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
RANBP2	5903	broad.mit.edu	37	2	109367844	109367844	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:109367844T>G	ENST00000283195.6	+	10	1524	c.1398T>G	c.(1396-1398)caT>caG	p.H466Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	466					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.H466Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTGCCCCATGAAACCTCAA	0.358000													5	693					0	0	1	0	0
FAM71F1	84691	broad.mit.edu	37	7	128370052	128370052	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:128370052C>T	ENST00000315184.5	+	6	1003	c.950C>T	c.(949-951)tCc>tTc	p.S317F	FAM71F1_ENST00000485070.1_Missense_Mutation_p.S216F	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	317										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GAGAACCCCTCCGGCCTGCAG	0.592000													8	255					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	135					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796227	57796227	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:57796227G>A	ENST00000309042.7	+	4	1517	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	401	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTTCCAAGAAGTGTAATCTAC	0.378000													13	420					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6701634	6701634	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr12:6701634A>C	ENST00000309577.6	-	19	3036	c.2873T>G	c.(2872-2874)cTc>cGc	p.L958R	CHD4_ENST00000357008.2_Missense_Mutation_p.L958R|CHD4_ENST00000544484.1_Missense_Mutation_p.L955R|CHD4_ENST00000544040.1_Missense_Mutation_p.L951R			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	958					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.L958H(2)		central_nervous_system(2)	2						ATCGGCTTTGAGCCGCCGCAA	0.502000													10	217					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68153885	68153885	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:68153885C>T	ENST00000294304.7	+	6	1223	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	373	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACGACATCCGGCACGCCAT	0.657000													4	101					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138832962	138832962	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:138832962G>A	ENST00000464848.1	+	7	636	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	TTC26_ENST00000474035.2_Missense_Mutation_p.A186T|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.A155T|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000430935.1_Missense_Mutation_p.A186T|TTC26_ENST00000495038.1_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	186							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GGAATACCTTGCCCTTAATGT	0.383000													25	277					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16475544	16475544	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:16475544G>A	ENST00000334133.4	-	3	418	c.145_splice	c.e3-1	p.A49_splice	RFTN1_ENST00000432519.1_Splice_Site_p.A13_splice	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	49						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGGGAGCTCCGCTGGAGTGGA	0.662000													7	48					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714762	183714762	+	Silent	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:183714762C>T	ENST00000511685.1	+	26	7060	c.6937C>T	c.(6937-6939)Ctg>Ttg	p.L2313L	TENM3_ENST00000406950.2_Silent_p.L2313L					teneurin transmembrane protein 3																		TGGGCTTATGCTGAAACAGAT	0.418000													5	84					0	0	1	0	0
ATF4P4	0	broad.mit.edu	37	11	113661671	113661671	+	RNA	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:113661671G>A	ENST00000393544.2	+	0	1719																											AAAGGAGGAAGACACCCCTTC	0.502000													42	39					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146125579	146125579	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:146125579C>T	ENST00000237281.4	-	2	2129	c.1963G>A	c.(1963-1965)Ggc>Agc	p.G655S		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	655							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATGACCATGCCACGAGACTGA	0.438000													6	160					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													6	246					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796351	69796351	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:69796351G>A	ENST00000251566.4	-	5	1247	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A117V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	406						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCTCCTTTGGCCTTCATGTG	0.428000													26	305					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130992408	130992408	+	Missense_Mutation	SNP	C	C	T	rs144676044	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:130992408C>T	ENST00000383366.4	+	17	2001	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	NEK11_ENST00000510688.1_Intron|NEK11_ENST00000508196.1_Missense_Mutation_p.R570C|NEK11_ENST00000412440.2_Missense_Mutation_p.R386C|NEK11_ENST00000510769.1_Missense_Mutation_p.R465C|NEK11_ENST00000429253.2_Missense_Mutation_p.R570C	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	570					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CAAGATGAAACGCATGAGGGA	0.478000													27	46					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155240701	155240701	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr1:155240701C>T	ENST00000368361.4	-	2	383	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	CLK2_ENST00000355560.4_Missense_Mutation_p.R23Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R23Q|CLK2_ENST00000536801.1_Missense_Mutation_p.R23Q			P49760	CLK2_HUMAN	CDC-like kinase 2	23						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTCGGCTCCGATAGTGTTC	0.572000								Other conserved DNA damage response genes					7	137					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577107	7577107	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:7577107A>C	ENST00000420246.2	-	8	963	c.831T>G	c.(829-831)tgT>tgG	p.C277W	TP53_ENST00000445888.2_Missense_Mutation_p.C277W|TP53_ENST00000269305.4_Missense_Mutation_p.C277W|TP53_ENST00000359597.4_Missense_Mutation_p.C277W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C277W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; 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.0?(8)|p.C277*(8)|p.C277C(4)|p.?(2)|p.P278fs*28(2)|p.C277W(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		CTCTCCCAGGACAGGCACAAA	0.547000		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)			28	27					0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126135266	126135266	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:126135266A>G	ENST00000332118.6	-	10	1362	c.1208T>C	c.(1207-1209)gTa>gCa	p.V403A	SRPR_ENST00000532259.1_Missense_Mutation_p.V375A	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	403					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GAGCATGTCTACACGACGCTG	0.572000													5	95					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111156557	111156557	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr13:111156557G>A	ENST00000360467.5	+	45	4654	c.4348G>A	c.(4348-4350)Ggc>Agc	p.G1450S	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1450	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCTGTTCCCGGCTTCCGGGG	0.597000													4	160					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6578375	6578375	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:6578375G>A	ENST00000285599.3	+	2	245	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R70H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	70					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.R70L(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGCCAGCAGCGCCGGTTCATC	0.627000													48	172					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168471	25168471	+	RNA	SNP	C	C	T	rs61946941	by1000genomes	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr13:25168471C>T	ENST00000453498.1	+	0	1143																											CATCTCTGTACGATGATGTGA	0.358000													4	68					0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35841995	35841995	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr10:35841995G>A	ENST00000374704.4	+	8	808	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	CCNY_ENST00000265375.9_Missense_Mutation_p.A156T|CCNY_ENST00000374706.1_Missense_Mutation_p.A156T|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000339497.5_Missense_Mutation_p.A185T	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	210	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	p.A156T(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TATCTGTCCGGCCAACTGGAA	0.473000													4	218					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1415355	1415355	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:1415355G>C	ENST00000446702.2	+	15	2481	c.1854G>C	c.(1852-1854)tgG>tgC	p.W618C	CNTN6_ENST00000539053.1_Missense_Mutation_p.W546C|CNTN6_ENST00000350110.2_Missense_Mutation_p.W618C			Q9UQ52	CNTN6_HUMAN	contactin 6	618	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACTAAGTTGGAGAGCAGGCC	0.443000													10	147					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81052021	81052021	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr10:81052021G>A	ENST00000334512.5	+	11	1437	c.865G>A	c.(865-867)Gca>Aca	p.A289T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	289	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			agcggcagtggcagcagcagc	0.652000													44	123					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152420364	152420364	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:152420364G>A	ENST00000397345.3	-	118	18754	c.18552C>T	c.(18550-18552)gcC>gcT	p.A6184A	NEB_ENST00000604864.1_Silent_p.A6184A|NEB_ENST00000409198.1_Silent_p.A4483A|NEB_ENST00000172853.10_Silent_p.A4483A|NEB_ENST00000427231.2_Silent_p.A6184A|NEB_ENST00000603639.1_Silent_p.A6184A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6173					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGCATGCTTGGCTCCAACAA	0.488000													17	27					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126758455	126758455	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:126758455G>A	ENST00000274473.6	+	14	1951	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	MEGF10_ENST00000418761.2_Missense_Mutation_p.G562R|MEGF10_ENST00000503335.2_Missense_Mutation_p.G562R|MEGF10_ENST00000508365.1_Missense_Mutation_p.G562R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	562	EGF-like 10.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGCCTCCCCGGATGGTCAGG	0.572000													28	32					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108032484	108032484	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:108032484G>A	ENST00000278612.8	-	17	3434	c.3329C>T	c.(3328-3330)cCt>cTt	p.P1110L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1110					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATTATTAGAAGGGGGTTTTAA	0.428000													5	208					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230633990	230633990	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:230633990G>C	ENST00000283943.5	-	39	5813	c.5635C>G	c.(5635-5637)Ctg>Gtg	p.L1879V	TRIP12_ENST00000389044.4_Missense_Mutation_p.L1927V|TRIP12_ENST00000389045.3_Missense_Mutation_p.L1609V	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1879					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CATTCCATCAGTGTCTTTGCA	0.423000													4	310					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133670117	133670117	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:133670117C>A	ENST00000310926.4	-	6	1069	c.796G>T	c.(796-798)Gct>Tct	p.A266S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A190S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	266					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						ACCAATAAAGCTGAAGAAATG	0.498000													69	78					3.07184e-27	3.07184e-27	1	1	0
OR5L1	219437	broad.mit.edu	37	11	55579457	55579457	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:55579457A>T	ENST00000333973.2	+	1	604	c.515A>T	c.(514-516)aAt>aTt	p.N172I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TATAGATCTAATGTGATTAAC	0.458000													197	262					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124744124	124744124	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:124744124G>A	ENST00000397801.1	+	12	2135	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R626H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	648					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAGCCTGTCCGTACACAGGGT	0.557000													4	100					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30842415	30842415	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:30842415C>G	ENST00000454381.3	-	12	1262	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q	GADL1_ENST00000282538.5_Missense_Mutation_p.E406Q			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	406					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	ACTCTTTCTTCAAGGCCTAAT	0.468000													51	87					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								58	92					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53613509	53613509	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:53613509G>A	ENST00000342160.3	-	38	5222	c.4765C>T	c.(4765-4767)Ctg>Ttg	p.L1589L	HUWE1_ENST00000262854.6_Silent_p.L1589L|HUWE1_ENST00000218328.8_Silent_p.L1589L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1589					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAATCAATCAGGAGCAACACT	0.383000													4	39					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736000													5	72					0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433000													4	224					0	0	1	0	0
MS4A8	83661	broad.mit.edu	37	11	60482560	60482560	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:60482560G>A	ENST00000300226.2	+	6	804	c.601G>A	c.(601-603)Gca>Aca	p.A201T		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		CATCGCATGCGCATCTTCCCA	0.562000													5	382					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627189	21627189	+	Splice_Site	SNP	A	A	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:21627189A>G	ENST00000425654.2	+	19	2536	c.2055_splice	c.e19-1	p.M686_splice	CNKSR2_ENST00000379510.3_Splice_Site_p.M716_splice|CNKSR2_ENST00000279451.4_Splice_Site_p.M716_splice|CNKSR2_ENST00000543067.1_Splice_Site_p.M667_splice	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	716					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CTTTCTACAGATGAGTTGCGC	0.453000													11	43					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329160	80329160	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:80329160G>A	ENST00000358842.3	-	1	212	c.195C>T	c.(193-195)taC>taT	p.Y65Y		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	65					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.Y65Y(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTATACACTCGTAGACAGACT	0.408000													7	336					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123732466	123732466	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr9:123732466C>T	ENST00000223642.1	-	32	4173	c.4144G>A	c.(4144-4146)Gat>Aat	p.D1382N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1382					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCCTGAGTATCGATTTTCAAA	0.338000													36	47					0	0	1	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64948338	64948338	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:64948338C>T	ENST00000399438.3	+	7	857	c.512C>T	c.(511-513)cCa>cTa	p.P171L	TRAPPC13_ENST00000505553.1_Missense_Mutation_p.P171L|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.P171L|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.P171L|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.P171L	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13																		GTTCTCAAACCATTGGATGTG	0.289000													31	95					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65054839	65054839	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr14:65054839G>A	ENST00000298705.1	+	11	1004	c.908G>A	c.(907-909)cGc>cAc	p.R303H	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	303																	ATGGCAAAACGCCCAGCAATT	0.448000													5	188					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949350	89949350	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:89949350G>A	ENST00000405460.2	+	20	4055	c.3959G>A	c.(3958-3960)cGt>cAt	p.R1320H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1320				R -> G (in Ref. 2; AAL30811).	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CACATGCGGCGTCACCACAGT	0.463000													33	61					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677187	48677187	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:48677187G>A	ENST00000352832.5	+	16	3960	c.3588G>A	c.(3586-3588)ctG>ctA	p.L1196L	CACNA1G_ENST00000510115.1_Silent_p.L1196L|CACNA1G_ENST00000515165.1_Silent_p.L1219L|CACNA1G_ENST00000359106.5_Silent_p.L1219L|CACNA1G_ENST00000514079.1_Silent_p.L1219L|CACNA1G_ENST00000507510.2_Silent_p.L1219L|CACNA1G_ENST00000507609.1_Silent_p.L1219L|CACNA1G_ENST00000507336.1_Silent_p.L1219L|CACNA1G_ENST00000514181.1_Silent_p.L1219L|CACNA1G_ENST00000513964.1_Silent_p.L1219L|CACNA1G_ENST00000512389.1_Silent_p.L1219L|CACNA1G_ENST00000513689.2_Silent_p.L1219L|CACNA1G_ENST00000358244.5_Silent_p.L1196L|CACNA1G_ENST00000507896.1_Silent_p.L1219L|CACNA1G_ENST00000514717.1_Silent_p.L1196L|CACNA1G_ENST00000515411.1_Silent_p.L1219L|CACNA1G_ENST00000442258.2_Silent_p.L1196L|CACNA1G_ENST00000416767.4_Silent_p.L1219L|CACNA1G_ENST00000515765.1_Silent_p.L1219L|CACNA1G_ENST00000502264.1_Silent_p.L1196L|CACNA1G_ENST00000503485.1_Silent_p.L1219L|CACNA1G_ENST00000505165.1_Silent_p.L1219L|CACNA1G_ENST00000510366.1_Silent_p.L1219L|CACNA1G_ENST00000429973.2_Silent_p.L1219L|CACNA1G_ENST00000360761.4_Silent_p.L1196L|CACNA1G_ENST00000354983.4_Silent_p.L1196L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1219					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCCCCCACTGGATGGGGATG	0.672000													21	53					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609784	32609784	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:32609784G>A	ENST00000343139.5	+	3	469	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.V123M|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.V123M	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGTCTCCCGTGACACTGGG	0.502000													16	81					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101138798	101138798	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:101138798T>C	ENST00000372782.3	-	7	1648	c.1601A>G	c.(1600-1602)cAt>cGt	p.H534R	ZMAT1_ENST00000540921.1_Missense_Mutation_p.H534R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.H363R	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	363						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTCTGTTTATGACCTGCTTG	0.388000													51	41					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11684410	11684410	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:11684410A>G	ENST00000262442.3	+	39	7705	c.7637A>G	c.(7636-7638)gAc>gGc	p.D2546G	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2546	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCATTGATGACATGAACATG	0.547000													3	75					0	0	1	0	0
ZNF117	51351	broad.mit.edu	37	7	64439187	64439187	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:64439187G>A	ENST00000282869.5	-	4	2046	c.762C>T	c.(760-762)tgC>tgT	p.C254C		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AAGCTTTGCCGCATTCTTCAC	0.368000													4	190					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140842	143140842	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:143140842G>A	ENST00000332690.1	+	1	297	c.297G>A	c.(295-297)caG>caA	p.Q99Q	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	99					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TAGCTTTCCAGTGGGACTTCC	0.483000													85	216					0	0	1	0	0
RLN2	6019	broad.mit.edu	37	9	5304440	5304440	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552000													4	120					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10398786	10398786	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:10398786G>A	ENST00000379613.3	-	7	1440	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	TFAP2A_ENST00000319516.4_Missense_Mutation_p.A389V|TFAP2A_ENST00000379604.2_Missense_Mutation_p.A393V|TFAP2A_ENST00000482890.1_Missense_Mutation_p.A393V|TFAP2A_ENST00000379608.3_Missense_Mutation_p.A387V			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	393	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGTGACCGCGGCACACACCGC	0.627000													5	625					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:46620496A>G	ENST00000330070.4	-	2	2172	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	HOXB2_ENST00000504772.3_5'UTR	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	335					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P335P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587000													5	330					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68941443	68941443	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr16:68941443G>A	ENST00000261778.1	+	10	1777	c.1765G>A	c.(1765-1767)Ggt>Agt	p.G589S		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		CCAGGAATGCGGTTTGGCAGG	0.507000													3	64					0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	15013750	15013750	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr21:15013750C>A	ENST00000299443.5	+	11	1670	c.1618C>A	c.(1618-1620)Cta>Ata	p.L540I		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	540						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AAGACTGGAACTAGATGAAAC	0.368000													76	134					4.03997e-35	4.10213e-35	1	1	0
EOGT	285203	broad.mit.edu	37	3	69056865	69056865	+	Translation_Start_Site	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:69056865G>A	ENST00000540955.1	-	0	850				EOGT_ENST00000540764.1_Splice_Site_p.T39_splice|EOGT_ENST00000383701.3_Splice_Site_p.T140_splice|EOGT_ENST00000295571.5_Splice_Site_p.T140_splice					EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		AATACCCACCGTTTCCTTAGG	0.403000													131	149					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				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	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													4	82					0	0	1	0	0
AC007255.7	0	broad.mit.edu	37	7	29699825	29699826	+	RNA	DEL	TT	TT	-	rs142232912		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:29699825_29699826delTT	ENST00000426767.1	-	0	366					NR_024278.1																						ATTATTGACCTTTTTTTTTTCA	0.252													4	4	---	---	---	---					
COPS6	10980	broad.mit.edu	37	7	99688278	99688281	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:99688278_99688281delGTGA	ENST00000303904.3	+	5	523		c.e5+1		COPS6_ENST00000418625.1_Splice_Site	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6						cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCACACAGATGTGAGTAATACTCC	0.490													57	96	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaa>a	p.KE506del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	506					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				7	167	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr21:11058447_11058450delAAAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAAAATATTAAACAAAGGATTCG	0.294													7	34	---	---	---	---