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
TGOLN2	10618	broad.mit.edu	37	2	85554507	85554507	+	Silent	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr2:85554507C>T	ENST00000377386.3	-	2	810	c.348G>A	c.(346-348)gcG>gcA	p.A116A	TGOLN2_ENST00000409232.3_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A			O43493	TGON2_HUMAN	trans-golgi network protein 2	116	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TTGTGGTCTGCGCCTCCGAAC	0.572000													6	699					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102442099	102442099	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr14:102442099A>G	ENST00000360184.4	+	2	471	c.307A>G	c.(307-309)Atc>Gtc	p.I103V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	103	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCCTATAACATCAACATAGA	0.279000													28	45					0	0	1	0	0
JTB	10899	broad.mit.edu	37	1	153947268	153947268	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:153947268C>T	ENST00000271843.4	-	5	763	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	JTB_ENST00000356648.1_Missense_Mutation_p.E81K|JTB_ENST00000368589.1_Missense_Mutation_p.E81K	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	110					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACAGCCCCTTCGAACTTCCAA	0.502000													21	47					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655803	12655803	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr17:12655803C>T	ENST00000425538.1	+	10	1398	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	MYOCD_ENST00000395988.1_Missense_Mutation_p.R304W|MYOCD_ENST00000343344.4_Missense_Mutation_p.R400W	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	400	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTCATGGACCGGCTTCGACC	0.507000													6	38					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48046774	48046774	+	Silent	SNP	C	C	T	rs150352113	by1000genomes	TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr7:48046774C>T	ENST00000453192.2	-	6	687	c.444G>A	c.(442-444)ccG>ccA	p.P148P	SUN3_ENST00000395572.2_Silent_p.P160P|SUN3_ENST00000412142.1_Silent_p.P60P|SUN3_ENST00000297325.4_Silent_p.P160P			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	160						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGTGTGGTCCGGGTCCTCCA	0.552000													16	22					0	0	1	0	0
FAM102B	284611	broad.mit.edu	37	1	109170825	109170825	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:109170825T>G	ENST00000370035.3	+	7	933	c.593T>G	c.(592-594)cTt>cGt	p.L198R	FAM102B_ENST00000405454.1_Missense_Mutation_p.L198R	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	198										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CCAGACGAACTTGGTGCCTGT	0.378000													30	41					0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1271955	1271955	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr16:1271955G>A	ENST00000234798.4	-	6	803	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	267	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GTGATGTGGCGGCGGATCCAG	0.662000													11	16					0	0	1	0	0
TFAP2E	339488	broad.mit.edu	37	1	36055549	36055549	+	Silent	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:36055549G>A	ENST00000373235.3	+	5	1012	c.804G>A	c.(802-804)ggG>ggA	p.G268G		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	268						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCAAAAATGGGGGCCGGTGTT	0.547000													7	51					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14276232	14276232	+	RNA	SNP	T	T	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr11:14276232T>C	ENST00000310358.7	+	0	1584							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GTGCAAGACCTGATTCCCTGG	0.587000													3	39					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065162	63065162	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr11:63065162G>A	ENST00000544661.1	+	5	756	c.328G>A	c.(328-330)Gcg>Acg	p.A110T	SLC22A10_ENST00000535888.1_Missense_Mutation_p.A55T|SLC22A10_ENST00000332793.6_Missense_Mutation_p.A265T|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	265						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCACGTGGTGGCGTCTGTACC	0.453000													40	75					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71193480	71193480	+	Silent	SNP	G	G	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr17:71193480G>T	ENST00000299886.4	+	4	938	c.858G>T	c.(856-858)ctG>ctT	p.L286L		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	286					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			ATCCAGCCCTGCCATGTGGCT	0.512000													24	105					1.36565e-18	1.56904e-18	1	1	0
ANKRD52	283373	broad.mit.edu	37	12	56638934	56638934	+	Silent	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:56638934C>T	ENST00000267116.7	-	22	2566	c.2445G>A	c.(2443-2445)ccG>ccA	p.P815P		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	815							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGTACGAAAACGGGCTGTGTT	0.522000													6	141					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250534	18250534	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr10:18250534C>A	ENST00000377369.2	+	3	559	c.286C>A	c.(286-288)Cta>Ata	p.L96I	SLC39A12_ENST00000377374.4_Missense_Mutation_p.L96I|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L96I	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	96					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGCACTATTACTAATAGCTGG	0.373000													36	61					1.04594e-18	1.22784e-18	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139190874	139190874	+	Silent	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr8:139190874C>T	ENST00000395297.1	-	10	1103	c.933G>A	c.(931-933)acG>acA	p.T311T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	311										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCATGTGGGACGTGAGCCAGG	0.527000										HNSCC(54;0.14)			13	37					0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220038176	220038176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr2:220038176G>A	ENST00000409789.1	-	8	1013	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	CNPPD1_ENST00000360507.5_Nonsense_Mutation_p.Q196*			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	196					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CACCGTCCCTGCTGCTCAGCC	0.627000													14	29					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	113965773	113965773	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chrX:113965773G>A	ENST00000276198.1	+	4	834	c.106G>A	c.(106-108)Gac>Aac	p.D36N	HTR2C_ENST00000371951.1_Missense_Mutation_p.D36N|HTR2C_ENST00000371950.3_Missense_Mutation_p.D36N	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	36					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TATAGTAACTGACATTTTCAA	0.398000													4	81					0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17089971	17089971	+	Silent	SNP	A	A	G			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr8:17089971A>G	ENST00000361272.4	-	6	992	c.694T>C	c.(694-696)Ttg>Ctg	p.L232L	CNOT7_ENST00000523917.1_Silent_p.L232L	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	232					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CCTGTGAGCAATGAATCAGAT	0.403000													42	54					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43622119	43622119	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr10:43622119G>T	ENST00000355710.3	+	19	3368	c.3136G>T	c.(3136-3138)Gcc>Tcc	p.A1046S	RET_ENST00000340058.5_Missense_Mutation_p.A1046S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1046					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGTAATAATGCCCCCCTCCC	0.527000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				36	55					6.29468e-14	7.08152e-14	1	1	0
BMPR2	659	broad.mit.edu	37	2	203379700	203379700	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr2:203379700G>T	ENST00000374580.4	+	5	1158	c.619G>T	c.(619-621)Gag>Tag	p.E207*	BMPR2_ENST00000374574.2_Nonsense_Mutation_p.E207*	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	207	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GAAACTGTTGGAGGTAAGTTT	0.388000													3	39					0.150653	0.150653	1	1	0
ZNF337	26152	broad.mit.edu	37	20	25657357	25657357	+	Silent	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr20:25657357G>A	ENST00000376436.1	-	4	1106	c.567C>T	c.(565-567)ttC>ttT	p.F189F	ZNF337_ENST00000538750.1_Silent_p.F157F|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F189F					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTCCGGCTGAAGTCTTGCC	0.433000													5	219					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203379699	203379699	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr2:203379699G>T	ENST00000374580.4	+	5	1157	c.618G>T	c.(616-618)ttG>ttT	p.L206F	BMPR2_ENST00000374574.2_Missense_Mutation_p.L206F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	206	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGAAACTGTTGGAGGTAAGTT	0.393000													3	41					0.150653	0.150653	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20563466	20563466	+	Splice_Site	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr16:20563466C>T	ENST00000329697.6	-	6	1062	c.894_splice	c.e6+1	p.K298_splice	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Splice_Site_p.K298_splice|ACSM2B_ENST00000565232.1_Splice_Site_p.K298_splice|ACSM2B_ENST00000565322.1_Splice_Site_p.K219_splice	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	298					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTCTCTTACCTTTAGAATAA	0.393000													16	151					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	113965814	113965814	+	Silent	SNP	A	A	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chrX:113965814A>C	ENST00000276198.1	+	4	875	c.147A>C	c.(145-147)ccA>ccC	p.P49P	HTR2C_ENST00000371951.1_Silent_p.P49P|HTR2C_ENST00000371950.3_Silent_p.P49P	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	49					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TCAAATTCCCAGACGGGGTAC	0.433000													8	73					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39119724	39119724	+	Silent	SNP	A	A	G			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr5:39119724A>G	ENST00000351578.6	-	14	2203	c.2013T>C	c.(2011-2013)aaT>aaC	p.N671N	FYB_ENST00000512982.1_Silent_p.N717N|FYB_ENST00000515010.1_Silent_p.N671N|FYB_ENST00000505428.1_Silent_p.N717N|FYB_ENST00000540520.1_Silent_p.N727N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	671					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTTTTCCAACATTAGTTCCTT	0.308000													3	3					0	0	1	0	0
CS	1431	broad.mit.edu	37	12	56667436	56667436	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:56667436A>C	ENST00000548567.1	-	11	1437	c.967T>G	c.(967-969)Tta>Gta	p.L323V	CS_ENST00000542324.2_Missense_Mutation_p.L376V|CS_ENST00000351328.3_Missense_Mutation_p.L389V			O75390	CISY_HUMAN	citrate synthase	389					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCCTGCTCTAAGAGGACATTG	0.488000													4	66					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436082	56436082	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr8:56436082G>A	ENST00000327381.5	+	3	1349	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	417						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTCTGGATCGTCCACTGTGA	0.483000													67	135					0	0	1	0	0
IER5	51278	broad.mit.edu	37	1	181058365	181058365	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:181058365C>G	ENST00000367577.4	+	1	728	c.327C>G	c.(325-327)gaC>gaG	p.D109E		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	109										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CCGTCTCAGACGCGCCGCGGG	0.761000													4	13					0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27151801	27151801	+	Silent	SNP	C	C	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr8:27151801C>A	ENST00000305364.4	-	3	641	c.558G>T	c.(556-558)cgG>cgT	p.R186R	TRIM35_ENST00000521253.1_Silent_p.R154R	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	186					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCTGCCGGATCCGGCCTTCCA	0.562000													3	20					0.004672	0.00494682	1	1	0
LRRC8B	23507	broad.mit.edu	37	1	90058579	90058579	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:90058579C>A	ENST00000330947.2	+	6	2749	c.2389C>A	c.(2389-2391)Cag>Aag	p.Q797K	LRRC8B_ENST00000439853.1_Missense_Mutation_p.Q797K|LRRC8B_ENST00000358200.4_Missense_Mutation_p.Q797K|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	797						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGAACGTTTACAGACGTGCTT	0.433000													36	64					6.04917e-29	7.25901e-29	1	1	0
HIST1H4B	8366	broad.mit.edu	37	6	26027375	26027375	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr6:26027375G>A	ENST00000377364.3	-	1	105	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	36					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						GCAAGGCGCCGAATGGCCGGT	0.552000													4	56					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14798210	14798210	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:14798210A>C	ENST00000261170.3	-	16	1886	c.1750T>G	c.(1750-1752)Ttc>Gtc	p.F584V		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	584	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CAATCCATGAATGTGCCATCA	0.333000													34	78					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17648120	17648120	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr6:17648120G>A	ENST00000262077.2	-	13	1549	c.1550C>T	c.(1549-1551)cCg>cTg	p.P517L	NUP153_ENST00000537253.1_Missense_Mutation_p.P548L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	517					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGTGCTGCTCGGAGAGGTCAT	0.348000													5	106					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880923	200880923	+	Silent	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:200880923G>A	ENST00000367342.4	+	9	1757	c.1557G>A	c.(1555-1557)gcG>gcA	p.A519A	C1orf106_ENST00000413687.2_Silent_p.A434A	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	519										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						ATTTCCCGGCGGGGCGGTACG	0.731000													5	15					0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27234319	27234319	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:27234319C>T	ENST00000429849.2	-	2	628	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	200										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAAGGAGTGTCATCCTTCTCT	0.562000													11	74					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183933081	183933081	+	Silent	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:183933081C>T	ENST00000361927.4	-	6	1277	c.906G>A	c.(904-906)ctG>ctA	p.L302L	COLGALT2_ENST00000367520.3_Silent_p.L39L|COLGALT2_ENST00000546159.1_Silent_p.L302L	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		TGTCTTCCTGCAGTGTCTGAT	0.547000													3	46					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873358	173873358	+	Silent	SNP	C	C	T	rs144094710		TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr4:173873358C>T	ENST00000506823.1	+	10	1977	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	GALNTL6_ENST00000508122.1_Silent_p.D423D	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	440						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGGCCTGGGACGTGCCTAAAT	0.597000													9	8					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726259	12726259	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:12726259G>A	ENST00000376221.1	+	4	737	c.737G>A	c.(736-738)cGg>cAg	p.R246Q		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	246						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTACTTTCCCGGAAGTTCATG	0.522000													58	104					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298274	107298274	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr9:107298274T>A	ENST00000374781.2	-	1	863	c.821A>T	c.(820-822)cAc>cTc	p.H274L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CACAGTCAGGTGAGCTGAGCA	0.423000													54	108					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228459795	228459795	+	Silent	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:228459795G>A	ENST00000570156.2	+	20	5933	c.5859G>A	c.(5857-5859)tcG>tcA	p.S1953S	OBSCN_ENST00000284548.11_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Silent_p.S425S|OBSCN_ENST00000366707.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	934	Ig-like 19.				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)				GCTCCAGCTCGAAAATGCGTG	0.667000													11	37					0	0	1	0	0
AC105402.4	0	broad.mit.edu	37	2	149629672	149629673	+	RNA	INS	-	-	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr2:149629672_149629673insC	ENST00000601658.1	-	0	676																											CTCTGGCCCTGCCCCCCCCCAA	0.441													4	9	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97788717	97788720	+	Frame_Shift_Del	DEL	GTGT	GTGT	-			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr7:97788717_97788720delGTGT	ENST00000297293.5	+	6	930_933	c.637_640delGTGT	c.(637-642)ttfs	p.VF213fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	213	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTACCTCCTGGTGTTTGAGTTCTG	0.412													31	121	---	---	---	---					
C11orf94	143678	broad.mit.edu	37	11	45928741	45928741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr11:45928741delA	ENST00000449465.1	-	1	92	c.56delT	c.(55-57)ccfs	p.L19fs		NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	19						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						GATGAGGTGGAGGAAGAGGCT	0.667													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr17:7579315_7579316insC	ENST00000420246.2	-	4	503_504	c.371_372insG	c.(370-372)tacfs	p.Y124fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Y124fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	124	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (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.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(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)		AACTGACCGTGCAAGTCACAGA	0.545		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)			26	28	---	---	---	---					
