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
PCDHGC3	5098	broad.mit.edu	37	5	140855927	140855927	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr5:140855927G>C	ENST00000308177.3	+	1	348	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAACCGGGAGACCGGAGA	0.572000													7	120					0	0	0.038147	0	0
HECW1	23072	broad.mit.edu	37	7	43519316	43519316	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:43519316G>A	ENST00000395891.1	+	17	3812	c.3207G>A	c.(3205-3207)caG>caA	p.Q1069Q	HECW1_ENST00000453890.1_Silent_p.Q1035Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1069					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCACCTCCAGAGGCTCCGAA	0.557000													7	120					0	0	0.029380	0	0
SEZ6	124925	broad.mit.edu	37	17	27286455	27286455	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:27286455C>T	ENST00000317338.12	-	9	2235	c.1807G>A	c.(1807-1809)Gtg>Atg	p.V603M	SEZ6_ENST00000442608.3_Missense_Mutation_p.V603M|SEZ6_ENST00000360295.9_Missense_Mutation_p.V603M|SEZ6_ENST00000335960.6_Intron|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	603	CUB 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GAGAGTACCACGCCAGCCGAG	0.587000													13	42					0	0	0.105934	0	0
ACSBG1	23205	broad.mit.edu	37	15	78465941	78465941	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr15:78465941C>G	ENST00000258873.4	-	13	2288	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E453Q|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E453Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	695					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTACCCAACTCTCCACCCGAA	0.587000													8	43					0	0	0.038147	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819099	159819099	+	RNA	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:159819099C>G	ENST00000497452.1	-	0	517																											CAAGTGCTTTCTTTTCATTTC	0.373000													12	67					0	0	0.080935	0	0
MAP6	4135	broad.mit.edu	37	11	75316987	75316987	+	Silent	SNP	C	C	T	rs139425764	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:75316987C>T	ENST00000434603.2	-	3	1246	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	MAP6_ENST00000304771.3_Silent_p.T394T|MAP6_ENST00000526740.1_Silent_p.T65T	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	394	Calmodulin-binding (By similarity).					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGGCCTTCCTCGTGGGCTTAT	0.532000													14	40					0	0	0.024245	0	0
XIRP2	129446	broad.mit.edu	37	2	168106863	168106863	+	Silent	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:168106863G>C	ENST00000409195.1	+	9	9050	c.8961G>C	c.(8959-8961)ctG>ctC	p.L2987L	XIRP2_ENST00000409273.1_Silent_p.L2765L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L2987L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2812					actin cytoskeleton organization	cell junction	actin binding	p.L2987L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGATGGCTGATAAGTGAAG	0.343000													22	96					0	0	0.076483	0	0
TRPC4	7223	broad.mit.edu	37	13	38320194	38320194	+	Silent	SNP	C	C	T	rs115609911	by1000genomes	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:38320194C>T	ENST00000379705.3	-	3	1634	c.777G>A	c.(775-777)acG>acA	p.T259T	TRPC4_ENST00000379681.3_Silent_p.T259T|TRPC4_ENST00000358477.2_Silent_p.T259T|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Silent_p.T259T|TRPC4_ENST00000426868.2_Silent_p.T259T|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000447043.1_Silent_p.T259T|TRPC4_ENST00000355779.2_Silent_p.T259T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	259	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGGAACTTCTCGTCTGATCCA	0.408000													11	115					0	0	0.069234	0	0
OLFM3	118427	broad.mit.edu	37	1	102290711	102290711	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:102290711C>G	ENST00000370103.4	-	4	676	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	OLFM3_ENST00000536598.1_Missense_Mutation_p.E80Q|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.E175Q|OLFM3_ENST00000359814.3_Missense_Mutation_p.E175Q	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	175						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTTATTTCCTCCTTGAACTGG	0.458000													7	26					0	0	0.038147	0	0
CXorf66	347487	broad.mit.edu	37	X	139038791	139038791	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:139038791T>A	ENST00000370540.1	-	3	373	c.350A>T	c.(349-351)gAc>gTc	p.D117V		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	117	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AGATGACTTGTCTGCAGTAGA	0.438000													10	60					0	0	0.080935	0	0
OR51A2	401667	broad.mit.edu	37	11	4976057	4976057	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:4976057T>G	ENST00000380371.1	-	1	886	c.887A>C	c.(886-888)aAa>aCa	p.K296T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTTTAGTTTTTACACAATA	0.388000													6	73					0	0	0.029380	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209061	3209061	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:3209061G>A	ENST00000380059.3	-	19	2632	c.2531C>T	c.(2530-2532)cCg>cTg	p.P844L	SLC4A11_ENST00000380056.3_Missense_Mutation_p.P817L|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.P801L	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	817	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTAGTGTGTCGGGGGGTACGC	0.672000													16	97					0	0	0.033300	0	0
BCL11A	53335	broad.mit.edu	37	2	60688312	60688312	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:60688312C>T	ENST00000335712.6	-	4	1962	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.E579K|BCL11A_ENST00000358510.4_Missense_Mutation_p.E545K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.E545K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E248K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	579					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)			CTGTGGCCCTCGGCCTCGGCC	0.667000			T	IGH@	B-CLL								6	24					0	0	0.021553	0	0
NCF2	4688	broad.mit.edu	37	1	183529328	183529328	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:183529328C>G	ENST00000413720.1	-	13	1510	c.1236G>C	c.(1234-1236)aaG>aaC	p.K412N	NCF2_ENST00000418089.1_Missense_Mutation_p.K376N|NCF2_ENST00000367535.3_Missense_Mutation_p.K457N|NCF2_ENST00000367536.1_Missense_Mutation_p.K457N	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	457	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GGCTGCCTTTCTTAAGCTGAG	0.463000													7	167					0	0	0.038147	0	0
MYT1	4661	broad.mit.edu	37	20	62839693	62839693	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:62839693G>C	ENST00000536311.1	+	7	1508	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E382Q			Q01538	MYT1_HUMAN	myelin transcription factor 1	382					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGGCCTCCTGGAGCAGGCCAT	0.647000													11	50					0	0	0.093190	0	0
AIFM2	84883	broad.mit.edu	37	10	71874076	71874076	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:71874076G>A	ENST00000307864.1	-	9	1193	c.980C>T	c.(979-981)aCg>aTg	p.T327M	AIFM2_ENST00000373248.1_Missense_Mutation_p.T327M	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	327					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CAGGAGGAACGTCAGTGCACC	0.592000													12	39					0	0	0.093190	0	0
CNST	163882	broad.mit.edu	37	1	246810955	246810955	+	Silent	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:246810955G>C	ENST00000366513.4	+	9	1721	c.1452G>C	c.(1450-1452)ctG>ctC	p.L484L	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.L484L	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	484					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TAAATGAGCTGCAGCAGCCTG	0.468000													15	80					0	0	0.028581	0	0
EPC1	80314	broad.mit.edu	37	10	32582604	32582604	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:32582604C>T	ENST00000319778.6	-	3	677	c.375G>A	c.(373-375)gtG>gtA	p.V125V	EPC1_ENST00000375110.2_Silent_p.V75V|EPC1_ENST00000263062.8_Silent_p.V125V	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	125					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TCAGTTTATTCACAAATACTT	0.383000													8	36					0	0	0.038147	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	66					0	0	0.038147	0	0
C11orf35	256329	broad.mit.edu	37	11	557988	557988	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:557988C>G	ENST00000329451.3	-	5	513	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	151										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTCCATCTCCTGGAGCGTG	0.657000													11	25					0	0	0.069234	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798870	113798870	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:113798870C>A	ENST00000281273.4	+	8	1121	c.864C>A	c.(862-864)ttC>ttA	p.F288L	QTRTD1_ENST00000485050.1_Missense_Mutation_p.F300L|QTRTD1_ENST00000479882.1_Missense_Mutation_p.F165L|QTRTD1_ENST00000493014.1_Missense_Mutation_p.F182L	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	288					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CCCTGACTTTCAGTTTTGATT	0.413000													32	194					6.70999e-13	7.46486e-13	0.069456	1	0
MIER2	54531	broad.mit.edu	37	19	327204	327204	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:327204G>T	ENST00000264819.4	-	5	432	c.422C>A	c.(421-423)tCa>tAa	p.S141*		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAGCAGATGATTGCGTCTC	0.468000													12	216					3.07112e-06	3.33329e-06	0.080935	1	0
SLC4A10	57282	broad.mit.edu	37	2	162735688	162735688	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:162735688G>A	ENST00000375514.5	+	9	1226	c.939G>A	c.(937-939)tcG>tcA	p.S313S	SLC4A10_ENST00000272716.5_Silent_p.S302S|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Silent_p.S332S|SLC4A10_ENST00000421911.1_Silent_p.S332S|SLC4A10_ENST00000415876.2_Silent_p.S302S|SLC4A10_ENST00000535165.1_Silent_p.S332S	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	332					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTGAAGCATCGAACATCTTAG	0.418000													9	51					0	0	0.047766	0	0
CHMP4C	92421	broad.mit.edu	37	8	82670413	82670413	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:82670413G>A	ENST00000297265.4	+	4	713	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	174	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						ATTGGAACAGGAGGAATTAAA	0.433000													4	52					0	0	0.009096	0	0
TFDP1	7027	broad.mit.edu	37	13	114290326	114290326	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:114290326G>A	ENST00000375370.5	+	9	934	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	TFDP1_ENST00000544902.1_Missense_Mutation_p.R146Q|TFDP1_ENST00000538138.1_Missense_Mutation_p.R146Q	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	241	DCB1.|Dimerization (Potential).|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CAGAGAAACCGGCATGCGGAG	0.587000										TSP Lung(29;0.18)			9	70					0	0	0.058154	0	0
NUP210L	91181	broad.mit.edu	37	1	154018842	154018842	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:154018842C>T	ENST00000368559.3	-	26	3558	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1163K|NUP210L_ENST00000368553.1_Missense_Mutation_p.E96K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1163						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATCTGTACTTCATCCTGCTCA	0.463000													7	36					0	0	0.029380	0	0
PDK1	5163	broad.mit.edu	37	2	173429352	173429352	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:173429352C>G	ENST00000410055.1	+	4	632	c.532C>G	c.(532-534)Cag>Gag	p.Q178E	PDK1_ENST00000544863.1_Missense_Mutation_p.Q23E|PDK1_ENST00000543905.1_Missense_Mutation_p.Q102E|PDK1_ENST00000392571.2_Missense_Mutation_p.Q198E|PDK1_ENST00000282077.2_Missense_Mutation_p.Q178E	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	178	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCAGAATGTTCAGTACTTTTT	0.433000									Autosomal Dominant Polycystic Kidney Disease				6	65					0	0	0.029380	0	0
C16orf91	283951	broad.mit.edu	37	16	1470057	1470057	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:1470057G>C	ENST00000310355.1	-	5	957	c.958C>G	c.(958-960)Cct>Gct	p.P320A	C16orf91_ENST00000563974.1_3'UTR|C16orf91_ENST00000442039.2_3'UTR			Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCCAGGCGAGGAGCAGTTTCC	0.537000													31	74					0	0	0.041601	0	0
GTPBP4	23560	broad.mit.edu	37	10	1042133	1042133	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:1042133G>A	ENST00000360803.4	+	4	493	c.411G>A	c.(409-411)atG>atA	p.M137I	GTPBP4_ENST00000538293.1_Missense_Mutation_p.M21I|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Missense_Mutation_p.M90I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	137					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGGGACGGATGTGCACAGTGA	0.512000													3	17					0	0	0.009096	0	0
PTGER2	5732	broad.mit.edu	37	14	52794009	52794009	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:52794009C>G	ENST00000245457.5	+	2	1068	c.914C>G	c.(913-915)tCa>tGa	p.S305*	PTGER2_ENST00000557436.1_Nonsense_Mutation_p.S50*	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	305						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	AGGTTTTTATCAATTAATTCA	0.388000													13	47					0	0	0.020292	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:1266085C>G	ENST00000447027.1	+	31	8042	c.7984C>G	c.(7984-7986)Ccc>Gcc	p.P2662A	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000													4	21					0	0	0.009096	0	0
CHGA	1113	broad.mit.edu	37	14	93397717	93397717	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:93397717G>A	ENST00000216492.5	+	6	758	c.478G>A	c.(478-480)Gag>Aag	p.E160K	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	160					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GCCCATGCAGGAGTCCAAGGC	0.617000													4	20					0	0	0.014758	0	0
CHD7	55636	broad.mit.edu	37	8	61764696	61764696	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:61764696G>A	ENST00000423902.2	+	29	6263	c.5784G>A	c.(5782-5784)caG>caA	p.Q1928Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1928					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAGGCAACAGATGAGGCAAG	0.527000													7	41					0	0	0.029380	0	0
TTN	7273	broad.mit.edu	37	2	179411461	179411461	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:179411461G>C	ENST00000589042.1	-	341	94918	c.94694C>G	c.(94693-94695)tCt>tGt	p.S31565C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29924C|TTN_ENST00000342175.6_Missense_Mutation_p.S22692C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22500C|TTN_ENST00000342992.6_Missense_Mutation_p.S28997C|TTN_ENST00000359218.5_Missense_Mutation_p.S22625C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29924							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)			GAAATTGTCAGATACAATGGT	0.483000													15	43					0	0	0.028581	0	0
CXorf66	347487	broad.mit.edu	37	X	139038792	139038792	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:139038792C>A	ENST00000370540.1	-	3	372	c.349G>T	c.(349-351)Gac>Tac	p.D117Y		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	117	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GATGACTTGTCTGCAGTAGAT	0.438000													10	62					2.80697e-09	3.08421e-09	0.080935	1	0
TTN	7273	broad.mit.edu	37	2	179585815	179585815	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:179585815C>T	ENST00000589042.1	-	79	23155	c.22931G>A	c.(22930-22932)cGa>cAa	p.R7644Q	TTN_ENST00000591111.1_Missense_Mutation_p.R7327Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6400Q|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7327	Ig-like 58.						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)			GCTGTCATTTCGGAACCATGA	0.393000													15	73					0	0	0.028581	0	0
PVRL2	5819	broad.mit.edu	37	19	45375325	45375325	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:45375325G>A	ENST00000252483.5	+	3	694	c.694G>A	c.(694-696)Gat>Aat	p.D232N	PVRL2_ENST00000252485.4_Missense_Mutation_p.D232N	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	232	Ig-like C2-type 1.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GGGCCGAGCAGATGGTGTCAC	0.597000													5	63					0	0	0.014758	0	0
NR1D2	9975	broad.mit.edu	37	3	24018766	24018766	+	Silent	SNP	C	C	T	rs138945807	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:24018766C>T	ENST00000312521.4	+	8	1915	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	532					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AGGAAACTCTCATTCGTGCAC	0.368000													5	32					0	0	0.014758	0	0
GUCY2F	2986	broad.mit.edu	37	X	108691319	108691319	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:108691319G>C	ENST00000218006.2	-	6	1839	c.1548C>G	c.(1546-1548)atC>atG	p.I516M		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	516					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGTGGGGATTGATAAACGTTA	0.413000													14	24					0	0	0.020292	0	0
C16orf91	283951	broad.mit.edu	37	16	1470388	1470388	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:1470388G>A	ENST00000310355.1	-	4	728	c.729C>T	c.(727-729)ctC>ctT	p.L243L	C16orf91_ENST00000563974.1_Silent_p.L19L|C16orf91_ENST00000442039.2_Silent_p.L86L			Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	86						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TCAGCGCCACGAGGAAGCAGC	0.632000													15	74					0	0	0.024245	0	0
GPRIN3	285513	broad.mit.edu	37	4	90171030	90171030	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr4:90171030T>C	ENST00000333209.3	-	2	750	c.232A>G	c.(232-234)Atg>Gtg	p.M78V		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	78										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGAGAAGACATATCTGGTTGG	0.582000													26	63					0	0	0.091800	0	0
ZNF547	284306	broad.mit.edu	37	19	57889020	57889020	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:57889020C>G	ENST00000282282.3	+	4	826	c.676C>G	c.(676-678)Cac>Gac	p.H226D	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGTAAGTCTCACCTTGTTCG	0.433000													5	84					0	0	0.021553	0	0
PLD1	5337	broad.mit.edu	37	3	171404477	171404477	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:171404477G>A	ENST00000351298.4	-	16	1991	c.1865C>T	c.(1864-1866)gCt>gTt	p.A622V	PLD1_ENST00000342215.6_Intron|PLD1_ENST00000356327.5_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.A622V	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	622	Catalytic.		A -> S (in dbSNP:rs2290480).		cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTACTTACCAGCATGAGGTCT	0.443000													17	225					0	0	0.038395	0	0
PER1	5187	broad.mit.edu	37	17	8045157	8045157	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:8045157C>T	ENST00000317276.4	-	22	3803	c.3566G>A	c.(3565-3567)cGg>cAg	p.R1189Q	PER1_ENST00000581082.1_Missense_Mutation_p.R1166Q	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1189	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGCCCTTCCGGACCCAGGA	0.577000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					20	116					0	0	0.049695	0	0
ZNF827	152485	broad.mit.edu	37	4	146824152	146824152	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr4:146824152C>T	ENST00000508784.1	-	2	486	c.259G>A	c.(259-261)Gac>Aac	p.D87N	ZNF827_ENST00000379448.4_Missense_Mutation_p.D87N|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACCTCACTGTCCAGTGCCACC	0.602000													8	27					0	0	0.038147	0	0
DRAXIN	374946	broad.mit.edu	37	1	11775204	11775204	+	Silent	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:11775204C>G	ENST00000294485.5	+	6	1011	c.876C>G	c.(874-876)ctC>ctG	p.L292L		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GGGAGCATCTCTGCACACCCC	0.622000													19	63					0	0	0.049695	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99025873	99025873	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:99025873G>C	ENST00000453547.2	-	2	65	c.66C>G	c.(64-66)atC>atG	p.I22M	ARHGAP19_ENST00000371027.1_Missense_Mutation_p.I13M|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.I22M|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.I22M|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.I13M|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.I22M																							CAAAACTGCAGATGGCATCAC	0.408000													12	57					0	0	0.105934	0	0
TNK2	10188	broad.mit.edu	37	3	195608990	195608990	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:195608990C>T	ENST00000333602.6	-	6	1436	c.819G>A	c.(817-819)ctG>ctA	p.L273L	TNK2_ENST00000428187.1_Silent_p.L305L|TNK2_ENST00000468819.1_Intron|TNK2_ENST00000392400.1_Silent_p.L273L|TNK2_ENST00000381916.2_Silent_p.L336L|TNK2_ENST00000316664.3_Silent_p.L273L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	273	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTGCTCGCATCAGCCCAAAGT	0.592000													14	110					0	0	0.028581	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268030	21268030	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:21268030C>T	ENST00000602326.1	-	12	2050	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	EIF4G3_ENST00000544689.1_5'UTR|EIF4G3_ENST00000536266.1_Silent_p.E87E|EIF4G3_ENST00000400422.1_Silent_p.E483E|EIF4G3_ENST00000374927.4_Silent_p.E483E|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Silent_p.E489E|EIF4G3_ENST00000264211.8_Silent_p.E483E|EIF4G3_ENST00000356916.3_Silent_p.E494E	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	483					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AATCCAAAATCTCTTCTGTTT	0.433000													30	170					0	0	0.041601	0	0
ZNF423	23090	broad.mit.edu	37	16	49672148	49672148	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:49672148G>A	ENST00000561648.1	-	4	968	c.915C>T	c.(913-915)gtC>gtT	p.V305V	ZNF423_ENST00000262383.2_Silent_p.V305V|ZNF423_ENST00000567169.1_Silent_p.V188V|ZNF423_ENST00000562520.1_Silent_p.V245V|ZNF423_ENST00000563137.2_Silent_p.V245V|ZNF423_ENST00000535559.1_Silent_p.V188V|ZNF423_ENST00000562871.1_Silent_p.V245V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	305					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTTCTCGTCGACGAAGACCT	0.607000													10	31					0	0	0.093190	0	0
MARCO	8685	broad.mit.edu	37	2	119750046	119750046	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:119750046G>A	ENST00000541757.1	+	16	1392	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	MARCO_ENST00000327097.4_Missense_Mutation_p.E416K			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	416	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGAAAAAGGTGAAAGAGGTAA	0.433000													4	38					0	0	0.021553	0	0
SYT10	341359	broad.mit.edu	37	12	33532834	33532834	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:33532834C>T	ENST00000228567.3	-	6	1729	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	SYT10_ENST00000535526.1_Missense_Mutation_p.R297Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	478						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCAGTGGTCTCGCCCAAGACC	0.458000													22	89					0	0	0.062417	0	0
SOGA2	23255	broad.mit.edu	37	18	8784808	8784808	+	Silent	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr18:8784808G>C	ENST00000359865.3	+	6	1840	c.1698G>C	c.(1696-1698)ggG>ggC	p.G566G	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.G566G|SOGA2_ENST00000306329.11_Silent_p.G926G|SOGA2_ENST00000400050.3_Silent_p.G566G	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	917																	CCCCCATCGGGAACCTGGGGA	0.632000													11	58					0	0	0.093190	0	0
OR2G2	81470	broad.mit.edu	37	1	247752501	247752501	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:247752501C>T	ENST00000320065.1	+	1	840	c.840C>T	c.(838-840)ttC>ttT	p.F280F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTCTCTCTTCTACACTGTGG	0.463000													12	152					0	0	0.020292	0	0
OR51A2	401667	broad.mit.edu	37	11	4976440	4976440	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:4976440C>G	ENST00000380371.1	-	1	503	c.504G>C	c.(502-504)ttG>ttC	p.L168F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCAATATCTCAAGCTTCTTA	0.423000													41	211					0	0	0.098360	0	0
SETD1A	9739	broad.mit.edu	37	16	30990939	30990939	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:30990939G>C	ENST00000262519.8	+	14	4518	c.3832G>C	c.(3832-3834)Gag>Cag	p.E1278Q		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TGAAGACTCAGAGGCCACAGA	0.701000													6	21					0	0	0.021553	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33065908	33065908	+	Missense_Mutation	SNP	A	A	C	rs147884621	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:33065908A>C	ENST00000373510.4	+	5	1443	c.1214A>C	c.(1213-1215)gAg>gCg	p.E405A	ZBTB8A_ENST00000316459.4_3'UTR|ZBTB8OS_ENST00000341885.5_Silent_p.S59S|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AGTGAAGATGAGAATAGATCC	0.428000													5	44					0	0	0.029380	0	0
MPND	84954	broad.mit.edu	37	19	4359198	4359198	+	Silent	SNP	C	C	T	rs141733787	by1000genomes	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:4359198C>T	ENST00000599840.1	+	12	1400	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	MPND_ENST00000359935.4_Silent_p.L405L|MPND_ENST00000262966.8_Silent_p.L425L			Q8N594	MPND_HUMAN	MPN domain containing	425							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCTGACCTCGTGAGGCTCC	0.622000													10	55					0	0	0.020292	0	0
XCL2	6846	broad.mit.edu	37	1	168511261	168511261	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:168511261G>C	ENST00000367819.2	-	2	178	c.146C>G	c.(145-147)aCc>aGc	p.T49S		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	49					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TTCCGTGATGGTGTAGGTCTT	0.488000													4	45					0	0	0.038147	0	0
BRCA1	672	broad.mit.edu	37	17	41243826	41243826	+	Missense_Mutation	SNP	G	G	A	rs80357143		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:41243826G>A	ENST00000309486.4	-	9	3861	c.2834C>T	c.(2833-2835)tCt>tTt	p.S945F	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S1194F|BRCA1_ENST00000354071.3_Missense_Mutation_p.S1241F|BRCA1_ENST00000357654.3_Missense_Mutation_p.S1241F|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S1241F|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S1241F	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1241					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGCCTAGTAGACTGAGAAGG	0.388000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			6	116					0	0	0.029380	0	0
REG3G	130120	broad.mit.edu	37	2	79255340	79255340	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:79255340C>G	ENST00000272324.5	+	6	650	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	REG3G_ENST00000409471.1_Missense_Mutation_p.L110V|REG3G_ENST00000393897.2_Missense_Mutation_p.L156V	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	156	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTAGGATTTCTGAAGTGGAA	0.483000													12	54					0	0	0.093190	0	0
DNAH10	196385	broad.mit.edu	37	12	124330339	124330339	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:124330339C>T	ENST00000409039.3	+	30	5224	c.5199C>T	c.(5197-5199)aaC>aaT	p.N1733N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1733	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N1733N(1)|p.N325N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAAGCAAAAACGACAGGAAAA	0.473000													6	75					0	0	0.021553	0	0
STAT5A	6776	broad.mit.edu	37	17	40458324	40458324	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:40458324G>A	ENST00000345506.4	+	14	2181	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	STAT5A_ENST00000546010.2_Missense_Mutation_p.M483I|STAT5A_ENST00000588868.1_Missense_Mutation_p.M482I|STAT5A_ENST00000587646.1_Start_Codon_SNP_p.M1I|STAT5A_ENST00000590949.1_Missense_Mutation_p.M513I|STAT5A_ENST00000452307.2_Missense_Mutation_p.M513I	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	513					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CGCTCAACATGAAATTCAAGG	0.572000													12	65					0	0	0.093190	0	0
IMMT	10989	broad.mit.edu	37	2	86398430	86398430	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:86398430C>T	ENST00000410111.3	-	5	847	c.460G>A	c.(460-462)Gat>Aat	p.D154N	IMMT_ENST00000254636.5_Missense_Mutation_p.D56N|IMMT_ENST00000449247.2_Missense_Mutation_p.D143N|IMMT_ENST00000442664.2_Missense_Mutation_p.D154N|IMMT_ENST00000409051.2_Intron	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	154				D -> E (in Ref. 4; BAG35183).		integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GACAGGGTATCACCTGCTGCA	0.438000													3	10					0	0	0.004672	0	0
HFM1	164045	broad.mit.edu	37	1	91817197	91817197	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:91817197C>T	ENST00000370425.3	-	17	2079	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.D340N|HFM1_ENST00000462405.1_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	661	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCTGTAGTGTCAAACTGGGGA	0.378000													16	65					0	0	0.033300	0	0
FLG	2312	broad.mit.edu	37	1	152279707	152279707	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:152279707C>T	ENST00000368799.1	-	3	7690	c.7655G>A	c.(7654-7656)gGa>gAa	p.G2552E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2552	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)			CTCTGATTGTCCCTGGCCCAC	0.592000									Ichthyosis				13	330					0	0	0.020292	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882641	228882641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:228882641G>A	ENST00000392056.3	-	7	2975	c.2929C>T	c.(2929-2931)Cga>Tga	p.R977*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.R977*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	977						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCAAGGATCGGCAGGGTACG	0.532000													22	56					0	0	0.062417	0	0
HSPA6	3310	broad.mit.edu	37	1	161495705	161495705	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:161495705C>T	ENST00000309758.4	+	1	1670	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	419					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCCAGAGGAACGCCACTATCC	0.582000													4	33					0	0	0.021553	0	0
GTF2A1	2957	broad.mit.edu	37	14	81659171	81659171	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:81659171G>A	ENST00000553612.1	-	7	1028	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	GTF2A1_ENST00000434192.2_Missense_Mutation_p.L170F	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	209					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CCTCCAGGAAGAGGAGCCAGC	0.413000													7	137					0	0	0.038147	0	0
ZNF98	148198	broad.mit.edu	37	19	22575483	22575483	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:22575483T>C	ENST00000357774.5	-	4	675	c.554A>G	c.(553-555)aAa>aGa	p.K185R		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTCACATTCTTTACACTTGAA	0.303000													2	8					0	0	0.004672	0	0
KSR2	283455	broad.mit.edu	37	12	117977627	117977627	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:117977627C>T	ENST00000425217.1	-	10	1551	c.1497G>A	c.(1495-1497)acG>acA	p.T499T	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.T225T|KSR2_ENST00000339824.5_Silent_p.T528T	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	528					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGAGGAGGGCGTGGAGGACG	0.632000													11	34					0	0	0.069234	0	0
MUC3A	4584	broad.mit.edu	37	7	100551440	100551440	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:100551440C>G	ENST00000319509.7	+	1	191	c.191C>G	c.(190-192)tCt>tGt	p.S64C						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GACTTTCCCTCTATACCCACT	0.493000													21	91					0	0	0.049695	0	0
XCL1	6375	broad.mit.edu	37	1	168549385	168549385	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:168549385C>G	ENST00000367818.3	+	2	311	c.146C>G	c.(145-147)aCc>aGc	p.T49S		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	49					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					AAGACCTACACCATCACGGAA	0.483000													12	102					0	0	0.024245	0	0
MIR124-2HG	100130155	broad.mit.edu	37	8	65291792	65291792	+	RNA	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:65291792C>T	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							ATGCCAAGAGCGGAGCCTACG	0.483000													5	35					0	0	0.014758	0	0
CNST	163882	broad.mit.edu	37	1	246810956	246810956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:246810956C>T	ENST00000366513.4	+	9	1722	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Nonsense_Mutation_p.Q485*	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	485					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AAATGAGCTGCAGCAGCCTGA	0.468000													16	81					0	0	0.033300	0	0
TTN	7273	broad.mit.edu	37	2	179411092	179411092	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:179411092G>C	ENST00000589042.1	-	342	95190	c.94966C>G	c.(94966-94968)Cta>Gta	p.L31656V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L30015V|TTN_ENST00000342175.6_Missense_Mutation_p.L22783V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L22591V|TTN_ENST00000342992.6_Missense_Mutation_p.L29088V|TTN_ENST00000359218.5_Missense_Mutation_p.L22716V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30015	Fibronectin type-III 130.						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)			CAGAGATCTAGCTCCTTGTCT	0.438000													14	74					0	0	0.020292	0	0
SYNE2	23224	broad.mit.edu	37	14	64691756	64691756	+	Missense_Mutation	SNP	G	G	A	rs146398606	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:64691756G>A	ENST00000357395.3	+	115	20742	c.9598G>A	c.(9598-9600)Gag>Aag	p.E3200K	SYNE2_ENST00000555022.1_Missense_Mutation_p.E693K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E598K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3471K|SYNE2_ENST00000458046.2_Missense_Mutation_p.E486K|SYNE2_ENST00000441438.2_Missense_Mutation_p.E359K|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6735K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E3200K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6837K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6815K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6815					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAGGAGACAGAGAGCAGGTA	0.488000													7	22					0	0	0.038147	0	0
MROH8	140699	broad.mit.edu	37	20	35783534	35783534	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:35783534C>G	ENST00000400441.3	-	9	1005	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	MROH8_ENST00000217333.8_Intron|MROH8_ENST00000441008.2_Missense_Mutation_p.E322Q					maestro heat-like repeat family member 8																		CGTTCCCGCTCATGGTCTTTG	0.498000													26	97					0	0	0.050027	0	0
PEG3	5178	broad.mit.edu	37	19	57335885	57335885	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:57335885G>C	ENST00000326441.9	-	4	502	c.139C>G	c.(139-141)Cag>Gag	p.Q47E	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q47E|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000594706.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	47	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGAAACCTCTGATGAAAAAAC	0.502000													14	51					0	0	0.020292	0	0
BRCA1	672	broad.mit.edu	37	17	41245102	41245102	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:41245102G>A	ENST00000309486.4	-	9	2585	c.1558C>T	c.(1558-1560)Cat>Tat	p.H520Y	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.H769Y|BRCA1_ENST00000354071.3_Missense_Mutation_p.H816Y|BRCA1_ENST00000357654.3_Missense_Mutation_p.H816Y|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.H816Y|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.H816Y	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	816					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.H816fs*3(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAACAACCATGAATTAGTCCC	0.398000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			14	248					0	0	0.105934	0	0
NEB	4703	broad.mit.edu	37	2	152521102	152521102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:152521102C>T	ENST00000397345.3	-	44	5566	c.5364G>A	c.(5362-5364)tgG>tgA	p.W1788*	NEB_ENST00000409198.1_Nonsense_Mutation_p.W1788*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W1788*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W1788*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W1788*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W1788*	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1788					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCCTCTTCCCAGCCAGCTT	0.418000													5	14					0	0	0.021553	0	0
COQ7	10229	broad.mit.edu	37	16	19085308	19085308	+	Silent	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:19085308C>G	ENST00000321998.5	+	3	384	c.318C>G	c.(316-318)gtC>gtG	p.V106V	COQ7_ENST00000568985.1_Silent_p.V106V|COQ7_ENST00000569127.1_Silent_p.V83V|COQ7_ENST00000544894.2_Silent_p.V68V	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	106	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						CGTTCAGGGTCCGGCCAACAG	0.438000													5	23					0	0	0.014758	0	0
HOXA1	3198	broad.mit.edu	37	7	27135348	27135348	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:27135348C>T	ENST00000343060.4	-	1	245	c.184G>A	c.(184-186)Ggt>Agt	p.G62S	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.G62S	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	62						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						tggGGCGAACCGATCTGCACC	0.647000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	32					0	0	0.029380	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282750	47282750	+	Silent	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:47282750C>G	ENST00000271153.4	+	9	1137	c.1101C>G	c.(1099-1101)acC>acG	p.T367T	CYP4B1_ENST00000371919.4_Silent_p.T353T|CYP4B1_ENST00000452782.2_Silent_p.T205T|CYP4B1_ENST00000371923.4_Silent_p.T368T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	367					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTTATCTGACCATGTGCATCA	0.547000													22	97					0	0	0.083992	0	0
TNXB	7148	broad.mit.edu	37	6	32016196	32016196	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:32016196A>T	ENST00000375244.3	-	29	10190	c.9989T>A	c.(9988-9990)cTc>cAc	p.L3330H	TNXB_ENST00000375247.2_Missense_Mutation_p.L3328H			P22105	TENX_HUMAN	tenascin XB	3375	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGTCCAAAGAGCAGGAACTT	0.701000													6	31					0	0	0.029380	0	0
TNXB	7148	broad.mit.edu	37	6	32017777	32017777	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:32017777G>A	ENST00000375244.3	-	27	9638	c.9437C>T	c.(9436-9438)aCg>aTg	p.T3146M	TNXB_ENST00000375247.2_Missense_Mutation_p.T3144M			P22105	TENX_HUMAN	tenascin XB	3191	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCACTCACCCGTCACCCCAAT	0.602000													8	83					0	0	0.038147	0	0
OR14K1	343170	broad.mit.edu	37	1	247902051	247902051	+	Silent	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:247902051C>G	ENST00000283225.2	+	1	135	c.135C>G	c.(133-135)ctC>ctG	p.L45L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TCATCATTCTCCTCATGATTC	0.458000													10	74					0	0	0.058154	0	0
PLXNB3	5365	broad.mit.edu	37	X	153043515	153043515	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:153043515G>A	ENST00000538966.1	+	33	5714	c.5443G>A	c.(5443-5445)Gac>Aac	p.D1815N	PLXNB3_ENST00000538776.1_Missense_Mutation_p.D1445N|PLXNB3_ENST00000485980.1_3'UTR|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000361971.5_Missense_Mutation_p.D1792N	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1792					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GACCTTCATTGACTCCTGTAC	0.572000													13	18					0	0	0.105934	0	0
ZMYM3	9203	broad.mit.edu	37	X	70470533	70470533	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:70470533G>A	ENST00000373998.1	-	5	1519	c.822C>T	c.(820-822)ccC>ccT	p.P274P	ZMYM3_ENST00000373982.1_Silent_p.P276P|ZMYM3_ENST00000314425.5_Silent_p.P274P|ZMYM3_ENST00000373981.1_Silent_p.P274P|ZMYM3_ENST00000373988.1_Silent_p.P276P|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Silent_p.P274P|ZMYM3_ENST00000373984.3_Silent_p.P276P	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	274					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCTCATCATTGGGGTCATCTA	0.572000													4	3					0	0	0.009096	0	0
LAMA4	3910	broad.mit.edu	37	6	112510392	112510392	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:112510392C>T	ENST00000230538.7	-	7	1131	c.734G>A	c.(733-735)gGa>gAa	p.G245E	LAMA4_ENST00000522006.1_Missense_Mutation_p.G245E|LAMA4_ENST00000389463.4_Missense_Mutation_p.G245E|LAMA4_ENST00000424408.2_Missense_Mutation_p.G245E	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	245	Laminin EGF-like 4; truncated.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACATGGGCCTCCCCCGCAGTT	0.428000													5	28					0	0	0.014758	0	0
PCDH19	57526	broad.mit.edu	37	X	99657583	99657583	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:99657583G>C	ENST00000373034.4	-	3	4230	c.2555C>G	c.(2554-2556)tCt>tGt	p.S852C	PCDH19_ENST00000420881.2_Missense_Mutation_p.S805C|PCDH19_ENST00000255531.7_Missense_Mutation_p.S805C	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	852					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCTGTTGAAAGAGTGATGGTA	0.577000													3	9					0	0	0.004672	0	0
REG1A	5967	broad.mit.edu	37	2	79349207	79349207	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:79349207A>T	ENST00000233735.1	+	4	380	c.277A>T	c.(277-279)Act>Tct	p.T93S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	93	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.T93P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GGAGAGTGGCACTGATGACTT	0.507000													17	59					0	0	0.038395	0	0
TPCN2	219931	broad.mit.edu	37	11	68822767	68822767	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:68822767G>A	ENST00000294309.3	+	4	477	c.376G>A	c.(376-378)Gag>Aag	p.E126K	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.E126K	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	126					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGCCTGACCGAGAGTGTCGA	0.672000													15	59					0	0	0.020292	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186313	50186313	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:50186313G>A	ENST00000335999.6	-	12	3909	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1232	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TAGTATTGGGGAAGGTCCAGT	0.632000													5	46					0	0	0.029380	0	0
PTPRT	11122	broad.mit.edu	37	20	41100954	41100954	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:41100954C>T	ENST00000373198.3	-	8	1637	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	PTPRT_ENST00000373190.1_Missense_Mutation_p.E468K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E468K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E468K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E468K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E468K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E468K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	468	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTCGGCCCTCGGGGTTAGAC	0.592000													20	60					0	0	0.055883	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421251	37421251	+	Silent	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:37421251G>C	ENST00000374660.1	+	4	525	c.426G>C	c.(424-426)gcG>gcC	p.A142A	ANKRD30A_ENST00000602533.1_Silent_p.A142A|ANKRD30A_ENST00000361713.1_Silent_p.A142A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATGCAAATGCGAATGCAGTTA	0.299000													6	76					0	0	0.021553	0	0
MN1	4330	broad.mit.edu	37	22	28193511	28193511	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr22:28193511C>T	ENST00000302326.4	-	1	3975	c.3021G>A	c.(3019-3021)tcG>tcA	p.S1007S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1007							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCCAGGATGGCGACGTGAGCG	0.697000			T	ETV6	"""AML, meningioma"""								15	58					0	0	0.069288	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655980	40655980	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:40655980C>G	ENST00000406785.1	-	2	1630	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	SLC8A1_ENST00000408028.2_Missense_Mutation_p.D481H|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D481H|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D481H|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D481H|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D481H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	481	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATATCATCATCTATGATACCC	0.418000													4	59					0	0	0.014758	0	0
TMC5	79838	broad.mit.edu	37	16	19505660	19505660	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:19505660C>T	ENST00000396229.2	+	20	3652	c.2903C>T	c.(2902-2904)tCa>tTa	p.S968L	TMC5_ENST00000564959.1_Missense_Mutation_p.S651L|TMC5_ENST00000541464.1_Missense_Mutation_p.S916L|TMC5_ENST00000542583.2_Missense_Mutation_p.S968L|TMC5_ENST00000561503.1_Missense_Mutation_p.S609L|TMC5_ENST00000219821.5_Missense_Mutation_p.S722L|TMC5_ENST00000381414.4_Missense_Mutation_p.S910L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	968						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AACCCCAGCTCACTTGTTCTG	0.488000													23	116					0	0	0.069288	0	0
EPS8	2059	broad.mit.edu	37	12	15800065	15800065	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:15800065C>T	ENST00000281172.5	-	15	2000	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	EPS8_ENST00000543523.1_Missense_Mutation_p.D522N|EPS8_ENST00000540613.1_Missense_Mutation_p.D262N|EPS8_ENST00000543612.1_Missense_Mutation_p.D522N|EPS8_ENST00000542903.1_Missense_Mutation_p.D262N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	522					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TGTTACCTATCTATATGGCGA	0.448000													7	74					0	0	0.038147	0	0
HID1	283987	broad.mit.edu	37	17	72955024	72955024	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:72955024C>A	ENST00000425042.2	-	9	1208	c.1131G>T	c.(1129-1131)aaG>aaT	p.K377N		NM_030630.2	NP_085133.1			HID1 domain containing																		AGTCGCAGAGCTTCCAGAAGA	0.602000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					6.4e-05	6.86265e-05	0.004672	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26431526	26431526	+	RNA	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:26431526G>C	ENST00000466808.2	+	0	1474																											GGTGCCTGAAGAGGGCTGGAC	0.557000													6	58					0	0	0.029380	0	0
MYO15A	51168	broad.mit.edu	37	17	18025472	18025472	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:18025472C>T	ENST00000205890.5	+	2	3696	c.3358C>T	c.(3358-3360)Cgt>Tgt	p.R1120C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1120	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGTCATGCCTCGTGTGCAGAA	0.652000													12	44					0	0	0.105934	0	0
OGFOD3	79701	broad.mit.edu	37	17	80363226	80363226	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:80363226G>A	ENST00000313056.5	-	6	670	c.519C>T	c.(517-519)ttC>ttT	p.F173F	OGFOD3_ENST00000329197.5_Silent_p.F173F	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		CCTCCTCTGAGAAGATGTTCT	0.517000													12	31					0	0	0.024245	0	0
ALB	213	broad.mit.edu	37	4	74274401	74274401	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr4:74274401G>C	ENST00000295897.4	+	4	450	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.E121Q|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	121	Albumin 1.		E -> G.		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ACAAGAACCTGAGAGAAATGA	0.433000													7	44					0	0	0.038147	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163374	141163374	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:141163374C>T	ENST00000514251.1	+	4	2423	c.2144C>T	c.(2143-2145)tCg>tTg	p.S715L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.S716L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S715L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	715					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TCTGCACCCTCGGTCATTGTA	0.522000													19	128					0	0	0.038395	0	0
BEX4	56271	broad.mit.edu	37	X	102471381	102471381	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:102471381G>A	ENST00000372695.5	+	3	535	c.300G>A	c.(298-300)agG>agA	p.R100R	BEX4_ENST00000372691.3_Silent_p.R100R	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	100						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						AGCAGATGAGGCACTATATGC	0.418000													6	59					0	0	0.021553	0	0
UCK2	7371	broad.mit.edu	37	1	165877020	165877020	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:165877020G>A	ENST00000367879.4	+	7	1049	c.746G>A	c.(745-747)cGc>cAc	p.R249H	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	249					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ACCCCTTCACGCAAGAGGCAG	0.612000													22	87					0	0	0.091800	0	0
KCNK13	56659	broad.mit.edu	37	14	90650623	90650623	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:90650623G>A	ENST00000282146.4	+	2	944	c.503G>A	c.(502-504)cGa>cAa	p.R168Q		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	168						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTCCGGAGACGAGGGGCCCTG	0.607000													22	77					0	0	0.069288	0	0
KIDINS220	57498	broad.mit.edu	37	2	8934023	8934023	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:8934023T>C	ENST00000256707.3	-	12	1374	c.1193A>G	c.(1192-1194)tAt>tGt	p.Y398C	KIDINS220_ENST00000319688.5_Missense_Mutation_p.Y399C|KIDINS220_ENST00000473731.1_Missense_Mutation_p.Y398C|KIDINS220_ENST00000418530.1_Missense_Mutation_p.Y356C|KIDINS220_ENST00000427284.1_Missense_Mutation_p.Y398C	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	398					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTGGGCCTATAAAGTAATCG	0.403000													15	46					0	0	0.024245	0	0
FRY	10129	broad.mit.edu	37	13	32757152	32757152	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:32757152C>G	ENST00000380250.3	+	24	3531	c.3035C>G	c.(3034-3036)gCt>gGt	p.A1012G		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1012					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGAAAGAAGCTCTGGAAAGA	0.323000													32	34					0	0	0.069456	0	0
GSE1	23199	broad.mit.edu	37	16	85697133	85697133	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:85697133G>A	ENST00000253458.7	+	11	2733	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	GSE1_ENST00000405402.2_Missense_Mutation_p.E749K|GSE1_ENST00000393243.1_Missense_Mutation_p.E780K	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		CAGCCCTGATGAGATGAACAA	0.562000													21	55					0	0	0.049695	0	0
UQCRC1	7384	broad.mit.edu	37	3	48641703	48641703	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:48641703G>C	ENST00000203407.5	-	5	1005	c.589C>G	c.(589-591)Cta>Gta	p.L197V		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	197					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GCCTGGGCTAGAGGTGTGCCC	0.572000													5	93					0	0	0.021553	0	0
ATP13A4	84239	broad.mit.edu	37	3	193175211	193175211	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:193175211G>A	ENST00000342695.4	-	15	2040	c.1718C>T	c.(1717-1719)cCg>cTg	p.P573L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.P554L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	573					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGCATGTGCCGGCACTCCCTT	0.458000													13	185					0	0	0.105934	0	0
DDX51	317781	broad.mit.edu	37	12	132626474	132626474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:132626474C>T	ENST00000397333.3	-	6	954	c.916G>A	c.(916-918)Gat>Aat	p.D306N		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	306	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGTGTGGCATCTGTGTAGATG	0.547000													4	34					0	0	0.009096	0	0
TRPS1	7227	broad.mit.edu	37	8	116426463	116426463	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:116426463C>T	ENST00000395715.3	-	7	4250	c.3673G>A	c.(3673-3675)Gaa>Aaa	p.E1225K	TRPS1_ENST00000519076.1_Missense_Mutation_p.E966K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E1216K|TRPS1_ENST00000220888.5_Missense_Mutation_p.E1212K	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1212	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTTGAAAGTTCATCTTGAGTA	0.418000									Langer-Giedion syndrome				12	62					0	0	0.080935	0	0
NLRP12	91662	broad.mit.edu	37	19	54313983	54313983	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:54313983C>A	ENST00000324134.6	-	3	1098	c.930G>T	c.(928-930)tgG>tgT	p.W310C	NLRP12_ENST00000391775.3_Missense_Mutation_p.W310C|NLRP12_ENST00000391773.1_Missense_Mutation_p.W310C|NLRP12_ENST00000391772.1_Missense_Mutation_p.W310C|NLRP12_ENST00000354278.3_Missense_Mutation_p.W310C|NLRP12_ENST00000351894.4_Missense_Mutation_p.W310C|NLRP12_ENST00000535162.1_Missense_Mutation_p.W310C|NLRP12_ENST00000345770.5_Missense_Mutation_p.W310C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	310	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.W310*(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCAGAGGCACCAGGGTCCCT	0.572000													6	57					3.59834e-05	3.88184e-05	0.021553	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819683	159819683	+	RNA	SNP	C	C	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:159819683C>A	ENST00000497452.1	-	0	517																											TGGGACTTCTCCATCCTGTGG	0.493000													26	124					2.27525e-19	2.54714e-19	0.091800	1	0
ATXN2L	11273	broad.mit.edu	37	16	28843600	28843600	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:28843600C>T	ENST00000336783.4	+	11	1563	c.1396C>T	c.(1396-1398)Ccc>Tcc	p.P466S	ATXN2L_ENST00000564304.1_Missense_Mutation_p.P472S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P466S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P466S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P466S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P466S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P466S|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	466						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCAGAGCCTCCCATCGGCTC	0.587000													10	53					0	0	0.028581	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351200	47351200	+	RNA	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:47351200C>T	ENST00000505841.1	-	0	422					NR_002788.2																						AGCCAGGTTTCACAATCTGGC	0.448000													6	38					0	0	0.029380	0	0
SHANK2	22941	broad.mit.edu	37	11	70331427	70331427	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:70331427G>A	ENST00000338508.4	-	32	4973	c.4974C>T	c.(4972-4974)ctC>ctT	p.L1658L	SHANK2_ENST00000423696.2_Silent_p.L1278L|SHANK2_ENST00000409161.1_Silent_p.L1061L|SHANK2_ENST00000449833.2_Silent_p.L1062L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1278					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCTTGGAGCGAGGCTGGCGG	0.577000													10	47					0	0	0.069234	0	0
CEP78	84131	broad.mit.edu	37	9	80856706	80856706	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr9:80856706G>A	ENST00000424347.2	+	4	883	c.594G>A	c.(592-594)aaG>aaA	p.K198K	CEP78_ENST00000376598.2_Silent_p.K198K|CEP78_ENST00000277082.5_Silent_p.K198K|CEP78_ENST00000415759.2_Silent_p.K198K|CEP78_ENST00000376597.4_Silent_p.K198K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	198					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						ACATGGCCAAGATCTTAAAGG	0.343000													13	38					0	0	0.093190	0	0
NOLC1	9221	broad.mit.edu	37	10	103912186	103912186	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:103912186C>T	ENST00000405356.1	+	1	254	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_Missense_Mutation_p.R7C|NOLC1_ENST00000488254.2_Missense_Mutation_p.R7C			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	7					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CGCCGGCATTCGCCGCGTGGT	0.622000													12	72					0	0	0.093190	0	0
CSNK2A1	1457	broad.mit.edu	37	20	468206	468206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:468206G>A	ENST00000217244.3	-	12	1213	c.838C>T	c.(838-840)Cga>Tga	p.R280*	CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R280*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R280*|CSNK2A1_ENST00000400217.1_Nonsense_Mutation_p.R144*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	280	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.R280*(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CGTTCCCATCGCTTTCGAGAG	0.507000													5	61					0	0	0.014758	0	0
DCAF6	55827	broad.mit.edu	37	1	168037616	168037616	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:168037616C>T	ENST00000367840.3	+	21	2800	c.2706C>T	c.(2704-2706)ctC>ctT	p.L902L	DCAF6_ENST00000312263.6_Silent_p.L811L|DCAF6_ENST00000367843.3_Silent_p.L831L|DCAF6_ENST00000432587.2_Silent_p.L871L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	811					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAAACGAACTCATGCTGGAAG	0.373000													9	49					0	0	0.047766	0	0
PKNOX1	5316	broad.mit.edu	37	21	44450050	44450050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr21:44450050C>T	ENST00000291547.5	+	11	1361	c.1150C>T	c.(1150-1152)Cag>Tag	p.Q384*	PKNOX1_ENST00000432907.2_Nonsense_Mutation_p.Q267*	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	384							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GGACAGCCTTCAGTCTCTGTC	0.567000													18	87					0	0	0.049695	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249246	71249246	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:71249246A>C	ENST00000398534.3	+	1	176	c.145A>C	c.(145-147)Agc>Cgc	p.S49R		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	49	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TTCCTGCTCCAGCTGTGGCTC	0.682000													14	321					0	0	0.028581	0	0
FAM20B	9917	broad.mit.edu	37	1	179013306	179013306	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:179013306G>A	ENST00000263733.4	+	2	660	c.324G>A	c.(322-324)ctG>ctA	p.L108L		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	108						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GGACACAGCTGAAAGCCTTAC	0.448000													8	51					0	0	0.047766	0	0
NEK11	79858	broad.mit.edu	37	3	131068603	131068603	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:131068603C>T	ENST00000383366.4	+	18	2214	c.1921C>T	c.(1921-1923)Ctc>Ttc	p.L641F	NEK11_ENST00000510769.1_Missense_Mutation_p.L536F|RP11-933H2.4_ENST00000502521.1_RNA|NEK11_ENST00000429253.2_Missense_Mutation_p.L641F|NEK11_ENST00000510688.1_3'UTR|NEK11_ENST00000412440.2_Missense_Mutation_p.L457F|NEK11_ENST00000508196.1_Missense_Mutation_p.L641F|RP11-933H2.4_ENST00000513905.1_RNA	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	641					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGAACCTACTCTCCAGAACCA	0.403000													5	78					0	0	0.014758	0	0
ABHD16A	7920	broad.mit.edu	37	6	31655463	31655463	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:31655463C>T	ENST00000375842.4	-	18	1831	c.845G>A	c.(844-846)cGc>cAc	p.R282H	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.R468H|ABHD16A_ENST00000395952.3_Missense_Mutation_p.R501H|ABHD16A_ENST00000471644.1_5'UTR			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	501						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGGTAGGAGCGGAGGACAGA	0.597000													8	43					0	0	0.058154	0	0
ARL8B	55207	broad.mit.edu	37	3	5215724	5215724	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:5215724G>C	ENST00000256496.3	+	5	641	c.395G>C	c.(394-396)aGa>aCa	p.R132T	AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000419534.2_Intron|ARL8B_ENST00000468010.1_Intron	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	132					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		GGAAACAAGAGAGATCTTCCT	0.313000													17	177					0	0	0.055883	0	0
COL4A1	1282	broad.mit.edu	37	13	110827073	110827073	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:110827073G>A	ENST00000375820.4	-	38	3343	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1074	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCTTCCTGGGAAACCCGCTA	0.498000													16	180					0	0	0.043863	0	0
LY6G5C	80741	broad.mit.edu	37	6	31646945	31646945	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:31646945G>A	ENST00000375858.3	-	2	221	c.213C>T	c.(211-213)tgC>tgT	p.C71C	LY6G5C_ENST00000375860.2_Silent_p.C72C|LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000383237.4_Silent_p.C74C	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	74	UPAR/Ly6.					extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						ATCCCAGAAGGCACCCTAACT	0.542000													35	136					0	0	0.069456	0	0
ELMO2	63916	broad.mit.edu	37	20	45000318	45000318	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:45000318C>G	ENST00000372176.1	-	18	1797	c.1329G>C	c.(1327-1329)gaG>gaC	p.E443D	ELMO2_ENST00000290246.6_Missense_Mutation_p.E531D|ELMO2_ENST00000439931.2_Missense_Mutation_p.E543D|ELMO2_ENST00000352077.2_Missense_Mutation_p.E529D|ELMO2_ENST00000445496.2_Missense_Mutation_p.E348D|ELMO2_ENST00000454865.2_Missense_Mutation_p.E263D|ELMO2_ENST00000396391.1_Missense_Mutation_p.E531D			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	531	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GCTGGATCTTCTCCCTCAGCT	0.617000													8	37					0	0	0.047766	0	0
PRKAA1	5562	broad.mit.edu	37	5	40798216	40798216	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr5:40798216G>T	ENST00000397128.2	-	1	84	c.76C>A	c.(76-78)Cac>Aac	p.H26N	PRKAA1_ENST00000354209.3_Missense_Mutation_p.H26N|PRKAA1_ENST00000296800.4_Missense_Mutation_p.H17N	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	26					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AGAATGTAGTGGCCGATCTTC	0.652000													5	32					2.0095e-06	2.19442e-06	0.029380	1	0
TTC39B	158219	broad.mit.edu	37	9	15214144	15214144	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr9:15214144G>A	ENST00000355694.2	-	4	511	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	TTC39B_ENST00000380850.4_Missense_Mutation_p.R159C|TTC39B_ENST00000512701.1_Missense_Mutation_p.R159C|TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000507993.1_5'UTR|TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000541445.1_Missense_Mutation_p.R93C	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	93							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TACCAGGGGCGAAGCAATTCT	0.368000													17	43					0	0	0.038395	0	0
EGFL6	25975	broad.mit.edu	37	X	13645320	13645320	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:13645320G>A	ENST00000361306.1	+	11	1733	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	EGFL6_ENST00000380602.3_Silent_p.E493E	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	492	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGGCATGGGAGAAGACCACGA	0.433000													6	58					0	0	0.021553	0	0
LIPT1	51601	broad.mit.edu	37	2	99779504	99779504	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:99779504T>C	ENST00000393477.3	+	4	1436	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	LIPT1_ENST00000393474.3_Missense_Mutation_p.W362R|LIPT1_ENST00000340066.1_Missense_Mutation_p.W362R|LIPT1_ENST00000393471.2_Missense_Mutation_p.W362R|LIPT1_ENST00000393473.2_Missense_Mutation_p.W362R|MRPL30_ENST00000410042.1_Intron	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	362					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	AAACAGTAAATGGAATATTCT	0.303000													8	66					0	0	0.058154	0	0
CCDC11	220136	broad.mit.edu	37	18	47765019	47765019	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr18:47765019C>T	ENST00000398545.4	-	7	1387	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	424										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTAAGACTTTCATTTATGTGT	0.328000													9	33					0	0	0.080935	0	0
PREX1	57580	broad.mit.edu	37	20	47274751	47274751	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:47274751C>T	ENST00000396220.1	-	17	1919	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	PREX1_ENST00000371941.3_Missense_Mutation_p.E633K			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	633	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCATAGTCCTCCTCCTGGGGC	0.672000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	206					0	0	0.020292	0	0
C7orf62	219557	broad.mit.edu	37	7	88423630	88423630	+	Silent	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:88423630G>C	ENST00000297203.2	-	2	812	c.627C>G	c.(625-627)ctC>ctG	p.L209L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	209										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTTGTTCTGGGAGGAGTAGGT	0.413000													13	73					0	0	0.024245	0	0
C11orf35	256329	broad.mit.edu	37	11	558188	558188	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:558188C>G	ENST00000329451.3	-	4	434	c.372G>C	c.(370-372)ttG>ttC	p.L124F	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	124										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGTTCCTTCAACTCCTGGA	0.652000													7	26					0	0	0.029380	0	0
PGRMC1	10857	broad.mit.edu	37	X	118370416	118370416	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:118370416C>T	ENST00000217971.7	+	1	201	c.90C>T	c.(88-90)ctC>ctT	p.L30L	PGRMC1_ENST00000535419.1_Silent_p.L30L	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	30						cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CGTCGCCGCTCAACCTGCTGC	0.667000													11	4					0	0	0.080935	0	0
ZNF592	9640	broad.mit.edu	37	15	85328024	85328024	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr15:85328024C>T	ENST00000299927.3	+	1	2140	c.2118C>T	c.(2116-2118)ctC>ctT	p.L706L	ZNF592_ENST00000560079.2_Silent_p.L706L			Q92610	ZN592_HUMAN	zinc finger protein 592	706					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGTGAGGCTCATCCGGTACT	0.582000													7	70					0	0	0.029380	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716823	142716823	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:142716823C>A	ENST00000381779.4	-	2	2327	c.2102G>T	c.(2101-2103)gGc>gTc	p.G701V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.G701V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.G701V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	701						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTTCAAGCCACAAGTGTG	0.403000													22	67					2.89027e-11	3.19545e-11	0.069288	1	0
TRPV6	55503	broad.mit.edu	37	7	142569516	142569516	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:142569516G>A	ENST00000359396.3	-	15	2367	c.2122C>T	c.(2122-2124)Cgt>Tgt	p.R708C		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	708	Interaction with calmodulin.				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATTATCCCACGCAGGTCTCTC	0.567000													8	62					0	0	0.038147	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				4	8	---	---	---	---					
IP6K2	51447	broad.mit.edu	37	3	48732379	48732381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:48732379_48732381delAGG	ENST00000431721.2	-	3	746_748	c.509_511delCCT	c.(508-513)tgg>t	p.SW170del	IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000453202.1_In_Frame_Del_p.SW115del|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000443964.1_In_Frame_Del_p.SW174del|IP6K2_ENST00000417896.1_In_Frame_Del_p.SW115del|IP6K2_ENST00000446860.1_In_Frame_Del_p.SW173del|IP6K2_ENST00000449610.1_In_Frame_Del_p.SW115del|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000432678.2_Intron	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	0					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GCTGAGGGCCaggaggaggagaa	0.532													4	2	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	37064919	37064929	+	Frame_Shift_Del	DEL	TGCTAATAAGC	TGCTAATAAGC	-			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr5:37064919_37064929delTGCTAATAAGC	ENST00000282516.8	+	47	8839_8849	c.8340_8350delTGCTAATAAGC	c.(8338-8352)agtgfs	p.SANKL2780fs		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2780					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTCTAACGAGTGCTAATAAGCTGACTAATAA	0.427													14	62	---	---	---	---					
MAPK15	225689	broad.mit.edu	37	8	144803822	144803823	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:144803822_144803823insC	ENST00000338033.4	+	12	1427_1428	c.1308_1309insC	c.(1306-1311)gcccccfs	p.AP436fs		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	436					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGAAGGAAGCGCCCCCCTTGAC	0.644													7	135	---	---	---	---					
TRAJ11	28744	broad.mit.edu	37	14	23001451	23001451	+	RNA	DEL	G	G	-			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:23001451delG	ENST00000390526.1	+	0	0																											TTGCTATAGTGTGAATTCAGG	0.428													2	4	---	---	---	---					
B2M	567	broad.mit.edu	37	15	45007775	45007775	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr15:45007775delG	ENST00000558401.1	+	2	292	c.222delG	c.(220-222)ttfs	p.L74fs	B2M_ENST00000544417.1_Frame_Shift_Del_p.L74fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.L74fs|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	74	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATTCAGACTTGTCTTTCAGCA	0.418													8	131	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372914	74372914	+	RNA	DEL	G	G	-	rs67181940		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:74372914delG	ENST00000429810.2	-	0	1404																											AACGTAGtttgtttttttttt	0.433													2	4	---	---	---	---					
ZNF750	79755	broad.mit.edu	37	17	80790043	80790044	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:80790043_80790044delAG	ENST00000269394.3	-	2	1120_1121	c.287_288delCT	c.(286-288)tfs	p.S96fs	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	96						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTCGAAGGCAGAGAGTCCATT	0.574													11	66	---	---	---	---					
RFPL2	10739	broad.mit.edu	37	22	32589186	32589186	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr22:32589186delG	ENST00000248980.4	-	1	280	c.76delC	c.(76-78)tgfs	p.L26fs	RFPL2_ENST00000400236.3_Intron|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Intron|RFPL2_ENST00000400237.1_Intron	NM_006605.3	NP_006596.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	0							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCCACTGCCAGGGGAAAAGTA	0.473													9	82	---	---	---	---					
