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
CYTH1	9267	broad.mit.edu	37	17	76694917	76694917	+	Silent	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:76694917C>T	uc021ueg.1	-	7	755	c.684G>A	c.(682-684)ccG>ccA	p.P228P	CYTH1_uc002jvw.3_Silent_p.P228P|U6_uc021ueh.1_5'Flank|CYTH1_uc010wtw.1_Silent_p.P169P|CYTH1_uc010wtx.1_Silent_p.P169P	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	228					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GGAGCTCCTCCGGCAGGTCTC	0.488000													41	196					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149481078	149481078	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr7:149481078G>A	uc010lpk.3	+	17	2560	c.2560G>A	c.(2560-2562)Ggc>Agc	p.G854S	SSPO_uc010lpl.1_Missense_Mutation_p.G189S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	854	TIL 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGAGAGCTGGGCAGCTGTGT	0.647000													6	13					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710291	41710291	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr21:41710291A>C	uc002yyq.1	-	7	1972	c.1520T>G	c.(1519-1521)aTt>aGt	p.I507S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	507	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTGGTCGAATGCTTGCAGG	0.403000													11	21					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45646937	45646937	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr2:45646937C>T	uc002rus.3	-	16	2222	c.2146G>A	c.(2146-2148)Gtt>Att	p.V716I	SRBD1_uc010yoc.2_Missense_Mutation_p.V235I	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	716					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTTAACAAAACTTCTGAACAG	0.428000													24	60					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr5:94030836C>A	uc003kkr.4	+	20	3076	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_uc003kks.3_Missense_Mutation_p.T363N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	999										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348000													8	78					6.31663e-08	7.18789e-08	1	1	0
HOXA1	3198	broad.mit.edu	37	7	27134952	27134952	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr7:27134952G>A	uc003sye.3	-	0	674	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	HOXA1_uc003syd.3_Missense_Mutation_p.P126L|HOXA1_uc022aao.1_Missense_Mutation_p.P194S|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	194						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCGATGCGGGGGAGCGACAG	0.552000													36	89					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	16					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416522	30416522	+	Silent	SNP	C	C	T	rs147400483	byFrequency	TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr22:30416522C>T	uc003agv.4	+	16	3202	c.2874C>T	c.(2872-2874)tgC>tgT	p.C958C	MTMR3_uc003agu.4_Silent_p.C958C|MTMR3_uc003agw.4_Silent_p.C958C	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	958					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.C958C(3)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ATGGGCATTGCGCCAATGGGG	0.582000													22	56					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr2:209113113G>T	uc002vcs.3	-	3	640	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_uc002vct.3_Missense_Mutation_p.R132S|IDH1_uc002vcu.3_Missense_Mutation_p.R132S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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								18	64					0.000566183	0.000622801	1	1	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000													2	11					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152589	70152589	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr4:70152589G>C	uc003hej.3	+	2	992	c.990G>C	c.(988-990)aaG>aaC	p.K330N	UGT2B28_uc010ihr.3_Missense_Mutation_p.K330N	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	330					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CCCTTGCCAAGATCCCACAAA	0.423000													11	124					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30886219	30886219	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr22:30886219C>T	uc003aid.2	-	11	1196	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Missense_Mutation_p.D351N|SEC14L4_uc003aif.2_Silent_p.S326S	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	366	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592000													6	68					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39203057	39203057	+	Silent	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr5:39203057C>T	uc003jls.3	-	0	73	c.6G>A	c.(4-6)gcG>gcA	p.A2A	FYB_uc003jlt.3_Silent_p.A2A|FYB_uc003jlu.3_Silent_p.A2A|FYB_uc011cpl.2_Silent_p.A12A	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	2					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.A2V(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTATATTTCGCCATGAGGG	0.433000													30	55					0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74700992	74700992	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr10:74700992C>T	uc001jtf.1	-	2	468	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	PLA2G12B_uc009xqt.1_Missense_Mutation_p.R44Q|PLA2G12B_uc010qjz.1_Missense_Mutation_p.R134Q	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	134					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GAGACACCATCGGAATTTTGC	0.502000													10	168					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54466583	54466583	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr19:54466583G>A	uc002qcs.2	+	0	294	c.187G>A	c.(187-189)Gac>Aac	p.D63N		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	63					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGCGGCGACGACGGGACCCC	0.701000													4	27					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28574169	28574169	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr18:28574169G>C	uc002kwj.4	-	15	2818	c.2663C>G	c.(2662-2664)aCa>aGa	p.T888R	DSC3_uc002kwi.4_3'UTR	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	888					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTGCTAATGTAATAAATTT	0.388000													13	48					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr22:22664606A>G	uc021wml.1	+	32		c.2706A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GTCTTCATGCAAACTTGGTAT	0.398000													3	29					0	0	1	0	0
CD300LB	124599	broad.mit.edu	37	17	72521999	72521999	+	Silent	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:72521999C>T	uc002jkx.2	-	1	382	c.369G>A	c.(367-369)acG>acA	p.T123T	CD300LB_uc010wqz.1_Silent_p.T123T	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCACAGTGAACGTGCGGTCTT	0.517000													69	156					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23345745	23345745	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr20:23345745G>C	uc010gdb.3	+	2	899	c.725G>C	c.(724-726)aGa>aCa	p.R242T	GZF1_uc002wsy.3_Missense_Mutation_p.R242T|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_Missense_Mutation_p.R242T	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	242					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAATATACGAGAAGACTCCGA	0.532000													25	50					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58564252	58564252	+	Splice_Site	SNP	C	C	A			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr16:58564252C>A	uc002env.3	-	43	6471	c.6178_splice	c.e43-1	p.G2060_splice	CNOT1_uc002enw.3_Splice_Site|CNOT1_uc002enu.4_Splice_Site_p.G2055_splice|CNOT1_uc002ent.3_Splice_Site|CNOT1_uc010vik.2_Splice_Site_p.G1017_splice	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2060					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGGCCACCCCTGAAAGAAAG	0.393000													6	55					0.00198382	0.00211181	1	1	0
IPO13	9670	broad.mit.edu	37	1	44415398	44415398	+	Missense_Mutation	SNP	C	C	G	rs138977771	byFrequency	TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr1:44415398C>G	uc001ckx.3	+	1	1189	c.394C>G	c.(394-396)Ctc>Gtc	p.L132V		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	132					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTCACTGGCTCTCAGCATGAT	0.587000													17	31					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	AGC	-	rs76272937		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr3:12046124_12046126delAGC	uc003bwm.3	+	0	263_265	c.99_101delAGC	c.(97-102)caagcg>cag	p.A34del	SYN2_uc003bwl.1_In_Frame_Del_p.A34del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	34					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	3	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939540	76939540	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chrX:76939540delT	uc004ecp.4	-	8	1440	c.1208delA	c.(1207-1209)aagfs	p.K403fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K365fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K188fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K364fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K403fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K348fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	403					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATGAGCCTTCTTAATATCAGC	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						176	103	---	---	---	---					
