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
DNM1P46	196968	broad.mit.edu	37	15	100332238	100332238	+	RNA	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:100332238C>T	ENST00000341853.1	-	0	1953					NR_003260.1																						CCAGAGGCAGCGGTCCCAGCC	0.642000													19	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404546	179404546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:179404546G>T	ENST00000589042.1	-	352	98470	c.98246C>A	c.(98245-98247)gCc>gAc	p.A32749D	TTN_ENST00000342175.6_Missense_Mutation_p.A23876D|TTN_ENST00000460472.2_Missense_Mutation_p.A23684D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A30181D|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A23809D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A31108D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31108	Ig-like 145.						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)			TGCAATCATGGCACGCTTACT	0.443000													61	32					3.53049e-34	5.5311e-34	1	1	0
ZPLD1	131368	broad.mit.edu	37	3	102175172	102175172	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr3:102175172T>A	ENST00000306176.1	+	4	611	c.511T>A	c.(511-513)Tgt>Agt	p.C171S	ZPLD1_ENST00000466937.1_Missense_Mutation_p.C155S|ZPLD1_ENST00000491959.1_Missense_Mutation_p.C155S	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	155	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAAATTTAGTTGTAGTTATCC	0.368000													38	104					0	0	1	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760949	119760949	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:119760949G>T	ENST00000304661.5	-	2	311	c.73C>A	c.(73-75)Cta>Ata	p.L25I	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.L25I	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	25						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						ATGTGTCCTAGCATAGTGATC	0.383000													21	111					6.33239e-15	8.50349e-15	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248616419	248616419	+	Silent	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:248616419C>A	ENST00000342927.3	+	1	343	c.321C>A	c.(319-321)acC>acA	p.T107T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T107T(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTACCTGACCCTGATTGGAG	0.547000													89	439					9.27813e-46	1.54167e-45	1	1	0
GABRR3	200959	broad.mit.edu	37	3	97720489	97720489	+	RNA	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr3:97720489G>T	ENST00000472788.1	-	0	878					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						ACAGCTCTTCGGTCAATCCAA	0.408000													10	37					2.74318e-10	3.38017e-10	1	1	0
FLG	2312	broad.mit.edu	37	1	152275965	152275965	+	Silent	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:152275965G>T	ENST00000368799.1	-	3	11432	c.11397C>A	c.(11395-11397)gcC>gcA	p.A3799A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3799	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCATGGGAGGCATCAGACC	0.567000									Ichthyosis				337	580					7.99773e-134	1.3996e-133	1	1	0
SUSD3	203328	broad.mit.edu	37	9	95838183	95838183	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr9:95838183G>T	ENST00000375472.3	+	2	242	c.206G>T	c.(205-207)gGg>gTg	p.G69V	SUSD3_ENST00000375469.1_Missense_Mutation_p.G56V	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	69	Sushi.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CAGATGGTGGGGTCTGGGCTC	0.627000													22	33					6.32553e-13	8.3244e-13	1	1	0
TEX10	54881	broad.mit.edu	37	9	103064573	103064573	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr9:103064573C>T	ENST00000374902.4	-	15	2866	c.2690G>A	c.(2689-2691)gGa>gAa	p.G897E	TEX10_ENST00000477648.1_5'UTR|TEX10_ENST00000535814.1_Missense_Mutation_p.G881E	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	897						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CTGAACACTTCCACTCTTCAA	0.448000													11	31					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532638	84532638	+	RNA	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr9:84532638C>A	ENST00000527857.1	+	0	2660					NR_026851.1																						CCAAATTAAACATCAAAATCT	0.443000													9	22					0.000442599	0.000469726	1	1	0
PAPPA	5069	broad.mit.edu	37	9	119093635	119093635	+	Splice_Site	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr9:119093635G>A	ENST00000328252.3	+	11	3629	c.3261_splice	c.e11+1	p.R1087_splice	PAPPA_ENST00000534838.1_Splice_Site_p.R125_splice	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1087					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						TTTTGGCTCCGGGTAAGCTGA	0.517000													10	17					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767880	31767880	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:31767880C>A	ENST00000240587.4	-	2	3146	c.2819G>T	c.(2818-2820)gGg>gTg	p.G940V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	940					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G757V(1)|p.G940V(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CATGGACAGCCCGGTGAACCT	0.572000													40	22					9.8876e-21	1.43305e-20	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55111380	55111380	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:55111380T>G	ENST00000314721.2	+	1	754	c.704T>G	c.(703-705)cTg>cGg	p.L235R		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CATAAAGCCCTGCCTACCTGC	0.403000													64	83					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14757935	14757935	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr18:14757935G>T	ENST00000358984.4	+	5	919	c.739G>T	c.(739-741)Gct>Tct	p.A247S	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A247S	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	247										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TTATGCTGCTGCTTGTGGAGT	0.378000													4	22					0.150653	0.150653	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101589862	101589862	+	Missense_Mutation	SNP	G	G	A	rs78587240		TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:101589862G>A	ENST00000284395.5	+	24	3704	c.3304G>A	c.(3304-3306)Gac>Aac	p.D1102N	LRRK1_ENST00000388948.3_Missense_Mutation_p.D1105N			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1105					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAATCTTCCGACGTGAACTG	0.512000													14	44					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021868	51021868	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:51021868C>A	ENST00000599957.1	-	3	1299	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.E368*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	368	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGGGCGGCTCCACGATGACG	0.672000													11	41					3.86212e-05	4.19352e-05	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322384	55322384	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:55322384C>A	ENST00000314644.2	+	1	602	c.602C>A	c.(601-603)gCc>gAc	p.A201D		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATGGGGGTAGCCTGGACAGGG	0.473000										HNSCC(20;0.049)			51	88					2.01872e-29	3.11811e-29	1	1	0
KRT222	125113	broad.mit.edu	37	17	38818214	38818214	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr17:38818214C>T	ENST00000476049.1	-	2	220	c.179G>A	c.(178-180)cGc>cAc	p.R60H	KRT222_ENST00000394052.3_Missense_Mutation_p.R60H			Q8N1A0	KT222_HUMAN	keratin 222	60						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						GTGCCACTGGCGTCGGGCCTC	0.463000													64	242					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016273	106016273	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:106016273C>A	ENST00000255499.2	+	2	865	c.615C>A	c.(613-615)caC>caA	p.H205Q	RNF128_ENST00000324342.3_Missense_Mutation_p.H179Q	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	205						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GGGTGAATCACTATTCAATTT	0.388000													50	87					6.34439e-16	8.58973e-16	1	1	0
OR5R1	219479	broad.mit.edu	37	11	56185215	56185215	+	Missense_Mutation	SNP	C	C	T	rs138983419	byFrequency	TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:56185215C>T	ENST00000312253.1	-	1	493	c.494G>A	c.(493-495)cGt>cAt	p.R165H		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTAAGTCAGACGGAAAGTGAT	0.438000													60	114					0	0	1	0	0
GJB7	375519	broad.mit.edu	37	6	87994435	87994435	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:87994435C>G	ENST00000525899.1	-	3	541	c.196G>C	c.(196-198)Gat>Cat	p.D66H	GJB7_ENST00000296882.3_Missense_Mutation_p.D66H	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	66					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		AAGAAGTCATCAAAACACACA	0.458000													38	55					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124184	12124184	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:12124184A>T	ENST00000379388.2	+	4	4488	c.4156A>T	c.(4156-4158)Aaa>Taa	p.K1386*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1386					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCTCAGAAGCAAATCATTCGA	0.488000													44	133					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105836714	105836714	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:105836714G>A	ENST00000393127.2	+	15	2781	c.2335G>A	c.(2335-2337)Ggc>Agc	p.G779S	GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000525187.1_Missense_Mutation_p.G779S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	779					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GAATGAACAAGGCCTCTTGGA	0.413000													25	32					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154225368	154225368	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:154225368G>A	ENST00000360256.4	-	3	468	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	90	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGACCTAGCAGACCTGTAAGA	0.448000													88	166					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65417597	65417597	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:65417597C>G	ENST00000519389.1	+	10	1915	c.1736C>G	c.(1735-1737)gCc>gGc	p.A579G	HEPH_ENST00000336279.5_Missense_Mutation_p.A258G|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.A528G|HEPH_ENST00000343002.2_Missense_Mutation_p.A525G|HEPH_ENST00000374727.3_Missense_Mutation_p.A528G			Q9BQS7	HEPH_HUMAN	hephaestin	525	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCCCTCATGCCGGTCCCACT	0.527000													20	52					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124438299	124438299	+	Silent	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr3:124438299G>T	ENST00000360013.3	+	60	9070	c.8943G>T	c.(8941-8943)cgG>cgT	p.R2981R	KALRN_ENST00000428018.2_Silent_p.R1252R|KALRN_ENST00000291478.4_Silent_p.R1284R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2980					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						TTGTCAACCGGGTGAACCAAG	0.502000													24	33					1.85244e-09	2.23243e-09	1	1	0
LBX1	10660	broad.mit.edu	37	10	102987484	102987484	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr10:102987484G>A	ENST00000370193.2	-	2	1367	c.389C>T	c.(388-390)aCg>aTg	p.T130M		NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	130					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GGTGAAGGCCGTGCGCGACTT	0.592000													27	70					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79128476	79128476	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:79128476G>T	ENST00000370747.4	+	8	1286	c.1201G>T	c.(1201-1203)Gta>Tta	p.V401L	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	401					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GCTGGACCCTGTAAAGGATGT	0.433000													60	48					6.3091e-27	9.47806e-27	1	1	0
MT1JP	4498	broad.mit.edu	37	16	56669707	56669707	+	RNA	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr16:56669707C>A	ENST00000564564.1	+	0	33																											CGCTTGAGATCTCCAGCCTTA	0.617000													21	61					9.95505e-16	1.3423e-15	1	1	0
NUAK1	9891	broad.mit.edu	37	12	106480600	106480600	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:106480600T>C	ENST00000261402.2	-	3	1804	c.425A>G	c.(424-426)gAt>gGt	p.D142G		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	142	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						ACTGATGTAATCGTACAGCTC	0.507000													27	92					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681285	55681285	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:55681285C>T	ENST00000344514.1	-	1	773	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCCGGAAATACATAAAGAGCA	0.443000													20	69					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435441	7435441	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr4:7435441G>A	ENST00000319098.4	-	1	1259	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	389					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CTGGTTCTCCGCGTCCCACTC	0.622000													22	64					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913876	77913876	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:77913876C>A	ENST00000321110.1	-	2	337	c.42G>T	c.(40-42)ttG>ttT	p.L14F		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	14							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTCATTCTCCAATTTCAGAA	0.478000													21	20					1.01871e-10	1.27436e-10	1	1	0
SLCO3A1	28232	broad.mit.edu	37	15	92459521	92459521	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:92459521G>C	ENST00000318445.6	+	2	693	c.479G>C	c.(478-480)gGg>gCg	p.G160A	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G160A	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	160					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCGACGAGGGGCCCGACCCC	0.682000													7	5					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66217219	66217219	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr4:66217219C>A	ENST00000273854.3	-	14	2996	c.2396G>T	c.(2395-2397)aGa>aTa	p.R799I	EPHA5_ENST00000432638.2_Missense_Mutation_p.R636I|EPHA5_ENST00000354839.4_Missense_Mutation_p.R777I|EPHA5_ENST00000511294.1_Missense_Mutation_p.R800I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	799	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGCAAGATCTCTATGCACATA	0.473000										TSP Lung(17;0.13)			44	41					4.44401e-20	6.41263e-20	1	1	0
CUX2	23316	broad.mit.edu	37	12	111733214	111733214	+	Splice_Site	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:111733214G>T	ENST00000261726.6	+	7	791		c.e7+1			NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2							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						CTACATTCAGGTATGTGTCGG	0.572000													4	26					0.00909568	0.00932236	1	1	0
KIF18A	81930	broad.mit.edu	37	11	28090929	28090929	+	Silent	SNP	A	A	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:28090929A>G	ENST00000263181.6	-	11	1757	c.1467T>C	c.(1465-1467)acT>acC	p.T489T		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	489					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AGGAGCGACGAGTTTTCAACA	0.373000													20	74					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50250707	50250707	+	Missense_Mutation	SNP	C	C	A	rs142504069		TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:50250707C>A	ENST00000246801.3	-	5	684	c.602G>T	c.(601-603)cGg>cTg	p.R201L		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	201							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTCCACAGACCGGGTCACCTT	0.567000													16	51					0.000308642	0.000328619	1	1	0
EIF5A2	56648	broad.mit.edu	37	3	170625555	170625555	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr3:170625555G>T	ENST00000295822.2	-	2	226	c.41C>A	c.(40-42)gCt>gAt	p.A14D	EIF5A2_ENST00000474096.1_Missense_Mutation_p.A14D|EIF5A2_ENST00000460117.1_Intron|EIF5A2_ENST00000487522.1_Missense_Mutation_p.A14D	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	14					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			AGTGCTGGAAGCCCCGGCATC	0.493000													33	96					4.3181e-19	6.12351e-19	1	1	0
KIF18A	81930	broad.mit.edu	37	11	28090928	28090928	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:28090928G>A	ENST00000263181.6	-	11	1758	c.1468C>T	c.(1468-1470)Cgt>Tgt	p.R490C		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	490					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TAGGAGCGACGAGTTTTCAAC	0.378000													20	73					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61309061	61309061	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr18:61309061G>T	ENST00000341074.5	-	4	399	c.284C>A	c.(283-285)tCc>tAc	p.S95Y	SERPINB4_ENST00000356424.6_Missense_Mutation_p.S95Y	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGCATCAGTGGATTTGTTGAA	0.388000													41	128					1.48734e-19	2.12754e-19	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29604292	29604292	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:29604292T>C	ENST00000318184.5	-	22	2740	c.2741A>G	c.(2740-2742)aAg>aGg	p.K914R	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	914	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CGTCTTTCTCTTACTGTGTCT	0.428000													17	32					0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67231937	67231937	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr16:67231937C>T	ENST00000379378.3	+	10	1212	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	385	Transactivation (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TCGTCTTTCTCCACCCCCGGG	0.582000											OREG0023875	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	163					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937088	15937088	+	Silent	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr5:15937088G>T	ENST00000504595.1	+	4	1750	c.1269G>T	c.(1267-1269)ctG>ctT	p.L423L	FBXL7_ENST00000510662.1_Silent_p.L376L|FBXL7_ENST00000329673.7_Silent_p.L411L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	423					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGAGTGCCTGGCCCTGAACT	0.597000													13	46					4.3838e-07	4.92242e-07	1	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092388	151092388	+	Silent	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:151092388C>A	ENST00000370340.3	+	3	519	c.252C>A	c.(250-252)ccC>ccA	p.P84P	MAGEA4_ENST00000276344.2_Silent_p.P84P|MAGEA4_ENST00000393920.1_Silent_p.P84P|MAGEA4_ENST00000393921.1_Silent_p.P84P|MAGEA4_ENST00000370335.1_Silent_p.P84P|MAGEA4_ENST00000370337.4_Silent_p.P84P|MAGEA4_ENST00000360243.2_Silent_p.P84P			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	84							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCAACCCAATGAGGGTT	0.582000													78	105					6.09464e-36	9.64007e-36	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38438444	38438444	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr5:38438444C>A	ENST00000322350.5	+	17	2697	c.2351C>A	c.(2350-2352)gCg>gAg	p.A784E	EGFLAM_ENST00000397202.2_Missense_Mutation_p.A150E|EGFLAM_ENST00000336740.6_Missense_Mutation_p.A550E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.A784E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	784	EGF-like 3.|Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTGGAGAATGCGGCCCACCCC	0.547000													8	64					0.00448238	0.00466678	1	1	0
WFDC5	149708	broad.mit.edu	37	20	43739178	43739178	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr20:43739178T>A	ENST00000307971.4	-	3	308	c.230A>T	c.(229-231)aAg>aTg	p.K77M	WFDC5_ENST00000372789.4_Missense_Mutation_p.K77M			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	77	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GCTGCCCAGCTTCACTGCAAC	0.607000													11	8					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69339786	69339786	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:69339786C>T	ENST00000260364.5	+	13	1973	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	NOX5_ENST00000388866.3_Missense_Mutation_p.R576C|NOX5_ENST00000455873.3_Missense_Mutation_p.R541C|NOX5_ENST00000448182.3_Missense_Mutation_p.R530C|NOX5_ENST00000530406.2_Missense_Mutation_p.R548C|NOX5_ENST00000525163.1_3'UTR			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	576	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GACCCCCACCCGCAGGATCTT	0.587000													40	41					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932773	83932773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:83932773G>T	ENST00000345382.2	-	4	1315	c.1230C>A	c.(1228-1230)aaC>aaA	p.N410K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.N403K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	410					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCAGCCGAGGGTTGGGGTTGG	0.532000													72	61					1.34568e-36	2.13878e-36	1	1	0
WIPF1	7456	broad.mit.edu	37	2	175436603	175436603	+	Silent	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:175436603C>G	ENST00000392547.2	-	5	1029	c.930G>C	c.(928-930)ccG>ccC	p.P310P	AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Silent_p.P310P|WIPF1_ENST00000392546.2_Silent_p.P310P|WIPF1_ENST00000272746.5_Silent_p.P310P|WIPF1_ENST00000409415.3_Silent_p.P310P|WIPF1_ENST00000409891.1_Silent_p.P310P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	310	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGGGAGGTGGCGGCGGAGGTG	0.657000													8	23					0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41196206	41196206	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:41196206G>T	ENST00000341495.2	+	1	145	c.41G>T	c.(40-42)tGc>tTc	p.C14F	TREML4_ENST00000448827.2_Missense_Mutation_p.C14F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	14	Cys-rich.					extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTCCACCTGTGCTGCTGCTGC	0.597000													4	24					0.00024832	0.000265251	1	1	0
FAM66D	100132923	broad.mit.edu	37	8	11985737	11985737	+	RNA	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr8:11985737G>C	ENST00000434078.2	+	0	608					NR_027425.1																						AGTGATACCAGAGGCAGTGAC	0.483000													9	25					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920092	10920092	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr21:10920092G>C	ENST00000298232.7	-	18	1475	c.1108C>G	c.(1108-1110)Cct>Gct	p.P370A	TPTE_ENST00000361285.4_Missense_Mutation_p.P388A|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.P350A	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	388	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCTGAGAAGGAGTTTTTACT	0.378000													15	52					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65270045	65270045	+	RNA	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:65270045G>A	ENST00000534336.1	+	0	4813					NR_002819.2																						AGTTCAGCTTGAATGTCTCTT	0.313000													19	33					0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120099733	120099733	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:120099733G>A	ENST00000328965.4	+	4	1217	c.704G>A	c.(703-705)cGc>cAc	p.R235H	OAF_ENST00000531220.1_Missense_Mutation_p.R119H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	235										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		TGCCACAGCCGCGACCGGCCC	0.652000													20	53					0	0	1	0	0
PRSS53	339105	broad.mit.edu	37	16	31098019	31098019	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr16:31098019G>A	ENST00000280606.6	-	4	596	c.443C>T	c.(442-444)cCc>cTc	p.P148L		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	148	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						GCGATGGGCGGGCTGGGGCAG	0.657000													30	30					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65237697	65237697	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr14:65237697T>G	ENST00000389722.3	-	26	5757	c.5704A>C	c.(5704-5706)Acg>Ccg	p.T1902P	SPTB_ENST00000556626.1_Missense_Mutation_p.T1902P|SPTB_ENST00000389720.3_Missense_Mutation_p.T1902P|SPTB_ENST00000389721.5_Missense_Mutation_p.T1902P|SPTB_ENST00000542895.1_Missense_Mutation_p.T1902P	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1902					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTATCCGCCGTGTCCACTAGC	0.642000													51	38					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75805309	75805309	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:75805309G>T	ENST00000370855.5	-	4	172	c.59C>A	c.(58-60)cCa>cAa	p.P20Q	SLC44A5_ENST00000370859.3_Missense_Mutation_p.P20Q|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	20						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATATGTCCTTGGATCACCTGC	0.328000													127	102					5.97981e-71	1.03545e-70	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48630794	48630794	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr3:48630794G>T	ENST00000328333.8	-	4	622	c.515C>A	c.(514-516)gCt>gAt	p.A172D	COL7A1_ENST00000454817.1_Missense_Mutation_p.A172D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	172	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTACCCACAGCAAATAGCTT	0.607000													99	105					9.98844e-40	1.61088e-39	1	1	0
FAM198B	51313	broad.mit.edu	37	4	159076892	159076892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr4:159076892C>T	ENST00000296530.8	-	3	1617	c.996G>A	c.(994-996)tgG>tgA	p.W332*	FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Nonsense_Mutation_p.W340*|FAM198B_ENST00000585682.1_Nonsense_Mutation_p.W332*	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	332						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GATAAGTTCCCCAGGTGAGCT	0.458000													25	55					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42037883	42037883	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr8:42037883G>T	ENST00000220809.4	-	11	1355	c.1099C>A	c.(1099-1101)Cac>Aac	p.H367N	PLAT_ENST00000519510.1_Missense_Mutation_p.H304N|PLAT_ENST00000352041.3_Missense_Mutation_p.H321N|PLAT_ENST00000429710.2_Missense_Mutation_p.H241N|PLAT_ENST00000429089.2_Missense_Mutation_p.H367N|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Missense_Mutation_p.H278N	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	367	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCGTCAGGTGGTGGGGCGGA	0.488000													361	116					6.77859e-157	1.1926e-156	1	1	0
CDH18	1016	broad.mit.edu	37	5	19571779	19571779	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr5:19571779A>T	ENST00000507958.1	-	10	2152	c.1162T>A	c.(1162-1164)Tac>Aac	p.Y388N	CDH18_ENST00000274170.4_Missense_Mutation_p.Y388N|CDH18_ENST00000506372.1_Missense_Mutation_p.Y388N|CDH18_ENST00000382275.1_Missense_Mutation_p.Y388N|CDH18_ENST00000502796.1_Missense_Mutation_p.Y388N|CDH18_ENST00000511273.1_Missense_Mutation_p.Y388N			Q13634	CAD18_HUMAN	cadherin 18, type 2	388	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCATGAGGTAGGAAGGCATG	0.428000													17	88					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100339851	100339851	+	RNA	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:100339851C>G	ENST00000341853.1	-	0	1075					NR_003260.1																						AGCTAGGCGTCGTCCACGGGC	0.637000													15	12					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70972972	70972972	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:70972972C>A	ENST00000357250.6	-	19	1528	c.1370G>T	c.(1369-1371)gGa>gTa	p.G457V	COL9A1_ENST00000370499.4_Missense_Mutation_p.G214V|COL9A1_ENST00000320755.7_Missense_Mutation_p.G214V|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	457	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G214A(1)|p.G457A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCAACTTCTCCGAGTTCTCC	0.328000													11	3					7.03913e-09	8.24154e-09	1	1	0
PTPRA	5786	broad.mit.edu	37	20	3016330	3016330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr20:3016330C>T	ENST00000216877.6	+	20	2393	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	PTPRA_ENST00000399903.2_Nonsense_Mutation_p.R674*|PTPRA_ENST00000380393.3_Nonsense_Mutation_p.R674*|PTPRA_ENST00000356147.3_Nonsense_Mutation_p.R665*|PTPRA_ENST00000358719.4_Nonsense_Mutation_p.R530*|PTPRA_ENST00000425918.2_Nonsense_Mutation_p.R685*|PTPRA_ENST00000318266.5_Nonsense_Mutation_p.R665*	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	674	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTACACCGTCCGAGACCTCCT	0.547000													15	40					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16506809	16506809	+	Silent	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr20:16506809G>C	ENST00000354981.2	-	3	316	c.159C>G	c.(157-159)acC>acG	p.T53T	KIF16B_ENST00000355755.3_Silent_p.T53T|KIF16B_ENST00000408042.1_Silent_p.T53T|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	53	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGAAGGTCTTGGTCCGTTCTC	0.353000													23	145					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440315	99440315	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr8:99440315G>A	ENST00000287042.4	+	2	458	c.108G>A	c.(106-108)ctG>ctA	p.L36L	KCNS2_ENST00000521839.1_Silent_p.L36L	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	36						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACACGCTGCTGCGCTTCCCCG	0.662000													16	85					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112681680	112681680	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:112681680C>G	ENST00000550722.1	-	30	4604	c.4209G>C	c.(4207-4209)caG>caC	p.Q1403H	HECTD4_ENST00000430131.2_Missense_Mutation_p.Q1127H|HECTD4_ENST00000377560.5_Missense_Mutation_p.Q1377H	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CCATTTACCTCTGATTTGCTC	0.473000													83	70					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120673433	120673433	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:120673433C>A	ENST00000527524.2	+	4	401	c.114C>A	c.(112-114)agC>agA	p.S38R	GRIK4_ENST00000438375.2_Missense_Mutation_p.S38R			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	38					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TGGAGTGCAGCAGAGGGGAGC	0.592000											OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	119					1.01871e-10	1.27436e-10	1	1	0
TTN	7273	broad.mit.edu	37	2	179430399	179430399	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:179430399C>A	ENST00000589042.1	-	326	80684	c.80460G>T	c.(80458-80460)caG>caT	p.Q26820H	TTN_ENST00000342175.6_Missense_Mutation_p.Q17947H|TTN_ENST00000460472.2_Missense_Mutation_p.Q17755H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q24252H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q17880H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q25179H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25179	Fibronectin type-III 95.						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)			TTCCTTTGGGCTGCATTTCAA	0.458000													44	185					5.20837e-25	7.6841e-25	1	1	0
GJB7	375519	broad.mit.edu	37	6	87994037	87994037	+	Silent	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:87994037C>T	ENST00000525899.1	-	3	939	c.594G>A	c.(592-594)ctG>ctA	p.L198L	GJB7_ENST00000296882.3_Silent_p.L198L	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	198					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CCAAAAAACTCAGTTCAATGA	0.403000													23	42					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240960828	240960828	+	Splice_Site	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:240960828G>A	ENST00000252711.2	-	3	346	c.244_splice	c.e3-1	p.G82_splice	NDUFA10_ENST00000307300.4_Splice_Site_p.G82_splice|NDUFA10_ENST00000407129.3_Splice_Site_p.G82_splice|NDUFA10_ENST00000404554.1_Splice_Site_p.G82_splice	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	82					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AGTGCTTGAAGCCTGAAAAGA	0.532000											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	38					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429858	57429858	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr20:57429858C>A	ENST00000371100.4	+	1	2090	c.1538C>A	c.(1537-1539)gCg>gAg	p.A513E	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.R450R|GNAS_ENST00000371099.2_Missense_Mutation_p.A513E|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.A513E|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTCCGCCGGGCGGCCTCTGCA	0.731000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	4					0.150653	0.150653	1	1	0
SALL1	6299	broad.mit.edu	37	16	51175458	51175458	+	Silent	SNP	G	G	A	rs144398338		TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr16:51175458G>A	ENST00000440970.1	-	2	815	c.384C>T	c.(382-384)gcC>gcT	p.A128A	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.A225A|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	225					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGCTGGGACGGCCAGCTTGC	0.587000													56	50					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168635	142168635	+	RNA	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:142168635G>T	ENST00000454561.2	-	0	288																											GTTTTGATCAGGTGTGTGGGA	0.567000													6	131					0.00621372	0.00642866	1	1	0
CRYGD	1421	broad.mit.edu	37	2	208988855	208988855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:208988855G>T	ENST00000264376.4	-	2	260	c.233C>A	c.(232-234)tCc>tAc	p.S78Y		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	78	Beta/gamma crystallin 'Greek key' 2.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAGGCGGCAGGAGCGGACCGA	0.582000													8	37					0.00448238	0.00466678	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20625835	20625835	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:20625835G>T	ENST00000525748.1	+	3	817	c.544G>T	c.(544-546)Gac>Tac	p.D182Y		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	182					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCCCCAGGAGGACGAGCAAGG	0.612000													57	80					6.3237e-29	9.67673e-29	1	1	0
CDHR2	54825	broad.mit.edu	37	5	175998229	175998229	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr5:175998229C>A	ENST00000510636.1	+	6	605	c.331C>A	c.(331-333)Ctg>Atg	p.L111M	CDHR2_ENST00000261944.5_Missense_Mutation_p.L111M|CDHR2_ENST00000506348.1_Missense_Mutation_p.L111M	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	111	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GAGGGAGATGCTGGTGATTGT	0.488000													7	24					0.000157383	0.000169213	1	1	0
KRT18	3875	broad.mit.edu	37	12	53345995	53345995	+	Silent	SNP	A	A	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:53345995A>C	ENST00000550600.1	+	7	1095	c.1041A>C	c.(1039-1041)tcA>tcC	p.S347S	KRT18_ENST00000388835.3_Silent_p.S347S|KRT18_ENST00000388837.2_Silent_p.S347S			P05783	K1C18_HUMAN	keratin 18	347	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACCTTGAGTCAGAGCTGGCAC	0.632000													3	11					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567066	142567066	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr3:142567066G>C	ENST00000295992.3	-	3	747	c.441C>G	c.(439-441)aaC>aaG	p.N147K	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.N147K	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	147						extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TACCTCTTTCGTTTGGTTCAG	0.438000													22	58					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88535152	88535152	+	Silent	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr4:88535152T>C	ENST00000399271.1	+	5	1458	c.1338T>C	c.(1336-1338)aaT>aaC	p.N446N	DSPP_ENST00000282478.7_Silent_p.N446N|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	446	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GTGACAGCAATAGTGATGGAT	0.398000													54	30					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676265	37676265	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:37676265T>G	ENST00000532828.2	-	5	2425	c.2174A>C	c.(2173-2175)aAg>aCg	p.K725T	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.K670T|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.K313T	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTAAAGGCCTTCCCACACTC	0.463000													29	79					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90168846	90168846	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:90168846G>C	ENST00000268138.7	+	20	5410	c.5305G>C	c.(5305-5307)Ggg>Cgg	p.G1769R	TICRR_ENST00000560985.1_Missense_Mutation_p.G1768R|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		GGGACAGTTTGGGTTGAGTTC	0.547000													19	40					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94197402	94197402	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:94197402C>A	ENST00000323929.3	-	11	1324	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y	MRE11A_ENST00000407439.3_Missense_Mutation_p.D371Y|MRE11A_ENST00000323977.3_Missense_Mutation_p.D368Y|MRE11A_ENST00000393241.4_Missense_Mutation_p.D368Y	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	368					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CCACTATAGTCCACCTGAAAA	0.368000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				30	46					1.68575e-08	1.95976e-08	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26286167	26286167	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr10:26286167G>T	ENST00000265944.5	+	6	654	c.488G>T	c.(487-489)gGa>gTa	p.G163V	MYO3A_ENST00000376302.1_Missense_Mutation_p.G163V|MYO3A_ENST00000376301.1_Missense_Mutation_p.G163V|MYO3A_ENST00000543632.1_Missense_Mutation_p.G163V	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	163	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACGGAAGGTGGAGTGAAACTA	0.323000													4	25					0.000602214	0.000637069	1	1	0
NRP2	8828	broad.mit.edu	37	2	206659768	206659768	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:206659768T>C	ENST00000360409.3	+	17	3573	c.2782T>C	c.(2782-2784)Tgc>Cgc	p.C928R	NRP2_ENST00000412873.2_Missense_Mutation_p.C906R|NRP2_ENST00000540841.1_Missense_Mutation_p.C906R|NRP2_ENST00000540178.1_Missense_Mutation_p.C923R|NRP2_ENST00000357785.5_Missense_Mutation_p.C923R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	928					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCAAAAGTGCTGCTCCGAGGC	0.498000													5	32					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84517838	84517838	+	RNA	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:84517838C>A	ENST00000331369.5	+	0	32																											ATGGAAACATCTGCCCCACGT	0.667000													4	7					0.00024832	0.000265251	1	1	0
BNC1	646	broad.mit.edu	37	15	83932526	83932526	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:83932526G>T	ENST00000345382.2	-	4	1562	c.1477C>A	c.(1477-1479)Cgc>Agc	p.R493S	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R486S	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	493					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCTGGACTGCGGTAGAAAGGA	0.532000													22	50					8.10497e-08	9.35627e-08	1	1	0
CCDC74A	90557	broad.mit.edu	37	2	132288322	132288322	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:132288322A>C	ENST00000467992.2	+	1	1086	c.772A>C	c.(772-774)Agc>Cgc	p.S258R	CCDC74A_ENST00000295171.6_Missense_Mutation_p.S156R|CCDC74A_ENST00000409856.3_Intron			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	156										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGCGGGCGGTAGCGCCGACAC	0.627000													43	63					0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167023628	167023628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:167023628G>T	ENST00000367868.3	-	7	1246	c.903C>A	c.(901-903)taC>taA	p.Y301*	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	301						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTTCTTGCCTGTAGTCATCCT	0.617000													51	108					7.77372e-23	1.14177e-22	1	1	0
HIST1H4D	8360	broad.mit.edu	37	6	26189028	26189028	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:26189028G>T	ENST00000340756.2	-	1	276	c.277C>A	c.(277-279)Cgc>Agc	p.R93S		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	93					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CGTCCCTGGCGCTTGAGCGCG	0.547000													49	65					1.33152e-38	2.12656e-38	1	1	0
CDH12	1010	broad.mit.edu	37	5	21752203	21752203	+	Silent	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr5:21752203C>A	ENST00000382254.1	-	15	3114	c.2028G>T	c.(2026-2028)ggG>ggT	p.G676G	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Silent_p.G676G|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Silent_p.G636G	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	676					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTCAGAGCCCCGATGTCGA	0.468000										HNSCC(59;0.17)			28	78					1.42536e-11	1.81761e-11	1	1	0
TPTE2	93492	broad.mit.edu	37	13	20048088	20048088	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr13:20048088G>T	ENST00000400230.2	-	6	402	c.358C>A	c.(358-360)Ctc>Atc	p.L120I	TPTE2_ENST00000382977.4_Missense_Mutation_p.L120I|TPTE2_ENST00000382975.4_Missense_Mutation_p.L120I|TPTE2_ENST00000382978.1_Missense_Mutation_p.L120I|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.L83I|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.L83I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	120						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACATCCATGAGAAAAAATAAG	0.348000													22	35					2.37509e-13	3.13817e-13	1	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65208998	65208998	+	Silent	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr14:65208998C>A	ENST00000247226.7	+	14	2903	c.2595C>A	c.(2593-2595)cgC>cgA	p.R865R	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Silent_p.R426R|PLEKHG3_ENST00000471182.2_Silent_p.R454R|PLEKHG3_ENST00000394691.1_Silent_p.R921R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	921					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGAGCGAGCGCGTCAAGAACA	0.627000													14	44					1.05317e-09	1.27387e-09	1	1	0
TAF1C	9013	broad.mit.edu	37	16	84215048	84215048	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr16:84215048G>T	ENST00000567759.1	-	10	1310	c.1128C>A	c.(1126-1128)gaC>gaA	p.D376E	TAF1C_ENST00000566732.1_Missense_Mutation_p.D350E|TAF1C_ENST00000570117.1_Missense_Mutation_p.D44E|TAF1C_ENST00000378541.4_Missense_Mutation_p.D376E|TAF1C_ENST00000341690.6_Missense_Mutation_p.D283E|TAF1C_ENST00000541676.1_Missense_Mutation_p.D283E	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	376					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGGTCTCAGGGTCCCTGTAGA	0.647000													8	15					0.00448238	0.00466678	1	1	0
FAM96A	84191	broad.mit.edu	37	15	64385863	64385863	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:64385863C>A	ENST00000557835.1	-	1	131	c.105G>T	c.(103-105)gaG>gaT	p.E35D	FAM96A_ENST00000300030.3_Missense_Mutation_p.E35D|FAM96A_ENST00000559950.1_Missense_Mutation_p.E35D|FAM96A_ENST00000380290.3_Missense_Mutation_p.E35D			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	35					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CTAGCGCTTTCTCTTCCATGA	0.602000													19	66					2.4624e-09	2.91413e-09	1	1	0
AHI1	54806	broad.mit.edu	37	6	135769452	135769452	+	Silent	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:135769452T>A	ENST00000367800.4	-	10	1818	c.1602A>T	c.(1600-1602)gtA>gtT	p.V534V	AHI1_ENST00000327035.6_Silent_p.V534V|AHI1_ENST00000457866.2_Silent_p.V534V	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	534						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCAGTCCTCTTACAGTTACGT	0.363000													10	6					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128850937	128850937	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:128850937C>T	ENST00000249373.3	+	10	2064	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	595					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACACTGTGTCCCACGACGGG	0.647000			Mis		skin basal cell								39	169					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451153	55451153	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:55451153C>T	ENST00000446217.1	-	6	1520	c.1118G>A	c.(1117-1119)cGt>cAt	p.R373H	NLRP7_ENST00000340844.2_Missense_Mutation_p.R345H|NLRP7_ENST00000448121.2_Missense_Mutation_p.R345H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R345H|NLRP7_ENST00000590030.1_Missense_Mutation_p.R345H|NLRP7_ENST00000328092.5_Missense_Mutation_p.R345H|NLRP7_ENST00000588756.1_Missense_Mutation_p.R345H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	345	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTCAAAGGCACGCATGGCTTG	0.612000													4	49					0	0	1	0	0
CCNA2	890	broad.mit.edu	37	4	122739316	122739316	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr4:122739316C>T	ENST00000274026.5	-	7	1436	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	378					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TCCAGTCTTTCGTATTAATGA	0.413000													10	124					0	0	1	0	0
DLX2	1746	broad.mit.edu	37	2	172967031	172967031	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:172967031C>G	ENST00000234198.4	-	1	597	c.236G>C	c.(235-237)gGc>gCc	p.G79A	DLX2_ENST00000466293.2_Missense_Mutation_p.G79A	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	79	Poly-Gly.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CGAgcccccgccgccgccgcc	0.677000													11	4					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55578970	55578970	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:55578970G>A	ENST00000333973.2	+	1	117	c.28G>A	c.(28-30)Gct>Act	p.A10T		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACCACTGTGGCTGAGTTCAT	0.403000													106	163					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53436075	53436075	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:53436075C>T	ENST00000322213.4	-	9	1590	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SMC1A_ENST00000375340.6_Missense_Mutation_p.R254H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	488					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCGGTCGATGCGGGCATCCCC	0.567000													18	75					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75805310	75805310	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:75805310G>T	ENST00000370855.5	-	4	171	c.58C>A	c.(58-60)Cca>Aca	p.P20T	SLC44A5_ENST00000370859.3_Missense_Mutation_p.P20T|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	20						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TATGTCCTTGGATCACCTGCA	0.328000													126	102					7.7863e-71	1.3412e-70	1	1	0
CCDC73	493860	broad.mit.edu	37	11	32636068	32636068	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:32636068T>C	ENST00000335185.5	-	16	1839	c.1796A>G	c.(1795-1797)gAg>gGg	p.E599G		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	599										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTGAATGGCTCATTTTCAGA	0.338000													24	31					0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32049124	32049124	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:32049124G>A	ENST00000271064.7	+	5	606	c.530G>A	c.(529-531)cGc>cAc	p.R177H	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.R146H	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	177					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)		ATTCGCTACCGCCTGGGCACC	0.572000													9	26					0	0	1	0	0
MBIP	51562	broad.mit.edu	37	14	36783723	36783723	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr14:36783723T>C	ENST00000416007.4	-	4	653	c.566A>G	c.(565-567)aAt>aGt	p.N189S	MBIP_ENST00000359527.7_Missense_Mutation_p.N189S|MBIP_ENST00000318473.7_Missense_Mutation_p.N189S	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	189	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GTTACCTTGATTACAATCAAT	0.279000													3	23					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688743	60688743	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:60688743G>A	ENST00000335712.6	-	4	1531	c.1304C>T	c.(1303-1305)aCg>aTg	p.T435M	BCL11A_ENST00000537768.1_Missense_Mutation_p.T104M|BCL11A_ENST00000538214.1_Missense_Mutation_p.T401M|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.T401M|BCL11A_ENST00000356842.4_Missense_Mutation_p.T435M|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	435					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGACTTGACCGTCATGGGGGA	0.652000			T	IGH@	B-CLL								21	128					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39545895	39545895	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:39545895T>A	ENST00000287152.7	-	10	1212	c.1118A>T	c.(1117-1119)gAt>gTt	p.D373V	KIF6_ENST00000373213.4_Missense_Mutation_p.D212V|KIF6_ENST00000373216.3_Missense_Mutation_p.D373V|KIF6_ENST00000373215.3_Missense_Mutation_p.D373V|KIF6_ENST00000538893.1_Missense_Mutation_p.D373V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	373					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGCCAGTTCATCCTTCAGTTC	0.438000													21	134					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363131	84363131	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:84363131T>G	ENST00000509231.1	-	1	923	c.844A>C	c.(844-846)Agc>Cgc	p.S282R	SATL1_ENST00000395409.3_Missense_Mutation_p.S95R|SATL1_ENST00000332921.5_Missense_Mutation_p.S95R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	95	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TCATATAGGCTTGCACTCCAT	0.433000													38	181					0	0	1	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6797490	6797490	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:6797490G>T	ENST00000403107.1	+	2	569	c.182G>T	c.(181-183)cGc>cTc	p.R61L	RSPH10B2_ENST00000404077.1_Missense_Mutation_p.R61L|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.R61L|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.R61L					radial spoke head 10 homolog B2 (Chlamydomonas)									p.R61H(2)		breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						AAAAAAGACCGCCAAAACGTT	0.483000													88	157					6.99195e-59	1.19189e-58	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77651607	77651607	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr3:77651607G>T	ENST00000461745.1	+	20	4001	c.3101G>T	c.(3100-3102)gGt>gTt	p.G1034V	ROBO2_ENST00000487694.3_Missense_Mutation_p.G1050V|ROBO2_ENST00000332191.8_Missense_Mutation_p.G1034V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1034					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGGGATTTGGTTATTCTCTA	0.398000													22	64					2.37509e-13	3.13817e-13	1	1	0
CT47B1	643311	broad.mit.edu	37	X	120009289	120009289	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:120009289C>G	ENST00000371311.3	-	1	490	c.236G>C	c.(235-237)gGg>gCg	p.G79A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	79										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTCGGCGCTCCCGCCCTGGGG	0.721000													28	33					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47237990	47237990	+	Silent	SNP	C	C	T	rs138230946	byFrequency	TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr17:47237990C>T	ENST00000300404.2	+	7	992	c.933C>T	c.(931-933)taC>taT	p.Y311Y	B4GALNT2_ENST00000504681.1_Silent_p.Y225Y|B4GALNT2_ENST00000393354.2_Silent_p.Y251Y	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	311					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAAGCTATACGACCCTGGAC	0.542000													69	273					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	1006607	1006607	+	Silent	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:1006607C>T	ENST00000448903.2	+	17	2427	c.2286C>T	c.(2284-2286)gaC>gaT	p.D762D	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.D763D|AP2A2_ENST00000525891.1_3'UTR	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	762					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTTCAGACGACCTTCAGCCTA	0.418000													14	72					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101961	69101961	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr4:69101961C>A	ENST00000332644.5	-	3	309	c.148G>T	c.(148-150)Gat>Tat	p.D50Y		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	50	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ATATGAAAATCACCTTGATAA	0.328000													9	8					0.00448238	0.00466678	1	1	0
MAPT	4137	broad.mit.edu	37	17	44060626	44060626	+	Silent	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr17:44060626C>T	ENST00000344290.5	+	6	778	c.456C>T	c.(454-456)ggC>ggT	p.G152G	MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Silent_p.G152G|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.G152G|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Silent_p.G152G|MAPT_ENST00000574436.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	152					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCATGTCCGGCATGCCTGGGG	0.672000													3	19					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413492	61413492	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr10:61413492G>T	ENST00000395348.3	-	5	1928	c.1292C>A	c.(1291-1293)gCc>gAc	p.A431D	SLC16A9_ENST00000395347.1_Missense_Mutation_p.A431D	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	431					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TATCCCATAGGCATGGGCTAA	0.403000													40	38					3.09479e-21	4.50524e-21	1	1	0
ZNF648	127665	broad.mit.edu	37	1	182026755	182026755	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:182026755C>T	ENST00000339948.3	-	2	598	c.391G>A	c.(391-393)Gca>Aca	p.A131T		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A131T(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AATTTGTGTGCGAGACCACTG	0.567000													21	100					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212174	26212174	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:26212174G>T	ENST00000379034.1	+	2	360	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	71	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTCACCCACTGGGTCTCCTGA	0.532000													57	73					5.66675e-16	7.70397e-16	1	1	0
TAS2R19	259294	broad.mit.edu	37	12	11174555	11174555	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:11174555G>C	ENST00000390673.2	-	1	664	c.616C>G	c.(616-618)Ctc>Gtc	p.L206V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	206					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ATCTTCTTGAGATGTTTACAA	0.413000													44	230					0	0	1	0	0
TMED2	10959	broad.mit.edu	37	12	124071432	124071432	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:124071432A>T	ENST00000262225.3	+	2	425	c.319A>T	c.(319-321)Atg>Ttg	p.M107L	TMED2_ENST00000509052.2_Missense_Mutation_p.M22L	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	107	GOLD.				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding	p.M107L(1)		kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		AAAAATAGTGATGTTCACCAT	0.393000													9	60					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887490	23887490	+	Silent	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr14:23887490C>T	ENST00000355349.3	-	30	4260	c.4098G>A	c.(4096-4098)tcG>tcA	p.S1366S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1366					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGCCACCTCCGAGTTGGCCT	0.637000													26	76					0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25334190	25334190	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr22:25334190G>T	ENST00000407886.1	-	3	305	c.53C>A	c.(52-54)tCt>tAt	p.S18Y	TMEM211_ENST00000382744.1_Missense_Mutation_p.S18Y|TMEM211_ENST00000423535.1_Missense_Mutation_p.S89Y			Q6ICI0	TM211_HUMAN	transmembrane protein 211	89						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CACAGCCCAAGACAGGAGGAA	0.552000													17	69					3.45872e-05	3.76794e-05	1	1	0
VWA3B	200403	broad.mit.edu	37	2	98732114	98732114	+	Splice_Site	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:98732114G>T	ENST00000477737.1	+	3	400		c.e3-1		VWA3B_ENST00000451075.2_Splice_Site|VWA3B_ENST00000435344.1_Splice_Site	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAAAAATGCAGATTATGTGGC	0.378000													12	48					1.08611e-07	1.23217e-07	1	1	0
NKX2-2	4821	broad.mit.edu	37	20	21492602	21492602	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr20:21492602T>G	ENST00000377142.4	-	2	1137	c.781A>C	c.(781-783)Aca>Cca	p.T261P	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	261					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGGTGTGCTGTCGGGTACTGG	0.701000													12	43					0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291911	22291911	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:22291911C>A	ENST00000323684.1	+	1	847	c.803C>A	c.(802-804)gCg>gAg	p.A268E		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	268	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGTCAACCAGCGGTATCGTCC	0.438000													110	191					9.16818e-52	1.54684e-51	1	1	0
PPFIBP1	8496	broad.mit.edu	37	12	27832957	27832957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:27832957C>T	ENST00000318304.8	+	20	2159	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	PPFIBP1_ENST00000542629.1_Nonsense_Mutation_p.R595*|PPFIBP1_ENST00000228425.6_Nonsense_Mutation_p.R620*|PPFIBP1_ENST00000537927.1_Nonsense_Mutation_p.R473*	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	626					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CGCGGGGCCCCGATTAGGTTG	0.478000													32	133					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101266616	101266616	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr13:101266616C>G	ENST00000342624.5	-	16	2163	c.1905G>C	c.(1903-1905)gaG>gaC	p.E635D	TMTC4_ENST00000376234.3_Missense_Mutation_p.E616D|TMTC4_ENST00000328767.5_Missense_Mutation_p.E505D	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	616						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCAGGCTGTGCTCTGGTTTCA	0.448000													58	75					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129921203	129921203	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr10:129921203C>G	ENST00000368654.3	-	4	604	c.229G>C	c.(229-231)Gat>Cat	p.D77H	MKI67_ENST00000368653.3_Missense_Mutation_p.D77H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	77					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACAGGCTCATCAATAACAGAC	0.353000													11	39					0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125680984	125680984	+	Silent	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr9:125680984C>A	ENST00000373656.3	-	2	1303	c.1230G>T	c.(1228-1230)ggG>ggT	p.G410G	ZBTB26_ENST00000373654.1_Silent_p.G410G	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GTGGCTGACACCCTTTAGAGT	0.428000													47	63					2.27781e-18	3.18893e-18	1	1	0
CAGE1	285782	broad.mit.edu	37	6	7370162	7370162	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:7370162A>T	ENST00000502583.1	-	6	2447	c.1883T>A	c.(1882-1884)cTc>cAc	p.L628H	CAGE1_ENST00000512086.1_Missense_Mutation_p.L628H|CAGE1_ENST00000296742.7_Missense_Mutation_p.L492H|CAGE1_ENST00000338150.4_Missense_Mutation_p.L628H|CAGE1_ENST00000379918.4_Missense_Mutation_p.L628H	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	628										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTGGCATGTGAGAAGTCCCAC	0.408000													19	19					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144557681	144557681	+	Missense_Mutation	SNP	C	C	T	rs144762294	byFrequency	TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr8:144557681C>T	ENST00000262577.5	-	5	1821	c.1790G>A	c.(1789-1791)cGg>cAg	p.R597Q		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	597					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCCTTTGCTCCGCCACCAAGG	0.642000													7	28					0	0	1	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45221402	45221402	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr22:45221402G>A	ENST00000517296.3	+	12	1155	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	ARHGAP8_ENST00000336963.4_Silent_p.T175T|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.T306T|ARHGAP8_ENST00000389774.2_Silent_p.T206T|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.T385T|ARHGAP8_ENST00000389773.5_Silent_p.T297T|ARHGAP8_ENST00000356099.6_Silent_p.T175T					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		AGGGCCGGACGCCGCCTCCCA	0.657000													14	41					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74329985	74329985	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr9:74329985T>C	ENST00000377044.4	-	15	2995	c.2456A>G	c.(2455-2457)gAt>gGt	p.D819G	TMEM2_ENST00000377066.5_Missense_Mutation_p.D756G	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	819						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGAACCTTCATCACTTGGGAA	0.423000													3	30					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57484610	57484610	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr20:57484610C>T	ENST00000371100.4	+	9	3175	c.2623C>T	c.(2623-2625)Cgc>Tgc	p.R875C	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R217C|GNAS_ENST00000306090.10_Missense_Mutation_p.R218C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R861C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R233C|GNAS_ENST00000371085.3_Missense_Mutation_p.R232C|GNAS_ENST00000371095.3_Missense_Mutation_p.R218C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	232					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CGATGAACGCCGCAAGTGGAT	0.547000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			35	51					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564402	46564402	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:46564402C>G	ENST00000458649.2	-	7	1583	c.1165G>C	c.(1165-1167)Ggt>Cgt	p.G389R	AMBRA1_ENST00000298834.3_Missense_Mutation_p.G389R|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G389R|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G389R|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G299R|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G389R|AMBRA1_ENST00000533727.1_Missense_Mutation_p.G299R			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	389					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CGGGTAGGACCCAGACTGAGG	0.617000													15	74					0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89453040	89453040	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:89453040C>T	ENST00000539437.1	-	3	300	c.164G>A	c.(163-165)gGc>gAc	p.G55D	MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Missense_Mutation_p.G63D|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000268150.8_Missense_Mutation_p.G63D|MFGE8_ENST00000566497.1_Missense_Mutation_p.G63D			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	63	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACAGTGGTTGCCCGCGTAGCC	0.572000													36	93					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148055116	148055116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:148055116C>A	ENST00000370460.2	+	16	3862	c.3383C>A	c.(3382-3384)tCt>tAt	p.S1128Y	AFF2_ENST00000342251.3_Missense_Mutation_p.S1095Y|AFF2_ENST00000370457.5_Missense_Mutation_p.S1093Y|AFF2_ENST00000286437.5_Missense_Mutation_p.S769Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1128					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATGTACTCTGAGACTGTG	0.443000													48	64					4.21674e-32	6.57491e-32	1	1	0
PRICKLE3	4007	broad.mit.edu	37	X	49040253	49040253	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:49040253G>A	ENST00000376317.3	-	3	340	c.246C>T	c.(244-246)tcC>tcT	p.S82S	PRICKLE3_ENST00000536904.1_Silent_p.S14S|PRICKLE3_ENST00000376310.3_Silent_p.S82S|PRICKLE3_ENST00000538114.1_Silent_p.S82S|PRICKLE3_ENST00000540849.1_Silent_p.S14S	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	82	PET.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						AGTCGTCGTCGGAGATGGAGT	0.637000													22	51					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67072372	67072372	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:67072372A>G	ENST00000308127.4	+	3	411	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.Q78R|SSH3_ENST00000308298.7_Missense_Mutation_p.Q78R	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	78					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACGGGGACCAGACAGACTTC	0.612000													7	34					0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23846531	23846531	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr14:23846531C>T	ENST00000359320.3	+	1	515	c.71C>T	c.(70-72)gCg>gTg	p.A24V	CMTM5_ENST00000397227.3_Missense_Mutation_p.A24V|CMTM5_ENST00000382809.2_Missense_Mutation_p.A24V|CMTM5_ENST00000555731.1_Missense_Mutation_p.A24V|CMTM5_ENST00000342473.4_Missense_Mutation_p.A24V|CMTM5_ENST00000339180.4_Missense_Mutation_p.A24V	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	24					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CAGGGCTTCGCGGTGGACAAG	0.642000													16	44					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176522377	176522377	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr5:176522377G>T	ENST00000292408.4	+	12	1811	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	FGFR4_ENST00000502906.1_Missense_Mutation_p.E522D|FGFR4_ENST00000292410.3_Missense_Mutation_p.E482D|FGFR4_ENST00000393648.2_Missense_Mutation_p.E454D|FGFR4_ENST00000393637.1_Missense_Mutation_p.E482D	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	522	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CGGAGATGGAGGTGATGAAGC	0.627000										TSP Lung(9;0.080)			14	60					4.7546e-09	5.58666e-09	1	1	0
SOHLH1	402381	broad.mit.edu	37	9	138590208	138590208	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr9:138590208G>A	ENST00000298466.5	-	3	372	c.312C>T	c.(310-312)gcC>gcT	p.A104A	SOHLH1_ENST00000425225.1_Silent_p.A104A	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	104	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CCAGGGCGCTGGCAAGCCGCA	0.652000													40	48					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141806769	141806769	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:141806769G>A	ENST00000389484.3	-	11	2546	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	525					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCCATAAAAGAGGAACAACT	0.403000										TSP Lung(27;0.18)			25	103					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129264009	129264009	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:129264009C>A	ENST00000287295.3	-	15	1936	c.1706G>T	c.(1705-1707)aGg>aTg	p.R569M	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.R565M|AIFM1_ENST00000460436.2_Missense_Mutation_p.R230M|AIFM1_ENST00000440263.1_Missense_Mutation_p.R217M|AIFM1_ENST00000346424.2_Missense_Mutation_p.R282M	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	569					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CACTTTGTCCCTGAGGTAGAA	0.527000													161	212					2.41315e-71	4.20067e-71	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33667355	33667355	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:33667355G>A	ENST00000321505.4	+	16	4822	c.4642G>A	c.(4642-4644)Gac>Aac	p.D1548N	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D1554N					KIAA1549-like																		GCCATCCATCGACGAGGTCAG	0.632000													34	90					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116307426	116307426	+	Silent	SNP	G	G	A	rs144146814		TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr10:116307426G>A	ENST00000533213.2	-	5	904	c.603C>T	c.(601-603)acC>acT	p.T201T	ABLIM1_ENST00000277895.5_Silent_p.T261T|ABLIM1_ENST00000369252.4_Silent_p.T201T			O14639	ABLM1_HUMAN	actin binding LIM protein 1	261	LIM zinc-binding 2.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGTACTCCCCGGTGAGGACCT	0.612000													15	37					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052923	50052923	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:50052923C>A	ENST00000376042.1	+	6	2052	c.1754C>A	c.(1753-1755)tCg>tAg	p.S585*	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Nonsense_Mutation_p.S585*			Q8WWL7	CCNB3_HUMAN	cyclin B3	585					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.S585L(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ACCAAGACATCGTTGTCTTTA	0.398000													12	51					1.08611e-07	1.23217e-07	1	1	0
SLC12A3	6559	broad.mit.edu	37	16	56913480	56913480	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr16:56913480G>A	ENST00000438926.2	+	11	1391	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	SLC12A3_ENST00000262502.5_Silent_p.A453A|SLC12A3_ENST00000566786.1_Silent_p.A453A|SLC12A3_ENST00000563236.1_Silent_p.A454A	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	454					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.A454A(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CAGGCTTCGCGCCCCTGATCA	0.642000													11	42					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502143	20502143	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr14:20502143C>T	ENST00000315693.2	-	1	776	c.775G>A	c.(775-777)Gtc>Atc	p.V259I		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGGGCCAGACGTAGATAAAG	0.403000													13	42					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003415	75003415	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:75003415C>T	ENST00000373359.2	-	1	1664	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	491	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTCTGTGGTCGCTTTCTGTA	0.478000													24	77					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997		TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:52942411G>A	ENST00000332323.6	+	4	1798	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Silent_p.A566A|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443000													3	19					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129159250	129159250	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:129159250G>A	ENST00000540052.1	+	6	4018	c.3974G>A	c.(3973-3975)gGc>gAc	p.G1325D	BCORL1_ENST00000218147.7_Missense_Mutation_p.G1325D|BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000303743.5_Missense_Mutation_p.G1325D	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1325					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						gaggaggaggGCCTGCTGAAG	0.582000													27	58					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29935324	29935324	+	Silent	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr22:29935324C>A	ENST00000490103.1	-	6	716	c.594G>T	c.(592-594)cgG>cgT	p.R198R	THOC5_ENST00000397871.1_Silent_p.R198R|THOC5_ENST00000397873.2_Silent_p.R198R|THOC5_ENST00000397872.1_Silent_p.R198R	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	198	Interaction with THOC7.				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTACCTTTTCCGCTGCTCCA	0.507000													24	51					3.6726e-16	5.01364e-16	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141201926	141201926	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:141201926C>A	ENST00000389484.3	-	65	11238	c.10267G>T	c.(10267-10269)Ggt>Tgt	p.G3423C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3423	LDL-receptor class A 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTCATCACCACAGTCATCT	0.373000										TSP Lung(27;0.18)			18	101					2.35188e-11	2.98752e-11	1	1	0
MTMR1	8776	broad.mit.edu	37	X	149919533	149919533	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:149919533G>C	ENST00000538506.1	+	11	1198	c.1163G>C	c.(1162-1164)gGc>gCc	p.G388A	MTMR1_ENST00000541925.1_Intron|MTMR1_ENST00000445323.2_Intron|MTMR1_ENST00000370390.3_Intron|MTMR1_ENST00000544228.1_Intron|MTMR1_ENST00000451863.2_Missense_Mutation_p.G563A			Q13613	MTMR1_HUMAN	myotubularin related protein 1	0	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					cgagcccgtggctctctcagg	0.582000													7	12					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95072838	95072838	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr10:95072838T>A	ENST00000371501.4	-	51	5950	c.5828A>T	c.(5827-5829)cAg>cTg	p.Q1943L	MYOF_ENST00000359263.4_Missense_Mutation_p.Q1943L|MYOF_ENST00000371502.4_Missense_Mutation_p.Q1933L|MYOF_ENST00000358334.5_Missense_Mutation_p.Q1930L			Q9NZM1	MYOF_HUMAN	myoferlin	1943					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CATGGACTTCTGCTCAAAGAG	0.478000													232	173					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354109	10354109	+	Silent	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr17:10354109T>C	ENST00000255381.2	-	29	4079	c.3969A>G	c.(3967-3969)ctA>ctG	p.L1323L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1323					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCCTCTTCTAGCTGCCTCT	0.388000													49	36					0	0	1	0	0
HDAC8	55869	broad.mit.edu	37	X	71687844	71687844	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:71687844G>T	ENST00000373571.1	-	8	836	c.755C>A	c.(754-756)aCt>aAt	p.T252N	HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373573.3_Intron|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373589.4_Intron			Q9BY41	HDAC8_HUMAN	histone deacetylase 8	0	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TCCTCAAGGAGTTCTGATAAA	0.418000													5	2					5.9392e-07	6.62372e-07	1	1	0
SNTG1	54212	broad.mit.edu	37	8	51617197	51617197	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr8:51617197C>A	ENST00000522124.1	+	16	1737	c.1076C>A	c.(1075-1077)aCc>aAc	p.T359N	SNTG1_ENST00000276467.5_Missense_Mutation_p.T359N|SNTG1_ENST00000518864.1_Missense_Mutation_p.T359N|SNTG1_ENST00000517473.1_Missense_Mutation_p.T359N	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	359	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGTGCTTCACCGTGCAGTCT	0.537000													19	235					6.94344e-10	8.42949e-10	1	1	0
MAGEB1	4112	broad.mit.edu	37	X	30269393	30269393	+	Silent	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:30269393C>T	ENST00000378981.3	+	4	1104	c.783C>T	c.(781-783)ccC>ccT	p.P261P	MAGEB1_ENST00000397548.2_Silent_p.P261P|MAGEB1_ENST00000397550.1_Silent_p.P261P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	261	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AGCAGGTGCCCAACAGTGATC	0.493000													68	80					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87160635	87160635	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:87160635T>A	ENST00000265724.3	-	22	3077	c.2660A>T	c.(2659-2661)aAg>aTg	p.K887M	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.K823M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	887	ABC transmembrane type-1 2.		K -> N (in a colorectal cancer sample; somatic mutation).		G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TAGTTCTTTCTTATCTTTCAG	0.348000													65	58					0	0	1	0	0
TMEM109	79073	broad.mit.edu	37	11	60689390	60689390	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:60689390G>T	ENST00000227525.3	+	4	888	c.485G>T	c.(484-486)gGc>gTc	p.G162V	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.G162V	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	162						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						ATCCTGTGGGGCCTGAAGCTT	0.652000													53	95					8.78508e-14	1.17016e-13	1	1	0
ESPNL	339768	broad.mit.edu	37	2	239040087	239040087	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:239040087G>T	ENST00000343063.3	+	9	2995	c.2732G>T	c.(2731-2733)gGc>gTc	p.G911V	ESPNL_ENST00000409169.1_Missense_Mutation_p.G867V|ESPNL_ENST00000409506.1_Missense_Mutation_p.G543V|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	911										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTGGCCGCCGGCCGCCGGGCC	0.697000													6	24					2.0095e-06	2.23353e-06	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70389160	70389160	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:70389160G>A	ENST00000374051.3	+	7	2022	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H	NLGN3_ENST00000358741.3_Missense_Mutation_p.R587H|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.R547H	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	587					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AAGGCCAACCGCTTTGAGGAA	0.537000													6	47					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457684	110457684	+	Silent	SNP	A	A	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr8:110457684A>C	ENST00000378402.5	+	38	5690	c.5586A>C	c.(5584-5586)acA>acC	p.T1862T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1862	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAACACTACAGTCACTATTG	0.488000										HNSCC(38;0.096)			80	22					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10542911	10542911	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr17:10542911T>A	ENST00000583535.1	-	23	2978	c.2891A>T	c.(2890-2892)aAg>aTg	p.K964M	MYH3_ENST00000226209.7_Missense_Mutation_p.K964M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	964					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTCTCAACCTTGGCCAGGGT	0.428000													81	191					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313500	79313500	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:79313500G>T	ENST00000305089.3	-	4	394	c.314C>A	c.(313-315)cCa>cAa	p.P105Q		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	105	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GACCTTTTTTGGGTCATGGAG	0.498000													52	47					1.56989e-16	2.16107e-16	1	1	0
TPD52L2	7165	broad.mit.edu	37	20	62521267	62521267	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr20:62521267A>T	ENST00000217121.5	+	9	731	c.659A>T	c.(658-660)gAc>gTc	p.D220V	TPD52L2_ENST00000346249.4_Missense_Mutation_p.D197V|TPD52L2_ENST00000358548.4_Missense_Mutation_p.D191V|TPD52L2_ENST00000352482.4_Missense_Mutation_p.D211V|TPD52L2_ENST00000369927.4_Missense_Mutation_p.D154V|TPD52L2_ENST00000351424.4_Missense_Mutation_p.D200V|TPD52L2_ENST00000348257.5_Missense_Mutation_p.D177V	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	197					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GGGAGTGGTGACAAGCCCCTG	0.557000													32	51					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423912	190423912	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:190423912C>G	ENST00000367462.3	-	2	340	c.109G>C	c.(109-111)Gat>Cat	p.D37H	FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		37						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCATGCTGATCCGAAACAGCA	0.532000													39	52					0	0	1	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286838	11286838	+	Silent	SNP	T	T	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:11286838T>G	ENST00000539585.1	-	1	405	c.6A>C	c.(4-6)atA>atC	p.I2I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GCAGAAAAGTTATCATGTCTG	0.328000													9	38					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134054	128134054	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:128134054T>C	ENST00000368250.1	-	5	1993	c.1495A>G	c.(1495-1497)Acg>Gcg	p.T499A	THEMIS_ENST00000537166.1_Missense_Mutation_p.T543A|THEMIS_ENST00000543064.1_Missense_Mutation_p.T578A|THEMIS_ENST00000368248.2_Missense_Mutation_p.T578A			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	578	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGTCTACCGTCCTTTCTTCT	0.478000													83	36					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566332	155566332	+	Splice_Site	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:155566332G>C	ENST00000295101.2	+	2	1396		c.e2+1		KCNJ3_ENST00000493505.1_Splice_Site|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3						synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GAAACAACTGGTGAGTAAAAA	0.393000													43	27					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21867831	21867831	+	Silent	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr14:21867831T>C	ENST00000399982.2	-	25	4915	c.4851A>G	c.(4849-4851)caA>caG	p.Q1617Q	CHD8_ENST00000557364.1_Silent_p.Q1617Q|CHD8_ENST00000430710.3_Silent_p.Q1338Q|CHD8_ENST00000555962.1_5'UTR	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1617					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAACCTCCAGTTGATCCACTA	0.443000													9	42					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652437	152652437	+	Silent	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:152652437T>A	ENST00000367255.5	-	78	13984	c.13383A>T	c.(13381-13383)gcA>gcT	p.A4461A	SYNE1_ENST00000423061.1_Silent_p.A4390A|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Silent_p.A4390A|SYNE1_ENST00000265368.4_Silent_p.A4461A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4461					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGGAACACTGCCATGAGAA	0.453000										HNSCC(10;0.0054)			48	14					0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197137	26197137	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:26197137G>A	ENST00000377831.5	-	2	795	c.342C>T	c.(340-342)caC>caT	p.H114H	HIST1H3D_ENST00000356476.2_Silent_p.H114H	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	114					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CTCGCTTGGCGTGAATGGCGC	0.572000													31	113					0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8430143	8430143	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:8430143C>A	ENST00000379660.4	-	3	700	c.251G>T	c.(250-252)tGt>tTt	p.C84F	SLC35B3_ENST00000426876.1_Missense_Mutation_p.C150F|SLC35B3_ENST00000339306.5_Missense_Mutation_p.C84F	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	84					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TCCAGCAACACATATGAAAAA	0.318000													13	10					4.36969e-10	5.34434e-10	1	1	0
KIF6	221458	broad.mit.edu	37	6	39682526	39682526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:39682526C>A	ENST00000287152.7	-	3	287	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	KIF6_ENST00000373216.3_Missense_Mutation_p.D65Y|KIF6_ENST00000373215.3_Missense_Mutation_p.D65Y|KIF6_ENST00000465719.1_5'UTR|KIF6_ENST00000538893.1_Missense_Mutation_p.D65Y	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	65	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCATCCTGATCAAAAATTCTT	0.358000													7	54					8.12818e-05	8.79662e-05	1	1	0
FCGR3B	2215	broad.mit.edu	37	1	161599796	161599796	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:161599796C>A	ENST00000294800.3	-	3	364	c.91G>T	c.(91-93)Gag>Tag	p.E31*	FCGR3B_ENST00000531221.1_Nonsense_Mutation_p.E67*|FCGR3B_ENST00000367964.2_Nonsense_Mutation_p.E31*|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	31					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATTGAGGCTCCAGGAACACC	0.547000													68	68					4.83814e-26	7.20248e-26	1	1	0
OR2A14	135941	broad.mit.edu	37	7	143826871	143826871	+	Silent	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:143826871C>A	ENST00000408899.2	+	1	721	c.666C>A	c.(664-666)gcC>gcA	p.A222A		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A222A(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GCATCCTGGCCGCCATCTTGA	0.612000													126	225					3.78353e-64	6.48324e-64	1	1	0
CDH16	1014	broad.mit.edu	37	16	66949215	66949215	+	Missense_Mutation	SNP	C	C	T	rs149161540		TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr16:66949215C>T	ENST00000299752.4	-	6	684	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	CDH16_ENST00000565796.1_Missense_Mutation_p.R164Q|CDH16_ENST00000394055.3_Missense_Mutation_p.R164Q|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000570262.1_Missense_Mutation_p.R84Q	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	164	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GATGTGGAATCGAAGATCCGA	0.622000													8	48					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114225728	114225728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:114225728G>T	ENST00000307546.9	+	21	3613	c.3538G>T	c.(3538-3540)Gag>Tag	p.E1180*	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1205					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATCAGCCTGAGATAAAGCA	0.358000													31	24					6.38683e-12	8.30541e-12	1	1	0
GJB7	375519	broad.mit.edu	37	6	87994628	87994628	+	Translation_Start_Site	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:87994628C>G	ENST00000525899.1	-	3	348	c.3G>C	c.(1-3)atG>atC	p.M1I	GJB7_ENST00000296882.3_Start_Codon_SNP_p.M1I	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	1					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		ACATCCAACTCATGACTTAGG	0.418000													11	24					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100171148	100171148	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:100171148C>T	ENST00000317233.4	-	22	3567	c.3332G>A	c.(3331-3333)gGa>gAa	p.G1111E	AFF3_ENST00000409579.1_Missense_Mutation_p.G1136E|AFF3_ENST00000409236.1_Missense_Mutation_p.G1111E|AFF3_ENST00000356421.2_Missense_Mutation_p.G1136E	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1111					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AACTTACTTTCCACTGGCCCC	0.537000													17	51					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423403	56423403	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:56423403T>A	ENST00000588751.1	-	5	1804	c.1780A>T	c.(1780-1782)Aaa>Taa	p.K594*	NLRP13_ENST00000342929.3_Nonsense_Mutation_p.K594*			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	594							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCTATGTTTTTATTTAAAAGA	0.398000													66	38					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23521184	23521184	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr5:23521184G>T	ENST00000296682.3	+	6	586	c.404G>T	c.(403-405)aGa>aTa	p.R135I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	135					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAATTGTCAAGAACAGCAAAT	0.408000										HNSCC(3;0.000094)			17	64					4.7546e-09	5.58666e-09	1	1	0
MUC16	94025	broad.mit.edu	37	19	9088239	9088239	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:9088239C>A	ENST00000397910.4	-	1	3779	c.3576G>T	c.(3574-3576)atG>atT	p.M1192I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1192	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAGTTGGGCATGTTCCACC	0.468000													99	20					2.18907e-53	3.71239e-53	1	1	0
PDDC1	347862	broad.mit.edu	37	11	773533	773533	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:773533T>A	ENST00000319863.8	-	4	365	c.344A>T	c.(343-345)cAc>cTc	p.H115L	PDDC1_ENST00000524550.1_Intron|PDDC1_ENST00000442059.2_Missense_Mutation_p.H65L|PDDC1_ENST00000397472.2_Missense_Mutation_p.H115L|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000526325.1_Missense_Mutation_p.H115L	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	115						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTCTCAGAGTGGAAGTGCTG	0.637000													8	14					0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44940814	44940814	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:44940814A>C	ENST00000340160.3	+	6	622	c.383A>C	c.(382-384)aAt>aCt	p.N128T	TSPAN18_ENST00000520358.2_Missense_Mutation_p.N128T	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	128						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TACCAGGGCAATAACGACACA	0.567000													55	50					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118109183	118109183	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:118109183C>A	ENST00000365713.2	+	1	603	c.440C>A	c.(439-441)gCg>gAg	p.A147E	LONRF3_ENST00000304778.7_Missense_Mutation_p.A147E|LONRF3_ENST00000371628.3_Missense_Mutation_p.A147E			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	147					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCCGCGGCTGCGGCGGCCACC	0.667000													12	10					1.08611e-07	1.23217e-07	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141035760	141035760	+	Splice_Site	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr5:141035760C>T	ENST00000239440.4	-	28	3938		c.e28+1		ARAP3_ENST00000508305.1_Splice_Site|ARAP3_ENST00000513878.1_Splice_Site|ARAP3_ENST00000512390.1_Splice_Site	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3						cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGAAAACTCACGGTGTTGGGG	0.567000													27	114					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675867	21675867	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:21675867C>T	ENST00000379499.2	-	1	581	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	14										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GTGAGCAGCGCGCCGCCATGA	0.662000													7	40					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564660	176564660	+	Silent	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:176564660C>T	ENST00000367662.3	+	3	3084	c.1920C>T	c.(1918-1920)gaC>gaT	p.D640D	PAPPA2_ENST00000367661.3_Silent_p.D640D	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	640	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACGACTTTGACGACGGAGACT	0.597000													15	82					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191926496	191926496	+	Silent	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:191926496C>A	ENST00000392320.2	-	10	1307	c.993G>T	c.(991-993)ccG>ccT	p.P331P	STAT4_ENST00000358470.4_Silent_p.P331P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	331					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TAAGTACCAACGGCCTCTGAG	0.393000													75	338					1.1397e-45	1.87481e-45	1	1	0
HOXA3	3200	broad.mit.edu	37	7	27147616	27147616	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:27147616G>A	ENST00000396352.4	-	3	1449	c.1250C>T	c.(1249-1251)cCg>cTg	p.P417L	HOXA3_ENST00000317201.2_Missense_Mutation_p.P417L|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	417					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGTGGGGTGCGGCTCCCCAGG	0.677000													23	108					0	0	1	0	0
PNPLA4	8228	broad.mit.edu	37	X	7870030	7870030	+	Splice_Site	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:7870030C>A	ENST00000381042.4	-	6	800	c.630_splice	c.e6+1	p.M210_splice	PNPLA4_ENST00000537427.1_Splice_Site_p.M123_splice|PNPLA4_ENST00000444736.1_Splice_Site_p.M210_splice	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	210					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				AATTACTCACCATGATATCCT	0.428000													49	66					1.89013e-27	2.85253e-27	1	1	0
CFC1	55997	broad.mit.edu	37	2	131356279	131356279	+	Silent	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:131356279C>G	ENST00000259216.4	-	3	445	c.183G>C	c.(181-183)gtG>gtC	p.V61V		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	61					determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane				endometrium(1)|lung(4)	5	Colorectal(110;0.1)					CGCTCCCAGTCACCTCTCCGA	0.622000													44	82					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41092698	41092698	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:41092698T>A	ENST00000291842.5	+	13	1233	c.1184T>A	c.(1183-1185)aTc>aAc	p.I395N	SHKBP1_ENST00000600733.1_Missense_Mutation_p.I370N|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	395						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGAACTGGATCGAGATCGCC	0.622000													30	84					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175066815	175066815	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:175066815G>A	ENST00000239462.4	+	8	1964	c.1851G>A	c.(1849-1851)ccG>ccA	p.P617P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	617	Fibronectin type-III 4.				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)		CCAACGCCCCGACAGGTAACA	0.512000													17	62					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57062239	57062239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr16:57062239C>T	ENST00000436936.1	+	8	2410	c.2185C>T	c.(2185-2187)Cga>Tga	p.R729*	NLRC5_ENST00000308149.7_Nonsense_Mutation_p.R729*|NLRC5_ENST00000262510.6_Nonsense_Mutation_p.R729*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.R729*			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	729					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AATCACTGCCCGAGGCATCAG	0.552000													53	49					0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80222203	80222203	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:80222203T>C	ENST00000450142.2	-	5	955	c.689A>G	c.(688-690)tAt>tGt	p.Y230C	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.Y230C|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.Y230C|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.Y143C|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.Y230C	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	230						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCAGCCATCATAGTCTTTAAT	0.348000													14	44					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121535540	121535540	+	Silent	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr8:121535540G>T	ENST00000305949.1	+	22	2724	c.2679G>T	c.(2677-2679)gtG>gtT	p.V893V		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	893	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCCCCTAGGTGATTGACTGGG	0.284000													21	116					1.55469e-16	2.14914e-16	1	1	0
RAB40A	142684	broad.mit.edu	37	X	102755546	102755546	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:102755546C>G	ENST00000372633.1	-	1	2257	c.139G>C	c.(139-141)Ggg>Cgg	p.G47R	RAB40A_ENST00000304236.1_Missense_Mutation_p.G47R			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	47					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TCGATCCCCCCGAGATGGCTG	0.592000													101	165					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583277	119583277	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:119583277G>A	ENST00000267260.4	+	9	1251	c.863G>A	c.(862-864)gGa>gAa	p.G288E		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	288	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TACGACTCAGGAAATGACACG	0.627000													4	11					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18198677	18198677	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:18198677C>A	ENST00000380033.4	-	9	1514	c.1382G>T	c.(1381-1383)aGt>aTt	p.S461I	BEND2_ENST00000380030.3_Missense_Mutation_p.S370I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	461										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATCCTGGCCACTGTCACTGTC	0.408000													68	108					7.1157e-29	1.08383e-28	1	1	0
C12orf71	728858	broad.mit.edu	37	12	27234205	27234205	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:27234205T>A	ENST00000429849.2	-	2	742	c.712A>T	c.(712-714)Acc>Tcc	p.T238S		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	238										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GGACTTTTGGTGGCATTCACA	0.532000													22	118					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8862113	8862113	+	Splice_Site	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr16:8862113G>T	ENST00000396600.2	+	10	1605	c.667_splice	c.e10+1	p.G223_splice	ABAT_ENST00000268251.8_Splice_Site_p.G223_splice|ABAT_ENST00000569156.1_Splice_Site_p.G223_splice|ABAT_ENST00000567812.1_Splice_Site_p.G238_splice|ABAT_ENST00000425191.2_Splice_Site_p.G223_splice	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	223					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GAGGACCATGGGTAAGGAGGG	0.498000													16	44					2.32078e-09	2.7765e-09	1	1	0
ANK2	287	broad.mit.edu	37	4	114278461	114278461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr4:114278461C>A	ENST00000357077.4	+	38	8740	c.8687C>A	c.(8686-8688)tCc>tAc	p.S2896Y	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2863Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2863					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAGACTCATCCATTACTACT	0.393000													110	96					9.50263e-46	1.57104e-45	1	1	0
GJB7	375519	broad.mit.edu	37	6	87994477	87994477	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:87994477C>G	ENST00000525899.1	-	3	499	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	GJB7_ENST00000296882.3_Missense_Mutation_p.E52Q	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	52					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CTGTTGCACTCAAACTCTTTC	0.483000													37	43					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34881083	34881083	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr17:34881083G>A	ENST00000431794.3	-	6	912	c.390C>T	c.(388-390)gtC>gtT	p.V130V	MYO19_ENST00000544606.1_Intron|MYO19_ENST00000586007.1_Silent_p.V130V|MYO19_ENST00000268852.9_Silent_p.V130V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	130	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCTCTCCACTGACAACAATAG	0.522000													100	165					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120381601	120381601	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:120381601C>A	ENST00000331113.4	+	3	2257	c.1292C>A	c.(1291-1293)gCc>gAc	p.A431D		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	431					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCTAGACTGGCCAGGATCCGG	0.393000													8	61					5.18039e-06	5.71929e-06	1	1	0
TRIM60	166655	broad.mit.edu	37	4	165961462	165961462	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr4:165961462C>A	ENST00000512596.1	+	3	454	c.238C>A	c.(238-240)Caa>Aaa	p.Q80K	TRIM60_ENST00000341062.5_Missense_Mutation_p.Q80K|TRIM60_ENST00000508504.1_Missense_Mutation_p.Q80K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	80						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AATTGCTAAACAACTCCAGAT	0.438000													53	46					6.27289e-28	9.51051e-28	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228481085	228481085	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:228481085G>T	ENST00000570156.2	+	46	12260	c.12186G>T	c.(12184-12186)agG>agT	p.R4062S	OBSCN_ENST00000366709.4_Missense_Mutation_p.R752S|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2480S|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3633S|OBSCN_ENST00000366707.4_Missense_Mutation_p.R752S|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3633S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3103	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGGTCTGAGGAACGAAGAGG	0.542000													29	42					1.06801e-11	1.36722e-11	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1947097	1947097	+	Silent	SNP	A	A	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:1947097A>T	ENST00000399161.2	-	9	909	c.162T>A	c.(160-162)ggT>ggA	p.G54G	MYT1L_ENST00000428368.2_Silent_p.G54G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	54					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCAAGGGACAACCATATACAC	0.418000													2	1					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4824686	4824686	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:4824686C>A	ENST00000380382.1	-	1	1161	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*	OR52R1_ENST00000356069.2_Nonsense_Mutation_p.G309*|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACAACATCCTTGGATAACC	0.448000													39	61					2.87052e-16	3.935e-16	1	1	0
OR52R1	119695	broad.mit.edu	37	11	4825444	4825444	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:4825444T>C	ENST00000380382.1	-	1	403	c.404A>G	c.(403-405)cAc>cGc	p.H135R	OR52R1_ENST00000356069.2_Missense_Mutation_p.H56R|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGCAGGGTGTGGTCAATTCT	0.507000													34	50					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683222	100683222	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:100683222C>A	ENST00000306151.4	+	3	8589	c.8525C>A	c.(8524-8526)aCc>aAc	p.T2842N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2842	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)					ACACCTGTGACCACTTCTACT	0.473000													396	398					7.71326e-169	1.36433e-168	1	1	0
TG	7038	broad.mit.edu	37	8	133900692	133900692	+	Silent	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr8:133900692G>T	ENST00000220616.4	+	10	2680	c.2640G>T	c.(2638-2640)ccG>ccT	p.P880P	TG_ENST00000377869.1_Silent_p.P880P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	880	Thyroglobulin type-1 7.				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)		GCCAATACCCGGGGTCCTACT	0.547000													17	89					6.94344e-10	8.42949e-10	1	1	0
COL1A1	1277	broad.mit.edu	37	17	48272649	48272649	+	Nonsense_Mutation	SNP	G	G	A	rs72648326		TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr17:48272649G>A	ENST00000225964.5	-	19	1361	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	415	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GAGGGGCCTCGGGCACCAGGG	0.672000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	56					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046540	73046540	+	RNA	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:73046540G>T	ENST00000604411.1	+	0	34501				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TGGGTCATGGGCCTCCAGATT	0.488000													90	148					1.02218e-41	1.66484e-41	1	1	0
DGKI	9162	broad.mit.edu	37	7	137330264	137330264	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:137330264C>A	ENST00000424189.2	-	6	987	c.758G>T	c.(757-759)tGg>tTg	p.W253L	DGKI_ENST00000288490.5_Missense_Mutation_p.W253L|DGKI_ENST00000446122.1_Missense_Mutation_p.W253L|DGKI_ENST00000453654.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	253					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTGTGCACCCAGTGATGACG	0.483000													18	42					2.4624e-09	2.91413e-09	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			22	7					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498805	142498805	+	RNA	SNP	A	A	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:142498805A>T	ENST00000466254.1	+	0	81																											CCAAAAGGCCACACTGGTGTG	0.582000													8	158					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171854230	171854230	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:171854230C>T	ENST00000442919.2	-	19	2479	c.1864G>A	c.(1864-1866)Ggt>Agt	p.G622S	TLK1_ENST00000434911.2_Missense_Mutation_p.G574S|TLK1_ENST00000521943.1_Missense_Mutation_p.G622S|TLK1_ENST00000360843.3_Missense_Mutation_p.G691S|TLK1_ENST00000431350.2_Missense_Mutation_p.G670S	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	670	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACCTTTCTACCATAAAGACAC	0.353000													31	187					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942115	12942115	+	Silent	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:12942115T>C	ENST00000235349.5	-	3	505	c.435A>G	c.(433-435)ggA>ggG	p.G145G		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	145										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCTGCCGTCCTCTCATCC	0.498000													20	261					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61378608	61378608	+	RNA	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr18:61378608G>T	ENST00000544088.1	+	0	270				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ATTAAAACCAGGGTTCAAGGA	0.353000													8	65					3.09899e-07	3.49166e-07	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922251	24922251	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:24922251C>A	ENST00000329468.2	+	1	1711	c.1237C>A	c.(1237-1239)Ctg>Atg	p.L413M		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTCCCTGCCCCTGACCACTTA	0.557000													40	46					1.52319e-26	2.27785e-26	1	1	0
POU3F4	5456	broad.mit.edu	37	X	82763551	82763551	+	Silent	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:82763551C>T	ENST00000373200.2	+	1	283	c.219C>T	c.(217-219)acC>acT	p.T73T	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	73					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CACTGGCCACCAGCCCCCTGG	0.652000													5	28					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468862	86468862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:86468862C>A	ENST00000361669.2	+	4	3131	c.2032C>A	c.(2032-2034)Cag>Aag	p.Q678K	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.Q550K|GRM3_ENST00000546348.1_Missense_Mutation_p.Q270K|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	678					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAATGGCGCTCAGAGGCCAAA	0.547000													34	132					1.99505e-19	2.84144e-19	1	1	0
ZNF180	7733	broad.mit.edu	37	19	44981388	44981388	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:44981388T>A	ENST00000221327.4	-	5	1591	c.1310A>T	c.(1309-1311)tAt>tTt	p.Y437F	ZNF180_ENST00000592529.1_Missense_Mutation_p.Y410F|ZNF180_ENST00000391956.4_Missense_Mutation_p.Y412F	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATTGCATTCATAAGGCTTCTC	0.403000													30	72					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144616	55144616	+	Silent	SNP	A	A	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:55144616A>C	ENST00000396331.1	+	8	1465	c.1108A>C	c.(1108-1110)Aga>Cga	p.R370R	LILRB1_ENST00000418536.2_Silent_p.R370R|LILRB1_ENST00000396317.1_Silent_p.R370R|LILRB1_ENST00000396321.2_Silent_p.R370R|LILRB1_ENST00000396327.3_Silent_p.R370R|LILRB1_ENST00000396315.1_Silent_p.R370R|LILRB1_ENST00000324602.7_Silent_p.R370R|LILRB1_ENST00000396332.4_Silent_p.R370R|LILRB1_ENST00000434867.2_Silent_p.R370R|LILRB1_ENST00000427581.2_Silent_p.R406R|LILRB1_ENST00000448689.1_Silent_p.R370R|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	370	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ATGGCGTCTAAGATCAACGTA	0.557000										HNSCC(37;0.09)			30	105					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94155036	94155036	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr14:94155036C>A	ENST00000553484.1	+	46	7272	c.7118C>A	c.(7117-7119)cCt>cAt	p.P2373H	UNC79_ENST00000393151.2_Missense_Mutation_p.P2351H|UNC79_ENST00000256339.4_Missense_Mutation_p.P2174H|UNC79_ENST00000555664.1_Missense_Mutation_p.P2312H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2351						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGTTCCCAGCCTCTGCATGAA	0.488000													26	61					1.55469e-16	2.14914e-16	1	1	0
SDC4	6385	broad.mit.edu	37	20	43964523	43964523	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr20:43964523A>G	ENST00000372733.3	-	2	137	c.98T>C	c.(97-99)cTa>cCa	p.L33P	SDC4_ENST00000537976.1_Intron	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	33						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TCGGCCTTCTAGGAGGTCCTG	0.552000			T	ROS1	NSCLC								22	14					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253655	65253655	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr14:65253655G>C	ENST00000389722.3	-	15	3081	c.3028C>G	c.(3028-3030)Cgt>Ggt	p.R1010G	SPTB_ENST00000556626.1_Missense_Mutation_p.R1010G|SPTB_ENST00000389720.3_Missense_Mutation_p.R1010G|SPTB_ENST00000389721.5_Missense_Mutation_p.R1010G|SPTB_ENST00000542895.1_Missense_Mutation_p.R1010G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1010					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCATCCACACGGGCCTGGATG	0.607000													47	38					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600882	41600882	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:41600882A>G	ENST00000330436.3	+	8	1180	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	394					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGTGTTCCCTATGCTGGGCTC	0.567000													6	148					0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388142	119388142	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:119388142C>A	ENST00000326624.2	+	2	1100	c.872C>A	c.(871-873)cCa>cAa	p.P291Q	ZBTB33_ENST00000557385.1_Missense_Mutation_p.P291Q	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	291					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTTCTACACCACCAAATGTC	0.378000													66	96					2.18419e-29	3.35794e-29	1	1	0
KDR	3791	broad.mit.edu	37	4	55955126	55955126	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr4:55955126A>T	ENST00000263923.4	-	26	3714	c.3419T>A	c.(3418-3420)cTg>cAg	p.L1140Q	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1140	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)	CCAGCAGTCCAGCATGGTCTG	0.443000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			9	34					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72608825	72608825	+	Silent	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr17:72608825C>T	ENST00000392619.1	-	4	701	c.666G>A	c.(664-666)gtG>gtA	p.V222V	CD300E_ENST00000426295.2_Silent_p.V236V|CD300E_ENST00000328630.3_Silent_p.V195V	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	195						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGCCTGTTCACCCAGAAGA	0.632000													52	138					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814631	137814631	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:137814631C>A	ENST00000409968.1	+	3	959	c.781C>A	c.(781-783)Cca>Aca	p.P261T	THSD7B_ENST00000413152.2_Missense_Mutation_p.P230T|THSD7B_ENST00000272643.3_Missense_Mutation_p.P261T|THSD7B_ENST00000543459.1_Missense_Mutation_p.P120T					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)		AGAAATTAATCCAAGCGGAAG	0.408000													103	48					1.26289e-39	2.02678e-39	1	1	0
SNX32	254122	broad.mit.edu	37	11	65618287	65618287	+	Silent	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:65618287C>T	ENST00000308342.6	+	6	989	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	188					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TTGTGAAGTCCGCGGATGAAG	0.577000													5	35					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2933193	2933193	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:2933193G>C	ENST00000381130.2	+	4	523	c.523G>C	c.(523-525)Gcc>Ccc	p.A175P		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	175						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGTAGCCCTTGCCCTGGTTCC	0.532000													15	24					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44469181	44469181	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:44469181T>A	ENST00000251269.5	+	4	489	c.161T>A	c.(160-162)cTg>cAg	p.L54Q	ZNF221_ENST00000587682.1_Missense_Mutation_p.L54Q|ZNF221_ENST00000592350.1_Missense_Mutation_p.L54Q	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CAGAGGAAGCTGTACCGAGAT	0.517000													81	190					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222998	115222998	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:115222998C>T	ENST00000369538.3	-	5	783	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	AMPD1_ENST00000353928.6_Missense_Mutation_p.V217I|AMPD1_ENST00000520113.2_Missense_Mutation_p.V250I	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	217					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTAGGATAGACGTAAACTACA	0.448000													73	94					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79432654	79432654	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr14:79432654C>A	ENST00000554719.1	+	9	2054	c.1563C>A	c.(1561-1563)caC>caA	p.H521Q	NRXN3_ENST00000335750.5_Missense_Mutation_p.H521Q	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCCATGCACCTCTTCTTCC	0.498000													38	98					2.52637e-11	3.18458e-11	1	1	0
PDE1B	5153	broad.mit.edu	37	12	54970413	54970413	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:54970413G>T	ENST00000243052.3	+	14	1871	c.1435G>T	c.(1435-1437)Gtc>Ttc	p.V479F	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.V459F|PDE1B_ENST00000538346.1_Missense_Mutation_p.V438F|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	479	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCCTGATGTGGTCAGCTTTCG	0.577000													22	17					1.22574e-08	1.43003e-08	1	1	0
DNAJC13	23317	broad.mit.edu	37	3	132169517	132169517	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr3:132169517G>T	ENST00000260818.6	+	6	611	c.363G>T	c.(361-363)tgG>tgT	p.W121C	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	121							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGCATCACTGGAGTGACTCAA	0.323000													9	25					0.00829132	0.00855123	1	1	0
HDAC6	10013	broad.mit.edu	37	X	48663929	48663929	+	Splice_Site	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:48663929G>C	ENST00000334136.5	+	5	574	c.396_splice	c.e5+1	p.Q132_splice	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Splice_Site_p.Q132_splice|HDAC6_ENST00000444343.2_Splice_Site_p.Q146_splice|HDAC6_ENST00000413163.2_Splice_Site_p.Q77_splice			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	132	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGTCCTTTCAGGTAAGGCCCC	0.592000													6	31					0	0	1	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667714	100667714	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:100667714T>A	ENST00000316594.5	+	2	816	c.738T>A	c.(736-738)taT>taA	p.Y246*		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	246	2 X 16 AA Gly-rich approximate repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						ATGATGACTATGGTGGCTATA	0.478000													69	85					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67995580	67995580	+	Silent	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr16:67995580C>G	ENST00000422611.2	-	2	285	c.246G>C	c.(244-246)tcG>tcC	p.S82S	SLC12A4_ENST00000541864.2_Silent_p.S49S|SLC12A4_ENST00000537830.2_Silent_p.S74S|SLC12A4_ENST00000572037.1_Silent_p.S32S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000316341.3_Silent_p.S80S|SLC12A4_ENST00000576616.1_Silent_p.S80S|SLC12A4_ENST00000338335.3_Silent_p.S80S	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	80					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	p.S80S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGAAGAGACGATACCTTTG	0.637000													5	94					0	0	1	0	0
HOXC-AS3	100874365	broad.mit.edu	37	12	54378965	54378965	+	RNA	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:54378965C>A	ENST00000514702.1	-	0	44																											caaccgcgccccccctcccGG	0.532000													66	39					8.77104e-35	1.38071e-34	1	1	0
OR2A14	135941	broad.mit.edu	37	7	143826870	143826870	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:143826870C>G	ENST00000408899.2	+	1	720	c.665C>G	c.(664-666)gCc>gGc	p.A222G		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CGCATCCTGGCCGCCATCTTG	0.612000													127	229					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61170809	61170809	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr18:61170809G>C	ENST00000382771.4	+	7	1274	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	328					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AGAAATAACTGAAGATGGTGG	0.443000													29	125					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15654795	15654795	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:15654795C>A	ENST00000281171.4	+	5	1233	c.903C>A	c.(901-903)gaC>gaA	p.D301E	PTPRO_ENST00000543886.1_Missense_Mutation_p.D301E|PTPRO_ENST00000348962.2_Missense_Mutation_p.D301E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	301	Fibronectin type-III 3.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATTGGTGGGACAGTGCATCTG	0.443000													15	81					1.49906e-05	1.63851e-05	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101362389	101362389	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:101362389G>A	ENST00000344327.3	-	3	1450	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	TRPC6_ENST00000360497.4_Silent_p.V342V|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Silent_p.V342V	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	342					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAATGGCCTCGACTTCTTCAG	0.408000													20	107					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94376957	94376957	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr4:94376957C>A	ENST00000282020.4	+	11	1948	c.1690C>A	c.(1690-1692)Cca>Aca	p.P564T	GRID2_ENST00000510992.1_Missense_Mutation_p.P469T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	564					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTGTCTTGCACCATTTGATCT	0.473000													55	73					4.78724e-31	7.42926e-31	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186022957	186022957	+	Splice_Site	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:186022957G>T	ENST00000271588.4	+	44	6930	c.6700_splice	c.e44-1	p.G2234_splice	HMCN1_ENST00000367492.2_Splice_Site_p.G2234_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2234	Ig-like C2-type 20.				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						TTCTTTGTAGGCTCTCCAGTG	0.378000													36	40					2.52637e-11	3.18458e-11	1	1	0
VIT	5212	broad.mit.edu	37	2	37035897	37035897	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:37035897C>A	ENST00000379242.3	+	15	1974	c.1672C>A	c.(1672-1674)Cag>Aag	p.Q558K	VIT_ENST00000401530.1_Missense_Mutation_p.Q522K|VIT_ENST00000497382.1_Missense_Mutation_p.Q212K|VIT_ENST00000404084.1_Missense_Mutation_p.Q495K|VIT_ENST00000379241.3_Missense_Mutation_p.Q521K|VIT_ENST00000389975.3_Missense_Mutation_p.Q543K	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	543	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CACCTACGAACAGCGGCTGGA	0.587000													45	86					5.44703e-19	7.6913e-19	1	1	0
LIPG	9388	broad.mit.edu	37	18	47101931	47101931	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr18:47101931A>T	ENST00000261292.4	+	5	1042	c.764A>T	c.(763-765)aAc>aTc	p.N255I	LIPG_ENST00000580036.1_Missense_Mutation_p.N255I|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Missense_Mutation_p.N291I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	255					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGTGGACTCAACGATGTCTTG	0.483000													8	70					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196227460	196227460	+	Silent	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:196227460G>T	ENST00000367433.5	-	25	3104	c.3003C>A	c.(3001-3003)ggC>ggA	p.G1001G	KCNT2_ENST00000294725.8_Silent_p.G1025G|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.G959G			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1025						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTGTTTTGGGCCTTTTCTGC	0.493000													40	76					6.97489e-18	9.72347e-18	1	1	0
NXF5	55998	broad.mit.edu	37	X	101092603	101092603	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:101092603G>T	ENST00000537026.1	-	15	1302	c.943C>A	c.(943-945)Cac>Aac	p.H315N	NXF5_ENST00000473265.2_Missense_Mutation_p.H315N|NXF5_ENST00000361708.2_Missense_Mutation_p.H315N	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	315	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CATTTTGTGTGCTTTAGCAGC	0.532000													103	147					3.78979e-47	6.36143e-47	1	1	0
KRBA1	84626	broad.mit.edu	37	7	149419567	149419567	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:149419567G>T	ENST00000255992.10	+	6	920	c.521G>T	c.(520-522)gGg>gTg	p.G174V	KRBA1_ENST00000319551.8_Missense_Mutation_p.G174V|KRBA1_ENST00000485033.2_Missense_Mutation_p.G174V|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	174										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCTGGGCGGGGAGCCCAGC	0.627000													7	16					1.06961e-07	1.22614e-07	1	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185847	127185847	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:127185847C>A	ENST00000371124.3	-	1	535	c.339G>T	c.(337-339)ttG>ttT	p.L113F		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	113						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCCTAGGATTCAAAGAGGGCT	0.483000													106	431					6.28223e-41	1.01815e-40	1	1	0
NRP2	8828	broad.mit.edu	37	2	206659769	206659769	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:206659769G>T	ENST00000360409.3	+	17	3574	c.2783G>T	c.(2782-2784)tGc>tTc	p.C928F	NRP2_ENST00000412873.2_Missense_Mutation_p.C906F|NRP2_ENST00000540841.1_Missense_Mutation_p.C906F|NRP2_ENST00000540178.1_Missense_Mutation_p.C923F|NRP2_ENST00000357785.5_Missense_Mutation_p.C923F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	928					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAAAAGTGCTGCTCCGAGGCA	0.493000													5	32					1.024e-07	1.17796e-07	1	1	0
MYRIP	25924	broad.mit.edu	37	3	40231369	40231369	+	Silent	SNP	T	T	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr3:40231369T>C	ENST00000302541.6	+	10	1422	c.1080T>C	c.(1078-1080)gaT>gaC	p.D360D	MYRIP_ENST00000425621.1_Silent_p.D360D|MYRIP_ENST00000396217.3_Silent_p.D271D|MYRIP_ENST00000444716.1_Silent_p.D360D|MYRIP_ENST00000539167.1_Silent_p.D173D|MYRIP_ENST00000459828.1_3'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	360	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCCTGAAGGATGGCGCTCCAC	0.602000													55	42					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921285	247921285	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:247921285C>A	ENST00000408896.2	-	1	697	c.424G>T	c.(424-426)Gtc>Ttc	p.V142F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACTAGCTGGACACAAAGGCAC	0.502000													43	52					9.84934e-19	1.3848e-18	1	1	0
DGKI	9162	broad.mit.edu	37	7	137330263	137330263	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:137330263C>G	ENST00000424189.2	-	6	988	c.759G>C	c.(757-759)tgG>tgC	p.W253C	DGKI_ENST00000288490.5_Missense_Mutation_p.W253C|DGKI_ENST00000446122.1_Missense_Mutation_p.W253C|DGKI_ENST00000453654.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	253					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCCTGTGCACCCAGTGATGAC	0.483000													18	43					0	0	1	0	0
GJB7	375519	broad.mit.edu	37	6	87993960	87993960	+	Nonstop_Mutation	SNP	C	C	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:87993960C>G	ENST00000525899.1	-	3	1016	c.671G>C	c.(670-672)tGa>tCa	p.*224S	GJB7_ENST00000296882.3_Nonstop_Mutation_p.*224S	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	0					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CTGTGGCACTCACACACTGAG	0.418000													21	28					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19571780	19571780	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr5:19571780G>A	ENST00000507958.1	-	10	2151	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	CDH18_ENST00000274170.4_Silent_p.S387S|CDH18_ENST00000506372.1_Silent_p.S387S|CDH18_ENST00000382275.1_Silent_p.S387S|CDH18_ENST00000502796.1_Silent_p.S387S|CDH18_ENST00000511273.1_Silent_p.S387S			Q13634	CAD18_HUMAN	cadherin 18, type 2	387	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCATGAGGTAGGAAGGCATGG	0.428000													17	85					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69649393	69649393	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:69649393G>T	ENST00000453994.2	+	11	1348	c.987G>T	c.(985-987)gaG>gaT	p.E329D	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Missense_Mutation_p.E329D|GDPD2_ENST00000536730.1_Missense_Mutation_p.E250D|GDPD2_ENST00000538649.1_Missense_Mutation_p.E250D	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	329	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ATCAGAAAGAGGCTGAGAGTC	0.537000													26	47					4.4004e-07	4.92426e-07	1	1	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45670054	45670054	+	RNA	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr10:45670054G>T	ENST00000422807.1	-	0	346																											AAGGTTAAATGGGAACAAGAG	0.284000													3	1					0.004672	0.00484886	1	1	0
SSPO	23145	broad.mit.edu	37	7	149516410	149516410	+	RNA	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr7:149516410C>A	ENST00000378016.2	+	0	11813							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGTGTGCCCTGGCCCTGGC	0.687000													21	23					1.9806e-07	2.23923e-07	1	1	0
EEF2	1938	broad.mit.edu	37	19	3984259	3984259	+	Silent	SNP	G	G	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr19:3984259G>A	ENST00000309311.6	-	2	181	c.93C>T	c.(91-93)ggC>ggT	p.G31G	EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	31						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGGACTTGCCATGGTCCA	0.617000													55	78					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126181048	126181048	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr3:126181048A>G	ENST00000389709.3	-	6	1510	c.1457T>C	c.(1456-1458)cTa>cCa	p.L486P	ZXDC_ENST00000336332.5_Missense_Mutation_p.L486P	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	486					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CGGAGCTTCTAGCTGAGGTAA	0.448000													58	51					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188244	32188244	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:32188244G>T	ENST00000375023.3	-	6	1235	c.1097C>A	c.(1096-1098)cCg>cAg	p.P366Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	366	EGF-like 9; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTGGATCCCGGGGCACAGGT	0.602000													95	103					1.43847e-43	2.3545e-43	1	1	0
MAGEE1	57692	broad.mit.edu	37	X	75649328	75649328	+	Silent	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:75649328C>A	ENST00000361470.2	+	1	1283	c.1005C>A	c.(1003-1005)acC>acA	p.T335T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	335	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGCCGCCCACCGCCACTGAGG	0.687000													13	22					1.61879e-10	2.00219e-10	1	1	0
MED12	9968	broad.mit.edu	37	X	70345277	70345277	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:70345277G>C	ENST00000333646.6	+	16	2502	c.2303G>C	c.(2302-2304)cGc>cCc	p.R768P	MED12_ENST00000374102.1_Missense_Mutation_p.R768P|MED12_ENST00000374080.3_Missense_Mutation_p.R768P	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	768					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GATGATGCCCGCCATGCCATC	0.532000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						23	31					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009288	120009288	+	Silent	SNP	C	C	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:120009288C>A	ENST00000371311.3	-	1	491	c.237G>T	c.(235-237)ggG>ggT	p.G79G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	79										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCGGCGCTCCCGCCCTGGG	0.721000													28	32					2.44723e-14	3.27292e-14	1	1	0
CYP4Z2P	163720	broad.mit.edu	37	1	47309278	47309278	+	RNA	DEL	T	T	-			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr1:47309278delT	ENST00000505841.1	-	0	1352					NR_002788.2																						ACAAGATCCATTTTTTTTTCT	0.358													2	4	---	---	---	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)afs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													8	162	---	---	---	---					
BOD1L1	259282	broad.mit.edu	37	4	13582680	13582681	+	Splice_Site	INS	-	-	A			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr4:13582680_13582681insA	ENST00000040738.5	-	21	8804		c.e21-2			NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1								DNA binding										AGTCGTCTTCTAAAAAAAAAAA	0.337													2	4	---	---	---	---					
ZSCAN16	80345	broad.mit.edu	37	6	28093240	28093240	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:28093240delC	ENST00000340487.4	+	2	168	c.19delC	c.(19-21)ctfs	p.P7fs	RP1-265C24.9_ENST00000602810.1_RNA|RP1-265C24.9_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	7					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGCCCTGGAACCTGAGGACCA	0.483													31	231	---	---	---	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctc>ct	p.LC138del				Q99750	MDFI_HUMAN	MyoD family inhibitor	199					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													7	166	---	---	---	---					
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttg>t	p.LL23del	CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	23					innate immune response	endoplasmic reticulum		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695													4	8	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90556397	90556398	+	RNA	INS	-	-	T			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr6:90556397_90556398insT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTCTAAtttccttttttttttt	0.421													2	4	---	---	---	---					
SMC3	9126	broad.mit.edu	37	10	112361781	112361781	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr10:112361781delA	ENST00000361804.4	+	25	3076	c.2950delA	c.(2950-2952)aafs	p.K985fs		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	985					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CCATGTTAACAAAAAGGCTTT	0.308													25	55	---	---	---	---					
ARHGEF12	23365	broad.mit.edu	37	11	120351075	120351095	+	In_Frame_Del	DEL	GAATCCATCAGAAGGTGATGG	GAATCCATCAGAAGGTGATGG	-			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr11:120351075_120351095delGAATCCATCAGAAGGTGATGG	ENST00000397843.2	+	38	4339_4359	c.4173_4193delGAATCCATCAGAAGGTGATGG	c.(4171-4194)gaa>ga	p.ENPSEGDG1391del	ARHGEF12_ENST00000532993.1_In_Frame_Del_p.ENPSEGDG1288del|ARHGEF12_ENST00000356641.3_In_Frame_Del_p.ENPSEGDG1372del	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1391					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|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	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.G1398R(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATAGTGATGAGAATCCATCAGAAGGTGATGGAGCAGTTAAC	0.421			T	MLL	AML								18	116	---	---	---	---					
PRKAB1	5564	broad.mit.edu	37	12	120110200	120110201	+	Frame_Shift_Ins	INS	-	-	G	rs115821895	byFrequency	TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr12:120110200_120110201insG	ENST00000229328.5	+	2	746_747	c.254_255insG	c.(253-255)aggfs	p.R85fs	PRKAB1_ENST00000541640.1_Frame_Shift_Ins_p.R85fs|PRKAB1_ENST00000540121.1_5'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	85					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGAA	0.520													52	180	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													4	6	---	---	---	---					
TBC1D20	128637	broad.mit.edu	37	20	419307	419314	+	Frame_Shift_Del	DEL	GTGCCACT	GTGCCACT	-			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chr20:419307_419314delGTGCCACT	ENST00000354200.4	-	8	1275_1282	c.1128_1135delAGTGGCAC	c.(1126-1137)acttfs	p.TVAL376fs	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	376					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GCCGCTCCAAGTGCCACTGTCAGCCCCA	0.548													69	147	---	---	---	---					
AKAP17A	8227	broad.mit.edu	37	X	1718125	1718126	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:1718125_1718126delAG	ENST00000313871.3	+	4	1148_1149	c.952_953delAG	c.(952-954)afs	p.R318fs	AKAP17A_ENST00000381261.3_Frame_Shift_Del_p.R318fs	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	318					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AGAGAGGAAAAGAGAAGAGAAG	0.584													7	37	---	---	---	---					
PHKA2	5256	broad.mit.edu	37	X	18942173	18942173	+	Splice_Site	DEL	C	C	-			TCGA-55-A494-01A-11D-A24P-08	TCGA-55-A494-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4043e60f-b938-4a8f-8856-bfab70140602	b6ce6bb8-0633-4a39-a810-46759e6038bc	g.chrX:18942173delC	ENST00000379942.4	-	17	2459		c.e17+1			NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCACAAATTACCTGGCTCCTC	0.348													49	94	---	---	---	---