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
KDM5B	10765	broad.mit.edu	37	1	202727567	202727567	+	Silent	SNP	C	C	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:202727567C>A	ENST00000367265.3	-	9	2313	c.1149G>T	c.(1147-1149)ggG>ggT	p.G383G	KDM5B_ENST00000367264.2_Silent_p.G419G|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	383					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGCCATTTCCCCAAAAGTAC	0.378000													11	21					0.00010058	0.000108962	1	1	0
ITPR3	3710	broad.mit.edu	37	6	33638466	33638466	+	Silent	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr6:33638466C>T	ENST00000374316.5	+	21	3520	c.2460C>T	c.(2458-2460)aaC>aaT	p.N820N	ITPR3_ENST00000605930.1_Silent_p.N820N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	820					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCAACCTCAACGCGTCCCGAG	0.587000													4	33					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129450	76129450	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr5:76129450G>A	ENST00000296677.4	+	2	1224	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	340					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGCTGCATCGACCCCTTTGT	0.473000													30	332					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207288791	207288791	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:207288791G>A	ENST00000367070.3	+	4	553	c.359G>A	c.(358-360)cGt>cAt	p.R120H		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	120	Sushi 2.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GGAGAGTTACGTAATGGGCAA	0.363000													13	20					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188689	57188689	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:57188689C>T	ENST00000331162.4	-	5	703	c.433G>A	c.(433-435)Gtt>Att	p.V145I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATTGGTTAACTTCACTATAA	0.313000													42	72					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404020	20404020	+	Silent	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr14:20404020T>C	ENST00000285600.4	+	1	254	c.195T>C	c.(193-195)aaT>aaC	p.N65N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGCTCAGTAATCTTTCTTTCA	0.383000													6	299					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140960428	140960428	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr5:140960428T>C	ENST00000253811.6	-	8	847	c.707A>G	c.(706-708)gAg>gGg	p.E236G	DIAPH1_ENST00000398557.4_Missense_Mutation_p.E236G|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E236G|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E227G|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E182G|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E227G|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E227G|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E227G			O60610	DIAP1_HUMAN	diaphanous-related formin 1	236	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTCTGTCTCCAACATGGT	0.453000													11	20					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41007853	41007853	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:41007853G>C	ENST00000352632.3	+	8	896	c.810G>C	c.(808-810)gaG>gaC	p.E270D	SPTBN4_ENST00000344104.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E270D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E270D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	270	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCCAGATGAGAAGTCCATCA	0.507000													45	95					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11546952	11546952	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:11546952T>C	ENST00000252455.2	+	2	350	c.14T>C	c.(13-15)cTg>cCg	p.L5P	PRKCSH_ENST00000589838.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000591462.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000592741.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000587327.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000412601.1_Missense_Mutation_p.L5P	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	5					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ctgttgccgctgctgctgctg	0.647000											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1944796	1944796	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:1944796G>A	ENST00000381558.1	+	4	322	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	TNNT3_ENST00000360603.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381548.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381579.3_Missense_Mutation_p.E15K|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000278317.6_Missense_Mutation_p.E15K|TNNT3_ENST00000397301.1_Missense_Mutation_p.E15K|TNNT3_ENST00000381561.4_Missense_Mutation_p.E15K|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381549.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381589.3_Missense_Mutation_p.E15K			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	15					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GCAGTACGAAGAAGAAGGTAA	0.612000													14	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440628	179440628	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:179440628C>T	ENST00000589042.1	-	326	70455	c.70231G>A	c.(70231-70233)Ggt>Agt	p.G23411S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21770S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20843S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14538S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14346S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14471S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21770	Fibronectin type-III 70.						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)			ACAAATTTACCGGTATCATAT	0.448000													50	119					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40498485	40498485	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr15:40498485C>T	ENST00000287598.6	+	15	2030	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	BUB1B_ENST00000412359.3_Missense_Mutation_p.A626V	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	612					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTGACTTTGCCAGAGCAGCT	0.428000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				3	46					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115231190	115231190	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:115231190T>G	ENST00000369538.3	-	2	341	c.294A>C	c.(292-294)gaA>gaC	p.E98D	AMPD1_ENST00000520113.2_Missense_Mutation_p.E102D|AMPD1_ENST00000353928.6_Missense_Mutation_p.E69D	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	69					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)	ACCTCCTGGCTTCTGTGGAGG	0.463000													8	84					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52538169	52538169	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:52538169G>C	ENST00000594154.1	-	5	975	c.763C>G	c.(763-765)Cat>Gat	p.H255D	ZNF432_ENST00000221315.5_Missense_Mutation_p.H255D			O94892	ZN432_HUMAN	zinc finger protein 432	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCTTTTATGAATTCTTTGA	0.378000													53	19					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50055824	50055824	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr12:50055824C>T	ENST00000335154.5	-	5	610	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	FMNL3_ENST00000550488.1_Missense_Mutation_p.R126Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.R126Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R126Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	126	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R126Q(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGAAATTCCCGCACCCACCT	0.527000													10	20					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5719736	5719736	+	Silent	SNP	C	C	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:5719736C>G	ENST00000379965.3	+	4	988	c.711C>G	c.(709-711)ctC>ctG	p.L237L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	237					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCTCAGATCTCCAGCGGAGGT	0.542000													3	15					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056459	120056459	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:120056459A>G	ENST00000235547.6	+	4	458	c.319A>G	c.(319-321)Acc>Gcc	p.T107A	HSD3B1_ENST00000528909.1_Missense_Mutation_p.T105A|HSD3B1_ENST00000369413.3_Missense_Mutation_p.T105A	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	105					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATGGACAGGTACCCAGCTCCT	0.507000													5	292					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													4	89					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577536	7577536	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr17:7577536T>C	ENST00000420246.2	-	7	877	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000269305.4_Missense_Mutation_p.R249G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGATGGGCCTCCGGTTCATG	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	7					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								34	31					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715496	222715496	+	Splice_Site	SNP	C	C	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:222715496C>G	ENST00000343410.6	-	3	1034	c.976G>C	c.(976-978)Gtc>Ctc	p.V326L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	326					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCAAGATGACCCTGGAAGAG	0.473000													4	44					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178417043	178417043	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:178417043C>A	ENST00000408939.3	-	1	699	c.449G>T	c.(448-450)gGc>gTc	p.G150V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCATTCTCGCCCCCACTTTC	0.587000													5	208					0.0293803	0.0293803	1	1	0
GRM3	2913	broad.mit.edu	37	7	86415600	86415600	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:86415600C>G	ENST00000361669.2	+	3	1591	c.492C>G	c.(490-492)ttC>ttG	p.F164L	GRM3_ENST00000439827.1_Missense_Mutation_p.F164L|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.F36L|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.F162L|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	164					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)	TGCGGCTCTTCCAGATCCCTC	0.527000													41	86					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156828909	156828909	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr4:156828909T>A	ENST00000536354.2	+	4	332	c.268T>A	c.(268-270)Ttg>Atg	p.L90M		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	90					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CCTCTGGGAGTTGGATTCTGT	0.338000													8	57					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25194757	25194757	+	Silent	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:25194757G>A	ENST00000409280.1	-	6	776	c.468C>T	c.(466-468)cgC>cgT	p.R156R	C7orf31_ENST00000283905.3_Silent_p.R156R			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	156										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ACATGGCGCCGCGACAGATGT	0.502000													6	43					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153317725	153317725	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:153317725G>T	ENST00000368739.3	-	4	619	c.261C>A	c.(259-261)gaC>gaA	p.D87E	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D91E|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	91					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACTGTCTGGTCGTGACACT	0.562000													15	29					0.000219431	0.000232866	1	1	0
CSDE1	7812	broad.mit.edu	37	1	115282476	115282476	+	Silent	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:115282476T>C	ENST00000438362.2	-	3	552	c.174A>G	c.(172-174)ggA>ggG	p.G58G	CSDE1_ENST00000358528.4_Silent_p.G12G|CSDE1_ENST00000369530.1_Silent_p.G58G|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000261443.5_Silent_p.G12G|CSDE1_ENST00000339438.6_Silent_p.G12G|CSDE1_ENST00000534699.1_Silent_p.G12G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	12	CSD 1.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		ACCCATTATGTCCATTGTTGT	0.368000													13	314					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186057402	186057402	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:186057402C>T	ENST00000271588.4	+	62	9800	c.9571C>T	c.(9571-9573)Cgc>Tgc	p.R3191C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3191C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3191	Ig-like C2-type 30.				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						GAACCACAAGCGCATAGGTAA	0.418000													23	28					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185068	56185068	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:56185068A>G	ENST00000312253.1	-	1	640	c.641T>C	c.(640-642)gTc>gCc	p.V214A		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	214					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)					GGAGGTGAGGACAATGGAAGA	0.473000													23	31					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28906646	28906646	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr10:28906646A>G	ENST00000375664.4	+	13	2281	c.1672A>G	c.(1672-1674)Act>Gct	p.T558A	WAC_ENST00000354911.4_Missense_Mutation_p.T603A|WAC_ENST00000347934.4_Missense_Mutation_p.T500A|WAC_ENST00000375646.1_Missense_Mutation_p.T451A			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CGAAATTTGTACTGAATTAAA	0.303000													37	39					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58139287	58139287	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr3:58139287G>A	ENST00000295956.4	+	39	6718	c.6553G>A	c.(6553-6555)Gtg>Atg	p.V2185M	FLNB_ENST00000348383.5_Missense_Mutation_p.V2144M|FLNB_ENST00000490882.1_Missense_Mutation_p.V2216M|FLNB_ENST00000429972.2_Missense_Mutation_p.V2174M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1992M|FLNB_ENST00000419752.2_Missense_Mutation_p.V2005M|FLNB_ENST00000358537.3_Missense_Mutation_p.V2161M|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2185	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAGTTCACCGTGGGGCCACT	0.667000													6	35					0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5655971	5655971	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:5655971G>C	ENST00000354852.5	+	10	1865	c.1692G>C	c.(1690-1692)aaG>aaC	p.K564N	TRIM34_ENST00000514226.1_Missense_Mutation_p.K210N|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K210N|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.K210N	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		564						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AAGAAGAAAAGAAGACGCTGG	0.443000													3	48					0	0	1	0	0
MS4A4E	643680	broad.mit.edu	37	11	59997411	59997411	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:59997411A>G	ENST00000528394.1	-	1	117	c.118T>C	c.(118-120)Ttc>Ctc	p.F40L	MS4A4E_ENST00000427611.2_Silent_p.S15S|MS4A4E_ENST00000398986.2_Missense_Mutation_p.F40L|MS4A4E_ENST00000526086.1_Missense_Mutation_p.F40L|MS4A4E_ENST00000398984.2_Missense_Mutation_p.F40L|MS4A4E_ENST00000425663.1_Missense_Mutation_p.F40L					membrane-spanning 4-domains, subfamily A, member 4E											ovary(1)	1						TTCCTCTTGAAGAACTTCTCT	0.443000													6	11					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515394	56515394	+	Silent	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:56515394G>A	ENST00000390649.3	+	2	375	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	125	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGGCTACGTCCATTAGCA	0.502000													16	4					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7586808	7586808	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:7586808G>A	ENST00000299492.4	+	3	477	c.89G>A	c.(88-90)aGt>aAt	p.S30N		NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	30					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAGATCTTAGTGATGGTACT	0.527000													5	132					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163030247	163030247	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:163030247G>C	ENST00000188790.4	-	23	2227	c.2020C>G	c.(2020-2022)Ctt>Gtt	p.L674V	FAP_ENST00000443424.1_Missense_Mutation_p.L649V	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	674					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAGTGCTCAAGATTATCATCC	0.299000													6	134					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													7	231					5.18039e-06	5.7315e-06	1	1	0
DENND5A	23258	broad.mit.edu	37	11	9163597	9163597	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:9163597G>C	ENST00000328194.3	-	22	3890	c.3570C>G	c.(3568-3570)aaC>aaG	p.N1190K	DENND5A_ENST00000530044.1_Missense_Mutation_p.N1190K|DENND5A_ENST00000527700.1_Missense_Mutation_p.N533K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1190	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGTATGCCAGTTTTCCTCAG	0.453000													9	70					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17954555	17954557	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:17954555_17954557delTTA	ENST00000381254.2	+	10	1274_1276	c.1060_1062delTTA	c.(1060-1062)ttadel	p.L355del	GEN1_ENST00000317402.7_In_Frame_Del_p.L355del|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	355					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACCTGATTTGTTATTGTTTCAGG	0.320								Homologous recombination					14	43	---	---	---	---					
LOC146880	146880	broad.mit.edu	37	17	62750914	62750914	+	RNA	DEL	T	T	-			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr17:62750914delT	ENST00000400873.3	-	0	1841					NR_026899.1																						CTGATTATGCttttttttttg	0.433													3	5	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43428981	43428982	+	RNA	INS	-	-	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:43428981_43428982insG	ENST00000406070.2	-	0	1340					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tccagtctacagtggataataa	0.406													3	6	---	---	---	---					
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698													10	9	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937741	76937744	+	Frame_Shift_Del	DEL	TTAC	TTAC	-			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chrX:76937741_76937744delTTAC	ENST00000373344.5	-	9	3218_3221	c.3004_3007delGTAA	c.(3004-3009)gtaattfs	p.VI1002fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.VI964fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1002					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCATTTTAATTACTTTTTTCTTA	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						71	21	---	---	---	---					
ARMCX1	51309	broad.mit.edu	37	X	100808802	100808803	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chrX:100808802_100808803insTC	ENST00000372829.3	+	4	1260_1261	c.889_890insTC	c.(889-891)gtcfs	p.V297fs		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	297						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TGACACCATGGTCTGTCGCTTG	0.426													8	34	---	---	---	---					
