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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
KRT2	3849	broad.mit.edu	37	12	53045775	53045777	+	In_Frame_Del	DEL	CCG	CCG	-	rs11835758	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	CCG	CCG	-	-	CCG	CCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:53045775_53045777delCCG	ENST00000309680.3	-	1	171_173	c.150_152delCGG	c.(148-153)ggcggg>ggg	p.50_51GG>G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	50	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)		ACCGAAGCCCCCGCCACCACCAC	0.621		NA											False	1	True	12:53045775	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
TP53	7157	broad.mit.edu	37	17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:7577558delG	ENST00000420246.2	-	7	855	c.723delC	c.(721-723)tccfs	p.S241fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		CGCCCATGCAGGAACTGTTAC	0.577		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)			False	2	False	17:7577558	0
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs6425573		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316		NA											False	1	True	1:179504035	0
PRKD2	25865	broad.mit.edu	37	19	47201092	47201093	+	Frame_Shift_Ins	INS	-	-	ATGTA			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:47201092_47201093insATGTA	ENST00000291281.4	-	8	1361_1362	c.1136_1137insTACAT	c.(1135-1137)atcfs	p.-379fs	PRKD2_ENST00000601806.1_Frame_Shift_Ins_p.-222fs|PRKD2_ENST00000600194.1_Frame_Shift_Ins_p.-222fs|PRKD2_ENST00000595515.1_Frame_Shift_Ins_p.-379fs|PRKD2_ENST00000433867.1_Frame_Shift_Ins_p.-379fs			Q9BZL6	KPCD2_HUMAN	protein kinase D2	NA					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCATTAGGGGGATGTACCCCAG	0.574		NA											False	1	True	19:47201092	0
ZNF385B	151126	broad.mit.edu	37	2	180308144	180308145	+	In_Frame_Ins	INS	-	-	TAGGAAGTTGAGAAA			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:180308144_180308145insTAGGAAGTTGAGAAA	ENST00000410066.1	-	10	1851_1852	c.1248_1249insTTTCTCAACTTCCTA	c.(1246-1251)ttcctg>ttcTTTCTCAACTTCCTActg	p.416_417FL>FFLNFLL	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_In_Frame_Ins_p.314_315FL>FFLNFLL|ZNF385B_ENST00000336917.5_In_Frame_Ins_p.314_315FL>FFLNFLL|ZNF385B_ENST00000409343.1_In_Frame_Ins_p.340_341FL>FFLNFLL	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	416						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GGTGAGGACAGGAAGGCTGGGG	0.579		NA											False	0	False	2:180308144	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs141544276		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548		NA											False	1	True	4:40434705	0
KIAA0922	23240	broad.mit.edu	37	4	154533457	154533458	+	In_Frame_Ins	INS	-	-	CTTCATGAG			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:154533457_154533458insCTTCATGAG	ENST00000409959.3	+	26	3521_3522	c.3472_3473insCTTCATGAG	c.(3472-3474)aag>aCTTCATGAGag	p.1158_1158K>TS*E	KIAA0922_ENST00000440693.1_In_Frame_Ins_p.1074_1074K>TS*E|KIAA0922_ENST00000409663.3_In_Frame_Ins_p.1157_1157K>TS*E	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1157						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGAAAATTTGAAGAAGGTGGAC	0.351		NA											False	0	False	4:154533457	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
ACAT2	39	broad.mit.edu	37	6	160199713	160199718	+	In_Frame_Del	DEL	TAGCCT	TAGCCT	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	TAGCCT	TAGCCT	-	-	TAGCCT	TAGCCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:160199713_160199718delTAGCCT	ENST00000367048.4	+	9	2806_2811	c.1046_1051delTAGCCT	c.(1045-1053)atagccttg>atg	p.349_351IAL>M	TCP1_ENST00000321394.7_3'UTR|ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_In_Frame_Del_p.378_380IAL>M	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	349						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGAGGGGCTATAGCCTTGGGCCACCC	0.456		NA											False	1	False	6:160199713	0
RBM12B	389677	broad.mit.edu	37	8	94747495	94747496	+	Frame_Shift_Del	DEL	TA	TA	-	rs111589624	by1000genomes	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:94747495_94747496delTA	ENST00000399300.2	-	3	1356_1357	c.1143_1144delTA	c.(1141-1146)gataggfs	p.DR381fs	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Frame_Shift_Del_p.DR381fs	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	381							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGTCCGGGCCTATCTCTCTCTA	0.361		NA											False	1	True	8:94747495	0
ESR2	0	broad.mit.edu	37	14	64735549	64735549	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:64735549G>T	ENST00000557772.1	-	3	615	c.616C>A	c.(616-618)Ctt>Att	p.L206I	ESR2_ENST00000542956.1_Missense_Mutation_p.L206I|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000553796.1_Missense_Mutation_p.L206I|ESR2_ENST00000358599.5_Missense_Mutation_p.L206I|ESR2_ENST00000341099.4_Missense_Mutation_p.L206I|ESR2_ENST00000554572.1_Missense_Mutation_p.L206I|ESR2_ENST00000555278.1_Missense_Mutation_p.L206I|ESR2_ENST00000267525.6_Missense_Mutation_p.L206I|ESR2_ENST00000353772.3_Missense_Mutation_p.L206I|ESR2_ENST00000357782.2_Missense_Mutation_p.L206I	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	206					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CACTTCCGAAGTCGGCAGGCC	0.478		NA											False	0	False	14:64735549	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA											False	0	False	2:109371498	0
PCDHA2	0	broad.mit.edu	37	5	140176342	140176342	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:140176342A>G	ENST00000526136.1	+	1	1793	c.1793A>G	c.(1792-1794)gAc>gGc	p.D598G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D598G|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D598G	NM_018905.2	NP_061728.1				NA										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)			CGCGCAGTGGACGCTGACTCA	0.662		NA											False	0	False	5:140176342	0
ZNF114	163071	broad.mit.edu	37	19	48789965	48789965	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:48789965G>A	ENST00000595607.1	+	6	1578	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	ZNF114_ENST00000315849.1_Missense_Mutation_p.E362K|ZNF114_ENST00000600687.1_Missense_Mutation_p.E362K|ZNF114_ENST00000597695.1_Missense_Mutation_p.E328K			Q8NC26	ZN114_HUMAN	zinc finger protein 114	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GAAGCCCTACGAATGTGAAGA	0.388		NA											False	0	False	19:48789965	0
NAPEPLD	222236	broad.mit.edu	37	7	102760426	102760426	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:102760426G>A	ENST00000417955.1	-	3	693	c.539C>T	c.(538-540)gCg>gTg	p.A180V	NAPEPLD_ENST00000341533.4_Missense_Mutation_p.A180V|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.A253V|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.A180V			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	180					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GATAAGGACCGCATCTATTGG	0.463		NA											False	0	False	7:102760426	0
ROCK1	6093	broad.mit.edu	37	18	18562785	18562785	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:18562785C>T	ENST00000399799.2	-	21	3438	c.2498G>A	c.(2497-2499)aGa>aAa	p.R833K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	NA	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCATTTCCTCTATACTGTCT	0.333		NA											False	0	False	18:18562785	0
PARP12	64761	broad.mit.edu	37	7	139756817	139756817	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:139756817T>A	ENST00000263549.3	-	3	1472	c.599A>T	c.(598-600)gAt>gTt	p.D200V		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	200						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATTAGAGAAATCATGGGATCT	0.438		NA											False	0	True	7:139756817	0
NBPF10	100132406	broad.mit.edu	37	1	145325997	145325997	+	Silent	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1290										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468		NA											False	0	False	1:145325997	0
CCDC102A	92922	broad.mit.edu	37	16	57559977	57559977	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:57559977C>T	ENST00000258214.2	-	3	894	c.648G>A	c.(646-648)gaG>gaA	p.E216E		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	216										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GGCTGCGCGCCTCCCAGCAGT	0.716		NA											False	0	True	16:57559977	0
GUSBP11	0	broad.mit.edu	37	22	24002072	24002072	+	RNA	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr22:24002072G>A	ENST00000455485.1	-	0	3339				KB-1572G7.2_ENST00000421064.1_RNA|AP000347.2_ENST00000417194.1_RNA						NA											NA						CATGAAATCGGCAAAATTCCA	0.443		NA											False	0	False	22:24002072	0
UGT2B17	7367	broad.mit.edu	37	4	69403349	69403349	+	Silent	SNP	C	C	T	rs146629248	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:69403349C>T	ENST00000317746.2	-	6	1629	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	529					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R529R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATAACTAATCCCTTTTCTTCT	0.408		NA											False	0	True	4:69403349	0
TNNT1	7138	broad.mit.edu	37	19	55653261	55653261	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:55653261C>T	ENST00000588981.1	-	7	360	c.156G>A	c.(154-156)ccG>ccA	p.P52P	TNNT1_ENST00000536926.1_Silent_p.P41P|TNNT1_ENST00000291901.8_Silent_p.P52P|TNNT1_ENST00000587758.1_Silent_p.P41P|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000356783.5_Silent_p.P41P|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000592920.1_5'UTR	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	52					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGATCTTTGGCGGGATCAAAG	0.597		NA											False	0	True	19:55653261	0
MDM1	56890	broad.mit.edu	37	12	68720759	68720759	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:68720759G>A	ENST00000303145.7	-	3	262	c.176C>T	c.(175-177)cCt>cTt	p.P59L	MDM1_ENST00000430606.2_Missense_Mutation_p.P59L|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000411698.2_Missense_Mutation_p.P59L|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	59						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GTCATGGTAAGGGACTCTTCT	0.413		NA											False	0	True	12:68720759	0
AFF2	2334	broad.mit.edu	37	X	148072839	148072839	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:148072839C>T	ENST00000370460.2	+	21	4392	c.3913C>T	c.(3913-3915)Cgc>Tgc	p.R1305C	AFF2_ENST00000286437.5_Missense_Mutation_p.R946C|AFF2_ENST00000342251.3_Missense_Mutation_p.R1272C|AFF2_ENST00000370457.5_Missense_Mutation_p.R1270C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1305					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTGGCTGCGCATCGATGC	0.542		NA											False	0	False	X:148072839	0
VPS13D	55187	broad.mit.edu	37	1	12516159	12516159	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:12516159G>A	ENST00000358136.3	+	66	12569	c.12439G>A	c.(12439-12441)Gta>Ata	p.V4147I	VPS13D_ENST00000496628.1_Intron|VPS13D_ENST00000356315.4_Missense_Mutation_p.V4122I|VPS13D_ENST00000543766.1_Missense_Mutation_p.V145I	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4146					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAACACCTTGTAGCCGGCAT	0.532		NA											False	0	False	1:12516159	0
C1orf127	148345	broad.mit.edu	37	1	11007918	11007918	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:11007918C>T	ENST00000377004.4	-	12	2273	c.2274G>A	c.(2272-2274)acG>acA	p.T758T	C1orf127_ENST00000377008.4_Silent_p.T591T	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	609										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TCAGGGTTTGCGTGGATGGAG	0.672		NA											False	0	False	1:11007918	0
PLIN4	729359	broad.mit.edu	37	19	4511859	4511859	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:4511859T>C	ENST00000301286.3	-	3	2070	c.2071A>G	c.(2071-2073)Atg>Gtg	p.M691V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	691	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCCCCCATGAGCCCAGTA	0.592		NA											False	0	False	19:4511859	0
LCP1	3936	broad.mit.edu	37	13	46730641	46730641	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr13:46730641C>T	ENST00000398576.2	-	8	811	c.423G>A	c.(421-423)cgG>cgA	p.R141R	LCP1_ENST00000323076.2_Silent_p.R141R			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	141	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	p.R141R(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGATGACATGCCGACAATCAG	0.383		NA	T	BCL6	NHL								False	0	False	13:46730641	0
AGBL2	79841	broad.mit.edu	37	11	47681762	47681762	+	Missense_Mutation	SNP	G	G	A	rs138759912	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:47681762G>A	ENST00000525123.1	-	19	2957	c.2672C>T	c.(2671-2673)gCg>gTg	p.A891V	AGBL2_ENST00000298861.4_Missense_Mutation_p.A891V|AGBL2_ENST00000357610.3_Missense_Mutation_p.A893V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	891					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TGGGTATGCCGCCATGGCAGC	0.507		NA											False	0	False	11:47681762	0
AE000661.37	0	broad.mit.edu	37	14	22928115	22928115	+	RNA	SNP	T	T	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:22928115T>A	ENST00000514473.2	-	0	225				TRDJ3_ENST00000390476.1_RNA						NA											NA						ACAGATGTTTTTCGGAACTGG	0.522		NA											False	0	True	14:22928115	0
CNOT3	4849	broad.mit.edu	37	19	54649652	54649652	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:54649652C>T	ENST00000406403.1	+	8	2313	c.710C>T	c.(709-711)gCg>gTg	p.A237V	CNOT3_ENST00000358389.3_Missense_Mutation_p.A56V|CNOT3_ENST00000221232.5_Missense_Mutation_p.A237V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	237					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGCACAGGCGCTGGTCGCC	0.632		NA											False	0	False	19:54649652	0
LRP1	4035	broad.mit.edu	37	12	57578958	57578958	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:57578958A>G	ENST00000243077.3	+	40	6899	c.6433A>G	c.(6433-6435)Atc>Gtc	p.I2145V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2145					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTTAAAGACATCAAAGTCTT	0.627		NA											False	0	False	12:57578958	0
ATP10A	57194	broad.mit.edu	37	15	25953443	25953443	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:25953443G>A	ENST00000356865.6	-	11	2460	c.2349C>T	c.(2347-2349)gaC>gaT	p.D783D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	783					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCCTCTGGCGTCAACTAGGT	0.502		NA											False	0	False	15:25953443	0
NPFFR1	64106	broad.mit.edu	37	10	72025941	72025941	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:72025941G>A	ENST00000277942.6	-	2	213	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	NA						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						TGCATGTGCCGGTTCTTGAGC	0.562		NA											False	0	False	10:72025941	0
KCNH6	81033	broad.mit.edu	37	17	61611293	61611293	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:61611293C>T	ENST00000583023.1	+	5	733	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH6_ENST00000314672.5_Missense_Mutation_p.A241V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A241V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A241V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A241V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	241					regulation of transcription, DNA-dependent|signal transduction			p.A241V(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AAGCTGCAGGCGCCGCGCATC	0.672		NA											False	0	False	17:61611293	0
AKT2	208	broad.mit.edu	37	19	40762881	40762881	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:40762881C>T	ENST00000392038.2	-	3	425	c.127G>A	c.(127-129)Gag>Aag	p.E43K	AKT2_ENST00000424901.1_Missense_Mutation_p.E43K|AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000311278.6_Missense_Mutation_p.E43K	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	43	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TCAGGGGCCTCGGGCCTCTCC	0.562		NA	A		"""ovarian, pancreatic """								False	0	True	19:40762881	0
EIF2B5	8893	broad.mit.edu	37	3	183854501	183854501	+	Silent	SNP	T	T	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:183854501T>A	ENST00000273783.3	+	2	419	c.297T>A	c.(295-297)gcT>gcA	p.A99A	EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000432569.1_Silent_p.A99A|EIF2B5_ENST00000444495.1_Silent_p.A99A	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	99					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCTGGAAAGCTGCTCAAATCA	0.423		NA											False	0	False	3:183854501	0
DCAF8	50717	broad.mit.edu	37	1	160213756	160213756	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:160213756C>T	ENST00000368073.3	-	3	477	c.43G>A	c.(43-45)Gct>Act	p.A15T	DCAF8_ENST00000326837.2_Missense_Mutation_p.A15T|DCAF8_ENST00000368074.1_Missense_Mutation_p.A15T|DCAF8_ENST00000608310.1_Missense_Mutation_p.A169T|DCAF8_ENST00000556710.1_Missense_Mutation_p.A169T|DCAF8_ENST00000610139.1_Missense_Mutation_p.A15T|DCAF8_ENST00000475733.1_Missense_Mutation_p.A15T			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	15						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TTACCATTAGCTAAGTCTGTT	0.463		NA											False	0	False	1:160213756	0
UBR4	23352	broad.mit.edu	37	1	19439055	19439055	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:19439055G>A	ENST00000375267.2	-	78	11767	c.11764C>T	c.(11764-11766)Cgg>Tgg	p.R3922W	UBR4_ENST00000375217.2_Missense_Mutation_p.R3915W|UBR4_ENST00000375226.2_Missense_Mutation_p.R3898W|UBR4_ENST00000375254.3_Missense_Mutation_p.R3922W|UBR4_ENST00000375218.3_3'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3922					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCTCCTCCCGCATGGCCGCA	0.602		NA											False	0	True	1:19439055	0
RBM19	9904	broad.mit.edu	37	12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RBM19_ENST00000392561.3_Missense_Mutation_p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622		NA											False	0	True	12:114377796	0
C11orf40	143501	broad.mit.edu	37	11	4594586	4594586	+	Missense_Mutation	SNP	A	A	T	rs143067877		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:4594586A>T	ENST00000307616.1	-	2	257	c.258T>A	c.(256-258)gaT>gaA	p.D86E		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	86										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTGGCCGTTATCACCCATCA	0.473		NA											False	0	False	11:4594586	0
DMRT3	58524	broad.mit.edu	37	9	990483	990483	+	Silent	SNP	C	C	T	rs145231691	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:990483C>T	ENST00000190165.2	+	2	935	c.897C>T	c.(895-897)tcC>tcT	p.S299S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	299					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCGAACTTCCGCAGAACCTG	0.577		NA											False	0	False	9:990483	0
OR4D5	219875	broad.mit.edu	37	11	123810641	123810641	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:123810641C>A	ENST00000307033.2	+	1	392	c.318C>A	c.(316-318)ttC>ttA	p.F106L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTTCCACTTCATTGGAGGCA	0.498		NA											False	0	False	11:123810641	0
SLC4A5	57835	broad.mit.edu	37	2	74477486	74477486	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:74477486G>A	ENST00000394019.2	-	17	2034	c.1637C>T	c.(1636-1638)gCc>gTc	p.A546V	SLC4A5_ENST00000423644.1_Missense_Mutation_p.A546V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.A546V|SLC4A5_ENST00000358683.4_Missense_Mutation_p.A482V|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.A546V|SLC4A5_ENST00000346834.4_Missense_Mutation_p.A546V|SLC4A5_ENST00000377634.4_Missense_Mutation_p.A546V|SLC4A5_ENST00000359484.4_Missense_Mutation_p.A482V	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	546						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATTGTCGGTGGCATCCCCCAG	0.527		NA									OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:74477486	0
SARM1	23098	broad.mit.edu	37	17	26715525	26715525	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:26715525G>A	ENST00000457710.3	+	7	2259	c.1788G>A	c.(1786-1788)atG>atA	p.M596I	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	630	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		ACAAGTGCATGCAAGACCATG	0.542		NA											False	0	True	17:26715525	0
IGDCC4	57722	broad.mit.edu	37	15	65678310	65678310	+	Silent	SNP	T	T	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:65678310T>G	ENST00000352385.2	-	18	3248	c.3039A>C	c.(3037-3039)ccA>ccC	p.P1013P		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1013						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CATGGGCAGCTGGGGGGCTGG	0.667		NA									OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	15:65678310	0
MAP2K4	6416	broad.mit.edu	37	17	11998898	11998898	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:11998898C>T	ENST00000415385.3	+	5	486	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	MAP2K4_ENST00000353533.5_Missense_Mutation_p.R134W|MAP2K4_ENST00000581941.1_3'UTR	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	134	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.R134W(2)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CCAGAGAATTCGGTCAACAGT	0.338		NA	"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								False	0	False	17:11998898	0
NTM	50863	broad.mit.edu	37	11	132177680	132177680	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:132177680C>T	ENST00000374786.1	+	4	1103	c.624C>T	c.(622-624)gcC>gcT	p.A208A	NTM_ENST00000374791.3_Silent_p.A208A|NTM_ENST00000425719.2_Silent_p.A208A|NTM_ENST00000539799.1_Silent_p.A208A|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Silent_p.A199A|NTM_ENST00000374784.1_Silent_p.A208A	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	208	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ATGACGTGGCCGCGCCCGTGG	0.582		NA											False	0	False	11:132177680	0
MAK	4117	broad.mit.edu	37	6	10764813	10764813	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:10764813G>A	ENST00000313243.2	-	14	2126	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.R582W|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000354489.2_Missense_Mutation_p.R582W			P20794	MAK_HUMAN	male germ cell-associated kinase	582					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	p.R582R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AACTGCCCCCGACCAGTTTTT	0.398		NA											False	0	True	6:10764813	0
LRRC37A3	374819	broad.mit.edu	37	17	62893346	62893346	+	Silent	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:62893346C>A	ENST00000584306.1	-	3	560	c.30G>T	c.(28-30)gcG>gcT	p.A10A	LRRC37A3_ENST00000319651.5_Silent_p.A10A|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584959.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	10						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACATGACACACGCTAGTGCCG	0.572		NA											False	0	True	17:62893346	0
DMBT1	1755	broad.mit.edu	37	10	124339199	124339199	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:124339199A>G	ENST00000338354.3	+	10	891	c.785A>G	c.(784-786)tAc>tGc	p.Y262C	DMBT1_ENST00000368956.2_Missense_Mutation_p.Y262C|DMBT1_ENST00000344338.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000330163.4_Missense_Mutation_p.Y262C|DMBT1_ENST00000368909.3_Missense_Mutation_p.Y262C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	262	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTGATGACTACTGGGACACC	0.617		NA											False	0	False	10:124339199	0
CPXM2	119587	broad.mit.edu	37	10	125539748	125539748	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:125539748G>A	ENST00000241305.3	-	7	1067	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	305					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATCTCGTTCCGGCGGTGATAA	0.448		NA											False	0	False	10:125539748	0
CDYL	9425	broad.mit.edu	37	6	4892101	4892101	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:4892101C>T	ENST00000328908.5	+	4	472	c.341C>T	c.(340-342)aCg>aTg	p.T114M	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.T60M			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	114	Chromo.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGACGCCACACGGAGAAGCAG	0.507		NA											False	0	False	6:4892101	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864178	31864178	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr21:31864178C>T	ENST00000334063.4	-	1	97	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	33						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						ACCCAGTCTGCGGAAGCTGCC	0.582		NA											False	0	False	21:31864178	0
FAM104B	90736	broad.mit.edu	37	X	55172659	55172659	+	Missense_Mutation	SNP	A	A	G	rs5018687	by1000genomes	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:55172659A>G	ENST00000425133.2	-	3	247	c.209T>C	c.(208-210)aTt>aCt	p.I70T	FAM104B_ENST00000477847.2_Missense_Mutation_p.I66T|FAM104B_ENST00000332132.4_Missense_Mutation_p.I70T|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000358460.4_Missense_Mutation_p.I69T|FAM104B_ENST00000489298.1_Missense_Mutation_p.I68T	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	69								p.I70T(2)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TTCAGTAACAATCTGGTTTAA	0.458		NA											False	0	False	X:55172659	0
MAP4K2	5871	broad.mit.edu	37	11	64566932	64566932	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:64566932G>A	ENST00000294066.2	-	14	1105	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	MAP4K2_ENST00000377350.3_Silent_p.G338G	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	338					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TGCGTGGGGCGCCAAATTTCA	0.597		NA											False	0	False	11:64566932	0
CACNA1H	8912	broad.mit.edu	37	16	1260913	1260913	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:1260913G>A	ENST00000348261.5	+	21	4413	c.4165G>A	c.(4165-4167)Gcc>Acc	p.A1389T	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1389T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1389T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1389					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGCTGGTGGCGCCAAGATCCT	0.687		NA											False	0	False	16:1260913	0
CDC27	996	broad.mit.edu	37	17	45219271	45219271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:45219271C>T	ENST00000066544.3	-	12	1592	c.1499G>A	c.(1498-1500)tGg>tAg	p.W500*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.W499*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.W506*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.W439*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	500					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						GCACAGTACCCAACCAGTATT	0.358		NA											False	0	True	17:45219271	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334112	39334112	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:39334112C>T	ENST00000377726.2	-	1	348	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	102	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament		p.R102H(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCTGGGGCGGCAGCAGGT	0.657		NA											False	0	True	17:39334112	0
SMU1	55234	broad.mit.edu	37	9	33068870	33068870	+	Silent	SNP	G	G	A	rs113018466	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507		NA											False	0	False	9:33068870	0
KIF1A	547	broad.mit.edu	37	2	241712602	241712602	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:241712602C>T	ENST00000498729.2	-	13	1355	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	KIF1A_ENST00000320389.7_Missense_Mutation_p.R370H	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	370					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTTCAGCTCGCGGATCAGCTT	0.617		NA											False	0	False	2:241712602	0
PPIP5K2	23262	broad.mit.edu	37	5	102509562	102509562	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:102509562G>A	ENST00000321521.9	+	21	2988	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	PPIP5K2_ENST00000414217.1_Splice_Site_p.V805V|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Splice_Site_p.V805V			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	805					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTAATTTTAGGTATTCTAGAG	0.303		NA											False	0	False	5:102509562	0
PARD3	56288	broad.mit.edu	37	10	34663823	34663823	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:34663823G>A	ENST00000374789.3	-	11	1972	c.1647C>T	c.(1645-1647)gaC>gaT	p.D549D	PARD3_ENST00000545260.1_Silent_p.D505D|PARD3_ENST00000374794.3_Silent_p.D505D|PARD3_ENST00000346874.4_Silent_p.D549D|PARD3_ENST00000544292.1_Silent_p.D279D|PARD3_ENST00000350537.4_Silent_p.D549D|PARD3_ENST00000340077.5_Silent_p.D549D|PARD3_ENST00000374790.3_Silent_p.D505D|PARD3_ENST00000374776.1_Silent_p.D549D|PARD3_ENST00000545693.1_Silent_p.D549D|PARD3_ENST00000374773.1_Silent_p.D549D|PARD3_ENST00000374788.3_Silent_p.D549D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	549					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGTGGAAGGCGTCTTCCTGGC	0.478		NA											False	0	False	10:34663823	0
CYP21A1P	0	broad.mit.edu	37	6	31975463	31975463	+	RNA	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:31975463T>C	ENST00000342991.6	+	0	1386					NR_040090.1		Q5ST44	Q5ST44_HUMAN		NA							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				NA						GCAGCGACTGTAGGAGGAGCT	0.657		NA											False	0	False	6:31975463	0
DNMT1	1786	broad.mit.edu	37	19	10254528	10254528	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:10254528G>A	ENST00000340748.4	-	28	3217	c.2982C>T	c.(2980-2982)ggC>ggT	p.G994G	DNMT1_ENST00000359526.4_Silent_p.G1010G|DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Silent_p.G994G			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	994	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTTTGATCCGGCCAATTCGGT	0.542		NA											False	0	False	19:10254528	0
XPO5	57510	broad.mit.edu	37	6	43540277	43540277	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:43540277T>C	ENST00000265351.7	-	3	476	c.266A>G	c.(265-267)tAt>tGt	p.Y89C		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	89	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTTCTTCAGATACACCTTCTC	0.423		NA											False	0	False	6:43540277	0
ITGAX	3687	broad.mit.edu	37	16	31373160	31373160	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:31373160C>T	ENST00000268296.4	+	10	1137	c.1016C>T	c.(1015-1017)aCg>aTg	p.T339M	ITGAX_ENST00000562522.1_Missense_Mutation_p.T339M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	339	VWFA.				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						CCCCCAGGTACGGAGACCACA	0.572		NA											False	0	False	16:31373160	0
KLF15	28999	broad.mit.edu	37	3	126070729	126070729	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:126070729G>A	ENST00000296233.3	-	2	1267	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	346						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CTTCTCACCCGTGTGCCGGCG	0.592		NA											False	0	True	3:126070729	0
APCDD1	147495	broad.mit.edu	37	18	10471951	10471951	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:10471951C>T	ENST00000355285.5	+	3	1021	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	NA					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TCACCACAACCTCGACCACCT	0.572		NA											False	0	False	18:10471951	0
DMRT2	10655	broad.mit.edu	37	9	1056404	1056404	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:1056404C>G	ENST00000382251.3	+	5	1146	c.817C>G	c.(817-819)Cgc>Ggc	p.R273G	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.R273G|DMRT2_ENST00000302441.6_Missense_Mutation_p.R273G			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	273					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TCTGCCCAACCGCATGGTGCC	0.473		NA											False	0	False	9:1056404	0
RRN3P2	0	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111										NA								p.L368P(6)			NA						TTGCAGTATCTTCAGAGTCTG	0.328		NA											False	0	False	16:29110438	0
ATP10A	57194	broad.mit.edu	37	15	26026228	26026228	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:26026228C>T	ENST00000356865.6	-	2	703	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	198					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCAGGTTGGCGGTCTCGATG	0.602		NA											False	0	False	15:26026228	0
TP63	8626	broad.mit.edu	37	3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:189582120G>A	ENST00000264731.3	+	5	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	227					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)		TGTTATCCGCGCCATGCCTGT	0.517		NA								HNSCC(45;0.13)			False	0	False	3:189582120	0
GJC1	10052	broad.mit.edu	37	17	42882797	42882797	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:42882797G>A	ENST00000426548.1	-	3	658	c.389C>T	c.(388-390)aCg>aTg	p.T130M	GJC1_ENST00000330514.4_Missense_Mutation_p.T130M|GJC1_ENST00000590758.1_Missense_Mutation_p.T130M|GJC1_ENST00000592524.1_Missense_Mutation_p.T130M	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	130					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GTCCTCCTCCGTTTCTTCCAG	0.483		NA											False	0	True	17:42882797	0
ADSS	159	broad.mit.edu	37	1	244574656	244574656	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:244574656C>T	ENST00000366535.3	-	12	1567	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	417					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	GTTCTTTAAACGCCCTTGCAT	0.333		NA											False	0	True	1:244574656	0
NRXN2	9379	broad.mit.edu	37	11	64375284	64375284	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:64375284G>A	ENST00000265459.6	-	23	4984	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M	NRXN2_ENST00000377559.3_Missense_Mutation_p.T1438M|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1501M|NRXN2_ENST00000301894.2_Missense_Mutation_p.T462M|NRXN2_ENST00000377551.1_Missense_Mutation_p.T1508M	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1508					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTCGTCGTCCGTGGGGGGGAG	0.687		NA											False	0	False	11:64375284	0
SMAD4	4089	broad.mit.edu	37	18	48581229	48581229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:48581229C>A	ENST00000342988.3	+	5	1071	c.533C>A	c.(532-534)tCa>tAa	p.S178*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S178*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S178*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	178					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAAGGACATTCAATTCAAACC	0.438		NA											False	0	True	18:48581229	0
KDM6A	7403	broad.mit.edu	37	X	44833922	44833922	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:44833922T>C	ENST00000377967.4	+	4	387	c.346T>C	c.(346-348)Tac>Cac	p.Y116H	KDM6A_ENST00000382899.4_Missense_Mutation_p.Y116H|KDM6A_ENST00000543216.1_Missense_Mutation_p.Y116H|KDM6A_ENST00000536777.1_Missense_Mutation_p.Y116H	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	116					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTATCTGCATACCAGAGGTA	0.348		NA	"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								False	0	False	X:44833922	0
TENM4	26011	broad.mit.edu	37	11	78423616	78423616	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:78423616G>A	ENST00000278550.7	-	26	4427	c.3965C>T	c.(3964-3966)gCg>gTg	p.A1322V		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						ACCTGTCCCCGCAACCACCTC	0.577		NA											False	0	True	11:78423616	0
FLNB	2317	broad.mit.edu	37	3	58120468	58120468	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:58120468C>T	ENST00000357272.4	+	27	4805	c.4640C>T	c.(4639-4641)gCc>gTc	p.A1547V	FLNB_ENST00000490882.1_Missense_Mutation_p.A1578V|FLNB_ENST00000493452.1_Missense_Mutation_p.A1378V|FLNB_ENST00000295956.4_Missense_Mutation_p.A1547V|FLNB_ENST00000429972.2_Missense_Mutation_p.A1547V|FLNB_ENST00000348383.5_Missense_Mutation_p.A1547V|FLNB_ENST00000358537.3_Missense_Mutation_p.A1547V|FLNB_ENST00000419752.2_Missense_Mutation_p.A1378V			O75369	FLNB_HUMAN	filamin B, beta	1547					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCCGAGATGCCGGGGAAGGC	0.483		NA											False	0	False	3:58120468	0
OR8B12	219858	broad.mit.edu	37	11	124412927	124412927	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:124412927C>A	ENST00000306842.2	-	1	648	c.624G>T	c.(622-624)atG>atT	p.M208I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGACAATGGGCATTCCAACGT	0.453		NA											False	0	True	11:124412927	0
LINC00969	0	broad.mit.edu	37	3	195391115	195391115	+	RNA	SNP	T	T	C	rs28401477		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:195391115T>C	ENST00000445430.1	+	0	641										NA											NA						ACACCTTATATGGGAGGGTAA	0.597		NA											False	0	True	3:195391115	0
GRIK3	2899	broad.mit.edu	37	1	37307495	37307495	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:37307495C>T	ENST00000373091.3	-	10	1388	c.1372G>A	c.(1372-1374)Ggg>Agg	p.G458R	GRIK3_ENST00000373093.4_Missense_Mutation_p.G458R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	458					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGGTCATTCCCGTATAGCGTC	0.572		NA											False	0	True	1:37307495	0
