 96359480 + Missense_Mutation SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr12:96359480G>A ENST00000266736.2 + 7 1061 c.955G>A c.(955-957)Gcc>Acc p.A319T NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 319 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 ACAACCTCGAGCCAGGAAGAT 0.383000 27 48 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18875186 18875186 + Missense_Mutation SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr7:18875186C>T ENST00000406451.3 + 20 2704 c.2554C>T c.(2554-2556)Cct>Tct p.P852S HDAC9_ENST00000401921.1_Missense_Mutation_p.P811S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P855S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P852S NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 852 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GAACTTTTTCCCTGGCAGTGG 0.443000 15 21 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111560 55111560 + Missense_Mutation SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr11:55111560C>T ENST00000314721.2 + 1 934 c.884C>T c.(883-885)gCt>gTt p.A295V NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 ATGAAAAATGCTATGAAAAAT 0.318000 14 13 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495339 6495339 + Missense_Mutation SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr19:6495339G>A ENST00000264071.2 - 4 1542 c.1171C>T c.(1171-1173)Cgc>Tgc p.R391C TUBB4A_ENST00000540257.1_Missense_Mutation_p.R391C P04350 TBB4_HUMAN tubulin, beta 4A class IVa 391 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.R391C(1) AAGGCCTTGCGCCGGAACATG 0.612000 50 119 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108427560 108427560 + Splice_Site SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr10:108427560G>A ENST00000263054.6 - 17 2197 c.2189_splice c.e17-1 p.C730_splice SORCS1_ENST00000344440.6_Splice_Site_p.C730_splice|SORCS1_ENST00000369698.1_Splice_Site_p.C265_splice NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 730 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AACCATAGTCGCTGTTAGGAA 0.453000 7 21 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 56 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237774130 237774130 + Silent SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr1:237774130G>A ENST00000366574.2 + 36 5069 c.4752G>A c.(4750-4752)ccG>ccA p.P1584P RYR2_ENST00000542537.1_Silent_p.P1568P|RYR2_ENST00000360064.6_Silent_p.P1582P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1584 4 X approximate repeats. 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) AGTGCCCCCCGCGCCTCCACG 0.537000 6 11 0 0 1 0 0 P2RX4 5025 broad.mit.edu 37 12 121647993 121647993 + Missense_Mutation SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr12:121647993C>T ENST00000337233.4 + 1 334 c.26C>T c.(25-27)gCg>gTg p.A9V P2RX4_ENST00000543171.1_5'UTR|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.A9V|P2RX4_ENST00000541532.1_Missense_Mutation_p.A9V NM_001261397.1|NM_001261398.1|NM_002560.2 NP_001248326.1|NP_001248327.1|NP_002551.2 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 9 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCCGCGCTGGCGGCCTTCCTG 0.716000 4 12 0 0 1 0 0 SRR 63826 broad.mit.edu 37 17 2222193 2222193 + Silent SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr17:2222193G>A ENST00000344595.5 + 4 687 c.369G>A c.(367-369)gcG>gcA p.A123A SRR_ENST00000576848.1_Intron NM_021947.1 NP_068766.1 Q9GZT4 SRR_HUMAN serine racemase 123 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CCTACGGAGCGTCAATTGTAT 0.453000 6 138 0 0 1 0 0 MRPS22 56945 broad.mit.edu 37 3 139071544 139071544 + Missense_Mutation SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr3:139071544G>A ENST00000495075.1 + 8 1220 c.788G>A c.(787-789)cGt>cAt p.R263H MRPS22_ENST00000310776.4_Missense_Mutation_p.R263H|MRPS22_ENST00000465056.1_Missense_Mutation_p.R262H|MRPS22_ENST00000478464.1_Missense_Mutation_p.R222H P82650 RT22_HUMAN mitochondrial ribosomal protein S22 263 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 GACCTTTTACGTTCAACAAGA 0.323000 4 50 0 0 1 0 0 RMDN1 51115 broad.mit.edu 37 8 87486552 87486552 + Silent SNP G G A rs150282224 by1000genomes TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr8:87486552G>A ENST00000406452.3 - 10 1089 c.930C>T c.(928-930)ttC>ttT p.F310F RMDN1_ENST00000430676.2_Silent_p.F280F|RMDN1_ENST00000519966.1_Silent_p.F267F|RMDN1_ENST00000523911.1_Intron NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 TCTTCTCACTGAAACTTGTAA 0.289000 66 33 0 0 1 0 0 SASS6 163786 broad.mit.edu 37 1 100586957 100586957 + Missense_Mutation SNP C C A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr1:100586957C>A ENST00000287482.5 - 5 600 c.460G>T c.(460-462)Gca>Tca p.A154S SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR NM_194292.1 NP_919268.1 Q6UVJ0 SAS6_HUMAN spindle assembly 6 homolog (C. elegans) 154 centriole replication centriole breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 19 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) AAACAGCCTGCGAGAAATTTC 0.294000 14 36 3.27435e-08 3.48335e-08 1 1 0 PCDHB2 0 broad.mit.edu 37 5 140475698 140475698 + Missense_Mutation SNP C C A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr5:140475698C>A ENST00000194155.4 + 1 1472 c.1324C>A c.(1324-1326)Ctg>Atg p.L442M NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 442 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATAACCGTGCTGGTCTCCGA 0.607000 4 158 1 1 1 1 0 RPL10L 140801 broad.mit.edu 37 14 47120583 47120583 + Missense_Mutation SNP A A C TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr14:47120583A>C ENST00000298283.3 - 1 445 c.357T>G c.(355-357)ttT>ttG p.F119L NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 119 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 GGGGTTTTCCAAAGGCACCTC 0.552000 15 21 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235922371 235922371 + Missense_Mutation SNP C C T rs147791378 TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr1:235922371C>T ENST00000389794.3 - 23 6956 c.6782G>A c.(6781-6783)cGt>cAt p.R2261H LYST_ENST00000389793.2_Missense_Mutation_p.R2261H Q99698 LYST_HUMAN lysosomal trafficking regulator 2261 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ACTTGGCCAACGGCCAACAGC 0.478000 13 28 0 0 1 0 0 HADH 3033 broad.mit.edu 37 4 108954337 108954337 + Missense_Mutation SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr4:108954337G>A ENST00000505878.1 + 8 1000 c.727G>A c.(727-729)Gca>Aca p.A243T HADH_ENST00000309522.3_Missense_Mutation_p.A239T|HADH_ENST00000603302.1_Missense_Mutation_p.A256T|HADH_ENST00000403312.1_Missense_Mutation_p.A315T|HADH_ENST00000454409.2_Missense_Mutation_p.A243T|HADH_ENST00000510728.1_3'UTR Q16836 HCDH_HUMAN hydroxyacyl-CoA dehydrogenase 239 fatty acid beta-oxidation mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding p.A239T(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 15 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000168) NADH(DB00157) CTTAGGTGACGCATCCAAAGA 0.453000 33 37 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917689 65917689 + Missense_Mutation SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr15:65917689C>T ENST00000261892.6 + 2 1558 c.1271C>T c.(1270-1272)cCc>cTc p.P424L SLC24A1_ENST00000537259.1_Missense_Mutation_p.P424L|SLC24A1_ENST00000399033.4_Missense_Mutation_p.P424L|SLC24A1_ENST00000339868.6_Missense_Mutation_p.P424L|SLC24A1_ENST00000546330.1_Missense_Mutation_p.P424L|SLC24A1_ENST00000544319.2_Missense_Mutation_p.P424L NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 424 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 AGTCCTAGTCCCTCAGTGCTG 0.632000 18 40 0 0 1 0 0 RP11-19N8.2 0 broad.mit.edu 37 16 33013847 33013847 + RNA SNP T T C TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr16:33013847T>C ENST00000567619.1 - 0 499 GGGGCCTCAGTGAAGGTCTCC 0.592000 15 101 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 34 0 0 1 0 0 SOAT2 8435 broad.mit.edu 37 12 53499389 53499389 + Missense_Mutation SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr12:53499389G>A ENST00000301466.3 + 4 380 c.320G>A c.(319-321)cGc>cAc p.R107H NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 107 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 TTCATCATCCGCAAGTCCCTG 0.507000 3 47 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578443 7578443 + Missense_Mutation SNP A A G TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr17:7578443A>G ENST00000420246.2 - 5 619 c.487T>C c.(487-489)Tac>Cac p.Y163H TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GACTGCTTGTAGATGGCCATG 0.622000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 23 0 0 1 0 0 KRT6B 3854 broad.mit.edu 37 12 52843383 52843383 + Missense_Mutation SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr12:52843383G>A ENST00000252252.3 - 5 994 c.947C>T c.(946-948)aCa>aTa p.T316I NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 316 Linker 12.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) CACCACGGATGTGTCTGAGAT 0.522000 12 101 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196874338 196874338 + Silent SNP A A G TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr1:196874338A>G ENST00000367416.2 + 3 491 c.354A>G c.(352-354)ccA>ccG p.P118P CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 ATTGTAAACCAGGATATGCAA 0.299000 32 61 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36872645 36872645 + Missense_Mutation SNP C C A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr3:36872645C>A ENST00000301807.6 - 21 8544 c.6647G>T c.(6646-6648)tGt>tTt p.C2216F TRANK1_ENST00000428977.2_Missense_Mutation_p.C2216F|TRANK1_ENST00000429976.2_Missense_Mutation_p.C2766F NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2766 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCTCTCCTGACACTCCTCCCT 0.547000 8 84 3.09899e-07 3.22811e-07 1 1 0 CERCAM 51148 broad.mit.edu 37 9 131196779 131196779 + Silent SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr9:131196779G>A ENST00000372842.1 + 12 4332 c.1188G>A c.(1186-1188)acG>acA p.T396T CERCAM_ENST00000372838.4_Silent_p.T474T Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 474 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 CCTACTGGACGCTGGCCTATG 0.662000 24 32 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71485738 71485738 + Silent SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr14:71485738C>T ENST00000304743.2 + 12 3455 c.3009C>T c.(3007-3009)atC>atT p.I1003I PCNX_ENST00000238570.5_Silent_p.I1003I|PCNX_ENST00000439984.3_Silent_p.I892I NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1003 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ATCGTGAGATCCTGGAAAATG 0.373000 43 78 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 6 207 8.12818e-05 8.29407e-05 1 1 0 CYLC1 1538 broad.mit.edu 37 X 83129065 83129065 + Missense_Mutation SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chrX:83129065C>T ENST00000329312.4 + 4 1386 c.1349C>T c.(1348-1350)cCg>cTg p.P450L NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 450 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 GACTCTGAACCGAAGGGAGAT 0.338000 9 3 0 0 1 0 0 MYL12A 10627 broad.mit.edu 37 18 3255826 3255826 + Silent SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr18:3255826C>T ENST00000217652.3 + 4 821 c.426C>T c.(424-426)taC>taT p.Y142Y MYL12A_ENST00000536605.1_Silent_p.Y142Y|MYL12A_ENST00000578611.1_Silent_p.Y142Y|MYL12A_ENST00000579226.1_Silent_p.Y142Y|RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000580887.1_Silent_p.Y148Y|RP13-270P17.1_ENST00000581905.1_RNA NM_006471.2 NP_006462.1 P19105 ML12A_HUMAN myosin, light chain 12A, regulatory, non-sarcomeric 142 EF-hand 3. myosin complex calcium ion binding|protein binding NS(1)|kidney(2)|large_intestine(2) 5 ATGAGCTGTACAGAGAAGCAC 0.423000 8 24 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39112791 39112791 + Missense_Mutation SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr22:39112791G>A ENST00000216044.5 + 4 853 c.620G>A c.(619-621)cGc>cAc p.R207H NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 207 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) GAATCTGGTCGCACCAGCAGT 0.567000 13 41 0 0 1 0 0 SSTR1 0 broad.mit.edu 37 14 38679324 38679324 + Missense_Mutation SNP G G A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr14:38679324G>A ENST00000267377.2 + 3 1347 c.730G>A c.(730-732)Gtg>Atg p.V244M NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 244 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CCTGTGCTACGTGCTCATCAT 0.597000 8 29 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563060 55563060 + Missense_Mutation SNP T T C TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr11:55563060T>C ENST00000335605.1 + 1 29 c.29T>C c.(28-30)aTg>aCg p.M10T NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) AATCTGAGCATGGAGCCCACC 0.403000 51 89 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62133144 62133144 + Silent SNP C C T TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr17:62133144C>T ENST00000433197.2 - 13 1658 c.1563G>A c.(1561-1563)tcG>tcA p.S521S NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 521 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 TGCTGGTGCCCGAGCTCTCTG 0.682000 3 7 0 0 1 0 0 RP11-182I10.3 0 broad.mit.edu 37 1 65451792 65451793 + RNA INS - - T rs113756498 TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr1:65451792_65451793insT ENST00000447748.1 - 0 1775 CAATCTAATTGttttttttttt 0.490 5 9 --- --- --- --- OSBPL10 114884 broad.mit.edu 37 3 31774769 31774769 + Frame_Shift_Del DEL T T - TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr3:31774769delT ENST00000396556.2 - 6 1197 c.1075delA c.(1075-1077)ccfs p.T359fs OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.T295fs NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 359 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GGCTGTGAGGTTTGTTCGTCT 0.448 28 70 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6760766 6760766 + RNA DEL G G - TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr7:6760766delG ENST00000486256.1 + 0 346 NR_002217.1 CCATCTCTCTGTCCTCACAAC 0.517 7 4 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64532708 64532709 + RNA INS - - A TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr7:64532708_64532709insA ENST00000426828.1 + 0 1228 NR_033416.1 AAATGGGGACCAAAAAAAAAAA 0.351 2 4 --- --- --- --- INTS8 55656 broad.mit.edu 37 8 95844240 95844240 + Frame_Shift_Del DEL T T - TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr8:95844240delT ENST00000523731.1 + 6 724 c.591delT c.(589-591)gafs p.D197fs INTS8_ENST00000447247.1_Frame_Shift_Del_p.D197fs NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 197 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) AAGCTGCTGATTCTATTTTGG 0.313 47 32 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409540 22409541 + RNA INS - - C TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr14:22409540_22409541insC ENST00000390441.2 + 0 102 tctctctctctTTTTTTTTTTC 0.426 2 4 --- --- --- --- PIEZO1 9780 broad.mit.edu 37 16 88800373 88800375 + In_Frame_Del DEL TCC TCC - rs59446030 TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr16:88800373_88800375delTCC ENST00000301015.9 - 17 2514_2516 c.2268_2270delGGA c.(2266-2271)gac>ga p.ED756del RP5-1142A6.2_ENST00000440406.2_RNA NM_001142864.2 NP_001136336.2 Q92508 PIEZ1_HUMAN piezo-type mechanosensitive ion channel component 1 756 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1) 10 GTCCCTGGAGtcctcctcctcct 0.685 2 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 8 46 --- --- --- --- ZNF682 91120 broad.mit.edu 37 19 20117285 20117293 + In_Frame_Del DEL TTTATAGGG TTTATAGGG - TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr19:20117285_20117293delTTTATAGGG ENST00000397165.2 - 4 1178_1186 c.1018_1026delCCCTATAAA c.(1018-1026)del p.PYK340del ZNF682_ENST00000397162.1_In_Frame_Del_p.PYK308del|ZNF682_ENST00000597972.1_In_Frame_Del_p.PYK346del|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_In_Frame_Del_p.PYK264del|ZNF682_ENST00000358523.5_In_Frame_Del_p.PYK308del NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 ATTCTTCACATTTATAGGGTTTCTCTCCC 0.378 15 66 --- --- --- --- CLDND2 125875 broad.mit.edu 37 19 51871170 51871170 + Frame_Shift_Del DEL G G - TCGA-G9-A9S4-01A-11D-A41K-08 TCGA-G9-A9S4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d36ef053-e634-4711-9ee4-dac20b166856 3aac36e8-fe99-4218-9fb8-dba6dd6ea066 g.chr19:51871170delG ENST00000291715.1 - 2 705 c.280delC c.(280-282)agfs p.Q94fs CTD-2616J11.11_ENST00000600067.1_Frame_Shift_Del_p.Q29fs|CLDND2_ENST00000601435.1_Frame_Shift_Del_p.Q94fs NM_152353.2 NP_689566.1 Q8NHS1 CLDN2_HUMAN claudin domain containing 2 94 integral to membrane endometrium(1)|kidney(1)|large_intestine(2) 4 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CTCGTGGTCTGGCCCCGCAGC 0.716 7 12 --- --- --- ---