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
MSL3P1	151507	broad.mit.edu	37	2	234775676	234775676	+	RNA	SNP	C	C	T			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:234775676C>T	ENST00000438684.1	-	0	438					NR_024322.1																						GCTGAAAAGGCTGCACTGATA	0.438000													32	44					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593619	55593619	+	Missense_Mutation	SNP	A	A	G	rs121913510		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr4:55593619A>G	ENST00000288135.5	+	11	1782	c.1685A>G	c.(1684-1686)gAg>gGg	p.E562G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	562					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.K558_E562del(10)|p.V560_L576del(4)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.V555_I571del(3)|p.V555_P573del(3)|p.Q556_L576del(2)|p.W557_P573>S(2)|p.K558_N564del(2)|p.W557_Q575del(2)|p.V555_E562del(2)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.V555_I563del(1)|p.E561_P577del(1)|p.E562_P573del(1)|p.K558_G565del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.V555_Y570del(1)|p.V559_E562del(1)|p.M552_T574>TESA(1)|p.K558_G565>R(1)|p.V559_I571del(1)|p.Q556_D572>PS(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.E562V(1)|p.Q556_D572del(1)|p.K558_L576>NV(1)|p.V559_P573>A(1)|p.V560_I571del(1)|p.W557_I571del(1)|p.V559_L576del(1)|p.E554_N564del(1)|p.K558_D572del(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.M552_D572del(1)|p.Q556_T574del(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.E554_E562del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGTTGAGGAGATAAATGGA	0.378000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				33	65					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17204166	17204166	+	Splice_Site	SNP	T	T	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr10:17204166T>A	ENST00000377799.3	-	4	369	c.322A>T	c.(322-324)Aga>Tga	p.R108*	TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000457442.2_Splice_Site_p.R49*	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	108					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						AGTTTTTACCTTGGGAGAATA	0.368000													6	199					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43128465	43128465	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:43128465A>G	ENST00000230419.4	+	20	3280	c.3059A>G	c.(3058-3060)cAg>cGg	p.Q1020R	PTK7_ENST00000349241.2_Missense_Mutation_p.Q890R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q964R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q980R|PTK7_ENST00000481273.1_Missense_Mutation_p.Q1028R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	1020	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACAGATTTGCAGGCTGGGAAG	0.562000													4	115					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	169053869	169053869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:169053869G>A	ENST00000354536.5	+	11	1499	c.1279G>A	c.(1279-1281)Gcg>Acg	p.A427T	SMOC2_ENST00000356284.2_Missense_Mutation_p.A416T	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	416					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCTGGGCGTGGCGAAAGAGGA	0.532000													7	60					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12291284	12291284	+	Silent	SNP	T	T	C			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:12291284T>C	ENST00000261349.4	-	16	3658	c.3582A>G	c.(3580-3582)gtA>gtG	p.V1194V	LRP6_ENST00000543091.1_Silent_p.V1194V|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1194	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAGCTCCTTTACTGCATGAA	0.358000													87	102					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98575905	98575905	+	Silent	SNP	T	T	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr7:98575905T>A	ENST00000359863.4	+	56	8645	c.8436T>A	c.(8434-8436)gcT>gcA	p.A2812A	TRRAP_ENST00000446306.3_Silent_p.A2794A|TRRAP_ENST00000355540.3_Silent_p.A2794A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2812	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCCCCTGCTATTTTCCCTG	0.413000													18	81					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152621853	152621853	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:152621853T>C	ENST00000367255.5	-	93	18206	c.17605A>G	c.(17605-17607)Acc>Gcc	p.T5869A	SYNE1_ENST00000448038.1_Missense_Mutation_p.T5798A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5798A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T393A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5869A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T5481A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5869					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCACTGTTGGTTCCCTCCTCC	0.527000										HNSCC(10;0.0054)			4	23					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55047064	55047064	+	Silent	SNP	C	C	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr19:55047064C>A	ENST00000335056.3	+	4	647	c.609C>A	c.(607-609)cgC>cgA	p.R203R	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GTCACTCCCGCTATGAGTGGT	0.562000													8	76					0.000442599	0.000463676	1	1	0
ACRBP	84519	broad.mit.edu	37	12	6749667	6749667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:6749667G>A	ENST00000229243.2	-	7	1192	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Nonsense_Mutation_p.R334*	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	367						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GACATGTGTCGCCGCCCAAGG	0.632000													10	18					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48621040	48621040	+	Silent	SNP	A	A	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr3:48621040A>G	ENST00000328333.8	-	40	4457	c.4350T>C	c.(4348-4350)tcT>tcC	p.S1450S	COL7A1_ENST00000454817.1_Silent_p.S1450S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1450	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCATCCTCAGAGTCACCCT	0.627000													18	28					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39131835	39131835	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr8:39131835A>G	ENST00000379907.4	+	21	2333	c.2206A>G	c.(2206-2208)Agc>Ggc	p.S736G	ADAM32_ENST00000524303.1_3'UTR|ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Missense_Mutation_p.S637G	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	736					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTTTAGATCCAGCTCAGAAGG	0.313000													28	51					0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603631	37603631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr22:37603631C>T	ENST00000328544.3	-	2	745	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	SSTR3_ENST00000402501.1_Missense_Mutation_p.R71Q	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	71					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GGCCGTGTGCCGCAGGACCAC	0.647000													15	79					0	0	1	0	0
CKMT1B	1159	broad.mit.edu	37	15	43890406	43890406	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr15:43890406C>G	ENST00000300283.6	+	8	1284	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	CKMT1B_ENST00000441322.1_Missense_Mutation_p.Q298E	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	298	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GAGACTTATCCAAGAACGTGG	0.483000													37	204					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	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	NM_001282387.1	NP_001269316.1	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								31	68					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and 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; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			20	10					0	0	1	0	0
CKMT1B	1159	broad.mit.edu	37	15	43890426	43890426	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr15:43890426C>G	ENST00000300283.6	+	8	1304	c.912C>G	c.(910-912)ttC>ttG	p.F304L	CKMT1B_ENST00000441322.1_Missense_Mutation_p.F304L	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	304	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GCTGGGAGTTCATGTGGAATG	0.488000													34	195					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043515	56043515	+	Missense_Mutation	SNP	G	G	A	rs140678740		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr11:56043515G>A	ENST00000313033.2	+	1	487	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCTTATGATCGCTATGTAGCC	0.413000													71	129					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1053504	1053504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr19:1053504G>A	ENST00000263094.6	+	24	3628	c.3397G>A	c.(3397-3399)Ggg>Agg	p.G1133R	ABCA7_ENST00000435683.2_Missense_Mutation_p.G995R|ABCA7_ENST00000433129.1_Missense_Mutation_p.G1133R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1133					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGGCTACGGGATCTCCGA	0.647000													5	7					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76028379	76028379	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr5:76028379C>A	ENST00000319211.4	+	2	594	c.329C>A	c.(328-330)aCc>aAc	p.T110N		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	110					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCTGTGTACACCGGAGTGTTT	0.493000													6	163					0.00198382	0.00202995	1	1	0
DHX16	8449	broad.mit.edu	37	6	30624869	30624869	+	Splice_Site	SNP	C	C	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:30624869C>A	ENST00000376442.3	-	13	2203	c.2008G>T	c.(2008-2010)Gtg>Ttg	p.V670L	DHX16_ENST00000376437.5_Splice_Site_p.V189L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	670	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GCCACAACCACCTGAGTGATA	0.483000													3	47					1	1	1	1	0
NBEA	26960	broad.mit.edu	37	13	35683539	35683539	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr13:35683539T>G	ENST00000400445.3	+	12	2327	c.1793T>G	c.(1792-1794)aTt>aGt	p.I598S	NBEA_ENST00000540320.1_Missense_Mutation_p.I598S|NBEA_ENST00000379939.2_Missense_Mutation_p.I598S|NBEA_ENST00000310336.4_Missense_Mutation_p.I598S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	598						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGTGATCACATTTTATTTAAC	0.348000													3	69					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045435	53045435	+	Silent	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:53045435G>A	ENST00000309680.3	-	1	513	c.492C>T	c.(490-492)aaC>aaT	p.N164N		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	164	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAACTTTCACGTTGAGAGGCT	0.527000													17	94					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150934619	150934619	+	Missense_Mutation	SNP	G	G	A	rs148408413		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr1:150934619G>A	ENST00000271640.5	+	17	3333	c.3143G>A	c.(3142-3144)cGa>cAa	p.R1048Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.R1048Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1048	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTGACGACCGAAACAAGATG	0.443000													4	220					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114400045	114400045	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:114400045G>A	ENST00000545145.2	-	2	289	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	RBM19_ENST00000261741.5_Missense_Mutation_p.R71W|RBM19_ENST00000392561.3_Missense_Mutation_p.R71W	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	71	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ACTGTGATCCGGGATGTGTCG	0.493000													13	97					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179426430	179426430	+	Silent	SNP	A	A	T			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:179426430A>T	ENST00000589042.1	-	326	84653	c.84429T>A	c.(84427-84429)tcT>tcA	p.S28143S	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S19270S|TTN_ENST00000591111.1_Silent_p.S26502S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.S25575S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S19203S|TTN_ENST00000460472.2_Silent_p.S19078S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26502	Fibronectin type-III 105.						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)			CAACAGCTGAAGATTCACTGT	0.458000													16	38					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100484040	100484040	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr7:100484040C>T	ENST00000388793.4	+	13	1848	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	SRRT_ENST00000347433.4_Missense_Mutation_p.T544M|SRRT_ENST00000457580.2_Missense_Mutation_p.T544M|SRRT_ENST00000432932.1_Missense_Mutation_p.T543M	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	544					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.T544M(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAACCAGGGACGCCTCCCCTG	0.582000													5	13					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228476440	228476440	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr1:228476440G>A	ENST00000570156.2	+	43	11551	c.11477G>A	c.(11476-11478)cGt>cAt	p.R3826H	OBSCN_ENST00000359599.6_Missense_Mutation_p.R2244H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R516H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R516H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3397H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3397H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2863	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGAAGGGGCGTGAGAGCCTC	0.622000													32	73					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136389573	136389573	+	Splice_Site	SNP	T	T	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:136389573T>A	ENST00000264160.4	+	9	1068		c.e9+2		R3HDM1_ENST00000329971.3_Splice_Site|R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000410054.1_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TACAAGAATGTAAGTGTCAAG	0.323000													17	63					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196547347	196547347	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr3:196547347A>G	ENST00000327134.3	+	13	1581	c.1259A>G	c.(1258-1260)tAt>tGt	p.Y420C		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	420	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CGGAAAGCTTATGGCCCTAAA	0.498000													17	86					0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122004453	122004453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:122004453C>T	ENST00000263707.5	-	6	695	c.598G>A	c.(598-600)Gag>Aag	p.E200K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	200					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.E200K(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCCCCATTCTCGTTCTGCTTA	0.587000													43	61					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:108004005C>T	ENST00000280758.5	+	5	2210	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	BTBD11_ENST00000420571.2_Missense_Mutation_p.A561V|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.A98V|BTBD11_ENST00000490090.2_Missense_Mutation_p.A561V	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	561						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCTGGATGCGGTGGCCATC	0.582000											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	135					0	0	1	0	0
SAA2	6289	broad.mit.edu	37	11	18266989	18266989	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr11:18266989T>C	ENST00000526900.1	-	4	487	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.K102E|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Intron					serum amyloid A2									p.K102E(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTGCCCCATTTATTGGCAGCC	0.572000													3	82					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119112379	119112379	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr3:119112379A>G	ENST00000264245.4	+	8	1479	c.947A>G	c.(946-948)gAc>gGc	p.D316G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	316					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCTGGATCAGACTCCAAATCA	0.383000													39	60					0	0	1	0	0
RP11-13J8.1	0	broad.mit.edu	37	2	201967196	201967197	+	RNA	INS	-	-	A	rs77338628		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:201967196_201967197insA	ENST00000448256.1	+	0	606_607																											gactctgtctcaaaaaaaaaaa	0.455													4	4	---	---	---	---					
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	RNA	DEL	GAG	GAG	-			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547													2	4	---	---	---	---					
PTGES	9536	broad.mit.edu	37	9	132501992	132501992	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr9:132501992delC	ENST00000340607.4	-	3	391	c.357delG	c.(355-357)gggfs	p.G119fs	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	119					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CCCGCAGCTTCCCCAGGTAGG	0.647													2	4	---	---	---	---					
ANGPTL5	253935	broad.mit.edu	37	11	101762018	101762020	+	In_Frame_Del	DEL	AAT	AAT	-	rs143415747	byFrequency	TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr11:101762018_101762020delAAT	ENST00000334289.3	-	9	1752_1754	c.1157_1159delATT	c.(1156-1161)tatttt>ttt	p.Y386del		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	386					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GATTATTTAAAATATGGATTGTA	0.276													23	45	---	---	---	---					
TTBK2	146057	broad.mit.edu	37	15	43038236	43038244	+	In_Frame_Del	DEL	AGACGTGCG	AGACGTGCG	-			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr15:43038236_43038244delAGACGTGCG	ENST00000267890.6	-	15	3592_3600	c.3484_3492delCGCACGTCT	c.(3484-3492)cgcacgtctdel	p.RTS1162del		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1162	Ser-rich.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTGAGGAACTAGACGTGCGAGGCAAGGAT	0.574													9	86	---	---	---	---					
AXIN2	8313	broad.mit.edu	37	17	63533510	63533510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr17:63533510delC	ENST00000307078.5	-	6	1957	c.1644delG	c.(1642-1644)gagfs	p.E548fs	AXIN2_ENST00000375702.5_Frame_Shift_Del_p.E548fs	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	548					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AGCAGTAATACTCGCTGCCCC	0.617									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				52	101	---	---	---	---					
ETFB	2109	broad.mit.edu	37	19	51853591	51853591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr19:51853591delA	ENST00000354232.4	-	3	3170	c.703delT	c.(703-705)tggfs	p.W235fs	CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000309244.4_Frame_Shift_Del_p.W144fs	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	144					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ACCTGTGGCCAGTCAAGAAAT	0.527													15	12	---	---	---	---					
