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
abParts	0	broad.mit.edu	37	14	106375813	106375813	+	Splice_Site	SNP	C	C	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr14:106375813C>T	uc021ser.1	-	3440		c.54142_splice	c.e3440-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron					Parts of antibodies, mostly variable regions.																		CAGAATCCGACGGGGCGCCCT	0.627000													16	26					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98416610	98416610	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:98416610G>A	uc001kmq.3	-	2	640	c.512C>T	c.(511-513)aCg>aTg	p.T171M	PIK3AP1_uc001kmp.3_5'UTR	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	171						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGAAGTCACCGTCGGCAGGTT	0.577000													4	63					0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133894572	133894572	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr3:133894572G>C	uc003eqc.1	-	13	1551	c.1453C>G	c.(1453-1455)Ctc>Gtc	p.L485V	RYK_uc003eqd.1_Missense_Mutation_p.L482V	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	483	Protein kinase.				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TCTCTGGAGAGGGCATTGTCT	0.408000													10	60					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54492189	54492189	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chrX:54492189C>A	uc004dtg.3	-	6	2171	c.1437G>T	c.(1435-1437)gaG>gaT	p.E479D	FGD1_uc011moi.1_Missense_Mutation_p.E237D	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	479	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTTGACCAGCTCCACGGCCC	0.547000													13	24					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239340	5239340	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr5:5239340C>A	uc003jdl.3	+	14	2369	c.2231C>A	c.(2230-2232)gCc>gAc	p.A744D	ADAMTS16_uc003jdk.1_Missense_Mutation_p.A744D|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	744	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AATAACTCAGCCTGCACGATT	0.522000													23	83					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	53					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132812836	132812836	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr11:132812836T>C	uc010sck.2	-	0	202	c.152A>G	c.(151-153)gAg>gGg	p.E51G	OPCML_uc001qgu.3_Missense_Mutation_p.E44G|OPCML_uc001qgs.3_Missense_Mutation_p.E51G|OPCML_uc001qgt.3_Missense_Mutation_p.E51G|OPCML_uc010scl.2_Missense_Mutation_p.E10G	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	51	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGTGGCGCTCTCCCCCTGCCG	0.667000													3	31					0	0	1	0	0
AKR7L	246181	broad.mit.edu	37	1	19597040	19597040	+	Silent	SNP	C	C	T	rs114623957	by1000genomes	TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:19597040C>T	uc021oho.1	-	2	412	c.75G>A	c.(73-75)tcG>tcA	p.S25S	AKR7L_uc021ohn.1_5'UTR					Homo sapiens aldo-keto reductase family 7-like (AKR7L), transcript variant 2, non-coding RNA.											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCAAGCTCCACGAACTTGCCC	0.617000													3	40					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47644047	47644047	+	Silent	SNP	C	C	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr4:47644047C>A	uc003gxm.3	-	15	2181	c.2088G>T	c.(2086-2088)gtG>gtT	p.V696V	CORIN_uc011bzf.2_Silent_p.V557V|CORIN_uc011bzg.2_Silent_p.V629V	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	696	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGAGGAGTTCACATTTATAG	0.448000													9	31					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27390293	27390293	+	Silent	SNP	G	G	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr11:27390293G>A	uc001mrj.4	-	17	2462	c.1977C>T	c.(1975-1977)ctC>ctT	p.L659L	LGR4_uc001mrk.4_Silent_p.L635L	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	659						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGAACTGTTTGAGATGATTGC	0.413000													13	62					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967362	81967362	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr4:81967362C>T	uc003hmg.4	+	1	1107	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	263					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ACAGGGACACCGGAATTTTCC	0.498000													4	59					0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84799015	84799015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr6:84799015C>T	uc003pkg.4	+	3	623	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	MRAP2_uc010kbo.3_Nonsense_Mutation_p.Q59*	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	145					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CGTCCAACTCCAGGAAGCCAT	0.522000													25	25					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654786	31654786	+	Silent	SNP	A	A	G			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr21:31654786A>G	uc002ynv.3	-	0	491	c.465T>C	c.(463-465)ctT>ctC	p.L155L		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	155						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATAAGCAGTTAAGTTGTCCAA	0.458000													6	89					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371510	48371510	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:48371510C>G	uc001jex.3	+	1	1140	c.978C>G	c.(976-978)ttC>ttG	p.F326L	ZNF488_uc021ppx.1_Missense_Mutation_p.F326L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGGAGCACTTCCGGGAGCGCC	0.622000													14	71					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285714	152285714	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:152285714T>C	uc001ezu.1	-	2	1684	c.1648A>G	c.(1648-1650)Aca>Gca	p.T550A	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	550	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGGGATGTGGTGTGGCTG	0.567000									Ichthyosis				56	315					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9117665	9117665	+	Silent	SNP	G	G	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:9117665G>C	uc001apo.3	-	2	427	c.135C>G	c.(133-135)ctC>ctG	p.L45L	SLC2A5_uc010nzz.2_Intron|SLC2A5_uc010oaa.2_Intron|SLC2A5_uc010oac.2_Silent_p.L45L|SLC2A5_uc001app.4_Silent_p.L45L|SLC2A5_uc021ofv.1_Non-coding_Transcript	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	45					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTTGCATGAGCTAGGAGA	0.423000													13	16					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139662001	139662001	+	Silent	SNP	A	A	G			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr8:139662001A>G	uc003yvd.3	-	45	3801	c.3354T>C	c.(3352-3354)ccT>ccC	p.P1118P	COL22A1_uc011ljo.2_Silent_p.P398P	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1118	Collagen-like 10.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCCAGGAGGGCAGTCAT	0.527000										HNSCC(7;0.00092)			5	29					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115595057	115595057	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:115595057C>T	uc001law.2	-	8	3895	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	993					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTGCTGTGTTCACTGTAAGGA	0.353000								Other identified genes with known or suspected DNA repair function					6	34					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156215632	156215632	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:156215632G>T	uc001fnz.1	-	2	624	c.8C>A	c.(7-9)cCc>cAc	p.P3H	PAQR6_uc001fnv.1_Missense_Mutation_p.P85H|PAQR6_uc010phg.1_Missense_Mutation_p.P106H|PAQR6_uc001fnx.1_Missense_Mutation_p.P3H|PAQR6_uc001fnu.1_Missense_Mutation_p.P109H|PAQR6_uc010phf.1_5'UTR|PAQR6_uc001fny.1_5'UTR|PAQR6_uc010phh.1_Missense_Mutation_p.P109H|PAQR6_uc001foa.1_Missense_Mutation_p.P3H|PAQR6_uc001fob.1_Non-coding_Transcript	NM_024897	NP_079173	Q6TCH4	PAQR6_HUMAN	Homo sapiens progestin and adipoQ receptor family member VI (PAQR6), transcript variant 1, mRNA.	109						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCGCATGCGGGGCGACATGGA	0.697000													3	7					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52820397	52820397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr3:52820397delC	uc003dfs.3	+	12	1710	c.1680delC	c.(1678-1680)aacfs	p.N560fs	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Frame_Shift_Del_p.N418fs|ITIH1_uc021wzg.1_Frame_Shift_Del_p.N272fs|ITIH1_uc021wzh.1_Frame_Shift_Del_p.N272fs|ITIH1_uc003dft.3_Frame_Shift_Del_p.N161fs	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	560	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCTGGAGAACCACGTCGAGC	0.602													4	2	---	---	---	---