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
DGKD	8527	broad.mit.edu	37	2	234368894	234368894	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr2:234368894C>G	ENST00000264057.2	+	24	2896	c.2884C>G	c.(2884-2886)Cgc>Ggc	p.R962G	DGKD_ENST00000409813.3_Missense_Mutation_p.R918G	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	962					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CGAGCTGCCCCGCCCTCCATC	0.597000													25	47					0	0	0.000586117	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144710	25144710	+	RNA	SNP	A	A	G	rs71218558	by1000genomes	TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr13:25144710A>G	ENST00000453498.1	+	0	251																											GATGTGTTTAACACAGCCCCT	0.398000													3	15					0	0	6.4e-05	0	0
PTGER4	5734	broad.mit.edu	37	5	40691977	40691977	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr5:40691977C>A	ENST00000302472.3	+	3	1988	c.964C>A	c.(964-966)Ccc>Acc	p.P322T		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	322					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TTCTGTGAACCCCATCCTAGA	0.483000													27	48					8.53417e-09	1.59195e-07	0.000491102	1	0
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													4	61					0	0	8.12818e-05	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			79	38					0	0	0.000147903	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													19	68					0	0	0.000229342	0	0
MYH2	4620	broad.mit.edu	37	17	10428344	10428344	+	Silent	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr17:10428344G>A	ENST00000245503.5	-	34	5085	c.4701C>T	c.(4699-4701)atC>atT	p.I1567I	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I1567I|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1567					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACTCAAGCTGGATGCGCAGGA	0.418000													76	3					0	0	0.000147903	0	0
RPTOR	57521	broad.mit.edu	37	17	78882720	78882720	+	Silent	SNP	C	C	T			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr17:78882720C>T	ENST00000306801.3	+	21	2873	c.2511C>T	c.(2509-2511)atC>atT	p.I837I	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I679I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	837					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCAACAGCATCGCCTACAAGG	0.582000													91	56					0	0	0.000147903	0	0
POLR2F	5435	broad.mit.edu	37	22	38352899	38352899	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr22:38352899C>T	ENST00000488684.1	+	2	229	c.140C>T	c.(139-141)tCg>tTg	p.S47L	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000606538.1_Intron|POLR2F_ENST00000484894.1_Intron|POLR2F_ENST00000442738.2_Intron|POLR2F_ENST00000470701.1_Intron|POLR2F_ENST00000460648.1_Missense_Mutation_p.S47L			P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	52					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					GCTGCCAAATCGTCTGACAGG	0.512000													5	20					0	0	1.23904e-05	0	0
PGK2	5232	broad.mit.edu	37	6	49753894	49753894	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr6:49753894C>A	ENST00000304801.3	-	1	1159	c.1007G>T	c.(1006-1008)tGg>tTg	p.W336L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	336					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CGGCCCATTCCAAACAATTAG	0.483000													43	154					2.35958e-20	4.57759e-19	0.000437636	1	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874582	74874582	+	Silent	SNP	C	C	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr14:74874582C>A	ENST00000331628.3	-	3	775	c.528G>T	c.(526-528)ctG>ctT	p.L176L	SYNDIG1L_ENST00000554823.1_Silent_p.L176L	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	176					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CAGCAATGCCCAGTGGCCAGA	0.592000													9	35					3.86212e-05	0.000706841	3.86212e-05	1	0
BRAT1	221927	broad.mit.edu	37	7	2583426	2583426	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr7:2583426G>A	ENST00000340611.4	-	5	857	c.601C>T	c.(601-603)Cac>Tac	p.H201Y		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	201					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TCTTCAACGTGATCCATGATC	0.672000													20	71					0	0	0.000586117	0	0
OR8A1	390275	broad.mit.edu	37	11	124439994	124439994	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr11:124439994C>G	ENST00000284287.3	+	1	102	c.30C>G	c.(28-30)tgC>tgG	p.C10W		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGCATCCCTGCAGGCCTCCCA	0.522000													22	5					0	0	0.000229342	0	0
DNAI2	64446	broad.mit.edu	37	17	72278045	72278045	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr17:72278045A>G	ENST00000579490.1	+	1	395	c.260A>G	c.(259-261)gAc>gGc	p.D87G	DNAI2_ENST00000446837.2_Missense_Mutation_p.D30G|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000311014.6_Missense_Mutation_p.D30G|DNAI2_ENST00000582036.1_Missense_Mutation_p.D30G			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	30					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGAACATCGACATCATGCCC	0.602000									Kartagener syndrome				22	67					0	0	0.000175454	0	0
HRNR	388697	broad.mit.edu	37	1	152191290	152191290	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr1:152191290C>T	ENST00000368801.2	-	3	2890	c.2815G>A	c.(2815-2817)Ggg>Agg	p.G939R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	939					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGACTGCCCTGAGCTAGAC	0.577000													154	461					0	0	0.000147903	0	0
CD163L1	283316	broad.mit.edu	37	12	7528424	7528424	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr12:7528424C>T	ENST00000313599.3	-	10	2615	c.2558G>A	c.(2557-2559)gGg>gAg	p.G853E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G863E|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.G853E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	853	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TAGACCATTCCCTTTTCCAAA	0.448000													40	25					0	0	0.000191422	0	0
ANKRD35	148741	broad.mit.edu	37	1	145560097	145560097	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr1:145560097G>A	ENST00000355594.4	+	8	670	c.583G>A	c.(583-585)Gag>Aag	p.E195K	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	195										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGGCCTGTGAGAAAGGCAG	0.567000													24	88					0	0	0.000147802	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163258	32163258	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr6:32163258G>A	ENST00000375023.3	-	30	6106	c.5968C>T	c.(5968-5970)Ctc>Ttc	p.L1990F	GPSM3_ENST00000375043.3_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1990					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATTTCTTGGAGGGCTGGGGGA	0.522000													169	221					0	0	0.000147903	0	0
SYNM	23336	broad.mit.edu	37	15	99669741	99669741	+	Silent	SNP	T	T	G			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr15:99669741T>G	ENST00000336292.6	+	5	1293	c.1173T>G	c.(1171-1173)ggT>ggG	p.G391G	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Silent_p.G106G|SYNM_ENST00000328642.7_Silent_p.G391G	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	392	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CTATTGGAGGTGATGCCAGAA	0.522000													110	146					0	0	0.000147903	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761663	13761663	+	Silent	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr12:13761663G>A	ENST00000279593.3	-	9	2093	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	628					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCATGATCTTGGAGGTGGTCC	0.522000													24	39					0	0	0.000586117	0	0
PDE3A	5139	broad.mit.edu	37	12	20806962	20806962	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr12:20806962T>G	ENST00000359062.3	+	15	3047	c.3007T>G	c.(3007-3009)Tcc>Gcc	p.S1003A	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1003	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCTTCAGGAATCCTTCATCTC	0.488000													35	30					0	0	0.000491102	0	0
OR6K2	81448	broad.mit.edu	37	1	158669743	158669743	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr1:158669743C>T	ENST00000359610.2	-	1	743	c.700G>A	c.(700-702)Ggc>Agc	p.G234S		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GTGCGGCGGCCTCCAGCTGAA	0.468000													52	77					0	0	0.000147903	0	0
NAT9	26151	broad.mit.edu	37	17	72768379	72768379	+	Silent	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr17:72768379G>A	ENST00000357814.3	-	5	445	c.372C>T	c.(370-372)gcC>gcT	p.A124A	NAT9_ENST00000580632.1_Intron|NAT9_ENST00000578822.1_Silent_p.A129A|NAT9_ENST00000583476.1_Silent_p.A124A|NAT9_ENST00000583757.1_Silent_p.A123A|NAT9_ENST00000582524.1_Silent_p.A124A|NAT9_ENST00000582870.1_Silent_p.A128A|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000580301.1_Silent_p.A123A|NAT9_ENST00000581136.1_Silent_p.A124A	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	124	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						TCGCGAGAACGGCCTCAGTGC	0.617000													8	23					0	0	0.000274275	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52146853	52146853	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr19:52146853C>T	ENST00000360844.6	-	6	1126	c.1085G>A	c.(1084-1086)aGg>aAg	p.R362K	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	362					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGAGCCCCCCTGATCAGGGT	0.582000													33	35					0	0	0.000228196	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798353	185798353	+	Silent	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr2:185798353G>A	ENST00000302277.6	+	3	873	c.279G>A	c.(277-279)agG>agA	p.R93R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	93						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAACAAAGGGAATTTGCTC	0.353000													29	39					0	0	0.000279167	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													4	140					0	0	3.59834e-05	0	0
GBF1	8729	broad.mit.edu	37	10	104120107	104120107	+	Silent	SNP	C	C	T			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr10:104120107C>T	ENST00000369983.3	+	12	1604	c.1344C>T	c.(1342-1344)acC>acT	p.T448T	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	448					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGTGCCAGACCCTCTTGGGCC	0.537000													42	59					0	0	0.000437636	0	0
POTEE	445582	broad.mit.edu	37	2	132021477	132021477	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr2:132021477G>A	ENST00000356920.5	+	15	2543	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	817	Actin-like.						ATP binding										GGCCAACCGCGAGAAGATGAC	0.612000													40	122					0	0	0.000147903	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497675	1497675	+	Silent	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr8:1497675G>A	ENST00000421627.2	+	2	950	c.816G>A	c.(814-816)tcG>tcA	p.S272S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	351					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCAAGTGCTCGGCCTGTGAGG	0.662000													32	33					0	0	0.000279167	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52146852	52146852	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr19:52146852C>A	ENST00000360844.6	-	6	1127	c.1086G>T	c.(1084-1086)agG>agT	p.R362S	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	362					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGAGAGCCCCCCTGATCAGGG	0.577000													33	34					1.49673e-21	2.96292e-20	0.000228196	1	0
FMO1	2326	broad.mit.edu	37	1	171250049	171250049	+	Missense_Mutation	SNP	T	T	C	rs150268968	byFrequency	TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr1:171250049T>C	ENST00000354841.4	+	5	883	c.752T>C	c.(751-753)aTt>aCt	p.I251T	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.I251T|FMO1_ENST00000402921.2_Missense_Mutation_p.I188T			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	251					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAACCCCAATTGTGACTTGG	0.458000													25	93					0	0	0.000117367	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585500	1585500	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr20:1585500C>A	ENST00000279477.7	-	3	703	c.639G>T	c.(637-639)aaG>aaT	p.K213N	SIRPB1_ENST00000568365.1_Missense_Mutation_p.K213N|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	213	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TCAGCACCACCTTGGCTGTGC	0.577000													43	3					3.86361e-14	7.34843e-13	0.000147903	1	0
STX6	10228	broad.mit.edu	37	1	180957437	180957437	+	Silent	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr1:180957437G>A	ENST00000258301.5	-	6	771	c.534C>T	c.(532-534)ggC>ggT	p.G178G	STX6_ENST00000542060.1_Silent_p.G77G|STX6_ENST00000469135.1_5'UTR	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	178	t-SNARE coiled-coil homology.				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						CCCCGATGCTGCCAGAGACCA	0.517000													41	119					0	0	0.000374591	0	0
FBXO21	23014	broad.mit.edu	37	12	117593596	117593596	+	Splice_Site	SNP	C	C	G			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr12:117593596C>G	ENST00000427718.2	-	11	1749	c.1675_splice	c.e11+1	p.E559_splice	FBXO21_ENST00000330622.5_Splice_Site_p.E566_splice	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	566					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CGCCGCTTACCTTGGGCTGCG	0.642000											OREG0022166	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	25					0	0	6.4e-05	0	0
PMM1	5372	broad.mit.edu	37	22	41980568	41980568	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr22:41980568G>A	ENST00000216259.7	-	3	329	c.245C>T	c.(244-246)aCg>aTg	p.T82M	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	82					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						ATACTGCACCGTCCCGTTCTC	0.547000													25	151					0	0	0.000184323	0	0
APPL2	55198	broad.mit.edu	37	12	105589120	105589120	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr12:105589120G>A	ENST00000258530.3	-	14	1385	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	APPL2_ENST00000551662.1_Missense_Mutation_p.A393V|APPL2_ENST00000539978.2_Missense_Mutation_p.A344V	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	387	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAACTTGATCGCGACTGCCTA	0.473000													12	25					0	0	6.40141e-05	0	0
ANKAR	150709	broad.mit.edu	37	2	190541666	190541666	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr2:190541666T>G	ENST00000520309.1	+	2	538	c.450T>G	c.(448-450)atT>atG	p.I150M	ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000438402.2_Missense_Mutation_p.I150M|ANKAR_ENST00000313581.4_Missense_Mutation_p.I150M|ANKAR_ENST00000431575.2_Missense_Mutation_p.I79M	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	150						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGATCAATATTGACTACATGC	0.388000													28	41					0	0	0.000147802	0	0
CARKD	55739	broad.mit.edu	37	13	111289537	111289537	+	Silent	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr13:111289537G>A	ENST00000309957.2	+	9	848	c.834G>A	c.(832-834)tcG>tcA	p.S278S	CARKD_ENST00000458711.2_Silent_p.S147S|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Silent_p.S168S	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	278	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						ACCTCCTGTCGGGCTCCCTGG	0.587000													17	25					0	0	0.000566183	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													6	60					0	0	0.000157383	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144712	25144712	+	RNA	SNP	A	A	C	rs71218558	by1000genomes	TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr13:25144712A>C	ENST00000453498.1	+	0	253																											TGTGTTTAACACAGCCCCTGC	0.393000													3	15					0	0	0.00024832	0	0
LYNX1	66004	broad.mit.edu	37	8	143846512	143846512	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr8:143846512C>T	ENST00000523332.1	-	4	287	c.224G>A	c.(223-225)gGt>gAt	p.G75D	RP11-706C16.7_ENST00000523657.1_RNA|LYNX1_ENST00000317543.7_Silent_p.G33G|LYNX1_ENST00000335822.5_Silent_p.G67G			Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	0	UPAR/Ly6.					extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATGGGAGCACCCTCCGAAGC	0.627000													10	11					0	0	0.00010058	0	0
RFX4	5992	broad.mit.edu	37	12	107048024	107048024	+	Silent	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr12:107048024G>A	ENST00000392842.1	+	4	624	c.210G>A	c.(208-210)gaG>gaA	p.E70E	RFX4_ENST00000357881.4_Silent_p.E79E|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	70					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AGAACTATGAGATTGCAGAGG	0.488000													23	47					0	0	0.00047179	0	0
GRIA2	2891	broad.mit.edu	37	4	158224758	158224758	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr4:158224758A>C	ENST00000296526.7	+	3	609	c.284A>C	c.(283-285)aAg>aCg	p.K95T	GRIA2_ENST00000393815.2_Missense_Mutation_p.K48T|GRIA2_ENST00000507898.1_Missense_Mutation_p.K48T|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000449365.1_Missense_Mutation_p.K48T|GRIA2_ENST00000264426.9_Missense_Mutation_p.K95T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	95					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TATGACAAGAAGTCTGTAAAT	0.398000													45	89					0	0	0.000125731	0	0
KRT73	319101	broad.mit.edu	37	12	53009977	53009977	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr12:53009977C>T	ENST00000305748.3	-	2	669	c.635G>A	c.(634-636)cGc>cAc	p.R212H		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	212	Coil 1B.|Rod.		R -> H (in a colorectal cancer sample; somatic mutation).			keratin filament	structural molecule activity	p.R212H(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCACTTCGCGCACGCTCCT	0.627000													28	70					0	0	0.000117367	0	0
CYTIP	9595	broad.mit.edu	37	2	158300486	158300486	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr2:158300486G>A	ENST00000264192.3	-	1	168	c.47C>T	c.(46-48)gCg>gTg	p.A16V	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	16					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GCAGAAGTCCGCCAAATTGCC	0.507000													41	63					0	0	0.000589545	0	0
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gct>g	p.EA716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626													7	100	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													3	5	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-FS-A1ZY-06A-11D-A197-08	TCGA-FS-A1ZY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c06caf8-b204-4030-9e44-26fda5232e1d	416e6d70-b904-473f-ad36-f94d8ad3cc2b	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													3	6	---	---	---	---