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
CPAMD8	27151	broad.mit.edu	37	19	17039029	17039029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:17039029C>A	ENST00000443236.1	-	25	3332	c.3301G>T	c.(3301-3303)Gag>Tag	p.E1101*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1054						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGGATGGCTCTGGACCATGG	0.582000													4	153					0.150653	0.159117	0.150653	1	0
MAST2	23139	broad.mit.edu	37	1	46295226	46295226	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:46295226G>T	ENST00000361297.2	+	3	724	c.441G>T	c.(439-441)caG>caT	p.Q147H	MAST2_ENST00000372009.2_Missense_Mutation_p.Q147H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	147					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCTTGGACAGTCTGCACCTT	0.448000													3	146					0.00909568	0.00982752	0.150653	1	0
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTTGAGGCCGGCATAAACCCC	0.517000													5	228					0	0	0.014758	0	0
DNAH11	8701	broad.mit.edu	37	7	21678576	21678576	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:21678576G>T	ENST00000328843.6	+	28	4883	c.4852G>T	c.(4852-4854)Gct>Tct	p.A1618S	DNAH11_ENST00000409508.3_Missense_Mutation_p.A1613S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1618	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGTGAAAAAGCTCTCGCTGA	0.403000									Kartagener syndrome				67	157					9.12251e-31	1.11366e-30	0.139131	1	0
PEG10	23089	broad.mit.edu	37	7	94293346	94293346	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:94293346G>A	ENST00000482108.1	+	2	957	c.478G>A	c.(478-480)Gac>Aac	p.D160N	PEG10_ENST00000488574.1_Missense_Mutation_p.D160N	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	160	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGTCTTTGAAGACCCTCAGAG	0.557000													12	353					0	0	0.105934	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													3	40					0	0	0.115264	0	0
LRP1B	53353	broad.mit.edu	37	2	141528521	141528521	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:141528521G>T	ENST00000389484.3	-	34	6526	c.5555C>A	c.(5554-5556)aCa>aAa	p.T1852K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1852	EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTTCAGATGTTGGTAAACA	0.353000										TSP Lung(27;0.18)			13	215					0.00010058	0.000112554	0.093190	1	0
LST3	0	broad.mit.edu	37	12	21205042	21205042	+	Silent	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:21205042A>C	ENST00000381541.3	+	10	1409	c.1344A>C	c.(1342-1344)gtA>gtC	p.V448V	SLCO1B7_ENST00000421593.2_Silent_p.V401V|SLCO1B7_ENST00000554957.1_Silent_p.V448V|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron																							ATAGTCCAGTAAGATCTCATG	0.388000													24	123					0	0	0.076483	0	0
EPRS	2058	broad.mit.edu	37	1	220195728	220195728	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:220195728C>T	ENST00000366923.3	-	9	1345	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	359	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTGAATTTTGCAGCGATAAAG	0.378000													7	406					0	0	0.029380	0	0
MYH8	4626	broad.mit.edu	37	17	10309482	10309482	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:10309482C>G	ENST00000403437.2	-	21	2402	c.2308G>C	c.(2308-2310)Gct>Cct	p.A770P	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	770	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAAGTCCAGCTTTGAAGAAA	0.403000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				48	77					0	0	0.139131	0	0
COL27A1	85301	broad.mit.edu	37	9	116931516	116931516	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116931516A>G	ENST00000356083.3	+	3	2072	c.1681A>G	c.(1681-1683)Aag>Gag	p.K561E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	561	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGACCTGGGAAGGCAGCCAG	0.642000													9	242					0	0	0.047766	0	0
TET2	54790	broad.mit.edu	37	4	106156834	106156834	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:106156834C>G	ENST00000540549.1	+	3	2595	c.1735C>G	c.(1735-1737)Cta>Gta	p.L579V	TET2_ENST00000305737.2_Missense_Mutation_p.L579V|TET2_ENST00000394764.1_Missense_Mutation_p.L579V|TET2_ENST00000380013.4_Missense_Mutation_p.L579V|TET2_ENST00000545826.1_Missense_Mutation_p.L579V|TET2_ENST00000513237.1_Missense_Mutation_p.L600V|TET2_ENST00000413648.2_Missense_Mutation_p.L579V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	579					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAATCCCATCTAAAACGTAA	0.453000			"""Mis N, F"""		MDS								5	152					0	0	0.014758	0	0
TRPM6	140803	broad.mit.edu	37	9	77435280	77435280	+	Silent	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:77435280A>G	ENST00000451710.3	-	9	1311	c.1074T>C	c.(1072-1074)agT>agC	p.S358S	TRPM6_ENST00000449912.2_Silent_p.S353S|TRPM6_ENST00000376871.3_Silent_p.S358S|TRPM6_ENST00000360774.1_Silent_p.S358S|TRPM6_ENST00000376872.3_Silent_p.S358S|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Silent_p.S353S|TRPM6_ENST00000376864.4_Silent_p.S358S			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	358					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTGTTTAAGACTAAAGTTGA	0.413000													35	108					0	0	0.104719	0	0
NEB	4703	broad.mit.edu	37	2	152342397	152342397	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:152342397C>T	ENST00000397345.3	-	182	25657	c.25455G>A	c.(25453-25455)gtG>gtA	p.V8485V	NEB_ENST00000172853.10_Silent_p.V6629V|NEB_ENST00000603639.1_Silent_p.V8485V|NEB_ENST00000409198.1_Silent_p.V6629V|NEB_ENST00000427231.2_Silent_p.V8485V|NEB_ENST00000509223.2_Silent_p.V398V|NEB_ENST00000397336.2_Silent_p.V460V|NEB_ENST00000604864.1_Silent_p.V8485V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6629					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)		CCTTGAAGGACACCTCATCTG	0.458000													67	130					0	0	0.139131	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562000		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)			74	12					0	0	0.139131	0	0
ZNF713	349075	broad.mit.edu	37	7	56006946	56006946	+	Silent	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:56006946A>C	ENST00000429591.2	+	4	578	c.540A>C	c.(538-540)tcA>tcC	p.S180S	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCTGAACTCAAACCTTATGC	0.368000													32	136					0	0	0.173368	0	0
REV3L	5980	broad.mit.edu	37	6	111726682	111726682	+	Silent	SNP	T	T	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:111726682T>G	ENST00000435970.1	-	6	1138	c.322A>C	c.(322-324)Aga>Cga	p.R108R	REV3L_ENST00000368802.3_Silent_p.R186R|REV3L_ENST00000368805.1_Silent_p.R186R|REV3L_ENST00000358835.3_Silent_p.R186R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	186					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTTTCCTTCTTGCTTTTCGG	0.299000								DNA polymerases (catalytic subunits)					7	203					0	0	0.029380	0	0
RHAG	6005	broad.mit.edu	37	6	49604490	49604490	+	Silent	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:49604490C>A	ENST00000371175.4	-	1	62	c.36G>T	c.(34-36)ctG>ctT	p.L12L	RHAG_ENST00000229810.7_Silent_p.L12L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	12					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGGCAATTTCCAGGACTATAG	0.443000													61	140					2.5401e-28	3.06114e-28	0.139131	1	0
RTDR1	27156	broad.mit.edu	37	22	23401832	23401832	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr22:23401832C>T	ENST00000216036.4	-	7	1051	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	285							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCGCTATGGTCATGGGGGAGT	0.657000													59	190					0	0	0.139131	0	0
ZNF618	114991	broad.mit.edu	37	9	116811471	116811471	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116811471G>A	ENST00000288466.7	+	14	1709	c.1610G>A	c.(1609-1611)gGc>gAc	p.G537D	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.G630D	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TCCAAGGCCGGCATGTGCCTT	0.622000													4	223					0	0	0.014758	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													6	404					3.07112e-06	3.47813e-06	0.080935	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597607	136597607	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:136597607C>A	ENST00000531224.1	-	5	1308	c.1056G>T	c.(1054-1056)agG>agT	p.R352S	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R350S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R352S|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R350S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R350S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	352					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGGTATTACCCCTATCAAGCA	0.443000													9	523					0.000673444	0.00073609	0.069234	1	0
C1orf168	199920	broad.mit.edu	37	1	57258301	57258301	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:57258301C>T	ENST00000343433.6	-	2	265	c.185G>A	c.(184-186)cGc>cAc	p.R62H	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	62										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTATGGTGTGCGCTGCTTGTG	0.473000													15	322					0	0	0.132662	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43925953	43925953	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:43925953T>C	ENST00000389420.3	-	3	498	c.499A>G	c.(499-501)Ata>Gta	p.I167V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I167V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	167						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCCTTCATTATAGGTTCTAAG	0.343000													12	147					0	0	0.093190	0	0
SPTAN1	6709	broad.mit.edu	37	9	131337005	131337005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:131337005C>T	ENST00000372739.3	+	4	525	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.R139*|SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.R139*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	139					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGAAGATGCGAGAAAAAGG	0.468000													47	80					0	0	0.139131	0	0
SIRPD	128646	broad.mit.edu	37	20	1517834	1517834	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:1517834G>T	ENST00000381623.3	-	3	1733	c.544C>A	c.(544-546)Ccc>Acc	p.P182T	SIRPD_ENST00000381621.1_Missense_Mutation_p.P183T			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	182						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGCAGCAGGGTTGGACGAAA	0.607000													43	139					3.77016e-25	4.48601e-25	0.131918	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	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								41	66					0	0	0.086207	0	0
MUC1	4582	broad.mit.edu	37	1	155160204	155160204	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:155160204C>T	ENST00000368395.1	-	5	1146	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000457295.2_Missense_Mutation_p.V148I|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000438413.1_Missense_Mutation_p.V113I|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Missense_Mutation_p.V108I|MUC1_ENST00000337604.5_Missense_Mutation_p.V157I|MUC1_ENST00000368398.3_Missense_Mutation_p.V114I|MUC1_ENST00000368392.3_Missense_Mutation_p.V148I|MUC1_ENST00000368390.3_Missense_Mutation_p.V139I|MUC1_ENST00000368393.3_Missense_Mutation_p.V157I|MUC1_ENST00000342482.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1139	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCGCTGACGTCTGAGATC	0.577000			T	IGH@	B-NHL								6	58					0	0	0.038147	0	0
SBF2	81846	broad.mit.edu	37	11	9864268	9864268	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:9864268T>C	ENST00000256190.8	-	25	3297	c.3160A>G	c.(3160-3162)Aca>Gca	p.T1054A	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1054					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CGCCCAATTGTCATTTTCCCT	0.373000													4	111					0	0	0.014758	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904728	180904728	+	Silent	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:180904728G>A	ENST00000367588.4	+	5	1738	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	KIAA1614_ENST00000367587.1_Silent_p.Q182Q	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	561										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGACCCTCCAGGAGCTCCAGG	0.726000													3	32					0	0	0.115264	0	0
ALPK1	80216	broad.mit.edu	37	4	113362097	113362097	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:113362097G>A	ENST00000458497.1	+	15	3842	c.3563G>A	c.(3562-3564)gGa>gAa	p.G1188E	ALPK1_ENST00000504176.2_Missense_Mutation_p.G1110E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G1188E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1188	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATGGAAAAGGACTCATCTAC	0.363000													5	269					0	0	0.014758	0	0
CACNA2D1	781	broad.mit.edu	37	7	81624211	81624211	+	Silent	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:81624211G>A	ENST00000356860.3	-	20	2045	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	CACNA2D1_ENST00000356253.5_Silent_p.F588F	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	588						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCAGAGTTCTGAATGTTTTTT	0.299000													6	112					0	0	0.021553	0	0
GAS2	2620	broad.mit.edu	37	11	22747932	22747932	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:22747932G>A	ENST00000454584.2	+	4	667	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	GAS2_ENST00000278187.3_Missense_Mutation_p.R121Q|GAS2_ENST00000433790.1_Missense_Mutation_p.R121Q	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	121	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TCCTGGTGCCGAGATTTAGGG	0.398000													15	138					0	0	0.119110	0	0
TRIM56	81844	broad.mit.edu	37	7	100732260	100732260	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:100732260C>T	ENST00000306085.6	+	3	1964	c.1667C>T	c.(1666-1668)gCc>gTc	p.A556V		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	556					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCAGCGTGGCCGCCCTGCAG	0.672000													5	185					0	0	0.014758	0	0
ATRX	546	broad.mit.edu	37	X	76890086	76890086	+	Splice_Site	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:76890086T>C	ENST00000373344.5	-	17	5022	c.4809_splice	c.e17+1	p.Q1603_splice	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.Q1565_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1603	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)	AGCTCTTACCTGTAAAGTCTT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						82	23					0	0	0.139131	0	0
CCNG2	901	broad.mit.edu	37	4	78081991	78081991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:78081991A>T	ENST00000316355.5	+	4	750	c.394A>T	c.(394-396)Aaa>Taa	p.K132*	CCNG2_ENST00000509972.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000354403.5_Nonsense_Mutation_p.K132*|CCNG2_ENST00000395640.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000502280.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	132					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGTCAGTGTAAATGTACTGC	0.363000													92	148					0	0	0.139131	0	0
SNX17	9784	broad.mit.edu	37	2	27599364	27599364	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:27599364C>T	ENST00000233575.2	+	14	1498	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	SNX17_ENST00000542478.1_Missense_Mutation_p.R212W|SNX17_ENST00000537606.1_Missense_Mutation_p.R401W|SNX17_ENST00000543024.1_Missense_Mutation_p.R212W	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	426					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCCACCCGGGAGTCTAT	0.572000													77	258					0	0	0.139131	0	0
DNMT3B	1789	broad.mit.edu	37	20	31372610	31372610	+	Missense_Mutation	SNP	C	C	G	rs138276579		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:31372610C>G	ENST00000328111.2	+	4	572	c.251C>G	c.(250-252)aCc>aGc	p.T84S	DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Missense_Mutation_p.T84S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.T96S|DNMT3B_ENST00000375623.4_Missense_Mutation_p.T84S|DNMT3B_ENST00000443239.3_Missense_Mutation_p.T84S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.T84S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.T84S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	84	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTCTGACACCCCAGTCATG	0.527000													3	143					0	0	0.115264	0	0
PTPN18	26469	broad.mit.edu	37	2	131116491	131116491	+	Missense_Mutation	SNP	G	G	A	rs11892325	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:131116491G>A	ENST00000175756.5	+	2	246	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	49	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GTGCTCCACCGTGGCCGGCAG	0.627000													56	136					0	0	0.139131	0	0
CDKN1B	1027	broad.mit.edu	37	12	12871757	12871757	+	Splice_Site	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:12871757A>C	ENST00000228872.4	+	2	1191		c.e2-1		CDKN1B_ENST00000477087.1_Splice_Site|CDKN1B_ENST00000396340.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)						autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCCTGCGCTTAGATTCTTCTA	0.433000													6	295					0	0	0.029380	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072135	34072135	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:34072135C>T	ENST00000254466.6	-	6	2408	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R778Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	794					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGGGGATTCGTGAAGGCTG	0.632000													16	261					0	0	0.175082	0	0
ZNF83	55769	broad.mit.edu	37	19	53122219	53122219	+	Silent	SNP	A	A	G	rs10402820	by1000genomes	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:53122219A>G	ENST00000600714.1	-	4	394	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000601257.1_Silent_p.L38L|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000597161.1_Silent_p.L38L|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000596930.1_Silent_p.L38L|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000544146.1_5'UTR			P51522	ZNF83_HUMAN	zinc finger protein 83	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TAATTCTCCAACATCACATCT	0.468000													3	139					0	0	0.115264	0	0
FMOD	2331	broad.mit.edu	37	1	203316988	203316988	+	Silent	SNP	G	G	A	rs141206727		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:203316988G>A	ENST00000354955.4	-	2	874	c.411C>T	c.(409-411)caC>caT	p.H137H	FMOD_ENST00000464898.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	137					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTGGTTGCCGTGGAGAGCAA	0.557000													5	170					0	0	0.021553	0	0
PTPRR	5801	broad.mit.edu	37	12	71286466	71286466	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:71286466A>G	ENST00000283228.2	-	2	802	c.350T>C	c.(349-351)aTt>aCt	p.I117T		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	117					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACCACCACAATTACATTTGC	0.413000													4	246					0	0	0.150653	0	0
UNC45B	146862	broad.mit.edu	37	17	33482401	33482401	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:33482401C>T	ENST00000268876.5	+	7	823	c.726C>T	c.(724-726)tgC>tgT	p.C242C	UNC45B_ENST00000591048.1_Silent_p.C242C|UNC45B_ENST00000378449.1_Silent_p.C242C|UNC45B_ENST00000433649.1_Silent_p.C242C|UNC45B_ENST00000394570.2_Silent_p.C242C	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	242					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGCTGTCTGCAACCTGCTCC	0.552000													23	200					0	0	0.076483	0	0
PSD	5662	broad.mit.edu	37	10	104173754	104173754	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:104173754A>C	ENST00000020673.5	-	5	1851	c.1325T>G	c.(1324-1326)tTt>tGt	p.F442C	PSD_ENST00000406432.1_Missense_Mutation_p.F442C	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	442	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGCAGCTCAAAGGTGAAGAA	0.652000													10	109					0	0	0.069234	0	0
AIM2	9447	broad.mit.edu	37	1	159035847	159035847	+	Silent	SNP	G	G	A	rs148686373		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:159035847G>A	ENST00000368130.4	-	4	957	c.669C>T	c.(667-669)agC>agT	p.S223S	AIM2_ENST00000481829.1_Intron	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	223	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CACGTGAGGCGCTATTTACCT	0.368000													32	311					0	0	0.153744	0	0
HEATR1	55127	broad.mit.edu	37	1	236724539	236724539	+	Silent	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:236724539T>C	ENST00000366582.3	-	33	4746	c.4632A>G	c.(4630-4632)aaA>aaG	p.K1544K	HEATR1_ENST00000366581.2_Silent_p.K1463K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1544					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTCAAGGCCTTTTAAAATCT	0.323000													3	210					0	0	0.150653	0	0
KANK4	163782	broad.mit.edu	37	1	62739569	62739569	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:62739569C>T	ENST00000371153.4	-	3	1585	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	403										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGTCTTTGGCGTTCTCTTGG	0.517000													5	325					0	0	0.021553	0	0
ZDHHC11	79844	broad.mit.edu	37	5	850710	850710	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:850710G>A	ENST00000283441.8	-	1	391	c.8C>T	c.(7-9)aCc>aTc	p.T3I	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.T3I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	3						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCCGGAGCGGGTGTCCATCTG	0.617000													5	142					0	0	0.014758	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													3	197					0	0	0.115264	0	0
OR1S1	219959	broad.mit.edu	37	11	57982589	57982589	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:57982589A>T	ENST00000309433.6	+	1	373	c.373A>T	c.(373-375)Aat>Tat	p.N125Y		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CGTCATTGACAATTTGCTCTT	0.453000													171	246					0	0	0.139131	0	0
GOLGA8DP	0	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs140467724	by1000genomes	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147																											CCCATCTGGTTTTTGAGTTTG	0.547000													6	455					0	0	0.038147	0	0
MYO3A	53904	broad.mit.edu	37	10	26243813	26243813	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:26243813A>G	ENST00000265944.5	+	4	345	c.179A>G	c.(178-180)gAa>gGa	p.E60G	MYO3A_ENST00000543632.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376301.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376302.1_Missense_Mutation_p.E60G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	60	Protein kinase.				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						GATATTGACGAAGAGATTGAA	0.318000													18	260					0	0	0.049695	0	0
SMCO4	56935	broad.mit.edu	37	11	93212240	93212240	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:93212240G>A	ENST00000298966.2	-	3	501	c.116C>T	c.(115-117)gCc>gTc	p.A39V	SMCO4_ENST00000525141.1_Missense_Mutation_p.A39V|SMCO4_ENST00000527149.1_Missense_Mutation_p.A39V	NM_020179.2	NP_064564.1			single-pass membrane protein with coiled-coil domains 4																		CACGACCACGGCCAGCGTGGG	0.652000													10	92					0	0	0.069234	0	0
C2orf62	375307	broad.mit.edu	37	2	219232561	219232561	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:219232561C>T	ENST00000289388.3	+	10	1067	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	346										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTCACCTTCGCCGCCGAGT	0.701000													6	53					0	0	0.021553	0	0
SNHG14	0	broad.mit.edu	37	15	25320979	25320979	+	RNA	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr15:25320979A>G	ENST00000549804.2	+	0	1075																											CATGTTTGGCATGGTCTCCTT	0.473000													15	15					0	0	0.119110	0	0
MGAT4A	11320	broad.mit.edu	37	2	99279632	99279632	+	Silent	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:99279632G>A	ENST00000393487.1	-	5	727	c.414C>T	c.(412-414)gtC>gtT	p.V138V	MGAT4A_ENST00000414521.2_Silent_p.V10V|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000264968.2_Silent_p.V138V|MGAT4A_ENST00000409391.1_Silent_p.V138V	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	138					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GAATGCCCATGACTATTGAAA	0.323000													6	469					0	0	0.021553	0	0
ZNF99	7652	broad.mit.edu	37	19	22941101	22941101	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:22941101T>C	ENST00000397104.3	-	5	1336	c.1337A>G	c.(1336-1338)tAc>tGc	p.Y446C	ZNF99_ENST00000596209.1_Missense_Mutation_p.Y537C					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGTAGGGTTTCTT	0.343000													5	275					0	0	0.029380	0	0
RMI1	80010	broad.mit.edu	37	9	86616940	86616940	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:86616940C>G	ENST00000325875.3	+	3	1371	c.1039C>G	c.(1039-1041)Cga>Gga	p.R347G		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	347					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAATGCCGATCGAAGTATAGA	0.343000													16	100					0	0	0.132662	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	60					0	0	0.021553	0	0
COL1A2	1278	broad.mit.edu	37	7	94033881	94033881	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:94033881C>T	ENST00000297268.6	+	7	764	c.293C>T	c.(292-294)cCt>cTt	p.P98L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	98					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTAATGGGACCTAGAGGCCCA	0.443000										HNSCC(75;0.22)			4	163					0	0	0.150653	0	0
RNASEL	6041	broad.mit.edu	37	1	182554707	182554707	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:182554707C>T	ENST00000367559.3	-	2	1488	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	RNASEL_ENST00000444138.1_Missense_Mutation_p.R412Q|RNASEL_ENST00000539397.1_Missense_Mutation_p.R412Q	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	412	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ACTGTTCTCTCGGCTGCTTTG	0.532000													14	175					0	0	0.146539	0	0
MCCC2	64087	broad.mit.edu	37	5	70944989	70944989	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:70944989G>A	ENST00000340941.6	+	14	1411	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	MCCC2_ENST00000323375.8_Missense_Mutation_p.A390T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	428	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGTGGCCGCTGTGGCCTG	0.512000													5	152					0	0	0.014758	0	0
CACNA1B	774	broad.mit.edu	37	9	140850187	140850187	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:140850187C>T	ENST00000371372.1	+	8	1253	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R370C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R370C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R370C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R370C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	370					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGAGAACCGCCGCGCCTTCCT	0.642000													10	17					0	0	0.069234	0	0
ZNF733P	0	broad.mit.edu	37	7	62758650	62758650	+	RNA	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:62758650A>G	ENST00000331425.6	-	0	227					NR_003952.1																						TCACCCAGGGAGACCAAGTTT	0.358000													5	166					0	0	0.021553	0	0
PLCE1	51196	broad.mit.edu	37	10	95790842	95790842	+	Silent	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:95790842T>C	ENST00000260766.3	+	2	673	c.39T>C	c.(37-39)ccT>ccC	p.P13P	PLCE1_ENST00000371380.2_Silent_p.P13P	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	13					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTCTCATACCTGTGACTCAGA	0.418000													4	197					0	0	0.014758	0	0
AMY2B	280	broad.mit.edu	37	1	104115689	104115689	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:104115689G>A	ENST00000361355.4	+	5	936	c.320G>A	c.(319-321)cGt>cAt	p.R107H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	107					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTCTAGGTTCGTATTTATGTG	0.368000													146	793					0	0	0.139131	0	0
KCNC3	3748	broad.mit.edu	37	19	50826645	50826645	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:50826645A>G	ENST00000376959.2	-	2	1728	c.1565T>C	c.(1564-1566)cTg>cCg	p.L522P	KCNC3_ENST00000477616.1_Missense_Mutation_p.L522P|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	522					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CAGGGCACACAGCGCCCCGAC	0.602000													3	74					0	0	0.115264	0	0
CCDC158	339965	broad.mit.edu	37	4	77244544	77244544	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:77244544A>G	ENST00000388914.3	-	23	3328	c.3176T>C	c.(3175-3177)aTa>aCa	p.I1059T		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1059										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTGTTTCTATTGGCGGAGA	0.353000													35	343					0	0	0.173368	0	0
OAF	220323	broad.mit.edu	37	11	120097624	120097624	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:120097624C>G	ENST00000328965.4	+	3	979	c.466C>G	c.(466-468)Ccc>Gcc	p.P156A	OAF_ENST00000531220.1_Missense_Mutation_p.P40A	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	156										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGCTGAGCCCCCATCTCCA	0.642000													54	75					0	0	0.139131	0	0
NTSR2	23620	broad.mit.edu	37	2	11798782	11798782	+	Silent	SNP	A	A	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:11798782A>T	ENST00000306928.5	-	4	1090	c.1056T>A	c.(1054-1056)gcT>gcA	p.A352A		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	352					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GAGGAGTCACAGCTGAGCTGA	0.532000													4	174					0	0	0.014758	0	0
C12orf65	91574	broad.mit.edu	37	12	123741402	123741402	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:123741402C>T	ENST00000253233.1	+	3	969	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	C12orf65_ENST00000429587.2_Missense_Mutation_p.R109W|RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.R109W	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	109						mitochondrion	translation release factor activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		AAAGCTAGCTCGGAAAATCCT	0.368000													6	100					0	0	0.021553	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	43					0	0	0.115264	0	0
OR13C2	392376	broad.mit.edu	37	9	107367614	107367614	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:107367614C>A	ENST00000542196.1	-	1	337	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACATCTGCACTGCACAGCCA	0.522000													21	232					2.79863e-10	3.28839e-10	0.099896	1	0
VSIG1	340547	broad.mit.edu	37	X	107310285	107310285	+	Silent	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:107310285T>C	ENST00000415430.3	+	4	602	c.441T>C	c.(439-441)agT>agC	p.S147S	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Silent_p.S111S	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	111	Ig-like C2-type 2.		V -> I (in dbSNP:rs17254305).			integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGCAGACAGTGGAATTTACA	0.463000													4	166					0	0	0.150653	0	0
CUBN	8029	broad.mit.edu	37	10	16883005	16883005	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:16883005C>T	ENST00000377833.4	-	61	9770	c.9705G>A	c.(9703-9705)acG>acA	p.T3235T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3235	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCACAAAACGTTCCAGCCA	0.363000													16	99					0	0	0.146539	0	0
RP11-206L10.2	0	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	T	-			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:700532delT	ENST00000428504.1	-	0	1021					NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453													4	6	---	---	---	---					
SLC8A3	6547	broad.mit.edu	37	14	70633381	70633382	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr14:70633381_70633382insC	ENST00000381269.2	-	2	2511_2512	c.1758_1759insG	c.(1756-1761)gatggafs	p.DG586fs	SLC8A3_ENST00000356921.2_Frame_Shift_Ins_p.DG586fs|SLC8A3_ENST00000534137.1_Frame_Shift_Ins_p.DG586fs|SLC8A3_ENST00000528359.1_Frame_Shift_Ins_p.DG586fs|SLC8A3_ENST00000357887.3_Frame_Shift_Ins_p.DG586fs	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	586	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGAATTCCAACTCCCCATATG	0.505													14	120	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													4	7	---	---	---	---					
