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
NUP133	55746	broad.mit.edu	37	1	229623237	229623237	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr1:229623237C>T	uc001htn.3	-	9	1410	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	440					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACAATTTTCTCCTGGGGAAGA	0.413000													36	50					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924423	70924423	+	Silent	SNP	C	C	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:70924423C>A	uc001xmd.3	+	1	465	c.207C>A	c.(205-207)ggC>ggA	p.G69G	ADAM21_uc021rvq.1_Silent_p.G69G	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	69					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTTTGGGGGCCAGAAACACG	0.527000													17	152					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57543196	57543196	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr3:57543196G>A	uc003diw.4	+	0	1216	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	PDE12_uc003div.3_Missense_Mutation_p.A364T	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	364							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CTTGGTACCCGCCCTAGAGGC	0.557000													3	43					0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33647274	33647274	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr18:33647274G>C	uc002kzg.3	-	0	100	c.94C>G	c.(94-96)Cac>Gac	p.H32D	RPRD1A_uc002kze.1_5'UTR|RPRD1A_uc010dmw.3_5'UTR|RPRD1A_uc010dmx.3_Missense_Mutation_p.H32D	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.	32	CID.									NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTACGGTGGTGAATGAGCCAC	0.627000													4	10					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	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				27	45					0	0	1	0	0
MRPL16	54948	broad.mit.edu	37	11	59573896	59573896	+	Missense_Mutation	SNP	C	C	T	rs117253311	by1000genomes	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:59573896C>T	uc001noh.2	-	3	894	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	Homo sapiens mitochondrial ribosomal protein L16 (MRPL16), nuclear gene encoding mitochondrial protein, mRNA.	227							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CAGTACTTTCCGTATGCCCAG	0.463000													5	143					0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72090087	72090087	+	Silent	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr16:72090087G>A	uc002fbr.4	+	1	77	c.33G>A	c.(31-33)ctG>ctA	p.L11L	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.L11L|HP_uc021tld.1_Silent_p.L11L|HP_uc002fbt.4_Silent_p.L11L	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	11					cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TTGCCCTCCTGCTCTGGGGAC	0.547000													24	37					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43056987	43056987	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr20:43056987A>T	uc002xma.3	+	8	1231	c.1142A>T	c.(1141-1143)gAt>gTt	p.D381V	HNF4A_uc002xlu.3_Missense_Mutation_p.D359V|HNF4A_uc002xlv.3_Missense_Mutation_p.D359V|HNF4A_uc010ggq.3_Missense_Mutation_p.D374V|HNF4A_uc002xlz.3_Missense_Mutation_p.D381V	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	381					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCCAGCGATGCACCCCAT	0.597000													10	47					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061128	15061128	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr19:15061128C>T	uc002naa.1	-	8	1581	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	SLC1A6_uc010dzu.1_Missense_Mutation_p.R447Q|SLC1A6_uc010xod.1_Missense_Mutation_p.R461Q	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	525					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CTCCAGCTCCCGCTGAGACAA	0.612000													20	42					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45972977	45972977	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr22:45972977G>A	uc003bgj.1	+	15	2108	c.1961G>A	c.(1960-1962)gGc>gAc	p.G654D		NM_006486	NP_006477	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.	654					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.D653E(1)|p.D653D(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACATGGACGGCATGACCGTG	0.582000													3	33					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6588368	6588368	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:6588368A>C	uc001mdw.4	+	35	12193	c.11629A>C	c.(11629-11631)Agc>Cgc	p.S3877R	DNHD1_uc001mea.4_Missense_Mutation_p.S146R|DNHD1_uc001meb.3_Missense_Mutation_p.S145R|DNHD1_uc001mec.3_Missense_Mutation_p.S145R|DNHD1_uc010rao.2_Missense_Mutation_p.S135R|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	3877					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTTCTGTATGAGCCCAGAGAA	0.537000													8	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612467	179612467	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:179612467A>G	uc002unb.2	-	45	14885	c.14660T>C	c.(14659-14661)aTt>aCt	p.I4887T	TTN_uc021vsy.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant novex-3, mRNA.	1010	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATTTAGGAATATTTTGAGA	0.378000													10	33					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102307352	102307352	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr6:102307352G>A	uc003pqp.4	+	9	1801	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	GRIK2_uc003pqn.3_Missense_Mutation_p.R503H|GRIK2_uc010kcw.3_Missense_Mutation_p.R503H|GRIK2_uc003pqo.4_Missense_Mutation_p.R503H|GRIK2_uc021zdk.1_Missense_Mutation_p.R503H|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	503					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GGAATGGTTCGTGAACTAATT	0.353000													7	49					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973686	64973686	+	Silent	SNP	G	G	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr10:64973686G>T	uc001jmn.3	-	7	2541	c.2241C>A	c.(2239-2241)acC>acA	p.T747T	JMJD1C_uc001jml.3_Silent_p.T528T|JMJD1C_uc001jmm.3_Silent_p.T459T|JMJD1C_uc010qiq.2_Silent_p.T565T|JMJD1C_uc009xpi.3_Silent_p.T565T|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Silent_p.T459T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	747					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATTTAAACAGGTTCTATGAG	0.438000													27	39					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103059671	103059671	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:103059671A>C	uc002tbx.3	+	7	1292	c.808A>C	c.(808-810)Act>Cct	p.T270P	IL18RAP_uc010fiz.3_Missense_Mutation_p.T128P	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	270	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAAGCCTTTAACTATTAGCTG	0.438000													16	48					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076926	40076926	+	Silent	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr12:40076926C>T	uc001rmc.3	+	7	1367	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	400										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTACCCAAGCAGCTCTGAAA	0.294000													19	25					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923208	89923208	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr5:89923208C>T	uc003kju.3	+	6	949	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	285					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.R285C(2)|p.V284V(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCAGTAGTTCGTGGAAAGGA	0.398000													5	96					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100808866	100808866	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:100808866C>A	uc001yhh.1	-	8	1363	c.982G>T	c.(982-984)Ggc>Tgc	p.G328C	WARS_uc001yhi.1_Missense_Mutation_p.G287C|WARS_uc001yhg.2_Missense_Mutation_p.G328C|WARS_uc001yhl.1_Missense_Mutation_p.G328C|WARS_uc001yhk.1_Missense_Mutation_p.G287C	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	328					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TTAGGATAGCCGATCCTGGGG	0.582000													3	24					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	216977742	216977742	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:216977742G>A	uc002vfy.3	+	1	165	c.25G>A	c.(25-27)Gct>Act	p.A9T		NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	9					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTCCAGGCAGCTGTTGTGCT	0.398000								Non-homologous end-joining					34	60					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110410703	110410703	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr8:110410703delT	uc003yne.3	+	11	1042	c.938delT	c.(937-939)attfs	p.I313fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	313	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTTGTGATATTTTGAATGTC	0.368										HNSCC(38;0.096)			2	4	---	---	---	---