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
N4BP1	9683	broad.mit.edu	37	16	48595409	48595409	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:48595409T>A	ENST00000262384.3	-	2	1381	c.1145A>T	c.(1144-1146)gAg>gTg	p.E382V	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	382					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTCAATTTCCTCTAAGAGCAA	0.343000													18	38					0	0	1	0	0
MRPL38	64978	broad.mit.edu	37	17	73895047	73895047	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr17:73895047C>T	ENST00000309352.3	-	9	1564	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	MRPL38_ENST00000409963.3_Missense_Mutation_p.E159K|RP11-552F3.10_ENST00000587267.1_RNA	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	343						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCACGAACTCAAACACCGGC	0.682000													4	21					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357404	38357404	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr13:38357404C>A	ENST00000379705.3	-	2	924	c.67G>T	c.(67-69)Gta>Tta	p.V23L	TRPC4_ENST00000379681.3_Missense_Mutation_p.V23L|TRPC4_ENST00000447043.1_Missense_Mutation_p.V23L|TRPC4_ENST00000379673.2_Missense_Mutation_p.V23L|TRPC4_ENST00000379679.1_Missense_Mutation_p.V23L|TRPC4_ENST00000426868.2_Missense_Mutation_p.V23L|TRPC4_ENST00000358477.2_Missense_Mutation_p.V23L|TRPC4_ENST00000355779.2_Missense_Mutation_p.V23L|TRPC4_ENST00000338947.5_Missense_Mutation_p.V23L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	23					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)		TCTGCTCTTACTATCCTTAGA	0.423000													15	85					4.7546e-09	5.24988e-09	1	1	0
OR4D11	219986	broad.mit.edu	37	11	59271628	59271628	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr11:59271628G>T	ENST00000313253.1	+	1	580	c.580G>T	c.(580-582)Gct>Tct	p.A194S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGACACTTTTGCTCTTGAGTT	0.493000													39	62					2.87052e-16	3.38083e-16	1	1	0
HEY2	23493	broad.mit.edu	37	6	126080565	126080565	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:126080565C>T	ENST00000368364.3	+	5	828	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	HEY2_ENST00000368365.1_Missense_Mutation_p.R165C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	211					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		AACCCCTTGTCGCCTCTCCAC	0.657000													11	153					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219869028	219869028	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:219869028G>A	ENST00000341552.5	-	33	5284	c.5201C>T	c.(5200-5202)cCc>cTc	p.P1734L	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1734L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1734L|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1734						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCTGGAGGGTACAGGCAG	0.542000													64	79					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	48					0	0	1	0	0
GOLGA6L5	0	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													4	10					0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153075402	153075402	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:153075402C>A	ENST00000367244.3	+	3	381	c.209C>A	c.(208-210)aCa>aAa	p.T70K	VIP_ENST00000367243.3_Missense_Mutation_p.T70K	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	70					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GAAAATGACACACCCTATTAT	0.313000													13	39					4.14922e-12	4.6789e-12	1	1	0
RPS6KA1	6195	broad.mit.edu	37	1	26898725	26898725	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:26898725G>A	ENST00000374168.2	+	20	2042	c.1888G>A	c.(1888-1890)Ggc>Agc	p.G630S	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.G614S|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.G538S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.G639S|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.G619S|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.G538S	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	630	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AACCCGGATCGGCAGTGGGAA	0.547000													9	47					0	0	1	0	0
KRTDAP	388533	broad.mit.edu	37	19	35979707	35979707	+	Silent	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr19:35979707G>T	ENST00000338897.3	-	2	211	c.123C>A	c.(121-123)ccC>ccA	p.P41P	KRTDAP_ENST00000484218.2_Silent_p.P41P|KRTDAP_ENST00000479340.1_5'UTR	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	41					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCTTACCTCGGGTCGTGACG	0.552000													4	14					0.00024832	0.000263219	1	1	0
ANKRD20A8P	0	broad.mit.edu	37	2	95511108	95511108	+	RNA	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:95511108A>G	ENST00000432432.2	-	0	906					NR_040113.1																						TAAGAAATTCACAATCAGAAG	0.284000													28	38					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676909	100676909	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100676909C>T	ENST00000306151.4	+	3	2276	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	738	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P738S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCCAGTATGCCAACCTCAAC	0.502000													6	403					0	0	1	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664286	38664286	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:38664286C>G	ENST00000336949.6	+	2	1032	c.87C>G	c.(85-87)gaC>gaG	p.D29E	MID1IP1_ENST00000378474.3_Missense_Mutation_p.D29E|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D29E	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	29					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACAACATGGACCAGACGGTGA	0.612000													18	37					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30793291	30793291	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:30793291G>C	ENST00000262525.4	-	3	2565	c.2358C>G	c.(2356-2358)caC>caG	p.H786Q		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGTTTCTTGGTGCCGGGTGA	0.657000													47	85					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40029556	40029556	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:40029556C>A	ENST00000372857.3	-	11	2236	c.1444G>T	c.(1444-1446)Ggg>Tgg	p.G482W	PABPC4_ENST00000372858.3_Missense_Mutation_p.G498W|PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	482					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCACCAGCCCCACCAAAGTCC	0.582000													11	31					0.010729	0.010729	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								30	46					5.60225e-13	6.45477e-13	1	1	0
SELENBP1	8991	broad.mit.edu	37	1	151338088	151338088	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:151338088A>G	ENST00000426705.2	-	9	1265	c.1121T>C	c.(1120-1122)cTg>cCg	p.L374P	SELENBP1_ENST00000447402.3_Missense_Mutation_p.L270P|SELENBP1_ENST00000368868.5_Missense_Mutation_p.L332P|SELENBP1_ENST00000435071.1_Missense_Mutation_p.L268P	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	332					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATACTGCCTCAGGTCCCCATG	0.592000													4	97					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416267	178416267	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:178416267T>G	ENST00000408939.2	-	1	1475	c.1225A>C	c.(1225-1227)Atc>Ctc	p.I409L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	409					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCCTTTTTGATAGCTTCATCA	0.398000													5	220					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131755536	131755536	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:131755536T>C	ENST00000372577.2	+	26	2722	c.2701T>C	c.(2701-2703)Ttc>Ctc	p.F901L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	901					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCGTGATGCCTTCCTGACCCG	0.532000											OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	91					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													6	119					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													3	22					0.00116845	0.00121427	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177929520	177929520	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:177929520C>T	ENST00000308284.6	-	8	1044	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Intron|SEC16B_ENST00000464631.1_Missense_Mutation_p.E320K	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	319					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTTGCTCTTCGGAATCATTA	0.428000													3	6					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087491	9087491	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr19:9087491G>A	ENST00000397910.4	-	1	4527	c.4324C>T	c.(4324-4326)Ccc>Tcc	p.P1442S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1442	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCAGGGGTTCCCCTGGG	0.522000													12	66					0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32918314	32918314	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:32918314T>G	ENST00000374843.4	-	2	440	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q	HLA-DMA_ENST00000395305.3_Intron|HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.K119Q	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	119						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						ACCGGGATTTTCCCATCAAGT	0.488000													58	75					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													3	55					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3632640	3632640	+	Silent	SNP	G	G	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:3632640G>A	ENST00000294008.3	-	15	5848	c.5208C>T	c.(5206-5208)ggC>ggT	p.G1736G	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1736	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCTCCCCCTCGCCCTCCTCTT	0.617000								Direct reversal of damage					9	11					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100173893	100173893	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100173893C>T	ENST00000310300.6	-	15	1658	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	LRCH4_ENST00000497245.1_Missense_Mutation_p.D84N	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	536	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTTCTCATCTGGAACCTGG	0.637000													12	14					0	0	1	0	0
APOO	79135	broad.mit.edu	37	X	23899026	23899026	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:23899026G>T	ENST00000379226.4	-	2	284	c.53C>A	c.(52-54)aCc>aAc	p.T18N	APOO_ENST00000379220.3_Missense_Mutation_p.T18N	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	18					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GACTTTGAAGGTGAGCAAGCT	0.448000													5	28					1.23904e-05	1.34019e-05	1	1	0
HEY2	23493	broad.mit.edu	37	6	126080335	126080335	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:126080335C>T	ENST00000368364.3	+	5	598	c.401C>T	c.(400-402)gCg>gTg	p.A134V	HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	134	Orange.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	p.A134V(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACAGAAGTTGCGCGGTACCTG	0.587000													22	56					0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350375	21350375	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:21350375A>G	ENST00000380210.1	-	1	1002	c.512T>C	c.(511-513)aTc>aCc	p.I171T		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGATCTCATGATTTCTGCTCT	0.448000													60	205					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127549423	127549423	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:127549423G>A	ENST00000373580.3	+	2	260	c.260G>A	c.(259-261)cGc>cAc	p.R87H		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	87										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ACTGACTGCCGCTGCTCCTGT	0.627000													9	18					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77245264	77245264	+	Silent	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:77245264C>T	ENST00000341514.6	+	4	1301	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.N382N	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	382	HMA 4.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTGTGATAAACATTGATGGCA	0.423000													110	59					0	0	1	0	0
NEIL1	79661	broad.mit.edu	37	15	75641378	75641378	+	Silent	SNP	C	C	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr15:75641378C>G	ENST00000564784.1	+	3	761	c.132C>G	c.(130-132)gcC>gcG	p.A44A	NEIL1_ENST00000569035.1_Silent_p.A44A|NEIL1_ENST00000355059.4_Silent_p.A44A|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	44					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGAGCAGTGCCTACCGCATCT	0.652000								Base excision repair (BER), DNA glycosylases					15	33					0	0	1	0	0
AC007956.1	0	broad.mit.edu	37	14	75179781	75179781	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr14:75179781A>G	ENST00000338772.5	-	1	19	c.20T>C	c.(19-21)aTc>aCc	p.I7T	AREL1_ENST00000557401.1_5'UTR|AREL1_ENST00000356357.4_5'UTR																							GGCTCGGGGGATTGCCCTTTC	0.597000													8	13					0	0	1	0	0
GNB2	2783	broad.mit.edu	37	7	100275813	100275813	+	Missense_Mutation	SNP	G	G	A	rs139214321		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100275813G>A	ENST00000303210.4	+	8	1072	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GNB2_ENST00000393926.1_Missense_Mutation_p.R197H|GNB2_ENST00000436220.1_Missense_Mutation_p.R153H|GNB2_ENST00000427895.1_Missense_Mutation_p.R97H|GNB2_ENST00000419828.1_Missense_Mutation_p.R97H|GNB2_ENST00000393924.1_Missense_Mutation_p.R197H|GNB2_ENST00000424361.1_Missense_Mutation_p.R153H	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	197					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCCGATGGCCGCACGTTTGTG	0.587000													4	105					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17750115	17750115	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:17750115G>T	ENST00000380060.3	+	8	4762	c.4424G>T	c.(4423-4425)aGc>aTc	p.S1475I	NHS_ENST00000398097.3_Missense_Mutation_p.S1319I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1475						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACCCCCAACAGCCAGAGGTCT	0.498000													40	85					5.43694e-19	6.54904e-19	1	1	0
SUN1	23353	broad.mit.edu	37	7	893044	893044	+	Splice_Site	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:893044A>G	ENST00000456758.2	+	16	1620		c.e16-1		SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000425407.2_Splice_Site|SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000405266.1_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000389574.3_Splice_Site			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1						cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGCCATTTCAGGGTGACAGT	0.527000													4	44					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	5					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145722	25145722	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr22:25145722T>C	ENST00000332271.5	-	10	1570	c.1154A>G	c.(1153-1155)aAg>aGg	p.K385R	PIWIL3_ENST00000533313.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.K276R	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	385	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGTTAGGCCCTTTTTCCATCT	0.468000													3	53					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40029555	40029555	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:40029555C>A	ENST00000372857.3	-	11	2237	c.1445G>T	c.(1444-1446)gGg>gTg	p.G482V	PABPC4_ENST00000372858.3_Missense_Mutation_p.G498V|PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	482					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGCACCAGCCCCACCAAAGTC	0.587000													11	32					0.010729	0.010729	1	1	0
TSPAN33	340348	broad.mit.edu	37	7	128804401	128804401	+	Silent	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:128804401C>T	ENST00000289407.4	+	5	559	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	150						integral to membrane		p.G150G(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGATTTTGGCCAGAAAAAGG	0.512000											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	46					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062420	2062420	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr12:2062420G>C	ENST00000280665.6	-	7	765	c.686C>G	c.(685-687)aCa>aGa	p.T229R	DCP1B_ENST00000397173.4_Missense_Mutation_p.T127R|DCP1B_ENST00000540622.1_Missense_Mutation_p.T103R|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	229					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AAACAGAGCTGTCAAGGATAA	0.473000													17	21					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44010763	44010763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:44010763delC	ENST00000359947.4	+	3	357	c.17delC	c.(16-18)gcfs	p.A6fs	PTPRF_ENST00000438120.1_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372413.3_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372414.3_Frame_Shift_Del_p.A6fs	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	6					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGAGCCAGCCCCAGGGAGG	0.592													2	4	---	---	---	---					
EVC2	132884	broad.mit.edu	37	4	5630449	5630449	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr4:5630449delC	ENST00000310917.2	-	12	2214	c.1483delG	c.(1483-1485)agfs	p.E495fs	EVC2_ENST00000344408.5_Frame_Shift_Del_p.E575fs|EVC2_ENST00000344938.1_Frame_Shift_Del_p.E575fs	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	575						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCATTAACTCTTCTACATTC	0.328													18	41	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													2	4	---	---	---	---					
