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
ZFPM2	23414	broad.mit.edu	37	8	106811063	106811063	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr8:106811063C>T	ENST00000407775.2	+	7	1101	c.851C>T	c.(850-852)tCa>tTa	p.S284L	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S15L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S152L|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	284					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S284L(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTCCGGTGTCAGAGGAAAAT	0.527000													47	133					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149460527	149460527	+	Missense_Mutation	SNP	G	G	A	rs139635308		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:149460527G>A	ENST00000286301.3	-	3	401	c.110C>T	c.(109-111)aCg>aTg	p.T37M	CSF1R_ENST00000543093.1_Missense_Mutation_p.T37M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	37	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.T37M(3)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CAAGGTCACCGTTGCTCCTGG	0.597000													14	43					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34015923	34015923	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr1:34015923G>A	ENST00000373381.4	-	56	8947	c.8771C>T	c.(8770-8772)cCg>cTg	p.P2924L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2899	Sushi 21.					integral to membrane|plasma membrane	protein binding	p.P2780L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGTGAGGCGGGGAGCCCGG	0.572000													23	92					0	0	1	0	0
PCDHB10	0	broad.mit.edu	37	5	140573541	140573541	+	Silent	SNP	C	C	T	rs17844565	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:140573541C>T	ENST00000239446.4	+	1	1600	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		472	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S472S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.662000													6	111					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19121828	19121828	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr22:19121828G>A	ENST00000252137.6	-	10	1355	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	438					nervous system development	catalytic step 2 spliceosome		p.P438S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTGCTTGTGGGGGTCTGCAGC	0.692000													16	35					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218679689	218679689	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:218679689A>C	ENST00000171887.4	-	25	4815	c.4363T>G	c.(4363-4365)Ttt>Gtt	p.F1455V	TNS1_ENST00000419504.1_Missense_Mutation_p.F1442V|TNS1_ENST00000430930.1_Missense_Mutation_p.F1434V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1455						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.F1455V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCTGGACAAACTTCACTTTA	0.498000													16	34					0	0	1	0	0
FBXO5	26271	broad.mit.edu	37	6	153292428	153292428	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:153292428T>C	ENST00000367241.3	-	5	1456	c.1076A>G	c.(1075-1077)tAt>tGt	p.Y359C	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.Y405C	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	405					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	p.Y405C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CTTCGTACAATAATCAAATCC	0.418000													18	148					0	0	1	0	0
AKAP7	9465	broad.mit.edu	37	6	131490307	131490307	+	Silent	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:131490307A>G	ENST00000431975.2	+	5	581	c.483A>G	c.(481-483)ggA>ggG	p.G161G	AKAP7_ENST00000368123.4_Silent_p.G139G|AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000541650.1_Silent_p.G160G	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	p.G139G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TCCTCCAGGGAAAACATTTGA	0.353000													61	211					0	0	1	0	0
TBC1D3P2	0	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													2	10					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79942411	79942411	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:79942411C>A	ENST00000373275.4	-	35	4172	c.3956G>T	c.(3955-3957)cGt>cTt	p.R1319L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1319	Bromo 2.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CGAGTCTTCACGTTCATAAAT	0.383000													3	105					1	1	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8485768	8485768	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr9:8485768C>G	ENST00000381196.4	-	25	3592	c.3049G>C	c.(3049-3051)Gat>Cat	p.D1017H	PTPRD_ENST00000540109.1_Missense_Mutation_p.D1017H|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1004H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D995H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1017H|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1017	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1017H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTACCTTGATCCACAGGCAGT	0.448000										TSP Lung(15;0.13)			17	44					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117645561	117645561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:117645561C>A	ENST00000368508.3	-	34	5773	c.5575G>T	c.(5575-5577)Gaa>Taa	p.E1859*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1853*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1859					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAACTTGTTTCTGGTATCCAA	0.294000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	108					1	1	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38816530	38816530	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:38816530C>T	ENST00000359357.3	+	35	4755	c.4501C>T	c.(4501-4503)Ctt>Ttt	p.L1501F	DNAH8_ENST00000449981.2_Missense_Mutation_p.L1718F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1501F					dynein, axonemal, heavy chain 8									p.L1501F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGGTTTATCTTGAAGCCGT	0.358000													16	177					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917480	65917480	+	Silent	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr15:65917480A>G	ENST00000261892.6	+	2	1349	c.1062A>G	c.(1060-1062)gtA>gtG	p.V354V	SLC24A1_ENST00000546330.1_Silent_p.V354V|SLC24A1_ENST00000544319.2_Silent_p.V354V|SLC24A1_ENST00000537259.1_Silent_p.V354V|SLC24A1_ENST00000399033.4_Silent_p.V354V|SLC24A1_ENST00000339868.6_Silent_p.V354V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	354					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	p.V354V(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGACCAGTGTATCAGCCATCA	0.552000													13	35					0	0	1	0	0
LTBR	4055	broad.mit.edu	37	12	6495568	6495568	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:6495568A>G	ENST00000228918.4	+	6	951	c.625A>G	c.(625-627)Acc>Gcc	p.T209A	LTBR_ENST00000541102.1_Missense_Mutation_p.T102A|LTBR_ENST00000539925.1_Missense_Mutation_p.T190A|LTBR_ENST00000543190.1_Silent_p.Q69Q	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	209					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	p.T209A(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GTCCGACACAACCTGCAAAAA	0.577000													11	29					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732100	152732100	+	Silent	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr1:152732100G>A	ENST00000368773.1	+	2	94	c.36G>A	c.(34-36)ccG>ccA	p.P12P	KPRP_ENST00000606109.1_Silent_p.P12P	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	12	Gln-rich.					cytoplasm		p.P12P(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGCCTGCCGCTCCAACAGT	0.582000													28	92					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179069810	179069810	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:179069810G>A	ENST00000471841.1	+	3	361	c.235G>A	c.(235-237)Gca>Aca	p.A79T	MFN1_ENST00000280653.7_Missense_Mutation_p.A79T|MFN1_ENST00000263969.5_Missense_Mutation_p.A79T	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	79					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATGAAGGTGGCATTTTTTGG	0.378000													6	466					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113321125	113321125	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:113321125C>T	ENST00000389385.4	+	16	1851	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	RPH3A_ENST00000543106.2_Missense_Mutation_p.R452W|RPH3A_ENST00000447659.2_Missense_Mutation_p.R403W|RPH3A_ENST00000415485.3_Missense_Mutation_p.R452W|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.R452W|RPH3A_ENST00000551052.1_Missense_Mutation_p.R448W|RPH3A_ENST00000548866.1_Missense_Mutation_p.R403W	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	452	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.R448W(1)|p.R452W(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAAAACTCTGCGGAATACCCG	0.562000													14	67					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9771302	9771302	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:9771302C>T	ENST00000383832.3	+	21	1778	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C		NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	530								p.R530C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GTCCTATATGCGCACCAGAGA	0.627000													14	78					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1081839	1081839	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:1081839C>A	ENST00000264930.5	-	9	1193	c.1150G>T	c.(1150-1152)Gcg>Tcg	p.A384S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	384					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCGCGTGCGCGTACGTACTC	0.667000													3	99					1	1	1	1	0
FKBP5	2289	broad.mit.edu	37	6	35588018	35588018	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:35588018G>A	ENST00000542713.1	-	4	441	c.284C>T	c.(283-285)gCt>gTt	p.A95V	FKBP5_ENST00000357266.4_Missense_Mutation_p.A95V|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.A95V|FKBP5_ENST00000536438.1_Missense_Mutation_p.A95V	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	95	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	p.A95V(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTTCATGGTAGCCACCCCAAT	0.423000													45	137					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160141224	160141224	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:160141224G>C	ENST00000357388.3	+	14	2482	c.2031G>C	c.(2029-2031)tgG>tgC	p.W677C	SMC4_ENST00000344722.5_Missense_Mutation_p.W677C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.W677C|SMC4_ENST00000469762.1_Missense_Mutation_p.W652C|SMC4_ENST00000360111.2_Missense_Mutation_p.W677C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	677	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGCTGTATGGGCGAAAAAGA	0.279000													4	253					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863634	52863634	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:52863634C>T	ENST00000252250.6	-	7	1291	c.1244G>A	c.(1243-1245)cGt>cAt	p.R415H		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	415	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.R415H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CATCTCCCCACGCTGCTCAGC	0.602000													19	75					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39645632	39645632	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr8:39645632G>A	ENST00000265708.4	-	9	884	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	ADAM2_ENST00000521880.1_Missense_Mutation_p.R261C|ADAM2_ENST00000347580.4_Missense_Mutation_p.R242C|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	261	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCATGAGGACGTAAAACAAGA	0.303000													4	159					0	0	1	0	0
ARHGDIB	397	broad.mit.edu	37	12	15102816	15102816	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:15102816G>A	ENST00000228945.4	-	3	329	c.185C>T	c.(184-186)cCg>cTg	p.P62L	ARHGDIB_ENST00000541546.1_Missense_Mutation_p.P62L|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.P62L	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	62					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	p.P62L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GGGGGCTTTCGGATCTGCAGG	0.483000													28	109					0	0	1	0	0
AOC4P	0	broad.mit.edu	37	17	41020769	41020769	+	RNA	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr17:41020769G>A	ENST00000585538.1	+	0	1608					NR_002773.1																						CCACACCACCGGCTACATCAG	0.527000													17	27					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239589	65239589	+	Silent	SNP	G	G	T	rs142168941		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:65239589G>T	ENST00000389722.3	-	25	5315	c.5262C>A	c.(5260-5262)atC>atA	p.I1754I	SPTB_ENST00000389720.3_Silent_p.I1754I|SPTB_ENST00000542895.1_Silent_p.I1754I|SPTB_ENST00000389721.5_Silent_p.I1754I|SPTB_ENST00000556626.1_Silent_p.I1754I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1754					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.I1754I(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGAGTCGCTCGATGAAGGCAT	0.637000													18	52					1.74485e-21	2.14279e-21	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155254246	155254246	+	Silent	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr4:155254246G>A	ENST00000357232.3	-	9	1616	c.1617C>T	c.(1615-1617)aaC>aaT	p.N539N	DCHS2_ENST00000339452.1_Silent_p.N1038N|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	539	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N1038N(1)|p.N539N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGGCTGCCGTTGAGGAACA	0.672000													4	49					0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58862934	58862934	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:58862934G>A	ENST00000263100.3	-	5	794	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	245	Ig-like V-type 3.					extracellular region		p.R245C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TTCTCCCCGCGCCGTAGCTGG	0.627000													10	47					0	0	1	0	0
WHAMMP3	0	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465	by1000genomes	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1																						TGATTTTCTTCGCACTGATCC	0.408000													3	72					0	0	1	0	0
PCDHGC5	0	broad.mit.edu	37	5	140870417	140870417	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:140870417G>A	ENST00000252087.1	+	1	1610	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		537	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R537P(2)|p.R537Q(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGGTTCGAGACTCCGGC	0.537000													37	109					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50378349	50378349	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:50378349G>A	ENST00000376020.2	-	4	749	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	SHROOM4_ENST00000289292.7_Missense_Mutation_p.R242C|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R126C	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	242					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.R242C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCATTGGTGCGCCGACTACCT	0.637000													3	9					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024179	55024179	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr18:55024179A>T	ENST00000324000.3	+	3	2372	c.338A>T	c.(337-339)aAt>aTt	p.N113I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	113					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.N113I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTAATAAAAAATTTTTCTTTG	0.318000													35	146					0	0	1	0	0
DDX28	55794	broad.mit.edu	37	16	68056489	68056489	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr16:68056489C>A	ENST00000332395.5	-	1	1281	c.617G>T	c.(616-618)gGc>gTc	p.G206V		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	206	Helicase ATP-binding.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.G206V(2)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		AAGGACCAGGCCTCGGGGCGC	0.662000													6	69					0.00116845	0.00134084	1	1	0
CLEC1A	51267	broad.mit.edu	37	12	10234003	10234003	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:10234003T>A	ENST00000315330.4	-	3	286	c.224A>T	c.(223-225)tAc>tTc	p.Y75F	CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y42F	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	75					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.Y75F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GAGCTGGTAGTACTGAAAAAC	0.363000													30	103					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382213	41382213	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:41382213G>A	ENST00000377801.3	-	2	601	c.527C>T	c.(526-528)gCc>gTc	p.A176V	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A176V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	176	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACTTCCTGGGCAAAAATCGC	0.448000													6	364					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898106	175898106	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr4:175898106A>G	ENST00000359240.3	+	5	2100	c.1430A>G	c.(1429-1431)gAt>gGt	p.D477G	ADAM29_ENST00000445694.1_Missense_Mutation_p.D477G|ADAM29_ENST00000514159.1_Missense_Mutation_p.D477G|ADAM29_ENST00000404450.4_Missense_Mutation_p.D477G	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	477	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.D477G(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGTGCCCAGATGACTTTTAT	0.448000													40	159					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	22001955	22001955	+	Silent	SNP	T	T	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:22001955T>G	ENST00000594012.1	-	5	568	c.54A>C	c.(52-54)gcA>gcC	p.A18A	ZNF43_ENST00000354959.4_Silent_p.A24A|ZNF43_ENST00000598381.1_Silent_p.A18A|ZNF43_ENST00000598288.1_Silent_p.A18A|ZNF43_ENST00000595461.1_Silent_p.A18A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A24A(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AATTCTGCTGTGCAATGTCCA	0.398000													74	236					0	0	1	0	0
TMEM205	374882	broad.mit.edu	37	19	11453676	11453676	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:11453676C>A	ENST00000354882.5	-	3	811	c.385G>T	c.(385-387)Gag>Tag	p.E129*	RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586218.1_Nonsense_Mutation_p.E68*|TMEM205_ENST00000593256.2_Nonsense_Mutation_p.E129*|TMEM205_ENST00000447337.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586956.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000587948.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586590.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000588560.1_Nonsense_Mutation_p.E129*			Q6UW68	TM205_HUMAN	transmembrane protein 205	129						integral to membrane				endometrium(1)|lung(1)	2						CCTGGTACCTCCCCACCCAGG	0.647000													4	135					0.150653	0.164777	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112717041	112717041	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:112717041A>G	ENST00000550722.1	-	9	1641	c.1246T>C	c.(1246-1248)Tct>Cct	p.S416P	HECTD4_ENST00000430131.2_Missense_Mutation_p.S166P|HECTD4_ENST00000377560.5_Missense_Mutation_p.S416P	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.S416P(1)|p.S166P(1)									CTTTTTAAAGATGACAAACCA	0.398000													25	92					0	0	1	0	0
IGHG1	0	broad.mit.edu	37	14	106208714	106208714	+	RNA	SNP	A	A	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:106208714A>T	ENST00000390548.2	-	0	303																											TTGTCACAAGATTTGGGCTCT	0.582000													6	245					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73719443	73719443	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:73719443C>T	ENST00000427855.1	+	11	1156	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	PAPLN_ENST00000381166.3_Missense_Mutation_p.R352W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R325W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R352W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R352W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	352	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.R352W(1)|p.R325W(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGCTGACCGGCGTTCCTG	0.642000													39	125					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301582	42301582	+	Silent	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:42301582G>A	ENST00000357396.3	+	2	367	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CEACAM3_ENST00000221999.4_Silent_p.P42P|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Silent_p.P42P	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	42	Ig-like V-type.					integral to membrane		p.P42P(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATCCATGCCGCTCAGTGTCG	0.522000													62	174					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	168					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1133461	1133461	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:1133461G>A	ENST00000308624.5	+	6	506	c.377G>A	c.(376-378)gGc>gAc	p.G126D	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	126	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.G126D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGGTTAATGGCATACATGTA	0.269000													19	157					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106788	55106788	+	Silent	SNP	G	G	A	rs112681015	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:55106788G>A	ENST00000453777.1	+	5	752	c.582G>A	c.(580-582)tcG>tcA	p.S194S	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Silent_p.S194S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	194	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.S194S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCAGGTGGTCGTACAGGTGCT	0.572000													52	186					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49457141	49457141	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr10:49457141G>T	ENST00000374201.3	-	3	534	c.232C>A	c.(232-234)Cat>Aat	p.H78N	FRMPD2_ENST00000305531.3_Missense_Mutation_p.H76N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.H69N	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	78	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.H78N(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCCTCTATATGAGAAACACGG	0.532000													17	45					1.64113e-05	1.94711e-05	1	1	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	84					0	0	1	0	0
CSF2RA	0	broad.mit.edu	37	X	1407464	1407464	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:1407464G>T	ENST00000381524.3	+	5	458	c.272G>T	c.(271-273)gGa>gTa	p.G91V	CSF2RA_ENST00000361536.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G91V|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G91V			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	91						extracellular region|integral to plasma membrane	cytokine receptor activity	p.G91V(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGCATGAAGGAGTCACATTT	0.418000													146	521					3.67666e-70	4.59582e-70	1	1	0
ITGAL	0	broad.mit.edu	37	16	30495266	30495266	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr16:30495266C>T	ENST00000356798.6	+	8	1021	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	ITGAL_ENST00000358164.5_Missense_Mutation_p.R198C|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	281	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.R281S(1)|p.R281C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGACATCATCCGCTACATCAT	0.587000													31	252					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106064139	106064139	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:106064139G>T	ENST00000357242.5	+	3	448	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	92						intracellular	calcium ion binding|Rab GTPase activator activity	p.D92Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAGCATTGGGATTGGTTGGA	0.308000													48	55					8.86878e-18	1.07037e-17	1	1	0
DGCR14	8220	broad.mit.edu	37	22	19132152	19132152	+	Translation_Start_Site	SNP	A	A	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr22:19132152A>T	ENST00000252137.6	-	1	45	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	1					nervous system development	catalytic step 2 spliceosome		p.M1K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CGGCGTCTCCATCGCTATCCC	0.682000													3	9					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166165901	166165901	+	Silent	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:166165901G>A	ENST00000375437.2	+	6	935	c.645G>A	c.(643-645)gcG>gcA	p.A215A	SCN2A_ENST00000375427.2_Intron|SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000283256.6_Silent_p.A215A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	215					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A215A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATGTCTCAGCGTTGAGAACAT	0.438000													7	114					0	0	1	0	0
C12orf63	0	broad.mit.edu	37	12	97093817	97093817	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:97093817delA	ENST00000524981.3	+	13	1773	c.1773delA	c.(1771-1773)ggfs	p.G591fs				Q6ZTY8	CL063_HUMAN		565										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTTTCTATGGAAAAAACATGC	0.343													56	247	---	---	---	---					
TRIM37	4591	broad.mit.edu	37	17	57128666	57128666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr17:57128666delA	ENST00000376149.3	-	14	1666	c.857delT	c.(856-858)tcfs	p.F287fs	TRIM37_ENST00000393065.2_Frame_Shift_Del_p.F375fs|TRIM37_ENST00000393066.3_Frame_Shift_Del_p.F409fs|TRIM37_ENST00000262294.7_Frame_Shift_Del_p.F409fs			O94972	TRI37_HUMAN	tripartite motif containing 37	409	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTTTGAAAGAAAGTTGGTGA	0.338									Mulibrey Nanism				32	127	---	---	---	---					
JUNB	3726	broad.mit.edu	37	19	12903424	12903425	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:12903424_12903425insG	ENST00000302754.4	+	1	1115_1116	c.839_840insG	c.(838-840)cgcfs	p.R280fs		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	280						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CGGAACCGGCTGGCGGCCACCA	0.688													3	4	---	---	---	---					
