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
CRYM	1428	broad.mit.edu	37	16	21281137	21281137	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr16:21281137A>G	ENST00000219599.3	-	6	728	c.463T>C	c.(463-465)Ttc>Ctc	p.F155L	CRYM_ENST00000543948.1_Missense_Mutation_p.F155L|CRYM_ENST00000396023.2_Missense_Mutation_p.F155L|CRYM_ENST00000415987.2_Missense_Mutation_p.F113L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	155					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	TGCTCTGTGAAGATCTCATAA	0.522000													31	30					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281245	25281245	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr13:25281245G>T	ENST00000218548.6	+	16	2605	c.2272G>T	c.(2272-2274)Gca>Tca	p.A758S	ATP12A_ENST00000381946.3_Missense_Mutation_p.A752S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	752					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CATGGGGATAGCAGGTTCTGA	0.552000													5	35					1.23904e-05	1.27081e-05	1	1	0
LILRB5	0	broad.mit.edu	37	19	54758866	54758866	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:54758866C>T	ENST00000450632.1	-	6	1037	c.960G>A	c.(958-960)caG>caA	p.Q320Q	LILRB5_ENST00000316219.5_Silent_p.Q329Q|LILRB5_ENST00000345866.6_Silent_p.Q229Q|LILRB5_ENST00000449561.2_Silent_p.Q329Q			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	329					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGCCCGGCTGCACCGAGA	0.607000													12	2					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123301233	123301233	+	Missense_Mutation	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:123301233C>A	ENST00000296513.2	+	3	194	c.9C>A	c.(7-9)agC>agA	p.S3R	ADAD1_ENST00000388724.2_Missense_Mutation_p.S3R|ADAD1_ENST00000388725.2_Intron	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	3					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATGGCTAGCAACAATCATT	0.448000													11	19					0.000151284	0.000153199	1	1	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	14					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055893	92055893	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr14:92055893G>A	ENST00000256343.3	-	24	3097	c.2941C>T	c.(2941-2943)Cac>Tac	p.H981Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	981					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTCCAGTTGTGCCTCATGTTC	0.363000													14	48					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234846	103234846	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:103234846C>T	ENST00000428762.1	-	26	3792	c.3633G>A	c.(3631-3633)caG>caA	p.Q1211Q	RELN_ENST00000343529.5_Silent_p.Q1211Q|RELN_ENST00000424685.2_Silent_p.Q1211Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1211					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGACTGCCCACTGGTCATAGT	0.507000													10	264					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73740894	73740894	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:73740894G>A	ENST00000276033.5	+	2	888	c.722G>A	c.(721-723)cGt>cAt	p.R241H	SLC16A2_ENST00000587091.1_Missense_Mutation_p.R167H			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	167						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TTCACTGACCGTTTGGGCTGC	0.512000													48	70					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207741294	207741294	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:207741294T>C	ENST00000367049.4	+	25	4078	c.4078T>C	c.(4078-4080)Ttc>Ctc	p.F1360L	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.F910L|CR1_ENST00000367051.1_Missense_Mutation_p.F910L|CR1_ENST00000400960.2_Missense_Mutation_p.F910L|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	910	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGGACGAGCTTCGACCTCAT	0.532000													46	98					0	0	1	0	0
LGALS1	3956	broad.mit.edu	37	22	38075664	38075664	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:38075664G>A	ENST00000215909.5	+	4	411	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	106	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	p.E106K(1)		endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					AGATGGATACGAATTCAAGTT	0.567000													28	30					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092299	151092299	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:151092299C>T	ENST00000370335.1	+	3	430	c.163C>T	c.(163-165)Cct>Tct	p.P55S	MAGEA4_ENST00000276344.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P55S|MAGEA4_ENST00000393921.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000360243.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P55S			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	55							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGAAGTGCCTGCTGCTGA	0.627000													25	58					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			58	8					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55561033	55561033	+	Missense_Mutation	SNP	T	T	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:55561033T>G	ENST00000294383.6	-	51	6097	c.6098A>C	c.(6097-6099)aAt>aCt	p.N2033T	USP24_ENST00000407756.1_Missense_Mutation_p.N1873T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2033					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATATAGGCATTCCAGTATCT	0.403000													8	11					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36537770	36537770	+	Silent	SNP	C	C	T	rs146525352	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:36537770C>T	ENST00000424878.2	-	4	2235	c.87G>A	c.(85-87)gcG>gcA	p.A29A	APOL3_ENST00000397287.2_Silent_p.A29A|APOL3_ENST00000361710.2_Silent_p.A29A|APOL3_ENST00000397293.2_Silent_p.A158A|APOL3_ENST00000349314.2_Silent_p.A229A|APOL3_ENST00000487423.1_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	229					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TCACAGCAGACGCTGCTCCCA	0.567000													15	20					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56811559	56811559	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:56811559C>T	ENST00000229201.4	-	29	3719	c.3565G>A	c.(3565-3567)Gga>Aga	p.G1189R	TIMELESS_ENST00000554616.1_Missense_Mutation_p.G687R|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G1190R	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1190					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTGGAGCTCCCAACTCTGGT	0.453000													33	37					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35959495	35959495	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:35959495C>G	ENST00000297866.5	+	3	563	c.497C>G	c.(496-498)aCt>aGt	p.T166S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	166										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTACTATCACTAACCATGGC	0.333000													12	31					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121461	38121461	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:38121461C>T	ENST00000406386.3	+	7	3153	c.2898C>T	c.(2896-2898)ggC>ggT	p.G966G	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	966					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTCCTTTGGCCCCACCCAGT	0.647000													4	174					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092272	151092272	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:151092272C>G	ENST00000370335.1	+	3	403	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	MAGEA4_ENST00000276344.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000393920.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.L46V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000360243.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000370337.4_Missense_Mutation_p.L46V			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	46							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCTCTGGTCCCTGG	0.627000													31	51					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	42					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962277	69962277	+	Silent	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:69962277A>G	ENST00000305231.7	+	1	85	c.39A>G	c.(37-39)caA>caG	p.Q13Q	UGT2B7_ENST00000508661.1_Silent_p.Q13Q|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	13					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTAATACAACTGAGCTTTT	0.413000													4	106					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71619293	71619293	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr8:71619293T>A	ENST00000408926.3	+	4	932	c.398T>A	c.(397-399)aTg>aAg	p.M133K	XKR9_ENST00000520030.1_Missense_Mutation_p.M133K|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	133						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GATTTGAGCATGCTCAGACTA	0.388000													37	64					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268814	52268814	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:52268814A>G	ENST00000442253.2	+	2	977	c.803A>G	c.(802-804)gAg>gGg	p.E268G	PAQR8_ENST00000360726.3_Missense_Mutation_p.E268G	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	268					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCCGTGCCTGAGAAGTACTTC	0.572000													37	39					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125639774	125639774	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:125639774G>A	ENST00000373670.1	-	8	1901	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	RC3H2_ENST00000423239.2_Missense_Mutation_p.A434V|RC3H2_ENST00000373665.2_Missense_Mutation_p.A434V|RC3H2_ENST00000357244.2_Missense_Mutation_p.A434V|RC3H2_ENST00000335387.5_Missense_Mutation_p.A434V			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	434						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGAGAATGGGCAAATGTACA	0.393000													4	211					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147091170	147091170	+	Missense_Mutation	SNP	A	A	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:147091170A>C	ENST00000234739.3	+	8	1949	c.1209A>C	c.(1207-1209)gaA>gaC	p.E403D		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	403	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAAAACCAGAAGGGCCAATAC	0.542000			T	"""IGH@, IGL@"""	B-ALL								31	51					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150885459	150885459	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:150885459G>A	ENST00000261800.5	-	23	12729	c.12717C>T	c.(12715-12717)ctC>ctT	p.L4239L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4239					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACGGGGTGGGAGAGGTGCCC	0.627000													4	111					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153664056	153664056	+	Missense_Mutation	SNP	A	A	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:153664056A>T	ENST00000369762.2	+	10	1293	c.1232A>T	c.(1231-1233)cAg>cTg	p.Q411L		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	411					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGGGGAGCAGTTCTCCTAC	0.597000													77	95					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48432928	48432928	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:48432928C>T	ENST00000017003.2	+	5	1123	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	XYLT2_ENST00000507602.1_Silent_p.G358G	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	358					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGTCACATGGCCGGGACAACT	0.612000													4	94					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151848014	151848014	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:151848014T>C	ENST00000355193.2	-	52	13134	c.12916A>G	c.(12916-12918)Act>Gct	p.T4306A	KMT2C_ENST00000262189.6_Missense_Mutation_p.T4249A					lysine (K)-specific methyltransferase 2C																		GCTTGTGCAGTTGATGAATAA	0.398000													33	30					0	0	1	0	0
DNAJA1	3301	broad.mit.edu	37	9	33037066	33037066	+	Missense_Mutation	SNP	A	A	G	rs144405670		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:33037066A>G	ENST00000330899.4	+	8	1111	c.928A>G	c.(928-930)Att>Gtt	p.I310V	DNAJA1_ENST00000544625.1_Missense_Mutation_p.I153V|DNAJA1_ENST00000495015.1_3'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	310					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AGGCATGCCAATTTATCGTAG	0.348000													28	4					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8228808	8228808	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:8228808C>T	ENST00000539824.1	+	12	1533	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.P463S			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	463							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCCCAGGAGCCAGCGTCCTG	0.617000													15	27					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030555	3030555	+	Missense_Mutation	SNP	A	A	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:3030555A>C	ENST00000328890.2	-	1	320	c.291T>G	c.(289-291)tgT>tgG	p.C97W		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ACTGTAGTAGACACCCTGAGT	0.502000													31	43					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115529577	115529577	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr10:115529577T>A	ENST00000361048.1	+	7	797	c.470T>A	c.(469-471)tTc>tAc	p.F157Y	PLEKHS1_ENST00000369312.4_Missense_Mutation_p.F69Y|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.F151Y	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		AGAACCCTCTTCTACTCCAGC	0.502000													47	24					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	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								35	61					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212675	55212675	+	Silent	SNP	C	C	T	rs140132589	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:55212675C>T	ENST00000447346.2	+	15	2087	c.2022C>T	c.(2020-2022)tgC>tgT	p.C674C	IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Silent_p.C532C	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	642					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGTGACCTGCCCCTTCAGGC	0.483000													18	24					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670584	186670584	+	Silent	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:186670584A>G	ENST00000343098.5	+	17	16818	c.16818A>G	c.(16816-16818)aaA>aaG	p.K5606K	FSIP2_ENST00000424728.1_Silent_p.K5517K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGACAAATAAAAAGGAAGTGG	0.348000													26	38					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57936020	57936020	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:57936020C>T	ENST00000358697.4	-	1	1047	c.835G>A	c.(835-837)Gcc>Acc	p.A279T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	279	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGCTTCTTGGCGAAGGTTTGC	0.697000													9	4					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437479	179437479	+	Silent	SNP	C	C	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:179437479C>G	ENST00000589042.1	-	326	73604	c.73380G>C	c.(73378-73380)gtG>gtC	p.V24460V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V15395V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V22819V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V21892V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.V15587V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.V15520V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22819	Fibronectin type-III 78.						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)			GGGCCCACTTCACCTCAGGTG	0.463000													5	88					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57935760	57935760	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:57935760G>A	ENST00000358697.4	-	1	1307	c.1095C>T	c.(1093-1095)tgC>tgT	p.C365C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	365	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AGCTCTCCTCGCACACCTCAC	0.607000													33	41					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135426598	135426598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:135426598C>T	ENST00000394143.1	+	6	1024	c.733C>T	c.(733-735)Caa>Taa	p.Q245*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q245*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q182*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q40*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q40*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	245					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AACTGTTTCACAACAGATAGA	0.328000													25	48					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068665	48068665	+	Translation_Start_Site	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:48068665C>T	ENST00000297325.4	-	0	30				SUN3_ENST00000395572.2_De_novo_Start_OutOfFrame|SUN3_ENST00000412142.1_De_novo_Start_OutOfFrame	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3							integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTCCTCCACGGGTGTTTCT	0.398000													6	4					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19378946	19378946	+	Missense_Mutation	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:19378946C>A	ENST00000338883.4	-	29	3862	c.3863G>T	c.(3862-3864)gGt>gTt	p.G1288V	PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G1120V|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G723V|PDHA1_ENST00000540249.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1288							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCAGAGGAGACCACCCCTGGG	0.473000													16	24					1.15088e-07	1.19572e-07	1	1	0
SLC7A10	56301	broad.mit.edu	37	19	33699847	33699847	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:33699847A>G	ENST00000253188.3	-	11	1668	c.1522T>C	c.(1522-1524)Tgc>Cgc	p.C508R		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	508					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGGTGGGCAGGGGCCATTC	0.547000													4	14					0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53292607	53292607	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:53292607A>G	ENST00000552551.1	-	7	1490	c.1058T>C	c.(1057-1059)tTg>tCg	p.L353S	KRT8_ENST00000546897.1_Missense_Mutation_p.L353S|KRT8_ENST00000293308.6_Missense_Mutation_p.L353S|KRT8_ENST00000552150.1_Missense_Mutation_p.L381S			P05787	K2C8_HUMAN	keratin 8	353	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTCGGACAACTTGGCGTT	0.637000													4	76					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179400060	179400060	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:179400060C>T	ENST00000589042.1	-	358	101506	c.101282G>A	c.(101281-101283)cGg>cAg	p.R33761Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24696Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32120Q|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31193Q|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24888Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24821Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32120							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R31191L(1)|p.R24696L(1)|p.R31193L(1)|p.R24821L(1)|p.R24888L(1)		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)			AGCTATTACCCGGAACTGGTA	0.418000													6	138					0	0	1	0	0
TES	26136	broad.mit.edu	37	7	115891827	115891827	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:115891827G>A	ENST00000358204.4	+	5	931	c.716G>A	c.(715-717)tGc>tAc	p.C239Y	TES_ENST00000393481.2_Missense_Mutation_p.C230Y|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_5'UTR	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	239	LIM zinc-binding 1.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TGCTATTGCTGCAAACTGAGT	0.438000													4	123					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043306	20043306	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr16:20043306G>A	ENST00000570682.1	-	2	1113	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	271						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGGCTAGCATGTTGGCAATGT	0.552000													29	44					0	0	1	0	0
C4A	720	broad.mit.edu	37	6	31963505	31963505	+	Missense_Mutation	SNP	G	G	A	rs143990092		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:31963505G>A	ENST00000428956.2	+	25	3248	c.3164G>A	c.(3163-3165)cGg>cAg	p.R1055Q	C4A_ENST00000498271.1_Missense_Mutation_p.R1055Q	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		GGCTACATGCGGATCCAGCAG	0.607000													5	66					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25467402	25467402	+	RNA	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:25467402C>A	ENST00000424208.1	+	0	3136				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						AAGCTCAGACCCTTCCTGGTT	0.607000													26	32					1.64293e-13	1.75246e-13	1	1	0
AGBL1	123624	broad.mit.edu	37	15	86940603	86940603	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:86940603G>A	ENST00000441037.2	+	17	2338	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	748					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAGGACATCGTCCATATCAG	0.403000													3	23					0	0	1	0	0
CGB8	94115	broad.mit.edu	37	19	49552213	49552213	+	Translation_Start_Site	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:49552213C>T	ENST00000355414.2	-	0	187				CGB8_ENST00000448456.3_De_novo_Start_OutOfFrame			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 8						apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GCGGAGACCACGGTGAAGTGA	0.642000													4	0					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466710	56466710	+	Missense_Mutation	SNP	G	G	A	rs150630809	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:56466710G>A	ENST00000291971.3	+	3	1357	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R429Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	429	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGTTCGTCCGGTATATTTCT	0.493000													38	12					0	0	1	0	0
LILRA2	0	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647000													3	49					0	0	1	0	0
RBX1	9978	broad.mit.edu	37	22	41347409	41347409	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:41347409G>A	ENST00000216225.8	+	1	47	c.7G>A	c.(7-9)Gca>Aca	p.A3T	XPNPEP3_ENST00000544094.1_Intron	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	3					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						CAAAATGGCGGCAGCGATGGA	0.662000													6	20					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463168	26463168	+	Silent	SNP	T	T	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr10:26463168T>A	ENST00000265944.5	+	30	4141	c.3975T>A	c.(3973-3975)cgT>cgA	p.R1325R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1325					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCAGAGGCCGTCTGAGGCATG	0.483000													6	93					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71208529	71208529	+	Splice_Site	SNP	G	G	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:71208529G>C	ENST00000319023.2	+	19	1953	c.1764_splice	c.e19-1	p.E589_splice	NADSYN1_ENST00000530055.1_Splice_Site_p.E218_splice|NADSYN1_ENST00000539574.1_Splice_Site_p.E329_splice	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	589	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTGTGCACAGGAAGATATGGG	0.517000													3	41					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921320	25921320	+	Splice_Site	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:25921320C>A	ENST00000377850.3	-	5	1000	c.474_splice	c.e5-1	p.G159_splice	SLC17A2_ENST00000360488.3_Splice_Site_p.G159_splice|SLC17A2_ENST00000265425.3_Splice_Site_p.G159_splice			O00624	NPT3_HUMAN	solute carrier family 17, member 2	159					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CCATGCCATTCCCTGAAATGA	0.448000													16	22					6.72482e-11	7.07876e-11	1	1	0
FANCD2	2177	broad.mit.edu	37	3	10134979	10134979	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr3:10134979G>A	ENST00000287647.3	+	39	3953	c.3860G>A	c.(3859-3861)aGt>aAt	p.S1287N	FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.S1287N|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.S1287N|FANCD2OS_ENST00000524279.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1287					DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.S1287I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTATTTGATAGTCATCCTGTT	0.478000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				37	61					0	0	1	0	0
SETD9	133383	broad.mit.edu	37	5	56207034	56207034	+	Missense_Mutation	SNP	T	T	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:56207034T>G	ENST00000285947.2	+	2	523	c.137T>G	c.(136-138)gTt>gGt	p.V46G	SETD9_ENST00000541720.1_Missense_Mutation_p.V46G|SETD9_ENST00000475908.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	46																	AAAGACAAAGTTATCTCAGAT	0.368000													26	30					0	0	1	0	0
MALAT1	0	broad.mit.edu	37	11	65268906	65268906	+	RNA	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:65268906C>A	ENST00000534336.1	+	0	3674					NR_002819.2																						GGAGAAATGGCTGGTAGTTAC	0.403000													3	17					0.004672	0.004672	1	1	0
PWWP2B	170394	broad.mit.edu	37	10	134218307	134218307	+	Silent	SNP	A	A	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr10:134218307A>C	ENST00000305233.5	+	2	362	c.303A>C	c.(301-303)ccA>ccC	p.P101P	PWWP2B_ENST00000368609.4_Silent_p.P101P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	101	Pro-rich.							p.P101P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCCGAGCCACCCCCGCCCC	0.756000													5	4					0	0	1	0	0
CLCN4	0	broad.mit.edu	37	X	10176604	10176604	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:10176604G>A	ENST00000380833.4	+	9	1754	c.1363G>A	c.(1363-1365)Gtt>Att	p.V455I	CLCN4_ENST00000421085.2_Missense_Mutation_p.V361I|CLCN4_ENST00000380829.1_Missense_Mutation_p.V424I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	455						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.V455F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAATCGTCGTTACCATATT	0.527000													42	54					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20643858	20643858	+	RNA	SNP	T	T	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:20643858T>C	ENST00000428453.1	-	0	3601																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTCAGCTGATTCAATGGGCA	0.468000													40	71					0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47485791	47485791	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:47485791G>A	ENST00000247153.3	-	8	1309	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	CFP_ENST00000396992.3_Silent_p.D356D|CFP_ENST00000377005.2_Silent_p.D356D	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	356	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATCGATGTCCGTCAAACTTGC	0.607000													6	13					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058377	56058377	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:56058377C>T	ENST00000313022.2	-	1	189	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGTGTGAAGCTGGAGGTCCA	0.413000													111	119					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372296	76372296	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:76372296G>A	ENST00000407242.2	-	3	583	c.341C>T	c.(340-342)gCg>gTg	p.A114V	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.A114V|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.A114V	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	114						integral to plasma membrane		p.A114E(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCACTCAGCGCAGTGGCCAT	0.677000													22	30					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24843938	24843938	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:24843938A>G	ENST00000313367.2	-	22	3014	c.2563T>C	c.(2563-2565)Ttc>Ctc	p.F855L	OSBPL3_ENST00000352860.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.F788L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000431825.2_Missense_Mutation_p.F788L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	855					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACGAACCTGAAAAACCGAGGC	0.463000													41	51					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53907717	53907717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:53907717G>A	ENST00000396328.1	-	15	2925	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*	WDR72_ENST00000360509.5_Nonsense_Mutation_p.R896*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.R906*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.R893*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	896										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTGACTCTCGCAAAGAATCA	0.343000													18	30					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24187604	24187604	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr8:24187604T>C	ENST00000265769.4	+	11	1189	c.1079T>C	c.(1078-1080)aTa>aCa	p.I360T	ADAM28_ENST00000540823.1_Missense_Mutation_p.I127T|ADAM28_ENST00000397649.3_Missense_Mutation_p.I107T|ADAM28_ENST00000437154.2_Missense_Mutation_p.I360T|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	360	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCTTCTACAATATGTGTGATG	0.473000													6	61					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22245635	22245635	+	Missense_Mutation	SNP	A	A	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:22245635A>T	ENST00000379374.4	+	20	2542	c.1977A>T	c.(1975-1977)aaA>aaT	p.K659N	PHEX_ENST00000537599.1_Missense_Mutation_p.K659N|PHEX_ENST00000418858.3_Missense_Mutation_p.K362N|PHEX_ENST00000535894.1_Missense_Mutation_p.K562N	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	659					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTACAGGAAATGGATAAATG	0.453000													28	25					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161469730	161469730	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:161469730G>A	ENST00000392142.4	+	3	574	c.426G>A	c.(424-426)caG>caA	p.Q142Q	MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Silent_p.Q142Q|MAP3K4_ENST00000366920.2_Silent_p.Q142Q|MAP3K4_ENST00000348824.7_Silent_p.Q142Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	142					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCTATAAGCAGGAGAAAAAGA	0.373000													27	36					0	0	1	0	0
AC074391.1	0	broad.mit.edu	37	2	65893473	65893473	+	RNA	DEL	T	T	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:65893473delT	ENST00000377977.3	+	0	862																											cctgggcccctgatgagtcat	0.493													4	4	---	---	---	---					
ADRA2B	151	broad.mit.edu	37	2	96780731	96780733	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:96780731_96780733delGAA	ENST00000409345.3	-	1	1251_1253	c.1156_1158delTTC	c.(1156-1158)del	p.F386del		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	389					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCTGTAGCTGAAGAAGAAGGGG	0.596													12	17	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
ZNF876P	0	broad.mit.edu	37	4	206661	206664	+	RNA	DEL	CGAA	CGAA	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:206661_206664delCGAA	ENST00000356347.3	+	0	172					NR_027481.1																						ACCCAGTCTGCGAACGGAGTCCCC	0.730													6	9	---	---	---	---					
PLG	5340	broad.mit.edu	37	6	161152785	161152786	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:161152785_161152786delTT	ENST00000308192.9	+	12	1510_1511	c.1447_1448delTT	c.(1447-1449)tfs	p.F483fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	483	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGACTGTATGTTTGGGAATGGG	0.495													28	50	---	---	---	---					
VKORC1L1	154807	broad.mit.edu	37	7	65419354	65419356	+	In_Frame_Del	DEL	TTA	TTA	-	rs71982071		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:65419354_65419356delTTA	ENST00000434382.2	+	2	491_493	c.488_490delTTA	c.(487-492)ttt>t	p.FI163del	VKORC1L1_ENST00000360768.3_3'UTR			Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	CAGCAGGTTTttattattattat	0.409													2	4	---	---	---	---					
PMS2P3	0	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:75142142delA	ENST00000418756.1	-	0	991					NR_028059.1															lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													5	7	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													9	148	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347145	56347145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:56347145delC	ENST00000331886.5	+	23	2529	c.2075delC	c.(2074-2076)acfs	p.T692fs	DGKA_ENST00000551156.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Del_p.T692fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	692					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ACCACAAAAACCCTTCCCATG	0.463													143	179	---	---	---	---					
KCNMB4	27345	broad.mit.edu	37	12	70824293	70824294	+	In_Frame_Ins	INS	-	-	ATGATG			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:70824293_70824294insATGATG	ENST00000258111.4	+	3	952_953	c.493_494insATGATG	c.(493-495)tga>ATGATGtga	p.164_165insMM		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	164					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCATCGCACTCATGATGAGATT	0.490													39	83	---	---	---	---					
RP11-796E2.4	0	broad.mit.edu	37	12	92562665	92562666	+	RNA	INS	-	-	A	rs111983039		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:92562665_92562666insA	ENST00000499685.2	+	0	164																											AGTAGGTGTTTAAAAAAAAAAA	0.401													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76889121	76889122	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:76889121_76889122insT	ENST00000373344.5	-	18	5102_5103	c.4888_4889insA	c.(4888-4890)tgcfs	p.C1630fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.C1592fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1630	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATTCAAAGCAGTATTAAGAGGA	0.337			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						40	57	---	---	---	---					
