Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MICAL2	9645	broad.mit.edu	37	11	12229646	12229646	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:12229646C>T	ENST00000256194.4	+	5	837	c.549C>T	c.(547-549)ttC>ttT	p.F183F	MICAL2_ENST00000342902.5_Silent_p.F183F|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000527546.1_Silent_p.F183F|MICAL2_ENST00000379612.3_Silent_p.F183F|MICAL2_ENST00000537344.1_Silent_p.F183F	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	183						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATGTGGAGTTCGTGAAGGTTC	0.423000													21	174					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54951479	54951479	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:54951479G>A	ENST00000173898.7	+	6	1575	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	TRO_ENST00000375041.2_Missense_Mutation_p.R91Q|TRO_ENST00000319167.8_Missense_Mutation_p.R488Q|TRO_ENST00000420798.2_Missense_Mutation_p.R19Q|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000399736.1_Missense_Mutation_p.R91Q|TRO_ENST00000375022.4_Missense_Mutation_p.R488Q	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	488	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATCATTGAACGAGCAAGCTAC	0.488000													4	34					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950348	27950348	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:27950348G>A	ENST00000379992.2	-	6	771	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R108C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	108						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGAGGGAACGCAGGTTAAAG	0.438000													28	163					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141027890	141027890	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:141027890T>A	ENST00000389484.3	-	86	14139	c.13168A>T	c.(13168-13170)Agc>Tgc	p.S4390C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4390	EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACTGACAGCTAGAGGCAATC	0.403000										TSP Lung(27;0.18)			7	111					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176991	140176991	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:140176991C>G	ENST00000378132.1	+	1	2548	c.2442C>G	c.(2440-2442)ttC>ttG	p.F814L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031495.1	NP_113683.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAAAAATTCTATATGATTT	0.294000													8	33					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6472662	6472662	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:6472662G>A	ENST00000358945.3	-	2	1071	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	SCNN1A_ENST00000396966.2_Missense_Mutation_p.R211W|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R270W|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R234W|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R211W|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000538979.1_Intron			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	211					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TTGTTGTCCCGCAAGCTGGAG	0.751000													4	25					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129118	99129118	+	Missense_Mutation	SNP	G	G	A	rs141273536		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:99129118G>A	ENST00000394170.2	+	7	2017	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R589H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R589H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	589					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R589H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAACCAACGCGTGCACCTA	0.488000													7	57					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29644357	29644357	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:29644357C>T	ENST00000323874.8	+	26	3739	c.3629C>T	c.(3628-3630)cCg>cTg	p.P1210L	PTPRU_ENST00000345512.3_Missense_Mutation_p.P1214L|PTPRU_ENST00000460170.2_Missense_Mutation_p.P1210L|PTPRU_ENST00000428026.2_Missense_Mutation_p.P1201L|PTPRU_ENST00000373779.3_Missense_Mutation_p.P1204L|PTPRU_ENST00000356870.3_Missense_Mutation_p.P1210L			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1214	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GACGTCCTGCCGCCCGACCGC	0.632000													12	64					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25315595	25315595	+	RNA	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:25315595C>T	ENST00000549804.2	+	0	678				SNHG14_ENST00000551077.1_RNA|SNORD116-8_ENST00000384365.1_RNA																							ATGATGAGTCCTCCAAAAAAA	0.498000													6	140					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:7578395G>A	ENST00000420246.2	-	5	667	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642000		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)			4	73					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72040797	72040797	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:72040797G>A	ENST00000294053.3	-	7	1090	c.917C>T	c.(916-918)gCc>gTc	p.A306V	CLPB_ENST00000437826.2_Missense_Mutation_p.A261V|CLPB_ENST00000538039.1_Missense_Mutation_p.A276V|CLPB_ENST00000543042.1_Missense_Mutation_p.A105V|CLPB_ENST00000340729.5_Missense_Mutation_p.A247V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	306					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCCTTCTCGGGCATAATCCAA	0.512000													3	87					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57577638	57577638	+	Missense_Mutation	SNP	G	G	T	rs144804370		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:57577638G>T	ENST00000243077.3	+	36	6341	c.5875G>T	c.(5875-5877)Gtg>Ttg	p.V1959L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1959					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)	GCGTGAAGACGTGGTGACCAA	0.612000													20	90					1.33834e-09	1.61799e-09	1	1	0
HIRA	7290	broad.mit.edu	37	22	19340889	19340889	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:19340889G>A	ENST00000263208.5	-	23	3094	c.2838C>T	c.(2836-2838)ctC>ctT	p.L946L	HIRA_ENST00000541063.1_Silent_p.L902L|HIRA_ENST00000340170.4_Silent_p.L739L|HIRA_ENST00000546308.1_3'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	946	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTTCGTTTACGAGGTACCGTG	0.597000													6	21					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29644358	29644358	+	Silent	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:29644358G>C	ENST00000323874.8	+	26	3740	c.3630G>C	c.(3628-3630)ccG>ccC	p.P1210P	PTPRU_ENST00000345512.3_Silent_p.P1214P|PTPRU_ENST00000460170.2_Silent_p.P1210P|PTPRU_ENST00000428026.2_Silent_p.P1201P|PTPRU_ENST00000373779.3_Silent_p.P1204P|PTPRU_ENST00000356870.3_Silent_p.P1210P			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1214	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACGTCCTGCCGCCCGACCGCT	0.632000													12	63					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103345697	103345697	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:103345697T>C	ENST00000370162.3	-	3	826	c.332A>G	c.(331-333)aAg>aGg	p.K111R	POLL_ENST00000339310.3_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.K111R|POLL_ENST00000456836.2_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.K23R|POLL_ENST00000299206.4_Missense_Mutation_p.K111R|POLL_ENST00000436284.2_Missense_Mutation_p.K23R|DPCD_ENST00000470165.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	111	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCAGGCTGACTTCACCAGCTG	0.577000								DNA polymerases (catalytic subunits)					12	45					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686312	125686312	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:125686312G>T	ENST00000371126.1	-	1	522	c.280C>A	c.(280-282)Ctg>Atg	p.L94M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	94										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACCGTGCCCAGCTCCAGTTGG	0.662000													13	34					9.31168e-06	1.07749e-05	1	1	0
GEMIN5	25929	broad.mit.edu	37	5	154278159	154278159	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:154278159C>A	ENST00000285873.7	-	23	3261	c.3186G>T	c.(3184-3186)aaG>aaT	p.K1062N		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1062					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGCATCCCCCTTTTTGGCCA	0.453000													3	81					1	1	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	rs121913386		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:21971017G>A	ENST00000304494.5	-	2	611	c.341C>T	c.(340-342)cCc>cTc	p.P114L	CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000530628.2_Silent_p.A128A|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000579755.1_Silent_p.A128A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	40					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128668	126128668	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:126128668A>G	ENST00000299308.3	+	6	1477	c.1469A>G	c.(1468-1470)aAg>aGg	p.K490R	TMEM132B_ENST00000535886.1_Missense_Mutation_p.K2R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	490						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGAAATGAAGAGCAAAGTG	0.488000													11	98					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721372	160721372	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:160721372C>G	ENST00000274547.2	-	11	1472	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	GABRB2_ENST00000353437.6_Missense_Mutation_p.E381Q|GABRB2_ENST00000520240.1_Missense_Mutation_p.E381Q|GABRB2_ENST00000517901.1_Missense_Mutation_p.E318Q|GABRB2_ENST00000393959.1_Missense_Mutation_p.E419Q|GABRB2_ENST00000517547.1_Missense_Mutation_p.E221Q	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	419					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCACAGCCTCAGATGTGGCC	0.478000													9	123					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887454	25887454	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:25887454C>A	ENST00000376351.3	+	11	3258	c.2899C>A	c.(2899-2901)Cca>Aca	p.P967T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	967						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGCGGAGGAGCCAAGAAAGCC	0.458000													7	152					8.12818e-05	9.273e-05	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66473195	66473195	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:66473195G>A	ENST00000533211.1	-	14	2098	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A	SPTBN2_ENST00000309996.2_Silent_p.A589A|SPTBN2_ENST00000529997.1_Silent_p.A589A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	589					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGGCGCTGACGGCCCGCACCC	0.662000													5	31					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21986582	21986582	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:21986582A>C	ENST00000381418.4	-	2	1582	c.102T>G	c.(100-102)gaT>gaG	p.D34E	HR_ENST00000312841.8_Missense_Mutation_p.D34E	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	34							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTGCAGTCCATCTCGAGGCG	0.672000													12	77					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201044689	201044689	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:201044689C>T	ENST00000362061.3	-	13	2108	c.1882G>A	c.(1882-1884)Ggc>Agc	p.G628S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G628S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	628				G -> R (in Ref. 2; AAB37235).|YG -> SS (in Ref. 1; AAA51902).	axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACGGCCCGCCGTAGGCCATG	0.547000													17	191					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825341	196825341	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:196825341C>T	ENST00000312428.6	-	18	2634	c.2534G>A	c.(2533-2535)tGt>tAt	p.C845Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	845	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAGGATTACAGATCACTTG	0.443000													21	172					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515382	56515382	+	Silent	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:56515382G>T	ENST00000390649.3	+	2	363	c.363G>T	c.(361-363)ctG>ctT	p.L121L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	121	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGCATCGCTGGCCTGGGCTA	0.488000													3	61					1	1	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4511556	4511556	+	Missense_Mutation	SNP	C	C	A	rs71263980		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:4511556C>A	ENST00000301286.3	-	3	2373	c.2374G>T	c.(2374-2376)Gct>Tct	p.A792S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	792	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						ACATTCGCAGCACCGGTCACC	0.607000													5	241					1	1	1	1	0
MYH11	4629	broad.mit.edu	37	16	15812199	15812199	+	Missense_Mutation	SNP	G	G	T	rs139620532		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr16:15812199G>T	ENST00000338282.6	-	37	5374	c.5268C>A	c.(5266-5268)agC>agA	p.S1756R	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.S1763R|MYH11_ENST00000300036.5_Missense_Mutation_p.S1756R|MYH11_ENST00000576790.1_Missense_Mutation_p.S1756R|MYH11_ENST00000452625.2_Missense_Mutation_p.S1763R|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1756					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGACCCGGTCGCTCATGGCCT	0.657000			T	CBFB	AML								16	88					1.37285e-15	1.72405e-15	1	1	0
CCDC147	159686	broad.mit.edu	37	10	106153149	106153149	+	Silent	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:106153149A>G	ENST00000369704.3	+	11	1724	c.1590A>G	c.(1588-1590)aaA>aaG	p.K530K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	530										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAGCTGAAAGAAGACATCT	0.383000													4	52					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793361	217793361	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:217793361C>T	ENST00000366935.3	-	2	647	c.537G>A	c.(535-537)cgG>cgA	p.R179R	GPATCH2_ENST00000366934.3_Silent_p.R179R	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	179						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GGGTCATTGTCCGTTTGTTAG	0.448000													28	186					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93967234	93967234	+	Silent	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:93967234T>A	ENST00000369303.4	-	12	2302	c.2118A>T	c.(2116-2118)ccA>ccT	p.P706P		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	706	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTATCATGACTGGTTTCCCTA	0.373000													4	63					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33419553	33419553	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:33419553C>T	ENST00000418600.2	+	19	4003	c.3902C>T	c.(3901-3903)cCc>cTc	p.P1301L	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P1242L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1301					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAGCTTCCCCCCTTGGGTCCA	0.652000													4	24					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165349694	165349694	+	Splice_Site	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:165349694T>A	ENST00000263915.3	-	14	2015		c.e14-2		GRB14_ENST00000497306.1_Splice_Site|GRB14_ENST00000543549.1_Splice_Site	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14						blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATCTTCTACCTGCAAAAAGAA	0.388000													3	64					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111311766	111311766	+	Splice_Site	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:111311766G>A	ENST00000308208.5	+	5	731		c.e5+1		CCDC63_ENST00000552694.1_Splice_Site|CCDC63_ENST00000550317.1_Splice_Site|CCDC63_ENST00000545036.1_Splice_Site	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63											NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TTTGAATCTCGTATGTAAAGT	0.443000													31	145					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940600	22940600	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:22940600G>C	ENST00000397104.3	-	5	1837	c.1838C>G	c.(1837-1839)cCc>cGc	p.P613R	ZNF99_ENST00000596209.1_Missense_Mutation_p.P704R					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTAGGGTTTCTTTCC	0.373000													8	71					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11441597	11441597	+	Splice_Site	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:11441597T>A	ENST00000423059.3	-	23	4489		c.e23-2		AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AACAGTCACCTGTAAAACACA	0.443000										HNSCC(18;0.044)			21	114					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724469	49724469	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:49724469G>A	ENST00000545762.1	-	5	505	c.482C>T	c.(481-483)aCc>aTc	p.T161I	MST1_ENST00000449682.2_Silent_p.Y213Y|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Silent_p.Y138Y			P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	0	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGCGCCGCGGTATTCCTCGC	0.657000													7	100					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99764696	99764696	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:99764696A>G	ENST00000370185.3	+	4	1141	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	LPPR4_ENST00000370184.1_Missense_Mutation_p.Y57C|LPPR4_ENST00000457765.1_Missense_Mutation_p.Y215C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		215							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAACCAAACTATACCTCTCTG	0.393000													8	94					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24793592	24793592	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:24793592G>A	ENST00000310677.4	-	16	1942	c.1829C>T	c.(1828-1830)cCa>cTa	p.P610L	ADCY4_ENST00000418030.2_Missense_Mutation_p.P610L|ADCY4_ENST00000554068.2_Missense_Mutation_p.P610L|ADCY4_ENST00000396747.3_Missense_Mutation_p.P303L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	610					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGCCAGAGCTGGGGGCCTGAA	0.567000													3	61					0	0	1	0	0
CA5B	11238	broad.mit.edu	37	X	15792452	15792452	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:15792452A>T	ENST00000318636.3	+	5	623	c.487A>T	c.(487-489)Aga>Tga	p.R163*	CA5B_ENST00000454127.2_Nonsense_Mutation_p.R163*	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	163					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					GAACGCAGTCAGATTTGAAAA	0.403000													6	45					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301736	42301736	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:42301736G>A	ENST00000357396.3	+	2	521	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	94	Ig-like V-type.					integral to membrane		p.A94T(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCCAGGGGCCGCATACAGCGG	0.463000													5	256					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20555121	20555121	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr18:20555121G>C	ENST00000399722.2	+	6	718	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	RBBP8_ENST00000360790.5_Missense_Mutation_p.E123Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.E123Q|RBBP8_ENST00000399725.2_Missense_Mutation_p.E123Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	123					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTAAGTGAATGAAAGGAATAC	0.264000								Homologous recombination					5	83					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	45					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107147297	107147297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr13:107147297C>T	ENST00000245323.4	-	4	694	c.545G>A	c.(544-546)cGt>cAt	p.R182H		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	182					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAGTTCTGGACGTCTTGTTGG	0.393000													12	276					0	0	1	0	0
POU3F2	5454	broad.mit.edu	37	6	99283871	99283871	+	Silent	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:99283871C>G	ENST00000328345.5	+	1	1292	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	374					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCCATTTCCTCAAATGCCCCA	0.587000													7	106					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42235962	42235962	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:42235962G>T	ENST00000541110.1	-	5	1935	c.1367C>A	c.(1366-1368)cCc>cAc	p.P456H	TRERF1_ENST00000354325.2_Missense_Mutation_p.P456H|TRERF1_ENST00000372922.4_Missense_Mutation_p.P456H|TRERF1_ENST00000372917.4_Missense_Mutation_p.P456H|TRERF1_ENST00000340840.2_Missense_Mutation_p.P456H			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	456	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GATCCCACTGGGGGATAGGAG	0.607000													22	100					6.44725e-10	7.85304e-10	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133549	91133549	+	Silent	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:91133549G>T	ENST00000373094.1	+	2	3155	c.2310G>T	c.(2308-2310)ctG>ctT	p.L770L	PCDH11X_ENST00000373097.1_Silent_p.L770L|PCDH11X_ENST00000395337.2_Silent_p.L770L|PCDH11X_ENST00000373088.1_Silent_p.L770L|PCDH11X_ENST00000361724.1_Silent_p.L770L|PCDH11X_ENST00000361655.2_Silent_p.L770L|PCDH11X_ENST00000504220.1_Silent_p.L770L|PCDH11X_ENST00000298274.8_Silent_p.L770L|PCDH11X_ENST00000406881.1_Silent_p.L770L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	770	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGTCAATCTGTTCGTGAATG	0.423000													13	91					4.36969e-10	5.40374e-10	1	1	0
CENPE	1062	broad.mit.edu	37	4	104062022	104062022	+	Silent	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:104062022G>C	ENST00000265148.3	-	36	5792	c.5703C>G	c.(5701-5703)ctC>ctG	p.L1901L	CENPE_ENST00000380026.3_Silent_p.L1876L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1901					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTCCAGTTTGAGTGTCTCCT	0.368000													7	127					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89082281	89082281	+	RNA	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:89082281T>C	ENST00000393525.3	+	0	503																											GCTGAGAAGGTAATTAAAGTC	0.323000													3	48					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326395	152326395	+	Silent	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:152326395T>C	ENST00000388718.5	-	3	3939	c.3867A>G	c.(3865-3867)tcA>tcG	p.S1289S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1289	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGTGTTCTGAATGTCTGT	0.468000													51	314					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)		CTTAGTACCTGAAGGGTGAAA	0.448000		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)			6	108					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61067685	61067685	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:61067685C>A	ENST00000301764.7	-	27	3743	c.3346G>T	c.(3346-3348)Gat>Tat	p.D1116Y	DDB1_ENST00000451943.2_Missense_Mutation_p.D103Y|DDB1_ENST00000538470.1_Missense_Mutation_p.D163Y|DDB1_ENST00000450997.2_Missense_Mutation_p.D427Y	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1116	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCGCTGCCATCGTCATACTGC	0.592000								Nucleotide excision repair (NER)					8	28					0.0381472	0.0401289	1	1	0
CLVS2	134829	broad.mit.edu	37	6	123377032	123377032	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:123377032C>T	ENST00000275162.4	+	5	2092	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	CLVS2_ENST00000368438.1_Silent_p.L107L	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	253	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGGAGGAATGCTGCCTCCTTA	0.448000													10	148					0	0	1	0	0
PROZ	8858	broad.mit.edu	37	13	113824825	113824825	+	Missense_Mutation	SNP	G	G	T	rs150819115		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr13:113824825G>T	ENST00000342783.4	+	8	745	c.738G>T	c.(736-738)agG>agT	p.R246S	PROZ_ENST00000375547.2_Missense_Mutation_p.R224S|PROZ_ENST00000493630.1_3'UTR	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	224	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGTTACACAGGAATATTACTG	0.294000													11	102					3.86212e-05	4.43733e-05	1	1	0
SLC5A3	6526	broad.mit.edu	37	21	35468451	35468451	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr21:35468451G>A	ENST00000381151.3	+	2	1466	c.954G>A	c.(952-954)atG>atA	p.M318I	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	318						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCCCAGGAATGATTTCCAGGA	0.463000													14	192					0	0	1	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212170	90212170	+	RNA	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:90212170G>A	ENST00000390277.2	+	0	359																											CAGTGGGCCTGGGACAGACTT	0.552000													3	106					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992498	21992498	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:21992498G>T	ENST00000327430.3	-	2	1658	c.1364C>A	c.(1363-1365)tCc>tAc	p.S455Y	SALL2_ENST00000450879.2_Missense_Mutation_p.S318Y|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	455							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGTGGCACGGACATACCATA	0.582000													11	33					0.000673444	0.000742163	1	1	0
ZMAT1	84460	broad.mit.edu	37	X	101139287	101139287	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:101139287G>A	ENST00000458570.1	-	9	1929	c.599C>T	c.(598-600)tCa>tTa	p.S200L	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.S371L|ZMAT1_ENST00000372782.3_Missense_Mutation_p.S371L			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	200						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCCACTGGTGAAATATGGTA	0.423000													43	162					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906642	164906642	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:164906642G>T	ENST00000475390.1	-	2	2420	c.1977C>A	c.(1975-1977)agC>agA	p.S659R	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S659R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	659						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAACCAGCAGGCTGAGAATTA	0.532000										HNSCC(40;0.11)			6	46					0.00198382	0.0021569	1	1	0
PSD	5662	broad.mit.edu	37	10	104176509	104176509	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:104176509G>A	ENST00000020673.5	-	2	813	c.287C>T	c.(286-288)gCc>gTc	p.A96V	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.A96V	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	96	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGAGCTCTGGGCCCCGGGTGG	0.657000													6	85					0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74329716	74329716	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:74329716G>A	ENST00000263681.2	+	6	656	c.527G>A	c.(526-528)gGt>gAt	p.G176D	POLD3_ENST00000527458.1_Missense_Mutation_p.G137D|POLD3_ENST00000532497.1_Missense_Mutation_p.G70D	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	176					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACCACCAATGGTCATGGCCCA	0.483000													19	136					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471413	146471413	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:146471413A>T	ENST00000361727.3	+	2	664	c.148A>T	c.(148-150)Agc>Tgc	p.S50C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	50	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCTTTCAGCAGCTCCTCCTC	0.428000										HNSCC(39;0.1)			4	30					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112638323	112638323	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:112638323T>C	ENST00000341068.3	-	2	852	c.80A>G	c.(79-81)cAc>cGc	p.H27R	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	27					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTGCTTGCAGTGGTCTCGACC	0.468000													9	57					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746396	81746396	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:81746396C>G	ENST00000356860.3	-	6	828	c.490G>C	c.(490-492)Gca>Cca	p.A164P	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A164P|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A164P	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	164						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGGACTGCTGCGTGCTGATAA	0.408000													3	173					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902717	236902717	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:236902717A>G	ENST00000366578.4	+	10	1158	c.992A>G	c.(991-993)aAg>aGg	p.K331R	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.K331R	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	331					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGGAAGCACAAGCCACCCAAG	0.597000													9	69					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8258017	8258017	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:8258017T>C	ENST00000402384.3	-	6	763	c.497A>G	c.(496-498)tAt>tGt	p.Y166C	ICA1_ENST00000401396.1_Missense_Mutation_p.Y154C|ICA1_ENST00000422063.2_Missense_Mutation_p.Y166C|ICA1_ENST00000406470.2_Missense_Mutation_p.Y166C|ICA1_ENST00000407906.1_Missense_Mutation_p.Y166C|ICA1_ENST00000265577.7_Missense_Mutation_p.Y165C|ICA1_ENST00000396675.3_Missense_Mutation_p.Y166C			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	166	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGCTCCTCTATATTCCGTCCT	0.488000													39	195					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118866242	118866242	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:118866242C>T	ENST00000295622.1	+	1	1246	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	RP11-484M3.5_ENST00000490594.1_Silent_p.L7L	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	402										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGTAGACCTCAATTCCAAGC	0.448000													16	83					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46397933	46397933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:46397933G>A	ENST00000454345.1	+	24	2836	c.2711G>A	c.(2710-2712)tGg>tAg	p.W904*	DGKZ_ENST00000532868.2_Nonsense_Mutation_p.W720*|DGKZ_ENST00000527911.1_Nonsense_Mutation_p.W716*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.W716*|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.W715*|DGKZ_ENST00000543978.1_Nonsense_Mutation_p.W68*|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.W693*|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.W732*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.W682*|DGKZ_ENST00000528615.1_Nonsense_Mutation_p.W494*	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	904					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCCCCCAAGTGGTGCTTCCTG	0.622000													39	197					0	0	1	0	0
ZNF436	80818	broad.mit.edu	37	1	23688996	23688996	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:23688996G>A	ENST00000314011.4	-	4	1015	c.879C>T	c.(877-879)ctC>ctT	p.L293L	ZNF436_ENST00000374609.1_Intron|ZNF436_ENST00000374608.3_Silent_p.L293L	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L293L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGTGTTTGATGAGATCAGATC	0.527000													14	144					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92713516	92713516	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:92713516C>T	ENST00000370360.3	-	17	1585	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	GLMN_ENST00000534881.1_Missense_Mutation_p.E488K	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	502					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		AAATTATTCTCAATATTTCCA	0.299000									Multiple Glomus Tumors (of the Skin), Familial				9	142					0	0	1	0	0
APOL6	80830	broad.mit.edu	37	22	36054943	36054943	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:36054943C>T	ENST00000409652.3	+	3	608	c.332C>T	c.(331-333)aCc>aTc	p.T111I		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	111					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CTGCTCTCCACCGCTGGTCAA	0.572000													6	69					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913385	6913385	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:6913385G>A	ENST00000299459.2	-	1	445	c.347C>T	c.(346-348)gCa>gTa	p.A116V		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGACATCACTGCAAGAAGGGC	0.488000													14	89					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128372	56128372	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:56128372C>A	ENST00000303039.3	+	1	682	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GTTCTAGTATCTTATTTCAAT	0.328000													15	118					4.7546e-09	5.70552e-09	1	1	0
PTPN4	5775	broad.mit.edu	37	2	120712819	120712819	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:120712819C>G	ENST00000263708.2	+	20	2671	c.1900C>G	c.(1900-1902)Cag>Gag	p.Q634E	PTPN4_ENST00000544261.1_Missense_Mutation_p.Q267E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	634						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TAGTGTGCATCAGGATGACCA	0.398000													12	94					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40441956	40441956	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:40441956T>C	ENST00000280871.4	-	2	663	c.613A>G	c.(613-615)Aga>Gga	p.R205G	SLC2A13_ENST00000380858.1_Missense_Mutation_p.R205G	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	205						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				AATCGGCCTCTTAAATTGGGT	0.423000										HNSCC(50;0.14)			24	209					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35812693	35812693	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:35812693C>G	ENST00000216122.4	+	12	1630	c.1476C>G	c.(1474-1476)ttC>ttG	p.F492L	MCM5_ENST00000382011.5_Missense_Mutation_p.F449L	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	492	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.F492F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACTCAGTGTTCGGCCGCTGGG	0.577000													3	96					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77531083	77531083	+	Silent	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:77531083T>C	ENST00000416283.2	+	5	315	c.189T>C	c.(187-189)tcT>tcC	p.S63S	PHTF2_ENST00000307305.8_Silent_p.S59S|PHTF2_ENST00000415251.2_Silent_p.S59S|PHTF2_ENST00000450574.1_Silent_p.S63S|PHTF2_ENST00000424760.1_Silent_p.S59S|PHTF2_ENST00000422959.2_Silent_p.S63S|PHTF2_ENST00000248550.7_Silent_p.S97S|PHTF2_ENST00000275575.7_Silent_p.S59S	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTTCAGGGTCTGCATTTGCAA	0.338000													2	7					0	0	1	0	0
TMEM257	9142	broad.mit.edu	37	X	144909491	144909491	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:144909491C>A	ENST00000408967.2	+	1	564	c.296C>A	c.(295-297)gCc>gAc	p.A99D		NM_004709.2	NP_004700.1			transmembrane protein 257																		TCTCCCAGGGCCCTGCCAAGA	0.398000													12	25					9.05144e-12	1.12795e-11	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40645303	40645303	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:40645303T>G	ENST00000298910.7	+	10	1196	c.1138T>G	c.(1138-1140)Tac>Gac	p.Y380D	LRRK2_ENST00000343742.2_Missense_Mutation_p.Y380D	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	380					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTCCTTATGTACCAAAACAG	0.318000											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	27					0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6378700	6378700	+	Splice_Site	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:6378700G>T	ENST00000325203.5	-	4	1272	c.799_splice	c.e4+1	p.N266_splice	ANGPT2_ENST00000338312.6_Splice_Site_p.N214_splice|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Splice_Site_p.N266_splice|ANGPT2_ENST00000523120.1_Splice_Site_p.N266_splice			O15123	ANGP2_HUMAN	angiopoietin 2	266					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TAAACTTACAGTTTGATGTGG	0.353000													17	90					5.3912e-06	6.28327e-06	1	1	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													3	157					0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112318261	112318261	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:112318261C>T	ENST00000550735.2	+	8	1346	c.590C>T	c.(589-591)gCg>gTg	p.A197V	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.A197V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	197	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						GTACTGGAGGCGCAAAGAAGG	0.463000													5	78					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152477074	152477074	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:152477074A>C	ENST00000367255.5	-	132	24550	c.23949T>G	c.(23947-23949)atT>atG	p.I7983M	SYNE1_ENST00000423061.1_Missense_Mutation_p.I7912M|SYNE1_ENST00000539504.1_Missense_Mutation_p.I138M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7983M|SYNE1_ENST00000354674.4_Missense_Mutation_p.I138M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I7595M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7912M|SYNE1_ENST00000356820.4_Missense_Mutation_p.I2507M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7983					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACATAGCACAAATGTTTCTCC	0.498000										HNSCC(10;0.0054)			10	104					0	0	1	0	0
TMEM123	114908	broad.mit.edu	37	11	102272786	102272786	+	Silent	SNP	G	G	C	rs142725847	by1000genomes	TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:102272786G>C	ENST00000398136.2	-	3	729	c.309C>G	c.(307-309)gtC>gtG	p.V103V	TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Silent_p.V84V|TMEM123_ENST00000532161.1_Silent_p.V15V	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	103	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TATTTGTTGAGACCATCCCTG	0.438000													28	282					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151503155	151503155	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:151503155G>A	ENST00000271636.7	+	13	2637	c.2504G>A	c.(2503-2505)cGa>cAa	p.R835Q		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	829	Glu-rich.					myosin complex|tight junction	actin binding|motor activity	p.R835L(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGCTCCGGCGAGGCAAGGCT	0.652000													2	5					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245019776	245019776	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:245019776G>A	ENST00000444376.2	-	10	2072	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	HNRNPU_ENST00000283179.9_Missense_Mutation_p.A632V	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	632					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTGAGGACCGCATGTTCTGG	0.368000													4	210					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71060577	71060577	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:71060577G>A	ENST00000360289.2	+	0	486				HK1_ENST00000404387.2_Intron|HK1_ENST00000448642.2_Intron	NM_033497.2|NM_033498.2|NM_033500.2	NP_277032.1|NP_277033.1|NP_277035.2	P19367	HXK1_HUMAN	hexokinase 1						glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCACCACTGTGGTGGCGTGGA	0.428000													3	36					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33588219	33588219	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:33588219G>T	ENST00000262873.7	+	37	5123	c.5031G>T	c.(5029-5031)caG>caT	p.Q1677H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1635						membrane|myosin filament	actin binding|ATP binding|motor activity	p.Q1677H(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGAGCTGCAGCTGGGCCATG	0.672000													5	58					0.000602214	0.00066821	1	1	0
MFSD7	84179	broad.mit.edu	37	4	680361	680361	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:680361G>A	ENST00000322224.4	-	2	567	c.254C>T	c.(253-255)gCg>gTg	p.A85V	MFSD7_ENST00000404286.2_Missense_Mutation_p.A85V|MFSD7_ENST00000503156.1_Missense_Mutation_p.A21V|MFSD7_ENST00000515118.1_Missense_Mutation_p.A85V|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000347950.5_Missense_Mutation_p.A63V			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	85					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CCAGATGGCCGCCACGCCAAA	0.642000													3	83					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725011	158725011	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:158725011G>A	ENST00000368144.2	+	1	502	c.406G>A	c.(406-408)Ggt>Agt	p.G136S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCACTCACTTGGTATCACAGA	0.493000													5	115					0	0	1	0	0
PPIL3	53938	broad.mit.edu	37	2	201750420	201750420	+	Splice_Site	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:201750420C>T	ENST00000286175.8	-	3	462		c.e3+1		PPIL3_ENST00000392283.4_Splice_Site|PPIL3_ENST00000465823.1_Splice_Site|PPIL3_ENST00000409361.1_Splice_Site|PPIL3_ENST00000409449.1_Splice_Site	NM_032472.3	NP_115861.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3						protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(1)|lung(2)	3						ATAGTACTTACCTCACATGTT	0.318000													4	100					0	0	1	0	0
CCDC24	149473	broad.mit.edu	37	1	44461305	44461305	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:44461305C>T	ENST00000372318.3	+	7	756	c.585C>T	c.(583-585)tgC>tgT	p.C195C	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	195										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGGCCTTGCCACCCCTCTG	0.647000													3	25					0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23731351	23731351	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:23731351G>A	ENST00000304749.2	-	1	223	c.153C>T	c.(151-153)gcC>gcT	p.A51A	CST1_ENST00000398402.1_Silent_p.A51A	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	51						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					ACTCGCTGATGGCGAAGTGAA	0.577000													22	95					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47453167	47453167	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:47453167G>C	ENST00000265562.4	+	20	3956	c.3879G>C	c.(3877-3879)gaG>gaC	p.E1293D	PTPN23_ENST00000431726.1_Missense_Mutation_p.E1167D	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1293	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGAGGCTGAGATGGAGAAGG	0.587000													7	50					0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85598671	85598671	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:85598671A>G	ENST00000315658.7	+	8	852	c.593A>G	c.(592-594)gAc>gGc	p.D198G	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Missense_Mutation_p.D198G|ELMOD3_ENST00000409344.3_Missense_Mutation_p.D198G|ELMOD3_ENST00000409013.3_Missense_Mutation_p.D198G|ELMOD3_ENST00000393852.4_Missense_Mutation_p.D198G|ELMOD3_ENST00000428955.2_Missense_Mutation_p.D198G	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	198	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CACTGGGAGGACCTGGGCTTT	0.532000													15	98					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12905767	12905767	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:12905767G>A	ENST00000380659.3	+	3	2279	c.2140G>A	c.(2140-2142)Gtc>Atc	p.V714I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	714					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ACTGACCACTGTCCCTGAGAG	0.418000													15	76					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37933964	37933964	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:37933964G>A	ENST00000346872.3	-	7	827	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	IKZF3_ENST00000351680.3_Silent_p.L217L|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000350532.3_Intron|IKZF3_ENST00000377944.3_Silent_p.L113L|IKZF3_ENST00000535189.1_Silent_p.L222L|IKZF3_ENST00000467757.1_Silent_p.L200L|IKZF3_ENST00000394189.2_Silent_p.L74L|IKZF3_ENST00000439016.2_Silent_p.L161L|IKZF3_ENST00000377958.2_Silent_p.L169L|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000439167.2_Silent_p.L183L|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000583368.1_Silent_p.L9L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	256					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATCTGTCCAGTACGAGAGCT	0.398000													17	108					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676156	73676156	+	Silent	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:73676156T>A	ENST00000264448.6	+	8	2610	c.2499T>A	c.(2497-2499)gcT>gcA	p.A833A	ALMS1_ENST00000409009.1_Silent_p.A791A|ALMS1_ENST00000377715.1_Silent_p.A833A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	833	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCGAAGAGGCTCTGAAAGTTT	0.517000													19	93					0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227069674	227069674	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:227069674G>A	ENST00000366782.1	+	4	665	c.165G>A	c.(163-165)tcG>tcA	p.S55S	PSEN2_ENST00000340188.4_Silent_p.S22S|PSEN2_ENST00000391872.2_Silent_p.S55S|PSEN2_ENST00000422240.2_Silent_p.S22S|PSEN2_ENST00000366783.3_Silent_p.S22S			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	22					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CCCTAATGTCGGCTGAGAGCC	0.627000													13	73					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10207077	10207077	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:10207077G>A	ENST00000377157.3	+	18	2846	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	UBE4B_ENST00000253251.8_Silent_p.L711L|UBE4B_ENST00000343090.6_Silent_p.L840L	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	840					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AGAGCTTCCTGAGAAGATGTC	0.527000													17	113					0	0	1	0	0
CENPO	79172	broad.mit.edu	37	2	25038610	25038610	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:25038610G>A	ENST00000380834.2	+	5	1004	c.579G>A	c.(577-579)caG>caA	p.Q193Q	CENPO_ENST00000260662.1_Silent_p.Q193Q|CENPO_ENST00000395845.2_3'UTR|CENPO_ENST00000473706.1_Silent_p.Q187Q			Q9BU64	CENPO_HUMAN	centromere protein O	193					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGAAGTACCAGGCAGACCGGC	0.468000													25	121					0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561302	29561302	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:29561302C>A	ENST00000332303.4	-	1	731	c.608G>T	c.(607-609)cGg>cTg	p.R203L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	203	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCCTAAGCGCCGCAGAAAGTC	0.512000													15	77					3.27435e-08	3.87186e-08	1	1	0
HSPB11	51668	broad.mit.edu	37	1	54387365	54387365	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:54387365C>A	ENST00000194214.5	-	6	783	c.394G>T	c.(394-396)Gtt>Ttt	p.V132F	HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	132					cell adhesion|response to stress			p.V132I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TCTGCAGAAACGCTATGCACA	0.343000													3	135					1	1	1	1	0
C8orf76	84933	broad.mit.edu	37	8	124253497	124253497	+	Silent	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:124253497G>C	ENST00000276704.4	-	1	141	c.90C>G	c.(88-90)tcC>tcG	p.S30S	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	30							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGGCGCAGTAGGACGCGGGCG	0.731000													2	11					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:22473333A>G	ENST00000557788.2	-	0	20																											CCAGGAGGAGAAAGAACCACA	0.512000													3	36					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8752204	8752204	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:8752204C>T	ENST00000534127.1	-	6	1018	c.633G>A	c.(631-633)ccG>ccA	p.P211P	ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Silent_p.P211P|ST5_ENST00000313726.6_Silent_p.P211P|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	211					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGCAGGGGGACGGCACCACGC	0.642000													3	25					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132290129	132290129	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:132290129C>G	ENST00000331898.7	-	7	1574	c.996G>C	c.(994-996)tgG>tgC	p.W332C	OPCML_ENST00000541867.1_Missense_Mutation_p.W341C|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.W325C|OPCML_ENST00000374778.4_Missense_Mutation_p.W291C	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	332					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCCCTGATAGCCAGAGACAAG	0.498000													4	63					0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765251	19765251	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:19765251G>A	ENST00000405844.1	-	3	1040	c.345C>T	c.(343-345)atC>atT	p.I115I	TMEM196_ENST00000433641.1_Silent_p.I47I|TMEM196_ENST00000422233.1_Silent_p.I47I|TMEM196_ENST00000405764.3_Silent_p.I115I|TMEM196_ENST00000493519.1_Silent_p.I47I			Q5HYL7	TM196_HUMAN	transmembrane protein 196	121						integral to membrane		p.I115I(1)|p.I47I(1)		breast(1)|large_intestine(1)|lung(4)	6						TGCAGCCCCCGATCCCAATGC	0.532000													10	77					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56895798	56895798	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:56895798G>C	ENST00000301310.4	-	5	1146	c.988C>G	c.(988-990)Cag>Gag	p.Q330E	ZNF582_ENST00000586929.1_Missense_Mutation_p.Q330E	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGAACAGTCTGATGTTGAATC	0.383000													3	160					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31887714	31887714	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:31887714C>A	ENST00000253354.1	+	8	832	c.671C>A	c.(670-672)tCc>tAc	p.S224Y	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	224						extracellular space	lipid binding										GTGCCCATTTCCCTCAGCATT	0.557000											OREG0025869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	114					6.44725e-10	7.85304e-10	1	1	0
LINGO4	339398	broad.mit.edu	37	1	151774631	151774631	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:151774631T>A	ENST00000368820.3	-	2	1487	c.550A>T	c.(550-552)Acc>Tcc	p.T184S		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	184						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGTGAGGGTGCTCAACTTG	0.607000													17	88					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527612	70527612	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:70527612C>T	ENST00000381269.2	-	3	2582	c.1829G>A	c.(1828-1830)aGg>aAg	p.R610K	SLC8A3_ENST00000534137.1_Missense_Mutation_p.R610K|SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R610K|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000533541.1_Intron	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	610	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTCTCTTGCCTTTCGTATTC	0.398000													27	98					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38103919	38103919	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:38103919A>G	ENST00000592533.1	+	5	2070	c.1738A>G	c.(1738-1740)Aaa>Gaa	p.K580E	ZNF540_ENST00000343599.5_Missense_Mutation_p.K580E|ZNF540_ENST00000589117.1_Missense_Mutation_p.K548E|ZNF540_ENST00000316433.4_Missense_Mutation_p.K580E	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAACCATACAAATGTAAAGA	0.398000													9	127					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31642844	31642844	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:31642844G>A	ENST00000399332.1	-	5	1260	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	HECTD1_ENST00000553700.1_Missense_Mutation_p.R258C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	258					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTGGTGCTGCGACCTGGTTTG	0.493000													6	81					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32730182	32730182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:32730182G>T	ENST00000421745.2	+	50	9744	c.9610G>T	c.(9610-9612)Gag>Tag	p.E3204*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3204					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTTTCTTCCAGAGGAGGCTTG	0.502000													3	28					0.00024832	0.000277433	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51757808	51757808	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:51757808G>A	ENST00000251076.5	-	31	7845	c.7558C>T	c.(7558-7560)Cac>Tac	p.H2520Y	DMXL2_ENST00000543779.2_Missense_Mutation_p.H2521Y|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.H1884Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2520						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTGACATTGTGAAGTGCTAGT	0.343000													23	173					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762257	53762257	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:53762257G>A	ENST00000341702.3	+	1	713	c.629G>A	c.(628-630)gGt>gAt	p.G210D		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	210					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACATACATTGGTCTCTCCAAT	0.458000													6	57					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898224	104898224	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:104898224T>C	ENST00000507740.1	+	2	1057	c.821T>C	c.(820-822)gTa>gCa	p.V274A	RIMS2_ENST00000436393.2_Missense_Mutation_p.V244A|RIMS2_ENST00000406091.3_Missense_Mutation_p.V466A|RIMS2_ENST00000262231.10_Missense_Mutation_p.V274A	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	497					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCTCTGCTGTAAGAAAAACA	0.473000										HNSCC(12;0.0054)			16	71					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3135616	3135616	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr18:3135616C>A	ENST00000356443.4	-	15	2471	c.2138G>T	c.(2137-2139)cGc>cTc	p.R713L	MYOM1_ENST00000400569.3_Missense_Mutation_p.R713L|MYOM1_ENST00000261606.7_Missense_Mutation_p.R713L	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	713	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTAGAACAGCGGACACGGAA	0.512000													8	46					1.06961e-07	1.25563e-07	1	1	0
FEZ1	9638	broad.mit.edu	37	11	125322271	125322271	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:125322271G>T	ENST00000278919.3	-	8	1289	c.1055C>A	c.(1054-1056)gCc>gAc	p.A352D	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	352					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GGGAGGAGAGGCTTTCTTCTC	0.493000											OREG0021477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	50					1	1	1	1	0
CD163	9332	broad.mit.edu	37	12	7640635	7640635	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:7640635C>A	ENST00000359156.4	-	7	1671	c.1469G>T	c.(1468-1470)cGt>cTt	p.R490L	CD163_ENST00000396620.3_Missense_Mutation_p.R490L|CD163_ENST00000541972.1_Missense_Mutation_p.R478L|CD163_ENST00000432237.2_Missense_Mutation_p.R490L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	490	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.R490H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACTTCAACACGTCCAGAACA	0.478000													4	33					0.00024832	0.000277433	1	1	0
NPEPL1	79716	broad.mit.edu	37	20	57268962	57268962	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:57268962C>A	ENST00000356091.6	+	2	608	c.320C>A	c.(319-321)gCg>gAg	p.A107E	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.A59E|NPEPL1_ENST00000525967.1_Missense_Mutation_p.A79E	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	107					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCGCCCGGAGCGCATCGCTGC	0.706000													4	12					0.00909568	0.00975828	1	1	0
TTN	7273	broad.mit.edu	37	2	179596836	179596836	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:179596836A>C	ENST00000589042.1	-	57	17084	c.16860T>G	c.(16858-16860)aaT>aaG	p.N5620K	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4376K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N5303K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5303	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCAGCCTCATTTTGGGCCT	0.468000													19	225					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153039	5153039	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:5153039G>A	ENST00000307388.1	-	1	833	c.834C>T	c.(832-834)ctC>ctT	p.L278L		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GATTTGACAAGAGGATATGAA	0.398000													20	97					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100412850	100412850	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:100412850C>T	ENST00000375147.3	+	9	1219	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	321					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TTCACTGCATCATTAAGTCCC	0.403000													22	137					0	0	1	0	0
ERCC8	1161	broad.mit.edu	37	5	60199489	60199489	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:60199489G>A	ENST00000426742.2	-	7	796	c.362C>T	c.(361-363)tCt>tTt	p.S121F	ERCC8_ENST00000265038.5_Missense_Mutation_p.S179F|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000543101.1_Missense_Mutation_p.S26F			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	179					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TAGAATGTGAGAACAGGATCC	0.328000													8	96					0	0	1	0	0
NRSN2	80023	broad.mit.edu	37	20	333907	333907	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:333907C>T	ENST00000382291.3	+	4	483	c.243C>T	c.(241-243)acC>acT	p.T81T	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Silent_p.T81T	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	81						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CGGCTCTGACCACTGGCTATG	0.642000													20	125					0	0	1	0	0
PRCD	768206	broad.mit.edu	37	17	74538650	74538650	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:74538650G>A	ENST00000586148.1	+	3	211	c.159G>A	c.(157-159)ctG>ctA	p.L53L	PRCD_ENST00000592014.1_Silent_p.L53L|CYGB_ENST00000589145.1_Intron|PRCD_ENST00000592432.1_3'UTR			Q00LT1	PRCD_HUMAN	progressive rod-cone degeneration	53					response to stimulus|visual perception	cytoplasm|integral to membrane											AAGAACCTCTGAAGTAAGCCC	0.607000													7	64					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21693074	21693074	+	Silent	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr16:21693074G>T	ENST00000388958.3	+	5	196	c.195G>T	c.(193-195)acG>acT	p.T65T	OTOA_ENST00000286149.4_Silent_p.T65T	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	65					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ACGTGTGGACGGATGACCTGT	0.512000													10	51					0.00829132	0.00895462	1	1	0
HFM1	164045	broad.mit.edu	37	1	91781517	91781517	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:91781517T>A	ENST00000370425.3	-	28	3093	c.2995A>T	c.(2995-2997)Agt>Tgt	p.S999C	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.S231C|HFM1_ENST00000370424.3_Missense_Mutation_p.S678C	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	999	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTCGTATCACTATATCTTGTA	0.299000													10	48					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48707734	48707734	+	Splice_Site	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:48707734C>A	ENST00000316623.5	-	64	8505	c.8051_splice	c.e64+1	p.G2684_splice	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2684	EGF-like 47; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTGCTTACCCTTGGCCTATG	0.498000													3	70					1	1	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													2	12					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4428796	4428796	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:4428796G>A	ENST00000301280.5	+	8	1614	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	505					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAGCGGCGAGTTCTCCTT	0.582000								Chromatin Structure					10	69					0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27209178	27209178	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:27209178G>A	ENST00000394906.2	-	9	899	c.822C>T	c.(820-822)ttC>ttT	p.F274F	FLOT2_ENST00000394908.4_Silent_p.F219F|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.F219F			Q14254	FLOT2_HUMAN	flotillin 2	219					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TTTGCAGCTCGAAGGCTCGCT	0.542000													15	109					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	27					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39217727	39217727	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:39217727C>G	ENST00000399820.3	+	12	1300	c.1146C>G	c.(1144-1146)atC>atG	p.I382M	WDR19_ENST00000288634.7_Missense_Mutation_p.I222M|WDR19_ENST00000506503.1_Missense_Mutation_p.I382M	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	382					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AGCTACCAATCACAGTTTCTG	0.323000													2	11					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60906173	60906173	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:60906173G>A	ENST00000252999.3	-	29	3631	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1189	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGGCACCAGAGTGACCCCG	0.657000													3	16					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972705	29972705	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:29972705C>G	ENST00000378993.1	+	10	1941	c.1268C>G	c.(1267-1269)aCt>aGt	p.T423S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T423S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	423	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AATCAAGAGACTGGGGAAGAA	0.363000													9	45					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88483890	88483890	+	Silent	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:88483890G>T	ENST00000394480.1	-	15	2001	c.1680C>A	c.(1678-1680)ctC>ctA	p.L560L	NTRK3_ENST00000542733.2_Silent_p.L462L|NTRK3_ENST00000355254.2_Silent_p.L560L|NTRK3_ENST00000557856.1_Silent_p.L552L|NTRK3_ENST00000357724.2_Silent_p.L552L|NTRK3_ENST00000360948.2_Silent_p.L560L|NTRK3_ENST00000558676.1_Silent_p.L552L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	560	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGTCGGGCTGAGGTTGTAGC	0.582000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			39	120					1.08169e-08	1.28849e-08	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102074478	102074478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:102074478G>A	ENST00000369138.1	+	3	997	c.507G>A	c.(505-507)tgG>tgA	p.W169*	GRIK2_ENST00000358361.3_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.W120*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.W169*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.W169*|GRIK2_ENST00000421544.1_Nonsense_Mutation_p.W169*	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	169					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTTTCAAGTGGAAAACCGTCA	0.413000													6	111					0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64129153	64129153	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:64129153C>A	ENST00000528057.1	+	7	779	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	RPS6KA4_ENST00000334205.4_Missense_Mutation_p.L231M|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.L231M	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	231	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GCTCTTCGAGCTGCTGACGGG	0.687000													5	90					0.00116845	0.00127897	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25490631	25490631	+	RNA	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:25490631G>C	ENST00000453082.2	+	0	2719				SNORD115-41_ENST00000363608.1_RNA	NR_003343.1																						GGTTGGGTCAGTGATGAGAAC	0.517000													18	235					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580774	11580782	+	In_Frame_Del	DEL	TGGTGTTCG	TGGTGTTCG	-			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:11580774_11580782delTGGTGTTCG	ENST00000294484.6	+	10	2369_2377	c.2231_2239delTGGTGTTCG	c.(2230-2241)ccc>c	p.LVFA744del	PTCHD2_ENST00000389575.3_In_Frame_Del_p.LVFA744del	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	744					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ATCTTGTCCCTGGTGTTCGCCAGCCGGCT	0.656													7	66	---	---	---	---					
TUFT1	7286	broad.mit.edu	37	1	151547445	151547445	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:151547445delG	ENST00000368849.3	+	9	844	c.782delG	c.(781-783)cgfs	p.R261fs	TUFT1_ENST00000392712.3_Frame_Shift_Del_p.R206fs|TUFT1_ENST00000538902.1_Frame_Shift_Del_p.R280fs|TUFT1_ENST00000353024.3_Frame_Shift_Del_p.R202fs|TUFT1_ENST00000368848.2_Frame_Shift_Del_p.R236fs	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	261					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGAACTTCGGAGCAACAAT	0.547													2	4	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576																											GTATTCCTTTTTTTTCAGTGTA	0.347													3	6	---	---	---	---					
POTEE	445582	broad.mit.edu	37	2	131976431	131976431	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:131976431delC	ENST00000356920.5	+	1	550	c.456delC	c.(454-456)gtfs	p.V152fs	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Frame_Shift_Del_p.V152fs	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	152							ATP binding										GGGGTAAAGTCCCCAGAAAGG	0.572													14	204	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													7	150	---	---	---	---					
GPR98	84059	broad.mit.edu	37	5	90149257	90149258	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:90149257_90149258insG	ENST00000405460.2	+	80	17457_17458	c.17361_17362insG	c.(17359-17364)gcggaafs	p.E5788fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.E1449fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5788					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAATAATGGCTGGGAAAAGTAC	0.386													9	45	---	---	---	---					
EPPK1	83481	broad.mit.edu	37	8	144946991	144946992	+	Frame_Shift_Ins	INS	-	-	T	rs146779869	by1000genomes	TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:144946991_144946992insT	ENST00000525985.1	-	2	501_502	c.430_431insA	c.(430-432)ggcfs	p.G144fs				P58107	EPIPL_HUMAN	epiplakin 1	144						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCAGGGCCCTGTCCACAACC	0.688													9	60	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135947002	135947034	+	In_Frame_Del	DEL	CCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	CCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	-	rs75294797		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:135947002_135947034delCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	ENST00000372080.4	+	11	2138_2170	c.2122_2154delCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	c.(2122-2154)del	p.PTGDSETAPVP708del	CEL_ENST00000351304.7_In_Frame_Del_p.PTGDSETAPVP639del	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	705	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	p.P718T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTG	0.777													8	2	---	---	---	---					
CLEC4D	338339	broad.mit.edu	37	12	8671707	8671708	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:8671707_8671708insTT	ENST00000299665.2	+	4	528_529	c.335_336insTT	c.(334-336)ttcfs	p.F112fs		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	112	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAAAGGAACTGTTCAGGGATGG	0.505													7	114	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23447610	23447611	+	Frame_Shift_Ins	INS	-	-	ATTG			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:23447610_23447611insATTG	ENST00000262713.2	-	2	1425_1426	c.1050_1051insCAAT	c.(1048-1053)aacctgfs	p.L351fs	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.L351fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	351	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										GCCTGGCAGGCATTGCTCTGCC	0.545													36	140	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57442685	57442688	+	RNA	DEL	CCTT	CCTT	-	rs35764259		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:57442685_57442688delCCTT	ENST00000554725.1	+	0	344																											ATGTATTTAGccttccttccttcc	0.319													2	4	---	---	---	---					
