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
ZSCAN25	221785	broad.mit.edu	37	7	99226951	99226951	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:99226951G>C	ENST00000394152.2	+	8	1270	c.943G>C	c.(943-945)Ggt>Cgt	p.G315R	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.G315R|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.G243R|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		GCAGGAGCCTGGTGGCCCTGC	0.637000													9	56					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24717999	24717999	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:24717999G>A	ENST00000314328.9	+	5	1336	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	SPECC1L_ENST00000437398.1_Missense_Mutation_p.E351K|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.E351K|SPECC1L_ENST00000541492.1_Missense_Mutation_p.E351K|SPECC1L_ENST00000416735.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	351					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TGAGTGCAGTGAGGTCTACCA	0.547000													13	66					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160395046	160395046	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160395046C>T	ENST00000368061.2	+	8	1918	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	482					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTCTTAAAACGCCAGGACTT	0.532000													4	59					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57114321	57114321	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:57114321C>G	ENST00000454682.1	-	3	1274	c.993G>C	c.(991-993)ttG>ttC	p.L331F	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.L331F	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGGGTCTGACAAAGCACTAG	0.453000			T	BCL6	NHL								3	37					0	0	1	0	0
RPL26L1	51121	broad.mit.edu	37	5	172396492	172396492	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:172396492G>C	ENST00000521476.1	+	4	510	c.386G>C	c.(385-387)gGa>gCa	p.G129A	RPL26L1_ENST00000519239.1_Missense_Mutation_p.G129A|RPL26L1_ENST00000265100.2_Missense_Mutation_p.G129A|RPL26L1_ENST00000519974.1_Missense_Mutation_p.G129A			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	129					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGACAAGTTGGAAAAGAGAAA	0.408000													5	95					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4080558	4080558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:4080558G>A	ENST00000341657.4	-	19	2673	c.2638C>T	c.(2638-2640)Cag>Tag	p.Q880*	ANKFY1_ENST00000574367.1_Nonsense_Mutation_p.Q881*|ANKFY1_ENST00000570535.1_Nonsense_Mutation_p.Q922*|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	880						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCAGAGTTCTGAACTGCCACA	0.473000													28	53					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48879982	48879982	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:48879982G>C	ENST00000314014.2	+	3	218	c.87G>C	c.(85-87)atG>atC	p.M29I	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.M29I	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	29										endometrium(1)|large_intestine(4)	5						AAGAGACAATGAGACCACAGG	0.458000													12	63					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514143	157514143	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:157514143C>G	ENST00000361835.3	-	5	910	c.753G>C	c.(751-753)tgG>tgC	p.W251C	FCRL5_ENST00000368190.3_Missense_Mutation_p.W251C|FCRL5_ENST00000356953.4_Missense_Mutation_p.W251C|FCRL5_ENST00000368191.3_Missense_Mutation_p.W166C|FCRL5_ENST00000368189.3_Missense_Mutation_p.W251C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	251	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AATCTTTACTCCACATGGCAG	0.512000													13	171					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119142469	119142469	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:119142469C>T	ENST00000264033.4	+	3	844	c.468C>T	c.(466-468)ctC>ctT	p.L156L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	156	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AACTGTCCCTCATCTTCAGCC	0.368000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				33	49					0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32051353	32051353	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32051353G>A	ENST00000271064.7	+	10	1169		c.e10-1		TINAGL1_ENST00000457433.2_Splice_Site|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1						endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		TCTGCCCACAGCCCTCATGGA	0.597000													5	18					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113445538	113445538	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:113445538C>G	ENST00000392583.2	+	9	1892	c.1685C>G	c.(1684-1686)tCt>tGt	p.S562C	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.S562C	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	562	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCAAAGGGGTCTTTGCCCCCA	0.547000													19	108					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755219	146755219	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:146755219G>C	ENST00000361719.2	+	9	3342	c.2872G>C	c.(2872-2874)Gag>Cag	p.E958Q	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.E958Q|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	958					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTACAACGTAGAGGAGGAGGA	0.582000													22	70					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43738684	43738684	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:43738684C>T	ENST00000263801.3	-	14	3178	c.2926G>A	c.(2926-2928)Ggg>Agg	p.G976R	TP53BP1_ENST00000450115.2_Missense_Mutation_p.G981R|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G981R|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G981R	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	976					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGCAGCCCCAGAATCCCCT	0.473000								Other conserved DNA damage response genes					29	76					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156743110	156743110	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:156743110A>G	ENST00000275820.3	+	1	694	c.679A>G	c.(679-681)Aaa>Gaa	p.K227E		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	227	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGAGTCTGGGAAAAATAGCGG	0.552000													13	74					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61869892	61869892	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:61869892G>C	ENST00000403491.3	+	8	1676	c.1192G>C	c.(1192-1194)Gaa>Caa	p.E398Q	NFIA_ENST00000371185.2_Missense_Mutation_p.E376Q|NFIA_ENST00000485903.2_Missense_Mutation_p.E355Q|NFIA_ENST00000371184.2_Missense_Mutation_p.E269Q|NFIA_ENST00000407417.3_Missense_Mutation_p.E390Q|NFIA_ENST00000371191.1_Missense_Mutation_p.E421Q|NFIA_ENST00000371189.4_Missense_Mutation_p.E443Q|NFIA_ENST00000357977.5_Missense_Mutation_p.E46Q|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371187.3_Missense_Mutation_p.E398Q	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	398					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GACGCTGAAAGAATTTGTCCA	0.493000													5	48					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171073096	171073096	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:171073096G>A	ENST00000367755.4	+	3	414	c.303G>A	c.(301-303)ctG>ctA	p.L101L	FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Silent_p.L81L|FMO3_ENST00000392085.2_Silent_p.L101L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	101					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAACCTCCTGAAGTACATAC	0.378000													12	55					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76126675	76126675	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:76126675C>T	ENST00000324432.5	+	7	1541	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	DTX2_ENST00000307569.8_Intron|DTX2_ENST00000446600.1_Missense_Mutation_p.S253L|DTX2_ENST00000413936.2_Missense_Mutation_p.S344L|DTX2_ENST00000446820.2_Intron|DTX2_ENST00000430490.2_Missense_Mutation_p.S344L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	344					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTTCTGATGTCAGCCATTGGA	0.577000													22	138					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54048534	54048534	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:54048534G>C	ENST00000373980.4	+	15	2175	c.1758G>C	c.(1756-1758)ttG>ttC	p.L586F	PRKG1_ENST00000373985.1_Missense_Mutation_p.L559F|PRKG1_ENST00000401604.2_Missense_Mutation_p.L571F|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.L289F|PRKG1-AS1_ENST00000426785.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	571	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACATCATATTGAGGGGGATTG	0.343000													5	64					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34818975	34818975	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:34818975C>G	ENST00000299505.6	+	6	1896	c.1023C>G	c.(1021-1023)acC>acG	p.T341T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	341										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGCTCCCCACCGTCCCTGTGC	0.607000													18	91					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304481	28304481	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:28304481C>T	ENST00000284987.5	-	6	2012	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	631	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCACACTGTTCATGACGAAAT	0.363000													7	37					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153539540	153539540	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:153539540C>T	ENST00000369915.3	+	5	810	c.621C>T	c.(619-621)caC>caT	p.H207H	TKTL1_ENST00000369912.2_Silent_p.H151H|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	207					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGTGAAGCACAAGCCCACTG	0.587000													25	82					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209974736	209974736	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:209974736A>T	ENST00000367021.3	-	3	195	c.23T>A	c.(22-24)gTc>gAc	p.V8D	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	8					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTTAGCCGGACTCTGCGGGG	0.597000										HNSCC(57;0.16)			16	56					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507349	130507349	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:130507349G>T	ENST00000314830.8	-	7	1407	c.1294C>A	c.(1294-1296)Cct>Act	p.P432T	SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.P78T|SH2D3C_ENST00000420366.1_Missense_Mutation_p.P274T|SH2D3C_ENST00000373277.4_Missense_Mutation_p.P275T|SH2D3C_ENST00000373276.3_Missense_Mutation_p.P364T|SH2D3C_ENST00000373274.3_Missense_Mutation_p.P272T	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	432					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGGCAGAAGGGGCTGCAGGG	0.627000													15	27					3.27435e-08	3.71405e-08	1	1	0
FAH	2184	broad.mit.edu	37	15	80467381	80467381	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:80467381G>T	ENST00000539156.1	+	9	2889	c.651G>T	c.(649-651)ctG>ctT	p.L217L	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Silent_p.L287L|FAH_ENST00000407106.1_Silent_p.L287L|FAH_ENST00000561421.1_Silent_p.L287L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	287					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCCGTATCTGTGCCATGACG	0.587000									Tyrosinemia, type 1				8	47					1.12685e-05	1.22564e-05	1	1	0
PIGR	5284	broad.mit.edu	37	1	207110743	207110743	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:207110743C>G	ENST00000356495.4	-	4	925	c.742G>C	c.(742-744)Gac>Cac	p.D248H		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	248						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCCTCAGGTCTTCATAAACC	0.547000													12	68					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701308	56701308	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:56701308C>T	ENST00000586855.2	-	5	1689	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R459H			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	459					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGAGTGGGTGCGCTGGTGAAC	0.537000													25	24					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4735736	4735736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:4735736G>A	ENST00000545990.2	-	5	2856	c.2332C>T	c.(2332-2334)Caa>Taa	p.Q778*	AKAP3_ENST00000228850.1_Nonsense_Mutation_p.Q778*|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	778					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GCTACCCATTGAAGGACGGCT	0.493000													5	71					0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68805240	68805240	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:68805240G>A	ENST00000355237.2	+	3	759	c.323G>A	c.(322-324)gGa>gAa	p.G108E	OCLN_ENST00000396442.2_Missense_Mutation_p.G108E|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.G108E	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	108	Gly/Tyr-rich.|MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCTTATGGAGGAAGTGGCTTT	0.522000													18	96					0	0	1	0	0
MIR548M	100313772	broad.mit.edu	37	X	94318152	94318152	+	RNA	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:94318152G>T	ENST00000408260.1	-	0	73					NR_031667.1																						ATAttaggttggtgcaaaggt	0.328000													3	20					0.00909568	0.00935488	1	1	0
THBS3	7059	broad.mit.edu	37	1	155170384	155170384	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:155170384G>T	ENST00000368378.3	-	14	1586	c.1566C>A	c.(1564-1566)ttC>ttA	p.F522L	THBS3_ENST00000541990.1_Missense_Mutation_p.F51L|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.F402L|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	522					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTGTTGGGGAACAGCCGGC	0.517000													10	76					1.58986e-06	1.75815e-06	1	1	0
ANKEF1	63926	broad.mit.edu	37	20	10030184	10030184	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:10030184C>G	ENST00000378380.3	+	6	1296	c.967C>G	c.(967-969)Cca>Gca	p.P323A	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.P323A|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		AAATCCAAATCCACTGTGGGC	0.517000													7	80					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205027351	205027351	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:205027351C>T	ENST00000331830.4	+	4	542	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	86	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCCAGGTTCCCGTCACCAGC	0.632000													4	25					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93709011	93709011	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:93709011C>A	ENST00000334746.5	-	11	3314	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	BTBD7_ENST00000554565.1_Nonsense_Mutation_p.E652*|BTBD7_ENST00000393170.2_Nonsense_Mutation_p.E577*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1003										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CTAGCTTCTTCCTGTTTTTTA	0.493000													59	87					2.5401e-28	3.05581e-28	1	1	0
UNC13B	10497	broad.mit.edu	37	9	35396570	35396570	+	Silent	SNP	C	C	T	rs150684985		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:35396570C>T	ENST00000378495.3	+	26	3381	c.3159C>T	c.(3157-3159)gtC>gtT	p.V1053V	UNC13B_ENST00000396787.1_Silent_p.V1065V|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Silent_p.V1053V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1053	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.V1053V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTGCCTGTCCTCCAGGGGC	0.547000													23	51					0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108679440	108679440	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:108679440T>C	ENST00000565488.1	-	10	1488	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	SLC25A24_ENST00000370041.4_Silent_p.P404P	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	423					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TATTCAGCTGTGGGGAACCTT	0.373000													9	36					0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57118338	57118338	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:57118338G>A	ENST00000263314.2	+	8	842	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	270					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CAGCGTTTCTGAGAAAAGCAG	0.552000													11	36					0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27351315	27351315	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:27351315C>A	ENST00000316470.4	+	2	235	c.121C>A	c.(121-123)Cgg>Agg	p.R41R		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	41						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGAGGCCTCGGCTGGTGGC	0.602000													14	50					3.27435e-08	3.71405e-08	1	1	0
ANKFY1	51479	broad.mit.edu	37	17	4080500	4080500	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:4080500G>A	ENST00000341657.4	-	19	2731	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	ANKFY1_ENST00000574367.1_Missense_Mutation_p.S900L|ANKFY1_ENST00000570535.1_Missense_Mutation_p.S941L|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	899						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTGGACTCTTGAATTCACATT	0.473000													27	47					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1151641	1151641	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:1151641G>C	ENST00000356191.2	+	1	15	c.15G>C	c.(13-15)cgG>cgC	p.R5R						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTGTTGGCCGGAGGAAGCTGG	0.662000													3	3					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56746399	56746399	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:56746399C>G	ENST00000267460.4	+	3	499	c.213C>G	c.(211-213)atC>atG	p.I71M		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	71					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						attaGGCTATCAGCTGCAAAG	0.373000													15	54					0	0	1	0	0
CLDN5	7122	broad.mit.edu	37	22	19511148	19511148	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:19511148C>T	ENST00000406028.1	-	2	1946	c.886G>A	c.(886-888)Gac>Aac	p.D296N	CLDN5_ENST00000413119.2_Missense_Mutation_p.D296N|CLDN5_ENST00000403084.1_Missense_Mutation_p.D296N			O00501	CLD5_HUMAN	claudin 5	211					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					TTGTCGTAGTCGCCGGTGGCC	0.716000													4	29					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30419888	30419888	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:30419888C>T	ENST00000375994.2	+	11	1932	c.1659C>T	c.(1657-1659)cgC>cgT	p.R553R	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Silent_p.R553R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	553					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTAACCGACGCCTTAAGTCCC	0.592000													7	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413895	179413895	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179413895T>A	ENST00000589042.1	-	339	92682	c.92458A>T	c.(92458-92460)Aac>Tac	p.N30820Y	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N21947Y|TTN_ENST00000460472.2_Missense_Mutation_p.N21755Y|TTN_ENST00000359218.5_Missense_Mutation_p.N21880Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N28252Y|TTN_ENST00000591111.1_Missense_Mutation_p.N29179Y|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29179	Fibronectin type-III 124.						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)			CCTGGTGGGTTGACGGGCTCT	0.463000													5	44					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607931	53607931	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:53607931A>G	ENST00000425354.2	-	7	1212	c.725T>C	c.(724-726)gTg>gCg	p.V242A	RARG_ENST00000327550.3_Missense_Mutation_p.V170A|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.V242A|RARG_ENST00000338561.5_Missense_Mutation_p.V231A|RARG_ENST00000543726.1_Missense_Mutation_p.V220A	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	242	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCAAACTCCACGATCTTGAT	0.557000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	122					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31573573	31573573	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:31573573A>T	ENST00000356173.3	-	11	958	c.866T>A	c.(865-867)cTg>cAg	p.L289Q	SUN5_ENST00000375523.3_Missense_Mutation_p.L264Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	289	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GGCGGTGTCCAGGCTGCCTGA	0.562000													4	40					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31644371	31644371	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:31644371G>A	ENST00000375494.3	+	2	148	c.148G>A	c.(148-150)Gag>Aag	p.E50K		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	50	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										ACTGGTTGGGGAGCCCATTCT	0.607000													43	73					0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3548011	3548011	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:3548011C>A	ENST00000355415.2	-	4	841	c.672G>T	c.(670-672)gtG>gtT	p.V224V	MFSD12_ENST00000398558.4_Silent_p.V224V|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Silent_p.V224V	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	224					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CGACACCCACCACCAGCAGGG	0.701000													3	23					0.004672	0.00484278	1	1	0
FAU	2197	broad.mit.edu	37	11	64889260	64889260	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:64889260T>A	ENST00000529259.1	-	1	127	c.26A>T	c.(25-27)gAg>gTg	p.E9V	FAU_ENST00000529639.1_Missense_Mutation_p.E9V|FAU_ENST00000531743.1_Missense_Mutation_p.E9V|FAU_ENST00000279259.3_Missense_Mutation_p.E9V|FAU_ENST00000525297.1_Missense_Mutation_p.E9V|FAU_ENST00000527548.1_Missense_Mutation_p.E9V|FAU_ENST00000434372.2_Missense_Mutation_p.E9V			P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	9										NS(3)|kidney(1)|large_intestine(2)	6						GGTGTGTAGCTCCTGGGCGCG	0.527000													5	42					0	0	1	0	0
NOP9	161424	broad.mit.edu	37	14	24769358	24769358	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:24769358C>T	ENST00000267425.3	+	1	291	c.198C>T	c.(196-198)cgC>cgT	p.R66R	NOP9_ENST00000396802.3_Silent_p.R66R	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		GATATTTCCGCCGGGCGCTGT	0.637000													12	92					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108192066	108192066	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:108192066A>G	ENST00000278616.4	+	45	6876	c.6491A>G	c.(6490-6492)gAg>gGg	p.E2164G	ATM_ENST00000452508.2_Missense_Mutation_p.E2164G|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2164	FAT.		E -> K (in T-prolymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CGCAGCCTTGAGTCTGTGTAT	0.413000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			10	78					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67412598	67412598	+	Missense_Mutation	SNP	C	C	A	rs142720670		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:67412598C>A	ENST00000255082.3	-	6	722	c.552G>T	c.(550-552)caG>caT	p.Q184H	ACY3_ENST00000529256.1_Missense_Mutation_p.Q63H	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	184					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GCAGCACACCCTGTGGCTGGG	0.602000													24	82					1.10513e-12	1.30967e-12	1	1	0
TBC1D32	221322	broad.mit.edu	37	6	121562637	121562637	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:121562637G>C	ENST00000275159.6	-	19	2218	c.2219C>G	c.(2218-2220)gCa>gGa	p.A740G	TBC1D32_ENST00000398212.2_Missense_Mutation_p.A740G					TBC1 domain family, member 32																		AATGCCACCTGCTGCTGTTGA	0.338000													6	27					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181754895	181754895	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:181754895A>T	ENST00000526775.1	+	42	5834	c.5669A>T	c.(5668-5670)cAg>cTg	p.Q1890L	CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1909L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q1909L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1516L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q1860L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1890L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q1841L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1909					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTCTGCCTCAGGAGATCATT	0.507000													20	248					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145624759	145624759	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:145624759C>T	ENST00000349769.3	-	14	1393	c.1299G>A	c.(1297-1299)gcG>gcA	p.A433A		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	433					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.A433A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCGACTTACCCGCAGCTGCAC	0.657000													7	22					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902718	247902718	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:247902718C>T	ENST00000283225.2	+	1	802	c.802C>T	c.(802-804)Cta>Tta	p.L268L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.L268V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						ACCTTCTATTCTAGACTTGCT	0.443000													4	36					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175052985	175052985	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:175052985T>A	ENST00000239462.4	+	5	1261	c.1148T>A	c.(1147-1149)cTg>cAg	p.L383Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	383	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TACTACAAGCTGCGATATGGC	0.552000													6	80					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134635196	134635196	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:134635196G>A	ENST00000361388.2	+	9	1645	c.1179G>A	c.(1177-1179)atG>atA	p.M393I	CALD1_ENST00000422748.1_Missense_Mutation_p.M393I|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.M361I|CALD1_ENST00000393118.2_Missense_Mutation_p.M387I|CALD1_ENST00000417172.1_Missense_Mutation_p.M367I|CALD1_ENST00000361901.2_Missense_Mutation_p.M367I|CALD1_ENST00000543443.1_Missense_Mutation_p.M372I|CALD1_ENST00000495522.1_Missense_Mutation_p.M387I|CALD1_ENST00000361675.2_Missense_Mutation_p.M622I	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	622					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GCCAGAAGATGCCAGAAGATG	0.418000													5	58					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287326	62287326	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:62287326C>A	ENST00000378024.4	-	5	14837	c.14563G>T	c.(14563-14565)Gac>Tac	p.D4855Y	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4855					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAATCCAGGTCAACATCAGGT	0.433000													24	91					2.89027e-11	3.39478e-11	1	1	0
PARP14	54625	broad.mit.edu	37	3	122420202	122420202	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:122420202T>G	ENST00000474629.2	+	6	3067	c.2801T>G	c.(2800-2802)gTg>gGg	p.V934G		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	934	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGCCGATGCGTGGAGACCATT	0.448000													8	51					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61543557	61543557	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:61543557C>T	ENST00000278836.5	+	9	1437	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	MYRF_ENST00000327797.1_Silent_p.I72I|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.I438I	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CCATTAACATCGAGCAGTCCC	0.622000													5	64					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31560610	31560610	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:31560610C>G	ENST00000379416.3	-	35	3896	c.3848G>C	c.(3847-3849)cGa>cCa	p.R1283P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1283					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGCTGAGCTCGAGCTGCACG	0.577000													16	36					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47695171	47695171	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:47695171C>G	ENST00000397708.1	-	7	2181	c.1927G>C	c.(1927-1929)Gag>Cag	p.E643Q	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E643Q			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	643					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTCCTTCTCAGGACACATA	0.537000													5	17					0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47604194	47604194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:47604194C>A	ENST00000383738.2	-	5	3695	c.1597G>T	c.(1597-1599)Gag>Tag	p.E533*	CSPG5_ENST00000456150.1_Nonsense_Mutation_p.E368*|CSPG5_ENST00000264723.4_Nonsense_Mutation_p.E506*	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	533					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AATGACTCCTCCTCTTTCAGG	0.488000													19	78					3.32936e-07	3.7128e-07	1	1	0
KHDRBS1	10657	broad.mit.edu	37	1	32503563	32503563	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32503563C>G	ENST00000327300.7	+	6	1200	c.1033C>G	c.(1033-1035)Cca>Gca	p.P345A	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.P306A|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	345	Pro-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCTCCAGCACCAAGAGCACG	0.542000													10	108					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80746227	80746227	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:80746227C>G	ENST00000509894.1	+	17	2786	c.1957C>G	c.(1957-1959)Ctg>Gtg	p.L653V	TTK_ENST00000369798.2_Missense_Mutation_p.L654V|TTK_ENST00000230510.3_Missense_Mutation_p.L653V			P33981	TTK_HUMAN	TTK protein kinase	654	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGCTAACTTTCTGATAGTTGA	0.318000													5	59					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42974675	42974675	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:42974675C>T	ENST00000485511.1	+	4	528	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	PPP2R5D_ENST00000461010.1_Silent_p.L11L|PPP2R5D_ENST00000394110.3_Silent_p.L85L|PPP2R5D_ENST00000472118.1_Silent_p.L109L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	117					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.L117L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCGGGAGGAGCTGTTTATCCA	0.562000													24	151					0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64314141	64314141	+	Missense_Mutation	SNP	G	G	C	rs143234808		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:64314141G>C	ENST00000381070.3	+	14	1629	c.1412G>C	c.(1411-1413)aGa>aCa	p.R471T	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	471					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAAAAGAAAGAAGATAAAAT	0.388000													14	44					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148695811	148695811	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:148695811G>C	ENST00000296721.4	+	11	1310	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.K404N	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	404							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGAAGAAGACACTGGCCG	0.612000													5	68					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288742	33288742	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:33288742G>A	ENST00000374542.5	-	3	1014	c.810C>T	c.(808-810)cgC>cgT	p.R270R	DAXX_ENST00000266000.6_Silent_p.R270R|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Silent_p.R195R	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	270					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCCGCTCAATGCGCCTGTTAA	0.597000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								41	59					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866329	39866329	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39866329C>G	ENST00000314471.6	+	7	1742	c.707C>G	c.(706-708)tCc>tGc	p.S236C	SAMD4B_ENST00000596368.1_Missense_Mutation_p.S236C|SAMD4B_ENST00000598913.1_Missense_Mutation_p.S236C	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	236							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGAAGCGCTCCATGTCACTC	0.602000													23	244					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93540715	93540715	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:93540715G>C	ENST00000251871.3	+	10	1785	c.1498G>C	c.(1498-1500)Gag>Cag	p.E500Q	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	500					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTGGAGTTGAGCAGATTCG	0.338000													21	53					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2842542	2842542	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:2842542C>A	ENST00000380445.3	+	10	1063	c.991C>A	c.(991-993)Cca>Aca	p.P331T	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	331					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCATGAGGTTCCAGGTGAGGC	0.612000													7	22					5.18039e-06	5.68126e-06	1	1	0
TIMM50	92609	broad.mit.edu	37	19	39976916	39976916	+	Silent	SNP	G	G	A	rs62120692		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39976916G>A	ENST00000314349.4	+	7	1024	c.891G>A	c.(889-891)acG>acA	p.T297T	TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000544017.1_Silent_p.T81T|TIMM50_ENST00000607714.1_Silent_p.T194T	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	194					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCATCTTTACGTCAGAGACTG	0.552000													31	225					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36722033	36722033	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:36722033C>A	ENST00000399881.3	+	19	2040	c.2003C>A	c.(2002-2004)aCc>aAc	p.T668N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	668						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAACTTCACCACCAGGTAA	0.398000													25	54					7.87624e-14	9.39e-14	1	1	0
PISD	23761	broad.mit.edu	37	22	32044244	32044244	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:32044244G>C	ENST00000439502.2	-	3	387	c.164C>G	c.(163-165)aCt>aGt	p.T55S	PISD_ENST00000336566.4_Missense_Mutation_p.T55S			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	55					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GGCAGGGGCAGTGTGGATTTT	0.527000													5	3					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117866648	117866648	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:117866648C>G	ENST00000297338.2	-	9	1284	c.997G>C	c.(997-999)Gat>Cat	p.D333H		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	333	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GTCTTGCTATCCAACTCTTTG	0.378000													41	88					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78359611	78359611	+	Splice_Site	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:78359611C>G	ENST00000255189.3	-	2	130		c.e2-1		DMGDH_ENST00000520388.1_Intron|DMGDH_ENST00000540686.1_Splice_Site|DMGDH_ENST00000380311.4_Splice_Site	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase						choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTTTCCTCTCTGGAAGAGGG	0.448000													13	54					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32945213	32945213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:32945213C>T	ENST00000544455.1	+	20	8835	c.8608C>T	c.(8608-8610)Cag>Tag	p.Q2870*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Q2870*	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2870					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CACTAAAATTCAGGAGGAATT	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	51					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26702466	26702466	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:26702466C>T	ENST00000272371.2	-	17	2094	c.1968G>A	c.(1966-1968)cgG>cgA	p.R656R	OTOF_ENST00000403946.3_Silent_p.R656R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	656					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGCTCCTTCCGGGGCCGAG	0.627000													8	21					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149433917	149433917	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:149433917G>C	ENST00000286301.3	-	21	3022	c.2731C>G	c.(2731-2733)Cag>Gag	p.Q911E		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	911					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			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)	GCCTGCTCCTGAAGGAAGGAG	0.622000													19	35					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53673530	53673530	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:53673530G>A	ENST00000257934.4	+	12	2470	c.2379G>A	c.(2377-2379)ctG>ctA	p.L793L	ESPL1_ENST00000552462.1_Silent_p.L793L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	793					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGCAGGCTCTGGAGGTCCTCC	0.597000													38	87					0	0	1	0	0
VEGFB	7423	broad.mit.edu	37	11	64004936	64004936	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:64004936G>A	ENST00000309422.2	+	6	751	c.455G>A	c.(454-456)gGc>gAc	p.G152D	VEGFB_ENST00000426086.2_Intron	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	152					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TCTGTTCCGGGCTGGGACTCT	0.682000													5	24					0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35723369	35723369	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:35723369G>A	ENST00000382034.5	+	8	895	c.553G>A	c.(553-555)Gag>Aag	p.E185K	TOM1_ENST00000449058.2_Missense_Mutation_p.E252K|TOM1_ENST00000436462.2_Missense_Mutation_p.E214K|TOM1_ENST00000425375.1_Missense_Mutation_p.E207K|TOM1_ENST00000411850.1_Missense_Mutation_p.E252K|TOM1_ENST00000447733.1_Missense_Mutation_p.E219K			O60784	TOM1_HUMAN	target of myb1 (chicken)	252					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CGCAGACCTGGAGCTGCTGCA	0.622000													3	22					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180661586	180661586	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:180661586G>A	ENST00000315073.5	+	6	2414	c.1704G>A	c.(1702-1704)acG>acA	p.T568T	TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	568	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAACAGACGCTGCTGAGCC	0.632000													5	58					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812892	45812892	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:45812892G>C	ENST00000358525.4	-	6	867	c.752C>G	c.(751-753)tCa>tGa	p.S251*	SLC6A20_ENST00000456124.2_Nonsense_Mutation_p.S251*|SLC6A20_ENST00000353278.4_Nonsense_Mutation_p.S214*	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	251					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAGGCCAAGTGAGAAGAAGAT	0.587000													11	30					0	0	1	0	0
DNASE2B	58511	broad.mit.edu	37	1	84880418	84880418	+	Missense_Mutation	SNP	G	G	A	rs146223730		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:84880418G>A	ENST00000370665.3	+	6	986	c.953G>A	c.(952-954)cGc>cAc	p.R318H	DNASE2B_ENST00000370662.3_Missense_Mutation_p.R110H	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	318					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		ACCAAAAATCGCTGGACATGT	0.388000													11	34					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106124975	106124975	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:106124975G>C	ENST00000329625.5	+	3	287	c.9G>C	c.(7-9)caG>caC	p.Q3H	DAOA_ENST00000375936.3_Missense_Mutation_p.Q74H|DAOA-AS1_ENST00000448407.1_RNA			P59103	DAOA_HUMAN	D-amino acid oxidase activator	74						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AAATGGCACAGAGGCATTTAC	0.428000													6	39					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81648681	81648681	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:81648681G>T	ENST00000548058.1	+	16	2951	c.2041G>T	c.(2041-2043)Gaa>Taa	p.E681*	ACSS3_ENST00000548324.1_Nonsense_Mutation_p.E363*|ACSS3_ENST00000261206.3_Nonsense_Mutation_p.E680*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	681						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCACGTAGAAGAAATGCTGAA	0.308000													9	65					1.12685e-05	1.22564e-05	1	1	0
MRTO4	51154	broad.mit.edu	37	1	19584361	19584361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:19584361C>T	ENST00000330263.4	+	6	673	c.376C>T	c.(376-378)Cga>Tga	p.R126*		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	126					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTACGCCCGAGCTGGTAA	0.587000													19	99					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			15	52					0	0	1	0	0
STRBP	55342	broad.mit.edu	37	9	125898437	125898437	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:125898437G>C	ENST00000447404.2	-	15	1960	c.1656C>G	c.(1654-1656)ttC>ttG	p.F552L	STRBP_ENST00000348403.5_Missense_Mutation_p.F552L|STRBP_ENST00000360998.3_Missense_Mutation_p.F538L			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	552	DRBM 2.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CTGCGCCTCTGAATTTCTGTC	0.393000													10	71					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50854654	50854654	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:50854654C>G	ENST00000395562.2	+	9	1438	c.969C>G	c.(967-969)ctC>ctG	p.L323L	CHAT_ENST00000395559.2_Silent_p.L287L|CHAT_ENST00000339797.1_Silent_p.L287L|CHAT_ENST00000455728.2_Silent_p.L287L|CHAT_ENST00000351556.3_Silent_p.L287L|CHAT_ENST00000337653.2_Silent_p.L405L	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	405					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACAGGGCACTCCAGCTCCTTC	0.637000													14	43					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131475651	131475651	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:131475651C>T	ENST00000291906.4	+	8	1470	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	359					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGACCTTTGTCATCCCACTGG	0.652000													8	31					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44571048	44571048	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:44571048C>T	ENST00000591793.1	+	7	1480	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	ZNF223_ENST00000434772.3_Missense_Mutation_p.S356F			Q9UK11	ZN223_HUMAN	zinc finger protein 223	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TTCAGACGGTCCTCCTATCTT	0.438000													7	139					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298848	125298848	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:125298848G>C	ENST00000538699.1	-	2	1140	c.1060C>G	c.(1060-1062)Cgg>Ggg	p.R354G	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R354G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	354										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCAGCGACCGCACGCCTGTG	0.637000													9	40					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178427347	178427347	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:178427347G>T	ENST00000448150.3	+	14	3705	c.2887G>T	c.(2887-2889)Gat>Tat	p.D963Y	RASAL2_ENST00000367649.3_Missense_Mutation_p.D974Y|RASAL2_ENST00000462775.1_Missense_Mutation_p.D833Y	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	833					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGCATGGAAGATTTCACTAA	0.478000													13	89					0.0931896	0.0946196	1	1	0
FH	2271	broad.mit.edu	37	1	241665791	241665791	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:241665791G>T	ENST00000366560.3	-	8	1226	c.1188C>A	c.(1186-1188)gtC>gtA	p.V396V		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	396					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TGCTGCCTCCGACAGTGACAG	0.413000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				15	60					2.32078e-09	2.67058e-09	1	1	0
VCAN	1462	broad.mit.edu	37	5	82835422	82835422	+	Silent	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:82835422T>A	ENST00000265077.3	+	8	7165	c.6600T>A	c.(6598-6600)acT>acA	p.T2200T	VCAN_ENST00000343200.5_Silent_p.T1213T|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2200	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTGAAGCTACTGAAAAGTCAC	0.368000													17	90					0	0	1	0	0
FAM167B	84734	broad.mit.edu	37	1	32713099	32713099	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32713099C>T	ENST00000373582.3	+	1	266	c.77C>T	c.(76-78)tCt>tTt	p.S26F		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	26										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						AGCCTGGACTCTGTGAAGGCA	0.622000													15	30					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110881615	110881615	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:110881615G>C	ENST00000316534.4	-	20	2028	c.1955C>G	c.(1954-1956)aCg>aGg	p.T652R	NPHP1_ENST00000355301.4_Missense_Mutation_p.T533R|NPHP1_ENST00000417665.1_Missense_Mutation_p.T630R|NPHP1_ENST00000445609.2_Missense_Mutation_p.T596R|NPHP1_ENST00000393272.3_Missense_Mutation_p.T651R			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	651					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CAGGAGAAACGTGGACTTCAG	0.458000													7	85					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168216	36168216	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:36168216G>A	ENST00000357641.6	+	2	370	c.117G>A	c.(115-117)cgG>cgA	p.R39R	BRPF3_ENST00000339717.7_Silent_p.R39R|BRPF3_ENST00000543502.1_Silent_p.R39R|BRPF3_ENST00000534694.1_Silent_p.R39R|BRPF3_ENST00000443324.2_Silent_p.R39R|BRPF3_ENST00000534400.1_Silent_p.R39R	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	39					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGGCCCAGCGGATTGTCGAGG	0.572000													4	65					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88643559	88643559	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:88643559G>C	ENST00000301011.5	+	2	228	c.28G>C	c.(28-30)Gat>Cat	p.D10H	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D10H	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	10						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCTGAACGGGATCCTCACTC	0.547000													7	42					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32261017	32261017	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:32261017G>A	ENST00000375015.4	-	26	1630	c.1430C>T	c.(1429-1431)tCa>tTa	p.S477L	C6orf10_ENST00000375007.4_Missense_Mutation_p.S476L|C6orf10_ENST00000447241.2_Missense_Mutation_p.S478L|C6orf10_ENST00000527965.1_Missense_Mutation_p.S462L|C6orf10_ENST00000533191.1_Missense_Mutation_p.S476L|C6orf10_ENST00000442822.2_Intron			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	478	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TAGTACACCTGACTCACTCTT	0.418000													18	179					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79846256	79846256	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:79846256C>G	ENST00000331204.4	-	5	646	c.620G>C	c.(619-621)gGa>gCa	p.G207A	ALYREF_ENST00000505490.2_Missense_Mutation_p.G214A	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	207	Ala/Arg/Gly-rich.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										ACCAAAACCTCCAGCGCCACG	0.612000													8	15					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095532	178095532	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:178095532G>C	ENST00000397062.3	-	5	2353	c.1799C>G	c.(1798-1800)cCa>cGa	p.P600R	NFE2L2_ENST00000397063.4_Missense_Mutation_p.P584R|NFE2L2_ENST00000446151.2_Missense_Mutation_p.P577R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.P584R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	600					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTAACATCTGGCTTCTTACT	0.368000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			10	97					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24663374	24663374	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:24663374G>C	ENST00000222644.5	+	2	338	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	MPP6_ENST00000396475.2_Missense_Mutation_p.E30Q|MPP6_ENST00000409761.1_Intron			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GGGAATTATGGAGAATCCTAT	0.343000													7	36					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30419638	30419638	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:30419638C>T	ENST00000375994.2	+	10	1830	c.1557C>T	c.(1555-1557)aaC>aaT	p.N519N	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Silent_p.N519N			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	519	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGTCTCCAACCTCATCGTCA	0.517000													7	75					0	0	1	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67514921	67514921	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:67514921C>T	ENST00000290949.3	-	1	219	c.69G>A	c.(67-69)ctG>ctA	p.L23L	ATP6V0D1_ENST00000540149.1_Silent_p.L23L	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	23					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCCCGGCCTTCAGGCCGCGCA	0.652000													15	44					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923348	159923348	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:159923348C>T	ENST00000368093.3	-	2	258	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	SLAMF9_ENST00000368092.3_Missense_Mutation_p.E48K	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	48						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAACCTCTTCATCTGGTGGT	0.532000													9	83					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38153448	38153448	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:38153448C>G	ENST00000379747.4	-	13	1826	c.1709G>C	c.(1708-1710)gGa>gCa	p.G570A	POSTN_ENST00000541179.1_Missense_Mutation_p.G570A|POSTN_ENST00000379743.4_Missense_Mutation_p.G570A|POSTN_ENST00000541481.1_Missense_Mutation_p.G570A|POSTN_ENST00000379749.4_Missense_Mutation_p.G570A|POSTN_ENST00000379742.4_Missense_Mutation_p.G570A	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	570	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AATGAAAACTCCTGGTGTCAG	0.318000													14	74					0	0	1	0	0
PPP1R8	5511	broad.mit.edu	37	1	28176864	28176864	+	Silent	SNP	C	C	G	rs144281839	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:28176864C>G	ENST00000373931.4	+	7	1332	c.537C>G	c.(535-537)gtC>gtG	p.V179V	PPP1R8_ENST00000236412.7_Silent_p.V97V|PPP1R8_ENST00000486634.1_3'UTR|PPP1R8_ENST00000311772.5_Silent_p.V321V	NM_138558.2	NP_612568.1	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	321	Interaction with EED.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTGCAGTCTATAACCCTG	0.488000													9	85					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50311844	50311844	+	RNA	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:50311844C>A	ENST00000418948.1	+	0	1422							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACTTCCCAGACGATGTCATCC	0.572000											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	76					1.9806e-07	2.22747e-07	1	1	0
SEMA3F	6405	broad.mit.edu	37	3	50197151	50197151	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:50197151C>T	ENST00000002829.3	+	2	580	c.96C>T	c.(94-96)gtC>gtT	p.V32V	SEMA3F_ENST00000434342.1_Silent_p.V32V|SEMA3F_ENST00000413852.1_5'UTR	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	32	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CGCCCCGGGTCCGGCTCTCAT	0.587000													5	22					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2939525	2939525	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr18:2939525C>T	ENST00000261596.4	-	6	1013	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	259					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATGTGAGACTCTGATCTGAGC	0.512000													41	36					0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71058238	71058238	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:71058238T>C	ENST00000410009.3	-	6	975	c.930A>G	c.(928-930)ccA>ccG	p.P310P		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	310	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTTTGTCACATGGGGCATCAT	0.493000													6	38					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75018986	75018986	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:75018986C>G	ENST00000261978.4	-	6	1689	c.1303G>C	c.(1303-1305)Gac>Cac	p.D435H	LTBP2_ENST00000556690.1_Missense_Mutation_p.D435H|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	435					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCTCCCTGTCCGGCTGCGGG	0.672000													4	51					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14399063	14399063	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:14399063T>G	ENST00000344204.4	+	30	4522	c.4498T>G	c.(4498-4500)Tta>Gta	p.L1500V	TRIO_ENST00000509967.2_Missense_Mutation_p.L1451V|TRIO_ENST00000537187.1_Missense_Mutation_p.L1500V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1500	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCAAAAACCTTAATTCGAAA	0.408000													17	68					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21693375	21693375	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:21693375G>A	ENST00000261195.2	-	14	2032	c.1778C>T	c.(1777-1779)tCa>tTa	p.S593L		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	593					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAGAAGATCTGAGAGCCTCTC	0.403000													26	160					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205290642	205290642	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:205290642C>A	ENST00000367157.3	-	1	241	c.115G>T	c.(115-117)Gcg>Tcg	p.A39S		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	39					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGCTTCACCGCCTGCTTCTTC	0.667000													4	19					0.00909568	0.00935488	1	1	0
CDC37L1	55664	broad.mit.edu	37	9	4679834	4679834	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:4679834G>C	ENST00000381854.3	+	1	269	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Missense_Mutation_p.E23Q	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	23	Self-association.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		GGCTGAGGAAGAGAGTGACTT	0.697000											OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613062	179613062	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179613062C>T	ENST00000360870.5	-	46	14287	c.14065G>A	c.(14065-14067)Gag>Aag	p.E4689K	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	804	Ig-like 27.						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)			CTACTTTTCTCCACCATAGTT	0.318000													47	63					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41203122	41203122	+	Missense_Mutation	SNP	G	G	T	rs80357886		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41203122G>T	ENST00000309486.4	-	19	5429	c.4402C>A	c.(4402-4404)Cta>Ata	p.L1468I	BRCA1_ENST00000357654.3_Missense_Mutation_p.L1764I|BRCA1_ENST00000351666.3_Missense_Mutation_p.L581I|BRCA1_ENST00000586385.1_Missense_Mutation_p.L74I|BRCA1_ENST00000493795.1_Missense_Mutation_p.L1717I|BRCA1_ENST00000354071.3_Missense_Mutation_p.L1499I|BRCA1_ENST00000346315.3_Missense_Mutation_p.L1525I|BRCA1_ENST00000591534.1_Missense_Mutation_p.L255I|BRCA1_ENST00000352993.3_Missense_Mutation_p.L622I|BRCA1_ENST00000471181.2_Missense_Mutation_p.L1785I|BRCA1_ENST00000468300.1_Missense_Mutation_p.L660I|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.L660I	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1764					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAGATTTCTAGCCCCCTGAAG	0.463000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			8	40					0.00307968	0.00322594	1	1	0
ECHDC3	79746	broad.mit.edu	37	10	11789413	11789413	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:11789413A>C	ENST00000379215.4	+	2	447	c.236A>C	c.(235-237)cAa>cCa	p.Q79P	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	79						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						AAGTCTCTCCAAAGTGACATT	0.438000													17	99					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498743	73498743	+	Silent	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:73498743A>T	ENST00000321617.3	-	18	2998	c.2412T>A	c.(2410-2412)ccT>ccA	p.P804P	CASKIN2_ENST00000433559.2_Silent_p.P722P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	804	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTGGGGCCAGGGCGGCTTA	0.711000													3	6					0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49493030	49493030	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:49493030C>G	ENST00000371608.2	+	5	497	c.497C>G	c.(496-498)cCt>cGt	p.P166R	BCAS4_ENST00000358791.5_Silent_p.T198T|BCAS4_ENST00000609336.1_Silent_p.T168T|BCAS4_ENST00000262591.5_Missense_Mutation_p.P121R	NM_198799.2	NP_942094.2	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	0						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CAGAAGTCACCTGCACCGGTG	0.557000													16	107					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135884205	135884205	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:135884205G>A	ENST00000264158.8	+	11	995	c.952G>A	c.(952-954)Gag>Aag	p.E318K	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.E274K|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.E318K	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	318						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCGAAAAGCTGAGAATCCTCA	0.368000													33	80					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10858095	10858095	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:10858095G>A	ENST00000254488.2	+	1	211	c.145G>A	c.(145-147)Gag>Aag	p.E49K	SLC6A11_ENST00000454147.1_Missense_Mutation_p.E49K	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	49					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGCGGTCCACGAGCGCGGCCA	0.716000													3	13					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36301437	36301437	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:36301437G>C	ENST00000373210.3	+	13	1812	c.1567G>C	c.(1567-1569)Gag>Cag	p.E523Q		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		ttttGTAGCGGAGGTGAAACG	0.363000													6	38					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155500249	155500249	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:155500249C>T	ENST00000461783.3	+	13	3873	c.2600C>T	c.(2599-2601)cCt>cTt	p.P867L	TIAM2_ENST00000360366.4_Missense_Mutation_p.P891L|TIAM2_ENST00000318981.5_Missense_Mutation_p.P867L|TIAM2_ENST00000367174.2_Missense_Mutation_p.P243L|TIAM2_ENST00000529824.2_Missense_Mutation_p.P867L|TIAM2_ENST00000528391.2_Missense_Mutation_p.P203L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P867L|TIAM2_ENST00000456877.2_Missense_Mutation_p.P179L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	867	RBD.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TATTGCATCCCTGCACCATAT	0.388000													15	51					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133537	177133537	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:177133537G>A	ENST00000367654.3	-	1	487	c.276C>T	c.(274-276)ttC>ttT	p.F92F	ASTN1_ENST00000424564.2_Silent_p.F92F|ASTN1_ENST00000367657.3_Silent_p.F92F|ASTN1_ENST00000361833.2_Silent_p.F92F|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane		p.F92F(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACCCAGCACGAAGTAGGGCA	0.692000													4	15					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51289655	51289655	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:51289655G>A	ENST00000261842.5	+	18	2585	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	AP4E1_ENST00000560508.1_Missense_Mutation_p.E752K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	827					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGTGGCATATGAAGATGATTA	0.353000													9	55					0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185113039	185113039	+	Splice_Site	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:185113039G>C	ENST00000367504.3	-	6	1049	c.310C>G	c.(310-312)Cgg>Ggg	p.R104G	TRMT1L_ENST00000367506.5_Splice_Site_p.R260G			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	260						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTATCTTACCGATTTAGTTTC	0.303000													8	34					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32740790	32740790	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:32740790C>G	ENST00000421745.2	+	55	11436	c.11302C>G	c.(11302-11304)Cta>Gta	p.L3768V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3768					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)					TGCGTTCTTTCTACAGTGCAT	0.393000													16	35					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133948082	133948082	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:133948082G>A	ENST00000220616.4	+	25	5054	c.5014G>A	c.(5014-5016)Gat>Aat	p.D1672N	TG_ENST00000377869.1_Missense_Mutation_p.D1615N|TG_ENST00000542445.1_Missense_Mutation_p.D106N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1672					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCATGGTCAAGATTCTCCAGC	0.527000													8	34					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83861316	83861316	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:83861316C>A	ENST00000349129.2	+	28	6102	c.5842C>A	c.(5842-5844)Ctg>Atg	p.L1948M	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.L1939M|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L1894M	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1948					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTTTAGGGTTCTGAATGAGTT	0.378000													3	19					0.115264	0.116437	1	1	0
VTI1B	10490	broad.mit.edu	37	14	68129250	68129250	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:68129250C>T	ENST00000554659.1	-	2	459	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	RP11-1012A1.4_ENST00000553306.1_3'UTR|RP11-1012A1.4_ENST00000554493.1_5'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	40					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TTCTTCTTTTCTTCTAGAAAA	0.378000													6	35					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21992472	21992472	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:21992472C>T	ENST00000594012.1	-	7	863	c.349G>A	c.(349-351)Gag>Aag	p.E117K	ZNF43_ENST00000354959.4_Missense_Mutation_p.E123K|ZNF43_ENST00000595461.1_Missense_Mutation_p.E117K|ZNF43_ENST00000598381.1_Missense_Mutation_p.E117K	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	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		ACCTTACACTCATCCACACTT	0.338000													6	110					0	0	1	0	0
DUT	1854	broad.mit.edu	37	15	48626677	48626677	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:48626677G>A	ENST00000331200.3	+	3	576	c.483G>A	c.(481-483)gcG>gcA	p.A161A	DUT_ENST00000561350.1_3'UTR|DUT_ENST00000455976.2_Silent_p.A73A|DUT_ENST00000559540.1_Silent_p.A73A|DUT_ENST00000558813.1_Silent_p.A50A|DUT_ENST00000559935.1_Silent_p.A76A|DUT_ENST00000559416.1_Silent_p.A76A	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	161					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		TTCAGATAGCGCTCCCTTCTG	0.363000								Modulation of nucleotide pools					6	39					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459597	122459597	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:122459597C>A	ENST00000306103.2	-	8	1205	c.1062G>T	c.(1060-1062)atG>atT	p.M354I	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	354						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CTTCCTTTTTCATGTGCTCTC	0.458000													17	236					1.33834e-09	1.54453e-09	1	1	0
NKAIN2	154215	broad.mit.edu	37	6	124979332	124979332	+	Splice_Site	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:124979332G>C	ENST00000368417.1	+	4	334	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	NKAIN2_ENST00000368416.1_Splice_Site_p.E92Q|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Splice_Site_p.E77Q	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	92		Breakpoint for interstitial deletion to form SUSP1-NKAIN2.				integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CTTCTTGCAGGAAACAGACCT	0.428000													8	38					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098555	38098555	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:38098555C>T	ENST00000290399.6	+	6	1292	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	SIM2_ENST00000430056.3_Silent_p.L227L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	227	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CGAGATCAAGCTGTACAGTAA	0.567000													7	40					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75190013	75190013	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:75190013C>T	ENST00000352410.4	+	8	1281	c.1214C>T	c.(1213-1215)tCa>tTa	p.S405L	MPI_ENST00000323744.6_Missense_Mutation_p.S344L|MPI_ENST00000566377.1_3'UTR|MPI_ENST00000563786.1_Missense_Mutation_p.S385L|MPI_ENST00000535694.1_Missense_Mutation_p.S355L			P34949	MPI_HUMAN	mannose phosphate isomerase	405					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GAGAGTGTCTCACTGAAGCTT	0.562000													4	46					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86273898	86273898	+	Silent	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:86273898T>A	ENST00000394518.2	+	30	7337	c.7242T>A	c.(7240-7242)gcT>gcA	p.A2414A	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.A2418A|AKAP13_ENST00000394510.2_Silent_p.A659A	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2414	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAGAAGAGGCTCTCAAAGGAG	0.478000											OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	73					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63010911	63010911	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:63010911T>C	ENST00000439174.2	-	4	843	c.598A>G	c.(598-600)Aga>Gga	p.R200G	GNA13_ENST00000541118.1_Missense_Mutation_p.R105G	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	200					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTGGGTCTTCTGGCAAGCAGA	0.353000													19	49					0	0	1	0	0
GLTPD1	80772	broad.mit.edu	37	1	1262843	1262843	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:1262843G>A	ENST00000343938.4	+	3	756	c.345G>A	c.(343-345)ctG>ctA	p.L115L	GLTPD1_ENST00000464957.1_3'UTR	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	115						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCGCGCCCTGCACTGGCTGC	0.726000													3	10					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32841467	32841467	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:32841467A>C	ENST00000380250.3	+	55	8603	c.8107A>C	c.(8107-8109)Aca>Cca	p.T2703P	FRY_ENST00000542859.1_Missense_Mutation_p.T73P	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCTGTGTATACATTTCATGT	0.512000													8	58					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963856	66963856	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:66963856G>C	ENST00000276570.5	+	3	361	c.74G>C	c.(73-75)gGt>gCt	p.G25A	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	25	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GAAATTCTTGGTCTGCATAAG	0.398000													14	78					0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29966393	29966393	+	Splice_Site	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:29966393C>A	ENST00000216121.7	-	2	481		c.e2+1			NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)									p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						CAGCCACTCACACTGGATCTT	0.567000													7	36					0.000157383	0.00016796	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49444981	49444981	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:49444981C>G	ENST00000301067.7	-	10	2484	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGTGATTCCTCAGGTTGGGGG	0.632000													11	49					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49666126	49666126	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:49666126G>A	ENST00000339139.4	-	7	602	c.366C>T	c.(364-366)gtC>gtT	p.V122V		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	122						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTACACCATAGACAAAATCTA	0.413000													11	69					0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47773894	47773894	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:47773894G>C	ENST00000221922.6	+	10	1256	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	345	Poly-Arg.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCAGCCGCAGAAGGAGAAAG	0.672000													5	49					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843555	137843555	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:137843555T>A	ENST00000236709.3	-	3	775	c.574A>T	c.(574-576)Aat>Tat	p.N192Y		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	192					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AATATTCCATTACTAGAGTAC	0.498000													8	89					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89391184	89391184	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:89391184G>A	ENST00000439576.2	+	9	2021	c.1647G>A	c.(1645-1647)aaG>aaA	p.K549K	ACAN_ENST00000561243.1_Silent_p.K549K|ACAN_ENST00000558207.1_Silent_p.K549K|ACAN_ENST00000352105.7_Silent_p.K549K|ACAN_ENST00000559004.1_Silent_p.K549K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	549					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGGTGACAAGGACAGCAGCC	0.572000													9	72					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335683	57335683	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:57335683C>G	ENST00000326441.9	-	4	704	c.341G>C	c.(340-342)tGt>tCt	p.C114S	PEG3_ENST00000423103.2_Missense_Mutation_p.C114S|PEG3_ENST00000593695.1_5'UTR|PEG3_ENST00000598410.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000593711.1_5'UTR|ZIM2_ENST00000391708.3_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	114	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGCTTCTCACAGTTCTCCGG	0.532000													7	94					0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239234477	239234477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:239234477C>T	ENST00000373327.4	+	3	442	c.220C>T	c.(220-222)Caa>Taa	p.Q74*	TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.Q74*|TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.Q74*	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	74	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		TAGCTTCCTACAAAAGGCCAT	0.423000													12	53					0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98828982	98828982	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:98828982C>T	ENST00000267291.6	-	1	537	c.509G>A	c.(508-510)gGg>gAg	p.G170E	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	170							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCTCGCCATCCCCGAGGAGGA	0.632000													7	30					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120790295	120790295	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:120790295T>C	ENST00000378164.2	-	18	2626	c.2328A>G	c.(2326-2328)ttA>ttG	p.L776L		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	776					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGATTAAGTCTAAAATAAATG	0.264000													5	20					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111779715	111779715	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:111779715G>T	ENST00000261726.6	+	21	3671	c.3517G>T	c.(3517-3519)Gtg>Ttg	p.V1173L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1173						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAGCCCCGGGTGGTGCTGGC	0.662000													12	58					5.16669e-11	6.01517e-11	1	1	0
TTI1	9675	broad.mit.edu	37	20	36641207	36641207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:36641207C>A	ENST00000373448.2	-	3	1250	c.1012G>T	c.(1012-1014)Gga>Tga	p.G338*	TTI1_ENST00000449821.1_Nonsense_Mutation_p.G338*|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Nonsense_Mutation_p.G338*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	338							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTTACTAGTCCCACTAAGGCC	0.468000													28	170					4.22769e-11	4.95102e-11	1	1	0
BCL9	607	broad.mit.edu	37	1	147090920	147090920	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:147090920G>A	ENST00000234739.3	+	8	1699	c.959G>A	c.(958-960)gGg>gAg	p.G320E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	320	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GTCTCCCAGGGGAGCAATAGC	0.607000			T	"""IGH@, IGL@"""	B-ALL								7	93					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414501	138414501	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:138414501G>T	ENST00000409968.1	+	23	4419	c.4241G>T	c.(4240-4242)aGc>aTc	p.S1414I	THSD7B_ENST00000272643.3_Missense_Mutation_p.S1417I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S1386I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACCAAGACAGCTGCCCCCAA	0.433000													21	91					3.83957e-06	4.22246e-06	1	1	0
C17orf77	146723	broad.mit.edu	37	17	72588357	72588357	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:72588357C>A	ENST00000392620.1	+	3	534	c.172C>A	c.(172-174)Cct>Act	p.P58T	CD300LD_ENST00000375352.1_5'UTR|C17orf77_ENST00000328023.2_Missense_Mutation_p.P58T	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	58						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGTCTCCTCTCCTCTCCTTGG	0.547000													11	52					2.35188e-11	2.77061e-11	1	1	0
CCL27	10850	broad.mit.edu	37	9	34662358	34662358	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:34662358G>C	ENST00000259631.4	-	2	184	c.126C>G	c.(124-126)ctC>ctG	p.L42L	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	42					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCTTGTCTGAGAGTGGCTTTC	0.577000													9	27					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23904689	23904689	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:23904689G>T	ENST00000382298.3	-	10	13914	c.13326C>A	c.(13324-13326)ggC>ggA	p.G4442G	SACS_ENST00000382292.3_Silent_p.G4442G|SACS_ENST00000402364.1_Silent_p.G3692G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4442					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCACTGGATTGCCAACCGACT	0.468000													29	112					3.90053e-15	4.66418e-15	1	1	0
MFRP	83552	broad.mit.edu	37	11	119216324	119216324	+	Silent	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:119216324A>C	ENST00000555262.1	-	5	606	c.447T>G	c.(445-447)tcT>tcG	p.S149S	MFRP_ENST00000529147.1_5'UTR|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000530681.1_Silent_p.S149S|MFRP_ENST00000360167.4_Silent_p.S149S|MFRP_ENST00000449574.2_Silent_p.S149S	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCCTTGGGCCAGAGAGGAGGC	0.572000													8	45					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52400859	52400859	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:52400859G>T	ENST00000420323.2	+	36	5982	c.5721G>T	c.(5719-5721)acG>acT	p.T1907T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1907	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGTCCATCACGATGGGCCAGC	0.607000													9	59					5.16669e-11	6.01517e-11	1	1	0
ATXN3	4287	broad.mit.edu	37	14	92537344	92537344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:92537344G>T	ENST00000545170.1	-	10	1021	c.953C>A	c.(952-954)tCa>tAa	p.S318*	ATXN3_ENST00000502250.1_Nonsense_Mutation_p.S130*|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000503767.1_Nonsense_Mutation_p.S294*|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.S302*|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.S309*|ATXN3_ENST00000532032.1_Nonsense_Mutation_p.S309*|ATXN3_ENST00000340660.6_Nonsense_Mutation_p.S254*	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	309					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ACTCTGTCCTGATAGGTCCCC	0.468000													32	39					2.47511e-08	2.82361e-08	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922473	24922473	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:24922473G>T	ENST00000329468.2	+	1	1933	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTATAATTCAGTCGTAGGAGC	0.507000													21	167					8.34094e-07	9.27549e-07	1	1	0
MRM1	79922	broad.mit.edu	37	17	34958603	34958603	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:34958603G>C	ENST00000250156.7	+	1	603	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	MRM1_ENST00000585770.1_5'UTR	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	122					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGTCTGCATGGAGGTGAGCCC	0.682000													3	35					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104189883	104189883	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:104189883C>A	ENST00000374855.4	-	5	545	c.421G>T	c.(421-423)Gat>Tat	p.D141Y	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	141					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCAACACCATCTTTCTTGTAC	0.537000													4	54					0.150653	0.151801	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48312668	48312668	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:48312668C>A	ENST00000435803.1	+	17	3429	c.3405C>A	c.(3403-3405)gtC>gtA	p.V1135V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1135					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGCAAATGTCAGTGTGTTCA	0.353000													12	27					1.08611e-07	1.22496e-07	1	1	0
PRR14	78994	broad.mit.edu	37	16	30665636	30665636	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:30665636G>C	ENST00000542965.2	+	6	1090	c.634G>C	c.(634-636)Gac>Cac	p.D212H	PRR14_ENST00000300835.4_Missense_Mutation_p.D212H			Q9BWN1	PRR14_HUMAN	proline rich 14	212	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TCTGCCTGCAGACCCTCTGGA	0.577000													40	128					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214185050	214185050	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:214185050G>A	ENST00000366958.4	+	4	2628	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	PROX1_ENST00000435016.1_Missense_Mutation_p.D674N|PROX1_ENST00000498508.2_Missense_Mutation_p.D674N|PROX1_ENST00000261454.4_Missense_Mutation_p.D674N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	674	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TAAAGCAAATGACTTTGAGGT	0.368000													46	60					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186335076	186335076	+	Silent	SNP	C	C	T	rs78152999	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:186335076C>T	ENST00000411641.2	+	4	729	c.510C>T	c.(508-510)gcC>gcT	p.A170A	AHSG_ENST00000273784.5_Silent_p.A171A			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	170	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCCTGGCCGCCTTCAACGCTC	0.592000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	83					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51950240	51950240	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:51950240C>G	ENST00000311234.4	-	13	2145	c.1673G>C	c.(1672-1674)aGa>aCa	p.R558T	INTS6_ENST00000490542.1_Missense_Mutation_p.R242T|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.R380T|INTS6_ENST00000398119.2_Missense_Mutation_p.R545T|INTS6_ENST00000425000.1_Missense_Mutation_p.R126T	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	558					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGATCTCATTCTTGTTAAGTG	0.323000													13	28					0	0	1	0	0
PEX19	5824	broad.mit.edu	37	1	160253381	160253381	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160253381G>A	ENST00000368072.5	-	2	140	c.119C>T	c.(118-120)tCt>tTt	p.S40F	PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000608310.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTGGTGGTAGAAGGGGGTGC	0.547000													11	40					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203188877	203188877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:203188877G>T	ENST00000367229.1	-	8	864	c.830C>A	c.(829-831)tCa>tAa	p.S277*	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.S258*|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.S268*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	277					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCTGGTGTCTGATGAGGAGGC	0.597000													11	54					0.000673444	0.000707294	1	1	0
MCF2L2	23101	broad.mit.edu	37	3	183029466	183029466	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:183029466T>A	ENST00000328913.3	-	8	1145	c.848A>T	c.(847-849)aAc>aTc	p.N283I	MCF2L2_ENST00000447025.2_Missense_Mutation_p.N283I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.N283I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.N283I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	283					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTCAAGTTGGTTGAGATTGAG	0.438000													35	72					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373000													4	24					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36301505	36301505	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:36301505G>A	ENST00000373210.3	+	13	1880	c.1635G>A	c.(1633-1635)gtG>gtA	p.V545V		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		AAAATGTAGTGAAGACCTCAC	0.388000													9	67					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179323266	179323266	+	Silent	SNP	G	G	A	rs138967124	by1000genomes	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179323266G>A	ENST00000409117.3	+	5	935	c.579G>A	c.(577-579)aaG>aaA	p.K193K	DFNB59_ENST00000605419.1_3'UTR|DFNB59_ENST00000375129.4_Silent_p.K193K	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	193					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGAATCCCAAGGGAAGGGACA	0.353000													9	81					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339266	19339266	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:19339266C>G	ENST00000252575.6	+	8	2936	c.2837C>G	c.(2836-2838)tCa>tGa	p.S946*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.S397*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCAGTTTCCTCAGGGGAGCCT	0.647000													16	131					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67412565	67412565	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:67412565C>G	ENST00000255082.3	-	6	755	c.585G>C	c.(583-585)atG>atC	p.M195I	ACY3_ENST00000529256.1_Missense_Mutation_p.M74I	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	195					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CCAGGGTCCTCATCCTTGAGA	0.612000													32	98					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112308496	112308496	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:112308496C>G	ENST00000475700.1	+	3	2632	c.274C>G	c.(274-276)Caa>Gaa	p.Q92E	DDX20_ENST00000369702.4_Missense_Mutation_p.Q484E			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	484					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAACCCTTCAAATTCAGAA	0.368000													10	78					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407718	38407718	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:38407718G>C	ENST00000361085.5	+	7	1984	c.1639G>C	c.(1639-1641)Ggg>Cgg	p.G547R	ZNF37A_ENST00000351773.3_Missense_Mutation_p.G547R	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATACACTTGGGGAGAAACCC	0.363000													9	38					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18393456	18393456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:18393456C>A	ENST00000440756.2	-	16	3049	c.2947G>T	c.(2947-2949)Gaa>Taa	p.E983*	PSD3_ENST00000428502.2_Nonsense_Mutation_p.E310*|PSD3_ENST00000327040.8_Nonsense_Mutation_p.E981*|PSD3_ENST00000523619.1_Nonsense_Mutation_p.E916*|PSD3_ENST00000286485.8_Nonsense_Mutation_p.E447*			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	982					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACATACATTTCATAGCGGGTT	0.483000													10	38					0.000673444	0.000707294	1	1	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000													3	25					1	1	1	1	0
SELENBP1	8991	broad.mit.edu	37	1	151337485	151337485	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:151337485C>G	ENST00000426705.2	-	11	1443	c.1299G>C	c.(1297-1299)caG>caC	p.Q433H	SELENBP1_ENST00000368868.5_Missense_Mutation_p.Q391H|SELENBP1_ENST00000435071.1_Missense_Mutation_p.Q327H|SELENBP1_ENST00000447402.3_Missense_Mutation_p.Q329H	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	391					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGGCTGAGCTGGATCATCT	0.567000													3	7					0	0	1	0	0
IL13RA1	3597	broad.mit.edu	37	X	117892057	117892057	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:117892057C>T	ENST00000371666.3	+	5	595	c.528C>T	c.(526-528)atC>atT	p.I176I	IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Silent_p.I176I	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	176						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GTGAAAACATCTTTAGAGAAG	0.348000													18	46					0	0	1	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149785202	149785202	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:149785202G>T	ENST00000331491.1	-	1	34	c.35C>A	c.(34-36)aCc>aAc	p.T12N		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	12					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CTTGCCGCCGGTCGACTTGCG	0.627000													4	40					0.184627	0.185094	1	1	0
UCKL1	54963	broad.mit.edu	37	20	62575994	62575994	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:62575994C>T	ENST00000369908.5	-	6	1002	c.703G>A	c.(703-705)Gag>Aag	p.E235K	UCKL1_ENST00000358711.3_Missense_Mutation_p.E250K|UCKL1_ENST00000354216.6_Missense_Mutation_p.E250K|UCKL1_ENST00000369892.3_Missense_Mutation_p.E250K	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	250					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGACACCCTCGATGTCCCGG	0.602000													6	29					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14037643	14037643	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:14037643C>G	ENST00000318003.7	+	20	2324	c.2083C>G	c.(2083-2085)Cag>Gag	p.Q695E	CC2D1A_ENST00000589606.1_Missense_Mutation_p.Q695E	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	695	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGAAGAAGCTCAGAAAGACAA	0.587000													14	46					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186045614	186045614	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:186045614G>T	ENST00000271588.4	+	54	8574	c.8345G>T	c.(8344-8346)aGg>aTg	p.R2782M	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2782M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2782	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GATACTGGCAGGAATGGTGAA	0.413000													5	85					1.23904e-05	1.34399e-05	1	1	0
DDX4	54514	broad.mit.edu	37	5	55076907	55076907	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:55076907C>A	ENST00000505374.1	+	9	602	c.510C>A	c.(508-510)gaC>gaA	p.D170E	DDX4_ENST00000353507.5_Missense_Mutation_p.D136E|DDX4_ENST00000354991.5_Missense_Mutation_p.D136E|DDX4_ENST00000511853.1_Missense_Mutation_p.D37E|DDX4_ENST00000514278.2_Missense_Mutation_p.D150E	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	170	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGACTTAGACCCAGACGAAT	0.333000													6	38					0.0293803	0.0299077	1	1	0
OSBPL11	114885	broad.mit.edu	37	3	125250824	125250824	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:125250824C>T	ENST00000296220.5	-	12	2348	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	687					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATTTCAGATTCTCTCAGCGAG	0.393000													16	72					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99491937	99491937	+	Splice_Site	SNP	T	T	G	rs45504297		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:99491937T>G	ENST00000268035.6	+	20	4333	c.3722T>G	c.(3721-3723)cTg>cGg	p.L1241R	IGF1R_ENST00000558762.1_Splice_Site_p.L1240R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1241	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCTGACATGCTGTACGTACTT	0.537000													7	71					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12595589	12595589	+	Translation_Start_Site	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:12595589G>T	ENST00000397732.3	-	0	54				CTD-3105H18.18_ENST00000598753.1_De_novo_Start_OutOfFrame|ZNF709_ENST00000428311.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GGAGACCCCAGAGCGGAGCGC	0.682000													3	17					0.004672	0.00484278	1	1	0
CHML	1122	broad.mit.edu	37	1	241798263	241798263	+	Missense_Mutation	SNP	C	C	T	rs148967774		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:241798263C>T	ENST00000366553.1	-	1	969	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	269					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTTTCCTTCCCGAAATGCAAG	0.353000													15	68					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161928235	161928235	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:161928235G>A	ENST00000367942.3	+	16	1871		c.e16-1			NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6						positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CCTGTCTGCAGAGAATGTGAT	0.433000													7	90					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901299	150901299	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:150901299C>A	ENST00000261800.5	-	18	10867	c.10855G>T	c.(10855-10857)Gtg>Ttg	p.V3619L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3619	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATGCCACACGTACACATGG	0.627000													5	28					0.000602214	0.000635849	1	1	0
RIN2	54453	broad.mit.edu	37	20	19977359	19977359	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:19977359C>G	ENST00000255006.6	+	11	2533	c.2384C>G	c.(2383-2385)tCt>tGt	p.S795C	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.S313C	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	746	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GGAGCACTTTCTCTGATAAAG	0.527000													5	28					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	855684	855684	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:855684C>T	ENST00000590230.1	+	5	628	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	ELANE_ENST00000263621.1_Missense_Mutation_p.R163C			P08246	ELNE_HUMAN	elastase, neutrophil expressed	163	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGCAGGAACCGTGGGATCGC	0.706000													10	50					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588358	72588358	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:72588358C>G	ENST00000392620.1	+	3	535	c.173C>G	c.(172-174)cCt>cGt	p.P58R	CD300LD_ENST00000375352.1_5'UTR|C17orf77_ENST00000328023.2_Missense_Mutation_p.P58R	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	58						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GTCTCCTCTCCTCTCCTTGGT	0.547000													11	53					0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910225	14910225	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:14910225C>T	ENST00000248073.2	-	1	798	c.724G>A	c.(724-726)Ggt>Agt	p.G242S	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	242					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGGTGGGAACCACAGGTGGAA	0.463000													9	78					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160769632	160769632	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160769632G>A	ENST00000368037.5	+	2	328	c.214G>A	c.(214-216)Gac>Aac	p.D72N	LY9_ENST00000392203.4_Missense_Mutation_p.D72N|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.D72N|LY9_ENST00000368041.2_Missense_Mutation_p.D32N|LY9_ENST00000341032.4_Missense_Mutation_p.D72N|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000263285.6_Missense_Mutation_p.D72N	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATCTCAGTAGACACAGAGAT	0.493000													10	77					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177713384	177713384	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:177713384C>G	ENST00000280193.2	-	1	497	c.82G>C	c.(82-84)Gcc>Ccc	p.A28P		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	28					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		gcggcggcggcggcgggcgcc	0.706000													3	14					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27389109	27389109	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:27389109C>G	ENST00000376087.4	-	1	312	c.147G>C	c.(145-147)aaG>aaC	p.K49N	ANKRD26_ENST00000436985.2_Missense_Mutation_p.K49N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	49						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTTTGTGGATCTTGCCGAGAT	0.622000													32	76					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9475228	9475228	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:9475228C>G	ENST00000281419.3	+	9	1109	c.769C>G	c.(769-771)Cag>Gag	p.Q257E	ASAP2_ENST00000315273.4_Missense_Mutation_p.Q257E	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	257					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGATCAAACAGGCCCAGGA	0.413000													9	40					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79974283	79974283	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:79974283G>C	ENST00000360280.3	+	58	8330	c.8070G>C	c.(8068-8070)atG>atC	p.M2690I	VPS13A_ENST00000357409.5_Missense_Mutation_p.M2690I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M2651I|VPS13A_ENST00000376634.4_Missense_Mutation_p.M2690I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2690					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTATTGTCATGAGATCTGCAG	0.308000													4	21					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294104	124294104	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:124294104A>G	ENST00000356130.3	-	1	685	c.664T>C	c.(664-666)Tcc>Ccc	p.S222P		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGATGTTGGAGAGTATCAAA	0.468000													14	29					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496203	9496203	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:9496203G>C	ENST00000246070.2	+	2	660	c.168G>C	c.(166-168)acG>acC	p.T56T	LAMP5_ENST00000427562.2_Silent_p.T56T	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	56						integral to membrane											ATGGGACGACGTGTCTCATGG	0.458000													12	112					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83834892	83834892	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:83834892G>C	ENST00000349129.2	+	14	1723	c.1463G>C	c.(1462-1464)aGa>aCa	p.R488T	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R479T|DOPEY1_ENST00000237163.5_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	488					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGCCTACTAGAAGTATGAGG	0.289000													4	34					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35591979	35591979	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:35591979C>G	ENST00000353139.5	-	25	3638	c.3157G>C	c.(3157-3159)Gag>Cag	p.E1053Q	ACACA_ENST00000335166.5_Missense_Mutation_p.E938Q|ACACA_ENST00000360679.3_Missense_Mutation_p.E958Q|ACACA_ENST00000394406.2_Missense_Mutation_p.E1016Q	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1016					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTTTATTCTCTTCTCGGAGG	0.398000													19	57					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46771875	46771875	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:46771875G>C	ENST00000529230.1	-	42	5699	c.5653C>G	c.(5653-5655)Cgg>Ggg	p.R1885G	CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825G|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825G|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1885					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAATCACCCGAAGGCCTCTT	0.413000													18	69					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116371801	116371801	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:116371801T>G	ENST00000397752.3	+	3	1480	c.1280T>G	c.(1279-1281)gTt>gGt	p.V427G	MET_ENST00000436117.2_Missense_Mutation_p.V427G|MET_ENST00000318493.6_Missense_Mutation_p.V427G|MET_ENST00000495962.1_3'UTR	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	427	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGCAGCGCGTTGACTTATTC	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				5	42					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44051155	44051155	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:44051155G>C	ENST00000543989.1	-	5	1741	c.36C>G	c.(34-36)gtC>gtG	p.V12V	ABCG5_ENST00000260645.1_Silent_p.V407V|ABCG5_ENST00000405322.1_Silent_p.V236V			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	407					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATTGCTTCGGACCCGCAGAA	0.512000													17	51					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30833434	30833434	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:30833434G>C	ENST00000256079.4	-	5	959	c.621C>G	c.(619-621)atC>atG	p.I207M		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	207					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTGCATAAAAGATTTTCAGAA	0.378000													9	56					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50947074	50947074	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:50947074G>A	ENST00000357701.5	+	11	1184		c.e11+1			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGTGATGTGGTAAGTGACCC	0.512000													50	61					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832871	61832871	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:61832871C>T	ENST00000280772.2	-	37	7959	c.7768G>A	c.(7768-7770)Gaa>Aaa	p.E2590K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTGACACTTCAGTCAGTTTT	0.418000													28	81					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125577982	125577982	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:125577982C>T	ENST00000518547.1	-	9	1218	c.745G>A	c.(745-747)Ggt>Agt	p.G249S	MTSS1_ENST00000524090.1_Missense_Mutation_p.G139S|MTSS1_ENST00000431961.2_Missense_Mutation_p.G49S|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.G249S|MTSS1_ENST00000354184.4_Missense_Mutation_p.G49S|MTSS1_ENST00000325064.5_Missense_Mutation_p.G253S	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	249	IMD.|Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAATCAGAACCTTTCAAGTCC	0.542000													3	31					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166896082	166896082	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:166896082C>T	ENST00000423058.2	-	14	2457	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	SCN1A_ENST00000409050.1_Missense_Mutation_p.E786K|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.E814K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E803K|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	814						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGAAACATTTCTGCTGTAAAG	0.333000													5	19					0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87367589	87367589	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:87367589C>A	ENST00000311635.7	-	8	1312	c.1300G>T	c.(1300-1302)Gcc>Tcc	p.A434S	RP11-178L8.4_ENST00000568879.1_Silent_p.R97R	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	434					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGCTGCTCGGCCGCAGCTACG	0.692000													3	29					0.115264	0.116437	1	1	0
DLGAP4	22839	broad.mit.edu	37	20	35064619	35064619	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:35064619C>T	ENST00000373913.3	+	4	1587	c.1107C>T	c.(1105-1107)taC>taT	p.Y369Y	DLGAP4_ENST00000373907.2_Silent_p.Y369Y|DLGAP4_ENST00000401952.2_Silent_p.Y369Y|DLGAP4_ENST00000339266.5_Silent_p.Y369Y			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	369					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCGGCAGCTACATCAAGGCCA	0.736000													3	11					0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160205738	160205738	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:160205738G>A	ENST00000321394.7	-	6	910	c.630C>T	c.(628-630)ctC>ctT	p.L210L	TCP1_ENST00000420894.2_Silent_p.L210L|TCP1_ENST00000392168.2_Silent_p.L55L|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	210					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGCCACTGATGAGCATACTCT	0.413000													10	130					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41572563	41572563	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:41572563G>T	ENST00000396942.1	-	15	1715	c.1632C>A	c.(1630-1632)gcC>gcA	p.A544A	ANK1_ENST00000379758.2_Silent_p.A544A|ANK1_ENST00000396945.1_Silent_p.A544A|ANK1_ENST00000347528.4_Silent_p.A544A|ANK1_ENST00000289734.7_Silent_p.A544A|ANK1_ENST00000265709.8_Silent_p.A577A|ANK1_ENST00000352337.4_Silent_p.A544A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	544	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCCGTACTTGGCCGCCACGT	0.627000													4	55					0.000602214	0.000635849	1	1	0
TTN	7273	broad.mit.edu	37	2	179616411	179616411	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179616411G>T	ENST00000360870.5	-	46	10938	c.10716C>A	c.(10714-10716)gaC>gaA	p.D3572E	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3567	Ig-like 21.						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)			CAGAATCTCTGTCTTGGACCC	0.403000													19	104					6.94344e-10	8.03658e-10	1	1	0
BABAM1	29086	broad.mit.edu	37	19	17382464	17382464	+	Splice_Site	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:17382464G>C	ENST00000359435.4	+	3	537	c.344G>C	c.(343-345)gGc>gCc	p.G115A	CTD-2278I10.6_ENST00000596542.1_Intron|BABAM1_ENST00000601043.1_Splice_Site_p.G115A|BABAM1_ENST00000598188.1_Splice_Site_p.G115A|BABAM1_ENST00000447614.2_Splice_Site_p.G115A|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000595632.1_Splice_Site_p.G115A	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	115	VWFA-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding	p.G115V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TCGTTCAACGGGTAAGAGGGA	0.532000													3	18					0	0	1	0	0
ARPC4	10093	broad.mit.edu	37	3	9845628	9845628	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:9845628G>C	ENST00000397261.3	+	5	996	c.432G>C	c.(430-432)aaG>aaC	p.K144N	ARPC4-TTLL3_ENST00000397256.1_Intron|ARPC4_ENST00000498623.2_Missense_Mutation_p.K54N|ARPC4_ENST00000287613.7_Missense_Mutation_p.K54N|ARPC4_ENST00000433034.1_Missense_Mutation_p.K163N	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					AGATTGACAAGGAGATCAGTG	0.468000													14	122					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74856157	74856157	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:74856157G>A	ENST00000358399.3	+	11	1171	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	GDA_ENST00000545168.1_Missense_Mutation_p.E286K|GDA_ENST00000376989.3_Missense_Mutation_p.E299K|GDA_ENST00000376986.1_Missense_Mutation_p.E282K|GDA_ENST00000238018.4_Missense_Mutation_p.E360K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	360					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TAAGGTAAATGAGAAAAGCCT	0.403000													6	55					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70405499	70405499	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:70405499C>G	ENST00000373644.4	+	4	3222	c.3013C>G	c.(3013-3015)Ctt>Gtt	p.L1005V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1005					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTCATTATCTCTTTTTATACC	0.338000													6	62					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524560	187524560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:187524560G>T	ENST00000441802.2	-	19	11329	c.11120C>A	c.(11119-11121)tCa>tAa	p.S3707*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3707					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGTTTTGTTGAGATCTGAGC	0.433000										HNSCC(5;0.00058)			10	28					1.58986e-06	1.75815e-06	1	1	0
CEACAM7	1087	broad.mit.edu	37	19	42192066	42192066	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:42192066C>G	ENST00000006724.3	-	1	230	c.29G>C	c.(28-30)aGa>aCa	p.R10T	CEACAM7_ENST00000401731.1_Missense_Mutation_p.R10T|CEACAM7_ENST00000338196.4_Missense_Mutation_p.R10T|CEACAM7_ENST00000602225.1_Missense_Mutation_p.R10T|CEACAM7_ENST00000599715.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	10						anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		AATGCACACTCTGTATGGACA	0.617000													14	44					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10883223	10883223	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:10883223G>A	ENST00000314646.5	+	3	468	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	DNM2_ENST00000585892.1_Missense_Mutation_p.E102K|DNM2_ENST00000355667.6_Missense_Mutation_p.E102K|DNM2_ENST00000389253.4_Missense_Mutation_p.E102K|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000359692.6_Missense_Mutation_p.E102K|DNM2_ENST00000408974.4_Missense_Mutation_p.E102K			P50570	DYN2_HUMAN	dynamin 2	102					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCAGGAGATTGAAGCAGAGAC	0.522000			"""F, N, Splice, Mis, O"""		ETP ALL								13	90					0	0	1	0	0
HTN1	3346	broad.mit.edu	37	4	70920139	70920139	+	Splice_Site	SNP	G	G	A	rs78945345		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:70920139G>A	ENST00000511674.1	+	4	145	c.74G>A	c.(73-75)aGa>aAa	p.R25K	HTN1_ENST00000246896.3_Splice_Site_p.R25K			P15515	HIS1_HUMAN	histatin 1	25					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						ATTTCATAGAGACATCATGGG	0.289000													6	15					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944892	112944892	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:112944892G>T	ENST00000331203.2	+	8	1400	c.1129G>T	c.(1129-1131)Ggt>Tgt	p.G377C	FBLN7_ENST00000409450.3_Missense_Mutation_p.G331C|FBLN7_ENST00000409667.3_Missense_Mutation_p.G243C|FBLN7_ENST00000409903.1_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	377					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGGGATCGTGGGTGGGAACAG	0.642000													10	115					3.86212e-05	4.15518e-05	1	1	0
UNK	85451	broad.mit.edu	37	17	73780818	73780818	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:73780818G>A	ENST00000293218.3	+	2	85	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGACATAGAACCACAACT	0.637000													3	21					0	0	1	0	0
ARL13B	200894	broad.mit.edu	37	3	93699277	93699277	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:93699277C>G	ENST00000303097.7	+	1	292	c.10C>G	c.(10-12)Ctg>Gtg	p.L4V	ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.L4V|ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000394222.3_Missense_Mutation_p.L4V	NM_144996.3	NP_659433.2	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	4							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GATGTTCAGTCTGATGGCCAG	0.692000													13	74					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120564	38120564	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:38120564C>G	ENST00000406386.3	+	7	2256	c.2001C>G	c.(1999-2001)atC>atG	p.I667M		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	667					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACAGAACCATCCAACAAGAGA	0.572000													18	47					0	0	1	0	0
PAWR	5074	broad.mit.edu	37	12	79986470	79986470	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:79986470G>A	ENST00000328827.4	-	7	1312	c.940C>T	c.(940-942)Cta>Tta	p.L314L		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	314	Leucine-zipper.				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						ATGTCATCTAGGTCCTTAAGA	0.299000													6	23					0	0	1	0	0
PES1	23481	broad.mit.edu	37	22	30980647	30980647	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:30980647G>C	ENST00000402281.1	-	7	1000	c.9C>G	c.(7-9)ttC>ttG	p.F3L	PES1_ENST00000354694.7_Missense_Mutation_p.F142L|PES1_ENST00000402284.3_Missense_Mutation_p.F142L|PES1_ENST00000335214.6_Missense_Mutation_p.F142L|PES1_ENST00000405677.1_Missense_Mutation_p.F3L	NM_001282327.1	NP_001269256.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	142	Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGGAAAACAGGAAGCACATGG	0.607000													4	27					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67578265	67578265	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:67578265C>T	ENST00000540839.3	+	16	2941	c.2721C>T	c.(2719-2721)ctC>ctT	p.L907L	FAM65A_ENST00000379312.3_Silent_p.L892L|FAM65A_ENST00000428437.2_Silent_p.L902L|FAM65A_ENST00000042381.4_Silent_p.L888L|FAM65A_ENST00000422602.2_Silent_p.L908L			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	892						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCGCCCCCTCAGCACGGGGT	0.652000													28	73					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158283999	158283999	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:158283999A>G	ENST00000296526.7	+	15	2780	c.2455A>G	c.(2455-2457)Atc>Gtc	p.I819V	GRIA2_ENST00000507898.1_Missense_Mutation_p.I772V|GRIA2_ENST00000393815.2_Missense_Mutation_p.I772V|GRIA2_ENST00000264426.9_Missense_Mutation_p.I819V|GRIA2_ENST00000449365.1_Missense_Mutation_p.I772V	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	819					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGTATTCTACATCCTTGTCGG	0.468000													7	51					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32456366	32456366	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:32456366G>A	ENST00000332351.3	-	1	810	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	WT1_ENST00000448076.3_Missense_Mutation_p.R176C	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	108					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGCCCGTAGCGACAGGCTCCG	0.692000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				6	18					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124621381	124621381	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:124621381C>A	ENST00000403470.1	-	2	212	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	VSIG2_ENST00000326621.5_Missense_Mutation_p.D53Y			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	53	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GCGAAGCTGTCTCCCACCGAC	0.637000													8	52					0.00448238	0.00467062	1	1	0
SMARCA1	6594	broad.mit.edu	37	X	128614761	128614761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:128614761G>A	ENST00000371122.4	-	19	2488	c.2359C>T	c.(2359-2361)Cag>Tag	p.Q787*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Q775*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Q775*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	787					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	p.Q787fs*25(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGAAAATCCTGAACATTTGGC	0.343000													13	12					0	0	1	0	0
NARFL	64428	broad.mit.edu	37	16	786283	786283	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:786283G>C	ENST00000540986.1	-	3	1551	c.116C>G	c.(115-117)tCa>tGa	p.S39*	NARFL_ENST00000251588.2_Nonsense_Mutation_p.S141*|NARFL_ENST00000301694.5_Intron|NARFL_ENST00000568545.1_Nonsense_Mutation_p.S39*			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	141					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TTTAAAGAATGAGGTTAATTT	0.522000													7	54					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950282	118950282	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:118950282A>G	ENST00000328252.3	+	2	1634	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	422	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATTGGGGATGAGAACTGTGAC	0.627000													19	36					0	0	1	0	0
RPL6	6128	broad.mit.edu	37	12	112846122	112846122	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:112846122C>G	ENST00000424576.2	-	3	443	c.258G>C	c.(256-258)gaG>gaC	p.E86D	RPL6_ENST00000202773.9_Missense_Mutation_p.E86D	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	86					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						CGAGAACCTTCTCCTTCTTTT	0.433000													15	97					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40052303	40052303	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:40052303C>T	ENST00000373233.3	-	30	4561	c.4384G>A	c.(4384-4386)Gtg>Atg	p.V1462M		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1462					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAGGAAGACACTGTTCTATAG	0.408000													12	167					0	0	1	0	0
RAD51D	5892	broad.mit.edu	37	17	33427979	33427979	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:33427979T>G	ENST00000345365.6	-	10	1235	c.980A>C	c.(979-981)cAg>cCg	p.Q327P	RAD51D_ENST00000590016.1_Missense_Mutation_p.Q347P|RAD51D_ENST00000394589.4_Missense_Mutation_p.Q327P|RAD51D_ENST00000360276.3_Missense_Mutation_p.Q282P|RAD51D_ENST00000460118.2_Missense_Mutation_p.Q208P|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Missense_Mutation_p.Q215P|RAD51L3-RFFL_ENST00000593039.1_Intron	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	327					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGGTCATGTCTGATCACCCTG	0.532000								Direct reversal of damage					16	61					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25484683	25484683	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:25484683C>T	ENST00000278886.6	-	7	839	c.766G>A	c.(766-768)Gag>Aag	p.E256K	NINL_ENST00000422516.1_Missense_Mutation_p.E256K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	256	EF-hand 4.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGGAATTCCTCAAGACTCACT	0.498000													33	113					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230761	75230761	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:75230761C>G	ENST00000325680.7	+	1	693	c.569C>G	c.(568-570)tCc>tGc	p.S190C	YLPM1_ENST00000552421.1_Missense_Mutation_p.S190C|YLPM1_ENST00000238571.3_Missense_Mutation_p.S190C	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	33	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTCAGCCGTCCCCTTCGCAG	0.597000													8	42					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193007837	193007837	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:193007837G>C	ENST00000342358.4	-	26	2977	c.2860C>G	c.(2860-2862)Cat>Gat	p.H954D	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	954					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGGTAGGCATGAGTTGAACTC	0.383000													6	64					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40049171	40049171	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:40049171C>G	ENST00000373233.3	-	31	6281	c.6104G>C	c.(6103-6105)aGa>aCa	p.R2035T		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2035					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTTTCCGTCTCTATCATAATC	0.433000													18	89					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763523	44763523	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:44763523G>A	ENST00000296091.4	+	4	1470	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	ZNF502_ENST00000436624.2_Missense_Mutation_p.R405K|ZNF502_ENST00000449836.1_Missense_Mutation_p.R405K	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACAGGGGAGAGACCCTACAAA	0.413000													16	30					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56138648	56138648	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:56138648G>C	ENST00000373965.2	-	4	606	c.212C>G	c.(211-213)cCc>cGc	p.P71R	PCDH15_ENST00000373957.3_Missense_Mutation_p.P49R|PCDH15_ENST00000395433.1_Missense_Mutation_p.P49R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P71R|PCDH15_ENST00000320301.6_Missense_Mutation_p.P71R|PCDH15_ENST00000395438.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395442.1_Missense_Mutation_p.P71R|PCDH15_ENST00000414778.1_Missense_Mutation_p.P76R|PCDH15_ENST00000437009.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395445.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395440.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395432.2_Missense_Mutation_p.P71R|PCDH15_ENST00000395446.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395430.1_Missense_Mutation_p.P71R|PCDH15_ENST00000373955.1_Missense_Mutation_p.P71R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	71	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTATGGTGGGGTCTGGTCC	0.423000										HNSCC(58;0.16)			8	149					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88967883	88967883	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:88967883C>T	ENST00000375961.2	-	2	446	c.232G>A	c.(232-234)Gca>Aca	p.A78T	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A78T|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.A78T			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	78					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTTTTAAATGCATATGGATTG	0.418000													15	144					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68682376	68682376	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:68682376G>A	ENST00000255078.3	+	6	908	c.797G>A	c.(796-798)gGa>gAa	p.G266E	IGHMBP2_ENST00000539224.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	266	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCGCCTGGGACACCCTGCC	0.612000													10	64					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55319266	55319266	+	Splice_Site	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr18:55319266C>T	ENST00000536015.1	-	26	3519	c.3400G>A	c.(3400-3402)Ggc>Agc	p.G1134S	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Splice_Site_p.G1134S|RP11-35G9.3_ENST00000591854.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1134					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AAATACCAACCTGTAAATTGA	0.294000													3	38					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902491	52902491	+	Missense_Mutation	SNP	A	A	G	rs61731677	by1000genomes	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:52902491A>G	ENST00000261844.7	-	6	772	c.620T>C	c.(619-621)gTt>gCt	p.V207A	FAM214A_ENST00000546305.2_Missense_Mutation_p.V214A	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	207				V -> A (in Ref. 2; BAF85606).													TTTCAAGGCAACATTGTGAGA	0.393000													4	64					0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22294754	22294754	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:22294754G>C	ENST00000306482.1	-	2	606	c.88C>G	c.(88-90)Ccc>Gcc	p.P30A	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	30					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GGACAGATGGGCAAGGGGGCC	0.592000													4	30					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728804	51728804	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:51728804G>T	ENST00000262262.4	+	2	389	c.368G>T	c.(367-369)gGa>gTa	p.G123V	CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.G123V|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	123	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ATGGAGAGAGGAAGTACCAAA	0.527000													13	52					2.27111e-07	2.54698e-07	1	1	0
SAMD4B	55095	broad.mit.edu	37	19	39868426	39868426	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39868426G>A	ENST00000314471.6	+	10	2441	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.G469E	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	469							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTCGCCGACGGAGACATCCCC	0.622000													4	52					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915769	72915769	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:72915769C>T	ENST00000319642.1	-	2	1344	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	388	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGCTAGTCTCGGGCTCCAGG	0.632000													7	41					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37947189	37947189	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:37947189A>T	ENST00000436072.2	-	6	1310	c.933T>A	c.(931-933)agT>agA	p.S311R	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	311					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGGGGGGATTACTACGACTGG	0.498000													9	79					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46243532	46243532	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:46243532G>C	ENST00000334344.6	+	14	2057	c.1885G>C	c.(1885-1887)Gat>Cat	p.D629H	ARID2_ENST00000422737.1_Missense_Mutation_p.D480H|ARID2_ENST00000444670.1_Missense_Mutation_p.D239H|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	629					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTCCTGATGTATCTCC	0.343000			"""N, S, F"""		hepatocellular carcinoma								36	158					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319618	43319618	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr18:43319618C>T	ENST00000321925.4	+	8	1169	c.937C>T	c.(937-939)Ctt>Ttt	p.L313F	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.L205F|SLC14A1_ENST00000586142.1_Missense_Mutation_p.L313F|SLC14A1_ENST00000591541.1_Missense_Mutation_p.L17F|SLC14A1_ENST00000436407.3_Missense_Mutation_p.L369F|SLC14A1_ENST00000415427.3_Missense_Mutation_p.L369F|SLC14A1_ENST00000402943.2_Missense_Mutation_p.L208F|SLC14A1_ENST00000535474.1_Missense_Mutation_p.L181F|SLC14A1_ENST00000589700.1_Silent_p.L263L|RP11-116O18.3_ENST00000586213.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	313						integral to plasma membrane	urea transmembrane transporter activity	p.L313V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCTCCTGGCTCTTGGCTGTGG	0.532000													9	35					0	0	1	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356594	2356594	+	RNA	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:2356594C>G	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							TTTCTCTTTTCCAACTTGTTG	0.413000													8	42					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21821928	21821928	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:21821928C>T	ENST00000216297.2	-	24	3192	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	952	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TAGTCATCTTCTGAAGGATTA	0.408000													7	86					0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16601209	16601209	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:16601209C>T	ENST00000269881.3	-	3	428	c.366G>A	c.(364-366)ctG>ctA	p.L122L	CTD-3222D19.2_ENST00000409035.1_Intron	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	122	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						ATTTTCCATTCAGGTTCTTCT	0.423000													26	55					0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60501649	60501649	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:60501649G>T	ENST00000311506.5	+	2	216	c.180G>T	c.(178-180)caG>caT	p.Q60H		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	60							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			ACAGTATCCAGCGGGTGTGCC	0.592000											OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	30					0.00024832	0.000263591	1	1	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41105755	41105755	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41105755C>G	ENST00000421990.2	-	15	1861	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q	AARSD1_ENST00000427569.2_Missense_Mutation_p.E332Q|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.E506Q|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.E445Q|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.E415Q	NM_001136042.2	NP_001129514.2																					GACCCAATCTCATTGGCAATG	0.502000													8	54					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100245529	100245529	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:100245529G>A	ENST00000355295.4	+	15	3106	c.2811G>A	c.(2809-2811)aaG>aaA	p.K937K	TDRD7_ENST00000540902.1_Silent_p.K257K|TDRD7_ENST00000422139.2_Silent_p.K863K	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	937	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGATACATAAGTTGGAAGTTC	0.478000													6	75					0	0	1	0	0
ROPN1	54763	broad.mit.edu	37	3	123688915	123688915	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:123688915C>A	ENST00000184183.4	-	6	886	c.546G>T	c.(544-546)agG>agT	p.R182S	ROPN1_ENST00000405845.3_Missense_Mutation_p.R182S	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	182					signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		AGTTTAGCATCCTGCTGACAT	0.453000													10	98					1.76689e-08	2.02149e-08	1	1	0
IL13RA1	3597	broad.mit.edu	37	X	117900535	117900535	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:117900535G>A	ENST00000371666.3	+	7	938	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	291						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TGAGAGAAATGTGGAGGTCAG	0.333000													22	32					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115350145	115350145	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:115350145G>A	ENST00000357872.4	+	16	2495	c.2371G>A	c.(2371-2373)Gcg>Acg	p.A791T	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		791					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TTTTGTAACTGCGTGTTGGTT	0.358000													5	55					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56603022	56603022	+	Silent	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:56603022A>G	ENST00000407595.2	+	5	2026	c.1524A>G	c.(1522-1524)ggA>ggG	p.G508G	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	508										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTTCAGTGGACATGCCACAC	0.458000													6	27					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223994610	223994610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:223994610G>A	ENST00000391878.2	-	6	793	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	TP53BP2_ENST00000343537.7_Nonsense_Mutation_p.Q138*	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	132					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCCATTTCCTGAAGTTCAGCA	0.408000													36	76					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44574444	44574444	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:44574444G>C	ENST00000372409.3	+	12	1627	c.1263G>C	c.(1261-1263)atG>atC	p.M421I	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	421						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GCGTGGAGATGCACATGGAGA	0.612000													9	105					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48737057	48737057	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:48737057T>C	ENST00000544117.2	-	6	1724	c.1016A>G	c.(1015-1017)cAg>cGg	p.Q339R	ZNF641_ENST00000448928.3_Missense_Mutation_p.Q316R|ZNF641_ENST00000301042.3_Missense_Mutation_p.Q339R|ZNF641_ENST00000547026.1_Missense_Mutation_p.Q325R			Q96N77	ZN641_HUMAN	zinc finger protein 641	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						ATGCACTCTCTGGTGGCTGGC	0.557000													25	81					0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70522288	70522288	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:70522288G>A	ENST00000538820.1	+	3	485	c.145G>A	c.(145-147)Gag>Aag	p.E49K	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.E67K			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	67	CHORD 1.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					ACACTGTGCTGAGAAGCTTCC	0.458000													8	16					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919613	97919613	+	RNA	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:97919613G>C	ENST00000534948.1	+	0	4391							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CATCTAATCAGATTATAGGAG	0.373000													11	54					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124209673	124209673	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:124209673G>A	ENST00000360013.3	+	30	4650	c.4523G>A	c.(4522-4524)aGc>aAc	p.S1508N	KALRN_ENST00000460856.1_Missense_Mutation_p.S1499N|KALRN_ENST00000240874.3_Missense_Mutation_p.S1508N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1508	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGGTTTTTAGCAAGGAGATC	0.498000													26	54					0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132098183	132098183	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:132098183A>T	ENST00000296873.7	-	5	972	c.689T>A	c.(688-690)gTc>gAc	p.V230D	SEPT8_ENST00000378706.1_Missense_Mutation_p.V230D|SEPT8_ENST00000448933.1_Missense_Mutation_p.V170D|SEPT8_ENST00000458488.2_Missense_Mutation_p.V230D|SEPT8_ENST00000378699.2_Missense_Mutation_p.V170D|SEPT8_ENST00000378721.4_Missense_Mutation_p.V228D|SEPT8_ENST00000378701.1_Missense_Mutation_p.V228D|SEPT8_ENST00000378719.2_Missense_Mutation_p.V230D	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	230					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACATTCATGACTGCGTTAAT	0.577000													8	56					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189439	38189439	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:38189439T>G	ENST00000355202.4	-	5	2188	c.1593A>C	c.(1591-1593)aaA>aaC	p.K531N	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.K530N	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	531			K -> R (in dbSNP:rs958305).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTCAAAGGGTTTCTTACCAC	0.403000													62	80					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33110200	33110200	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:33110200G>A	ENST00000306065.4	-	20	2131	c.1973C>T	c.(1972-1974)tCa>tTa	p.S658L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	658					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTCCTGCCTTGAGCTGGCTGA	0.642000													7	102					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36727883	36727883	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:36727883G>C	ENST00000456324.1	+	3	1990	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	ZNF146_ENST00000443387.2_Missense_Mutation_p.E181Q|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	181					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TCACACTGGAGAGAAACCCTA	0.393000													57	59					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087923	175087923	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:175087923C>A	ENST00000239462.4	+	11	2726	c.2613C>A	c.(2611-2613)aaC>aaA	p.N871K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	871	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAAGGGGAACCAGGAGAGCA	0.587000													5	73					0.014758	0.0151003	1	1	0
TEK	7010	broad.mit.edu	37	9	27197331	27197331	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:27197331G>C	ENST00000380036.4	+	12	2085	c.1643G>C	c.(1642-1644)gGt>gCt	p.G548A	TEK_ENST00000519097.1_Missense_Mutation_p.G401A|TEK_ENST00000406359.4_Missense_Mutation_p.G505A	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	548	Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCTCCAAGAGGTCTAAATCTC	0.403000													8	72					0	0	1	0	0
DACT3	147906	broad.mit.edu	37	19	47151947	47151947	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:47151947C>T	ENST00000391916.2	-	4	1755	c.1682G>A	c.(1681-1683)aGc>aAc	p.S561N	DACT3_ENST00000300875.4_Missense_Mutation_p.S336N	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	561										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		GGAGGCAGAGCTGAAGGCAGG	0.751000													6	82					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55961065	55961065	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:55961065G>C	ENST00000263923.4	-	21	3170	c.2875C>G	c.(2875-2877)Ctg>Gtg	p.L959V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	959	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CGCCGTTTCAGATCCACAGGG	0.478000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			12	61					0	0	1	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709409	31709409	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:31709409T>C	ENST00000382835.2	-	1	603	c.578A>G	c.(577-579)gAa>gGa	p.E193G		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	193						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GCAAGTTGGTTCAACTCCTGG	0.438000													8	52					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16892712	16892712	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:16892712G>C	ENST00000355661.3	-	4	249	c.239C>G	c.(238-240)aCa>aGa	p.T80R	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T80R|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T80R			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	80	WW 2.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCTGAATGCTGTGGTCTGCTG	0.428000													6	32					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	69255458	69255458	+	Nonstop_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:69255458A>G	ENST00000374552.4	+	8	1417	c.1175A>G	c.(1174-1176)tAg>tGg	p.*392W	EDA_ENST00000374553.2_Nonstop_Mutation_p.*390W|EDA_ENST00000524573.1_Nonstop_Mutation_p.*387W	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	0					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CCTGCATCCTAGATTCCCCCC	0.567000													31	34					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838763	100838763	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:100838763A>T	ENST00000369208.3	-	12	2557	c.1775T>A	c.(1774-1776)cTg>cAg	p.L592Q	SIM1_ENST00000262901.4_Missense_Mutation_p.L592Q			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	592	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AATGGAAGCCAGTTGGTCTGA	0.468000													8	65					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224183	44224183	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:44224183G>A	ENST00000393812.3	-	3	399	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	SLC35B2_ENST00000538577.1_Intron|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Intron|SLC35B2_ENST00000495706.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	86					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGGCCTTGGGCTCATTGCCA	0.577000													11	75					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207200869	207200869	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:207200869C>A	ENST00000359470.5	-	2	324	c.75G>T	c.(73-75)atG>atT	p.M25I	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	25						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGCTGCTCATCATGCTGTCAC	0.632000													6	51					3.59834e-05	3.8819e-05	1	1	0
MOB3C	148932	broad.mit.edu	37	1	47078790	47078790	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:47078790G>C	ENST00000371940.1	-	1	3347	c.273C>G	c.(271-273)ttC>ttG	p.F91L	MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.F120L|MOB3C_ENST00000319928.3_Missense_Mutation_p.F68L|MKNK1_ENST00000545730.1_Intron			Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	68							metal ion binding										TGATGCGGTTGAAGAAGTCCA	0.652000													7	27					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30107006	30107006	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:30107006C>G	ENST00000380752.5	-	4	870	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	162					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCGGGGTTTTCAGCCAGCACG	0.547000													21	77					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005731	74005731	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:74005731C>T	ENST00000301607.3	-	22	3808	c.3555G>A	c.(3553-3555)aaG>aaA	p.K1185K	EVPL_ENST00000586740.1_Silent_p.K1207K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1185	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGCCTCTGCTTCTCCACCA	0.632000													4	57					0	0	1	0	0
C2orf47	79568	broad.mit.edu	37	2	200820940	200820940	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:200820940G>A	ENST00000295079.2	+	2	741	c.419G>A	c.(418-420)aGc>aAc	p.S140N	C2orf47_ENST00000392290.1_Missense_Mutation_p.S140N	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	140						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						AAAGAGTTCAGCATCACAGAG	0.463000													27	84					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49800544	49800544	+	Splice_Site	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:49800544A>C	ENST00000299338.6	-	11	1179	c.876T>G	c.(874-876)ggT>ggG	p.G292G	FAM227B_ENST00000561064.1_Splice_Site_p.G258G	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GAGGTTTTAAACCTGTTAATA	0.303000													6	44					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37599809	37599809	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:37599809G>T	ENST00000300651.6	-	3	428	c.205C>A	c.(205-207)Ctc>Atc	p.L69I	MED1_ENST00000394287.3_Missense_Mutation_p.L69I	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	69	Interaction with ESR1.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AAACCTTTGAGAGCCTTCTGC	0.398000										HNSCC(31;0.082)			8	49					0.00448238	0.00467062	1	1	0
ST3GAL1	6482	broad.mit.edu	37	8	134475669	134475669	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:134475669C>T	ENST00000319914.5	-	7	1744	c.717G>A	c.(715-717)gtG>gtA	p.V239V	ST3GAL1_ENST00000522652.1_Silent_p.V239V|ST3GAL1_ENST00000521180.1_Silent_p.V239V|ST3GAL1_ENST00000399640.2_Silent_p.V239V			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	239					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TATCCTGTTTCACTCTGATCT	0.547000													3	17					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851768	43851768	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:43851768G>A	ENST00000372769.3	+	2	1585	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	499	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TTTCCAAATTGAAAAGCTAGT	0.398000													6	77					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10419989	10419989	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:10419989T>C	ENST00000397077.1	-	9	1588	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	ATP2B2_ENST00000343816.4_Missense_Mutation_p.K369R|ATP2B2_ENST00000352432.4_Missense_Mutation_p.K383R|ATP2B2_ENST00000383800.4_Missense_Mutation_p.K338R|ATP2B2_ENST00000360273.2_Missense_Mutation_p.K383R			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	383					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGCACGGACTTCTCCTTCTT	0.657000													8	66					0	0	1	0	0
SEC62	7095	broad.mit.edu	37	3	169710730	169710730	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:169710730G>A	ENST00000337002.4	+	8	1137	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E	SEC62_ENST00000480708.1_Missense_Mutation_p.G360E	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	360					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						AGTGGAAATGGAAATGATTTT	0.458000													4	39					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123451827	123451827	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:123451827G>C	ENST00000360772.3	-	12	1810	c.1432C>G	c.(1432-1434)Cgg>Ggg	p.R478G	MYLK_ENST00000475616.1_Missense_Mutation_p.R478G|MYLK_ENST00000359169.1_Missense_Mutation_p.R478G|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360304.3_Missense_Mutation_p.R478G			Q15746	MYLK_HUMAN	myosin light chain kinase	478	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCCTGGTCCGGGCTTTCAGC	0.577000													6	44					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117342611	117342611	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:117342611C>G	ENST00000321322.6	-	15	3107	c.3106G>C	c.(3106-3108)Gag>Cag	p.E1036Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E766Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	976	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGGTGAGCTCCTTGCTTGGT	0.592000													21	32					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153539541	153539541	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:153539541A>T	ENST00000369915.3	+	5	811	c.622A>T	c.(622-624)Aag>Tag	p.K208*	TKTL1_ENST00000369912.2_Nonsense_Mutation_p.K152*|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	208					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTGAAGCACAAGCCCACTGC	0.587000													25	83					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233120095	233120095	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:233120095G>T	ENST00000258229.9	-	34	6603	c.6369C>A	c.(6367-6369)ggC>ggA	p.G2123G	PCNXL2_ENST00000344698.2_3'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGTCGTCCAGGCCCATGTCCT	0.667000													4	25					0.00024832	0.000263591	1	1	0
MYC	4609	broad.mit.edu	37	8	128750529	128750529	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:128750529C>A	ENST00000377970.2	+	2	576	c.66C>A	c.(64-66)ttC>ttA	p.F22L	MYC_ENST00000524013.1_Missense_Mutation_p.F21L|MYC_ENST00000259523.6_Missense_Mutation_p.F7L	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	7					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		ACGTTAGCTTCACCAACAGGA	0.587000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	61					1.08312e-15	1.29909e-15	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7710807	7710807	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:7710807G>C	ENST00000572933.1	+	63	11092	c.9632G>C	c.(9631-9633)cGg>cCg	p.R3211P	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3211P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3211	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGCTATATCGGGTGGTGGAG	0.642000													5	53					0	0	1	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41687143	41687143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:41687143C>A	ENST00000260361.4	-	3	1054	c.673G>T	c.(673-675)Gag>Tag	p.E225*		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	225					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TCTGTGTCCTCCTTGATATTC	0.488000													12	39					3.07112e-06	3.38676e-06	1	1	0
GRID1	2894	broad.mit.edu	37	10	88123752	88123752	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:88123752T>C	ENST00000327946.7	-	2	266	c.181A>G	c.(181-183)Acc>Gcc	p.T61A		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	61						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ATGGAGTAGGTGATCTTCTCG	0.602000										Multiple Myeloma(13;0.14)			8	37					0	0	1	0	0
WFDC13	164237	broad.mit.edu	37	20	44330835	44330835	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:44330835A>C	ENST00000305479.2	+	1	181	c.73A>C	c.(73-75)Aag>Cag	p.K25Q	WFDC10B_ENST00000335769.2_Intron|WFDC10B_ENST00000330523.5_Intron	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	25						extracellular region	peptidase inhibitor activity			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				TGGGAGTCCCAAGCAGCGTGT	0.562000													4	22					0	0	1	0	0
HIGD1C	613227	broad.mit.edu	37	12	51347856	51347856	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:51347856C>A	ENST00000398455.3	+	1	152	c.75C>A	c.(73-75)gaC>gaA	p.D25E		NM_001109619.1	NP_001103089.1	A8MV81	HIG1C_HUMAN	HIG1 hypoxia inducible domain family, member 1C	25	HIG1.					integral to membrane				lung(1)	1						AATCTAGAGACTCCCCCTTTG	0.413000													9	82					0.00621372	0.00642408	1	1	0
SPPL2C	162540	broad.mit.edu	37	17	43923859	43923859	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:43923859G>A	ENST00000329196.5	+	1	1604	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	529						integral to membrane	aspartic-type endopeptidase activity										GGACTGGCCAGGGCAGAGCTA	0.632000													11	55					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9323690	9323690	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:9323690G>A	ENST00000377403.2	+	5	1440	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	H6PD_ENST00000602477.1_Missense_Mutation_p.V391M	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	380	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GGCCTGCTGTGTGCAGAGCGA	0.642000													7	74					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52379062	52379062	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:52379062C>G	ENST00000257963.4	+	6	1143	c.1066C>G	c.(1066-1068)Ctg>Gtg	p.L356V	ACVR1B_ENST00000541224.1_Missense_Mutation_p.L397V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.L356V|ACVR1B_ENST00000542485.1_Missense_Mutation_p.L304V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.L356V|ACVR1B_ENST00000563121.1_3'UTR	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	356	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AGACCTGGGCCTGGCTGTCCG	0.522000													14	64					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5494799	5494799	+	Translation_Start_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:5494799G>A	ENST00000542715.1	+	0	434				NET1_ENST00000355029.4_Intron|NET1_ENST00000380359.3_Intron			Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AATGACCTCTGATGTTTGCTG	0.323000													10	83					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159166681	159166681	+	Splice_Site	SNP	C	C	G	rs149370954	by1000genomes	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:159166681C>G	ENST00000368125.4	+	7	940	c.783C>G	c.(781-783)gtC>gtG	p.V261V	CADM3_ENST00000368124.4_Splice_Site_p.V295V|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	261	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GCCTCGACAGCCCCCAGCAGT	0.517000													5	53					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629419	9629419	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:9629419C>A	ENST00000382492.2	-	1	1044	c.726G>T	c.(724-726)atG>atT	p.M242I	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	242					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AAACTTTTATCATGCAGTGGG	0.478000													10	50					4.68919e-08	5.30373e-08	1	1	0
DPPA4	55211	broad.mit.edu	37	3	109047785	109047785	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:109047785G>T	ENST00000335658.6	-	6	884	c.830C>A	c.(829-831)cCa>cAa	p.P277Q		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	277						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTGCGGGGGTGGAAAATTGGA	0.473000													5	29					0.0215528	0.021996	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157667580	157667580	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:157667580C>G	ENST00000368184.3	-	5	719	c.428G>C	c.(427-429)aGt>aCt	p.S143T	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.S143T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	143	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TAAATTATAACTATTAGGAAG	0.348000													15	114					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61767054	61767054	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:61767054G>A	ENST00000423902.2	+	32	7387	c.6908G>A	c.(6907-6909)aGa>aAa	p.R2303K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2303					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTTCATGAAAGAACATTTGCC	0.443000													8	52					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41063350	41063350	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41063350C>T	ENST00000253801.2	+	5	1060	c.981C>T	c.(979-981)ttC>ttT	p.F327F	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	327			Missing (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTTGTCCTTCTGCAAGAGTG	0.577000													10	117					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95712801	95712801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:95712801C>A	ENST00000524717.1	-	5	4066	c.2782G>T	c.(2782-2784)Gga>Tga	p.G928*		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	928					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G928*(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAACAGATCCAGCTCCAAAA	0.413000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								12	62					5.50884e-06	6.02482e-06	1	1	0
RARRES1	5918	broad.mit.edu	37	3	158428666	158428666	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:158428666G>C	ENST00000237696.5	-	3	676	c.396C>G	c.(394-396)ttC>ttG	p.F132L	RARRES1_ENST00000498640.1_Intron|RARRES1_ENST00000479756.1_Missense_Mutation_p.F132L	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	132					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	TCTGATTCTTGAAAAACACTC	0.428000													48	123					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158059372	158059372	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:158059372G>T	ENST00000368172.1	+	5	579	c.567G>T	c.(565-567)gtG>gtT	p.V189V	KIRREL_ENST00000416935.2_Silent_p.V275V|KIRREL_ENST00000359209.6_Silent_p.V375V|KIRREL_ENST00000368173.3_Silent_p.V391V|KIRREL_ENST00000360089.4_Silent_p.V211V|KIRREL_ENST00000392272.2_Silent_p.V272V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	375	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGCCATCGTGCCTCGAATCG	0.637000													18	36					1.56452e-12	1.84856e-12	1	1	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000													5	11					0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224599169	224599169	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:224599169C>G	ENST00000414423.2	-	7	1311	c.1118G>C	c.(1117-1119)gGa>gCa	p.G373A	WDR26_ENST00000295024.6_Missense_Mutation_p.G226A|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	373						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ATCTTTTGATCCTGTTGCTAG	0.368000													5	68					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675897	100675897	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:100675897C>G	ENST00000306151.4	+	3	1264	c.1200C>G	c.(1198-1200)gtC>gtG	p.V400V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	400	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATATGCCTGTCAGCACCATAT	0.463000													101	235					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36722034	36722034	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:36722034C>G	ENST00000399881.3	+	19	2041	c.2004C>G	c.(2002-2004)acC>acG	p.T668T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	668						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAAACTTCACCACCAGGTAAA	0.403000													25	55					0	0	1	0	0
AMZ2	51321	broad.mit.edu	37	17	66247008	66247008	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:66247008C>G	ENST00000359904.3	+	3	1489	c.357C>G	c.(355-357)ttC>ttG	p.F119L	AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000359783.4_Intron|AMZ2_ENST00000577866.1_Missense_Mutation_p.F119L|AMZ2_ENST00000580753.1_Missense_Mutation_p.F119L|AMZ2_ENST00000577985.1_Missense_Mutation_p.F119L|AMZ2_ENST00000392720.2_Missense_Mutation_p.F119L|AMZ2_ENST00000577273.1_Missense_Mutation_p.F119L	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	119							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGCATATTTCTATGGCTTGA	0.368000													8	59					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245434	46245434	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:46245434T>C	ENST00000334344.6	+	15	3700	c.3528T>C	c.(3526-3528)gtT>gtC	p.V1176V	ARID2_ENST00000422737.1_Silent_p.V1027V|ARID2_ENST00000444670.1_Silent_p.V786V|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1176					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCATAACAGTTGTGCCAAATA	0.478000			"""N, S, F"""		hepatocellular carcinoma								10	76					0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049441	36049441	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:36049441A>G	ENST00000379919.4	-	1	1391	c.835T>C	c.(835-837)Tcc>Ccc	p.S279P	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	279					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CACTCGTAGGAAACCAGAGTC	0.522000													10	80					0	0	1	0	0
C5orf24	134553	broad.mit.edu	37	5	134191113	134191113	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:134191113G>T	ENST00000394976.3	+	2	751	c.523G>T	c.(523-525)Ggg>Tgg	p.G175W	C5orf24_ENST00000435259.2_Missense_Mutation_p.G175W|C5orf24_ENST00000338051.4_Missense_Mutation_p.G175W|C5orf24_ENST00000504727.1_Intron	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	175										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCAGTTCATGGGGTAGAGGA	0.478000													14	49					4.36969e-10	5.07242e-10	1	1	0
KCNB1	3745	broad.mit.edu	37	20	47990502	47990502	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:47990502A>C	ENST00000371741.4	-	2	1761	c.1595T>G	c.(1594-1596)aTg>aGg	p.M532R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	532					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTATTGTACATGTCTTCCAA	0.468000													18	201					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65299062	65299073	+	In_Frame_Del	DEL	CTGCCAGATTCC	CTGCCAGATTCC	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:65299062_65299073delCTGCCAGATTCC	ENST00000377990.2	+	3	1035_1046	c.832_843delCTGCCAGATTCC	c.(832-843)ctgccagattccdel	p.LPDS278del	CEP68_ENST00000546106.1_In_Frame_Del_p.LPDS278del|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_In_Frame_Del_p.LPDS278del	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	278					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGCCTGTGTGCTGCCAGATTCCCTGCCTCCAT	0.594													8	134	---	---	---	---					
NAT8	9027	broad.mit.edu	37	2	73868318	73868337	+	Frame_Shift_Del	DEL	ACTGTCCACAAAGAGATGAA	ACTGTCCACAAAGAGATGAA	-	rs13538	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:73868318_73868337delACTGTCCACAAAGAGATGAA	ENST00000272425.3	-	2	568_587	c.419_438delTTCATCTCTTTGTGGACAGT	c.(418-438)tttcatctctttgtggacagtfs	p.FHLFVDS140fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	140	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	p.V144A(1)|p.L142V(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GACGGTGCTCACTGTCCACAAAGAGATGAAACAGCTGCAA	0.568													8	76	---	---	---	---					
GCC2	9648	broad.mit.edu	37	2	109086923	109086924	+	Frame_Shift_Ins	INS	-	-	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:109086923_109086924insG	ENST00000309863.6	+	6	1852_1853	c.1138_1139insG	c.(1138-1140)cggfs	p.R380fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	380					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTTCATGAACGGGAAGACTTA	0.282													35	78	---	---	---	---					
OR2A12	346525	broad.mit.edu	37	7	143793122	143793127	+	In_Frame_Del	DEL	AGATCA	AGATCA	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:143793122_143793127delAGATCA	ENST00000408949.2	+	1	982_987	c.922_927delAGATCA	c.(922-927)agatcadel	p.RS308del		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R308R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTGGAAACAGAGATCAATGTGAAGAA	0.427													7	141	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130286913	130286925	+	Frame_Shift_Del	DEL	TGGTCCCGATGTC	TGGTCCCGATGTC	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:130286913_130286925delTGGTCCCGATGTC	ENST00000257359.6	-	3	1712_1724	c.1006_1018delGACATCGGGACCA	c.(1006-1020)gacatcgggaccattfs	p.DIGTI336fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	336	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGTCACAAATGGTCCCGATGTCTGCCACACCC	0.601													8	136	---	---	---	---					
RASSF3	283349	broad.mit.edu	37	12	65088574	65088583	+	Frame_Shift_Del	DEL	ATTTCTTGCG	ATTTCTTGCG	-	rs147804503		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:65088574_65088583delATTTCTTGCG	ENST00000542104.1	+	5	719_728	c.599_608delATTTCTTGCG	c.(598-609)aatttcttgcgcfs	p.NFLR200fs	RASSF3_ENST00000336061.2_Frame_Shift_Del_p.NFLR200fs	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	200	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GAACTACAGAATTTCTTGCGCATCTTGGAC	0.481													14	74	---	---	---	---					
CRY1	1407	broad.mit.edu	37	12	107393605	107393606	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:107393605_107393606insT	ENST00000008527.5	-	7	1727_1728	c.860_861insA	c.(859-861)tatfs	p.Y287fs		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	287	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ACAGTTGCCCATAAAGGGAAAG	0.351													19	55	---	---	---	---					
IGHG1	3500	broad.mit.edu	37	14	106208063	106208067	+	RNA	DEL	CTGAC	CTGAC	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:106208063_106208067delCTGAC	ENST00000390548.2	-	0	735_739																											GCAGGTCAGGCTGACCTGGTTCTTG	0.615													8	260	---	---	---	---					
PIPOX	51268	broad.mit.edu	37	17	27380490	27380490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:27380490delC	ENST00000323372.4	+	4	863	c.537delC	c.(535-537)aacfs	p.N179fs	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	179					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TGGAGATAAACCCAGGGCTAC	0.542													7	90	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44248783	44248783	+	Frame_Shift_Del	DEL	G	G	-	rs142096969	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:44248783delG	ENST00000262419.6	-	2	1197	c.727delC	c.(727-729)caafs	p.Q243fs	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.Q243fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.Q243fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.Q243fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.Q243fs	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	243						MLL1 complex	protein binding	p.Q243E(2)									CTGCTTCCTTGAAGTGCCGGC	0.438													12	138	---	---	---	---					
KCNJ16	3773	broad.mit.edu	37	17	68129040	68129055	+	Frame_Shift_Del	DEL	TAGCCAAAGATAACTT	TAGCCAAAGATAACTT	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:68129040_68129055delTAGCCAAAGATAACTT	ENST00000585558.1	+	4	1305_1320	c.917_932delTAGCCAAAGATAACTT	c.(916-933)gtagccaaagataactttfs	p.VAKDNF306fs	KCNJ16_ENST00000589377.1_Frame_Shift_Del_p.VAKDNF271fs|KCNJ16_ENST00000586462.1_Frame_Shift_Del_p.VAKDNF310fs|KCNJ16_ENST00000392670.1_Frame_Shift_Del_p.VAKDNF271fs|KCNJ16_ENST00000392671.1_Frame_Shift_Del_p.VAKDNF271fs|KCNJ16_ENST00000283936.1_Frame_Shift_Del_p.VAKDNF271fs			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	271					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.D274Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CGCAAAGCAGTAGCCAAAGATAACTTTGAGATTTTG	0.449													10	139	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1																						ACCCTGCACAGAAAAAAAGTTG	0.307													2	4	---	---	---	---					
