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
KRTAP3-3	85293	broad.mit.edu	37	17	39150283	39150283	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:39150283C>G	ENST00000391586.1	-	1	102	c.67G>C	c.(67-69)Gac>Cac	p.D23H		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	23	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGATTTGTCAGAGGAGCAG	0.582000													9	156					0	0	0.335167	0	0
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716000													3	8					0	0	0.115264	0	0
KCTD7	154881	broad.mit.edu	37	7	66103989	66103989	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:66103989C>T	ENST00000275532.3	+	4	824	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	KCTD7_ENST00000443322.1_Missense_Mutation_p.R214W	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGATTTGAGCGGAGTGAGAG	0.567000													4	126					0	0	0.184627	0	0
ZNF423	23090	broad.mit.edu	37	16	49669907	49669907	+	Silent	SNP	C	C	T	rs117592972	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:49669907C>T	ENST00000561648.1	-	4	3209	c.3156G>A	c.(3154-3156)gcG>gcA	p.A1052A	ZNF423_ENST00000567169.1_Silent_p.A935A|ZNF423_ENST00000535559.1_Silent_p.A935A|ZNF423_ENST00000562871.1_Silent_p.A992A|ZNF423_ENST00000562520.1_Silent_p.A992A|ZNF423_ENST00000262383.2_Silent_p.A1052A|ZNF423_ENST00000563137.2_Silent_p.A992A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1052					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGGGAGGACGCCGCTGAGC	0.602000													4	17					0	0	0.150653	0	0
CENPP	401541	broad.mit.edu	37	9	95375385	95375385	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:95375385C>T	ENST00000375587.3	+	8	1336	c.821C>T	c.(820-822)gCt>gTt	p.A274V	CENPP_ENST00000375579.3_Missense_Mutation_p.A101V|CENPP_ENST00000375576.1_Missense_Mutation_p.A88V	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	274					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ATCGAAGCTGCTCTGGAAAGC	0.473000													46	102					0	0	0.870114	0	0
NCF4	4689	broad.mit.edu	37	22	37271705	37271705	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr22:37271705G>A	ENST00000397147.4	+	8	822	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NCF4_ENST00000248899.6_Missense_Mutation_p.R213Q	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	213	SH3.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GGCACTGTCCGGGGAGCCACG	0.602000													5	89					0	0	0.248553	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454931	84454931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:84454931G>A	ENST00000377084.2	-	1	1597	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	238	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGACCACTCGGCCGATCAGG	0.522000													11	68					0	0	0.457914	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524045	24524045	+	Silent	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:24524045C>T	ENST00000376862.3	+	2	945	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	104					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTGGGGGGACGGTGTGGCCG	0.632000													4	140					0	0	0.248553	0	0
CNR1	0	broad.mit.edu	37	6	88854141	88854141	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:88854141C>T	ENST00000537554.1	-	2	4415	c.853G>A	c.(853-855)Gta>Ata	p.V285I	CNR1_ENST00000468898.1_Missense_Mutation_p.V252I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.V285I|CNR1_ENST00000549890.1_Missense_Mutation_p.V285I|CNR1_ENST00000549716.1_Missense_Mutation_p.V224I|CNR1_ENST00000369501.2_Missense_Mutation_p.V285I|CNR1_ENST00000369499.2_Missense_Mutation_p.V285I|CNR1_ENST00000535130.1_Missense_Mutation_p.V285I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	285					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGAAGCAGTACGCTGGTGACC	0.507000													11	49					0	0	0.411799	0	0
DNMT3L	29947	broad.mit.edu	37	21	45679320	45679320	+	Splice_Site	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:45679320C>T	ENST00000270172.3	-	5	827	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	DNMT3L_ENST00000418993.1_Splice_Site_p.R115Q	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	115	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTCGCCTCACCGGGTGCAATC	0.587000													18	63					0	0	0.592651	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	181					0	0	0.248553	0	0
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:124857495A>C	ENST00000529051.1	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418000													3	113					0	0	0.115264	0	0
FRG1B	0	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													4	172					0	0	0.411799	0	0
ASTN1	460	broad.mit.edu	37	1	177030386	177030386	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:177030386G>C	ENST00000367654.3	-	2	510	c.299C>G	c.(298-300)aCa>aGa	p.T100R	ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000361833.2_Missense_Mutation_p.T100R|ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATATCCTCTGTGTTCCCTGA	0.488000													3	148					0	0	0.115264	0	0
GLI2	2736	broad.mit.edu	37	2	121726332	121726332	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:121726332G>A	ENST00000452319.1	+	6	746	c.686G>A	c.(685-687)cGc>cAc	p.R229H	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R229H|GLI2_ENST00000314490.11_5'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	229					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCCTGAGCCGCAAGCGGGCG	0.637000													11	129					0	0	0.435327	0	0
BPIFB3	359710	broad.mit.edu	37	20	31643347	31643347	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:31643347G>A	ENST00000375494.3	+	1	118	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	40	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GGATGAACTCGGCAAAGGTGA	0.577000													20	55					0	0	0.667858	0	0
CCDC170	80129	broad.mit.edu	37	6	151917594	151917594	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:151917594C>T	ENST00000367290.5	+	9	1681	c.1592C>T	c.(1591-1593)gCg>gTg	p.A531V	CCDC170_ENST00000239374.7_Missense_Mutation_p.A531V			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	531																	AGGGACAACGCGCATCTTACC	0.552000													35	64					0	0	0.834066	0	0
FRG1B	0	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													11	174					0	0	0.500413	0	0
ZNF317	57693	broad.mit.edu	37	19	9271565	9271565	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:9271565A>G	ENST00000247956.6	+	7	1549	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	ZNF317_ENST00000360385.3_Missense_Mutation_p.K383R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATCGTCAAGAAACCCGTG	0.502000													24	42					0	0	0.729181	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													3	77					0	0	0.115264	0	0
HLA-E	3133	broad.mit.edu	37	6	30459140	30459140	+	Silent	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:30459140G>C	ENST00000376630.4	+	4	902	c.837G>C	c.(835-837)acG>acC	p.T279T		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	279	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						AGAGATACACGTGCCATGTGC	0.622000													3	104					0	0	0.115264	0	0
UROC1	131669	broad.mit.edu	37	3	126207086	126207086	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:126207086C>T	ENST00000290868.2	-	18	1798	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H	UROC1_ENST00000383579.3_Missense_Mutation_p.R642H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	582					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGTGGCTCCGCGACAGGCATC	0.612000													6	175					0	0	0.248553	0	0
TBX3	6926	broad.mit.edu	37	12	115109857	115109857	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr12:115109857A>C	ENST00000349155.2	-	7	2924	c.1961T>G	c.(1960-1962)gTc>gGc	p.V654G	TBX3_ENST00000257566.3_Missense_Mutation_p.V674G	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	674	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CAGGGCGGCGACTTTGCCGTC	0.721000													2	10					0	0	0.115264	0	0
IMPACT	55364	broad.mit.edu	37	18	22008832	22008832	+	Splice_Site	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:22008832G>A	ENST00000284202.4	+	3	306		c.e3-1			NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein											endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CTGCATTGTAGGTGATGCTGC	0.373000													6	50					0	0	0.307466	0	0
CGNL1	84952	broad.mit.edu	37	15	57837818	57837818	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr15:57837818C>T	ENST00000281282.5	+	17	3607	c.3529C>T	c.(3529-3531)Cgg>Tgg	p.R1177W		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1177						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTCAGCAACCGGCGGCTGGA	0.602000													3	32					0	0	0.115264	0	0
IMPA1	3612	broad.mit.edu	37	8	82591382	82591382	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:82591382C>T	ENST00000256108.5	-	4	746	c.281G>A	c.(280-282)gGa>gAa	p.G94E	IMPA1_ENST00000311489.4_Missense_Mutation_p.G94E|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.G153E	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	94	Substrate binding.				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	GTTAGTTGTTCCATCAATAGG	0.353000													22	55					0	0	0.639603	0	0
CSMD1	64478	broad.mit.edu	37	8	2806884	2806884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:2806884C>A	ENST00000520002.1	-	69	10897	c.10342G>T	c.(10342-10344)Gga>Tga	p.G3448*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3448						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTAAATCCTCCTCTTTCA	0.318000													14	32					0.0202918	0.0209535	0.457914	1	0
ARID1B	57492	broad.mit.edu	37	6	157454170	157454170	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:157454170G>A	ENST00000346085.5	+	8	2381	c.2380G>A	c.(2380-2382)Gca>Aca	p.A794T	ARID1B_ENST00000367148.1_Missense_Mutation_p.A781T|ARID1B_ENST00000275248.4_Missense_Mutation_p.A723T|ARID1B_ENST00000350026.5_Missense_Mutation_p.A781T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	781					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGGTTTTATGGCAGGCACACA	0.468000													15	46					0	0	0.592651	0	0
TLX1NB	100038246	broad.mit.edu	37	10	102849597	102849597	+	Silent	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:102849597G>A	ENST00000445873.1	-	3	1342	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	22																	CTTGGGAAAGGAGAGAGTGCT	0.662000													8	11					0	0	0.335167	0	0
TSPAN4	0	broad.mit.edu	37	11	864455	864455	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672000													4	144					0	0	0.307466	0	0
DPP10	57628	broad.mit.edu	37	2	116520170	116520170	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:116520170C>T	ENST00000410059.1	+	12	1577	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	DPP10_ENST00000409163.1_Missense_Mutation_p.T316M|DPP10_ENST00000393147.2_Missense_Mutation_p.T370M|DPP10_ENST00000310323.8_Missense_Mutation_p.T359M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	366					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACATCAGATACGTGGCTCTCT	0.353000													32	115					0	0	0.812448	0	0
MMP3	4314	broad.mit.edu	37	11	102710883	102710883	+	Silent	SNP	A	A	G	rs150024311		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:102710883A>G	ENST00000299855.5	-	6	1147	c.891T>C	c.(889-891)gaT>gaC	p.D297D		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	297	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TGCTGACAGCATCAAAGGACA	0.493000													4	134					0	0	0.217242	0	0
IPMK	253430	broad.mit.edu	37	10	59975932	59975932	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:59975932T>C	ENST00000373935.3	-	4	842	c.520A>G	c.(520-522)Att>Gtt	p.I174V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	174						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AAGAACCCAATCTCTTCCATT	0.388000													39	85					0	0	0.870114	0	0
TRIM42	287015	broad.mit.edu	37	3	140406842	140406842	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:140406842G>A	ENST00000286349.3	+	3	1509	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	440	COS.					intracellular	zinc ion binding	p.V440L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACTGGCCAGGTGGCATTCCT	0.517000													6	57					0	0	0.248553	0	0
TCERG1	10915	broad.mit.edu	37	5	145834701	145834701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:145834701C>T	ENST00000296702.5	+	2	180	c.142C>T	c.(142-144)Cga>Tga	p.R48*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R48*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	48	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.R48*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTCTGATGCGACCTCCTCC	0.607000													4	225					0	0	0.184627	0	0
DDX43	55510	broad.mit.edu	37	6	74111706	74111706	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:74111706G>C	ENST00000370336.4	+	4	719	c.561G>C	c.(559-561)aaG>aaC	p.K187N	DDX43_ENST00000539829.1_Missense_Mutation_p.K187N	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	187						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AAAAAACAAAGTGGGCAGGTC	0.358000													52	80					0	0	0.870114	0	0
KLHL6	89857	broad.mit.edu	37	3	183273149	183273149	+	Splice_Site	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:183273149C>G	ENST00000341319.3	-	1	328	c.293G>C	c.(292-294)aGg>aCg	p.R98T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	98	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCATGCTGACCTGAAATAGTT	0.493000													7	94					0	0	0.248553	0	0
TTN	7273	broad.mit.edu	37	2	179408725	179408725	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:179408725C>T	ENST00000589042.1	-	346	96370	c.96146G>A	c.(96145-96147)aGc>aAc	p.S32049N	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23109N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|TTN_ENST00000591111.1_Missense_Mutation_p.S30408N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30408	Fibronectin type-III 132.						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)			GCCCTGCTTGCTCCACGTTAT	0.493000													27	132					0	0	0.667858	0	0
TRIM28	10155	broad.mit.edu	37	19	59059687	59059687	+	Silent	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:59059687C>G	ENST00000253024.5	+	8	1417	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	TRIM28_ENST00000341753.6_Silent_p.L294L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	376	Leucine zipper alpha helical coiled-coil region.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCGGGCCCTCAAGATGATTG	0.542000													3	88					0	0	0.184627	0	0
SOCS5	0	broad.mit.edu	37	2	46986141	46986141	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:46986141G>A	ENST00000306503.5	+	2	644	c.472G>A	c.(472-474)Gta>Ata	p.V158I	SOCS5_ENST00000394861.2_Missense_Mutation_p.V158I	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	158					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCGCTACGGCGTAAGTTCTGT	0.458000													3	95					0	0	0.115264	0	0
ZNF208	7757	broad.mit.edu	37	19	22155036	22155036	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:22155036T>C	ENST00000397126.4	-	4	2948	c.2800A>G	c.(2800-2802)Aaa>Gaa	p.K934E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCTTATGTTTACTAAAGACT	0.378000													6	38					0	0	0.217242	0	0
OR6S1	341799	broad.mit.edu	37	14	21109305	21109305	+	Silent	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:21109305G>A	ENST00000320704.3	-	1	545	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GGCCACTGTCGCAGAAGAAGT	0.587000													15	27					0	0	0.500413	0	0
CDH24	64403	broad.mit.edu	37	14	23517622	23517622	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:23517622T>C	ENST00000397359.3	-	13	2286	c.2027A>G	c.(2026-2028)gAg>gGg	p.E676G	CDH24_ENST00000267383.5_Missense_Mutation_p.E676G|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G|CDH24_ENST00000487137.2_Missense_Mutation_p.E638G	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	676					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCGGACGTCCTCCTCCTCCAG	0.667000													4	167					0	0	0.150653	0	0
PPP3CA	5530	broad.mit.edu	37	4	102001731	102001731	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:102001731T>A	ENST00000394854.3	-	8	1596	c.913A>T	c.(913-915)Att>Ttt	p.I305F	PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F|PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F|PPP3CA_ENST00000512215.1_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	305					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCTGAAAAAATTGTAATTAGA	0.313000													23	35					0	0	0.706142	0	0
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587000										HNSCC(3;0.000094)			5	170					0	0	0.217242	0	0
CYTIP	9595	broad.mit.edu	37	2	158272196	158272196	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:158272196C>T	ENST00000264192.3	-	8	1194	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	CYTIP_ENST00000540637.1_Missense_Mutation_p.R252H	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	358					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CCGTCAAAAGCGACTTTCTTC	0.468000													10	47					0	0	0.361761	0	0
RPTOR	57521	broad.mit.edu	37	17	78857260	78857260	+	Silent	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:78857260C>T	ENST00000306801.3	+	15	1988	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	542					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCGCCGTGATCGTCAACAGCT	0.587000													22	52					0	0	0.667858	0	0
NALCN	259232	broad.mit.edu	37	13	101833451	101833451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:101833451G>A	ENST00000376196.3	-	15	2161	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000251127.6_Intron			Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	0						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTACTTATCGAAGATTGTGA	0.473000													10	177					0	0	0.435327	0	0
FAT2	2196	broad.mit.edu	37	5	150891839	150891839	+	Missense_Mutation	SNP	G	G	A	rs140427755		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150891839G>A	ENST00000261800.5	-	20	11804	c.11792C>T	c.(11791-11793)aCg>aTg	p.T3931M	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3931	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTGCCACCGTCTTGCCAGG	0.577000													7	101					0	0	0.248553	0	0
ZNF292	23036	broad.mit.edu	37	6	87969690	87969690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:87969690C>T	ENST00000369577.3	+	8	6386	c.6343C>T	c.(6343-6345)Cga>Tga	p.R2115*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R2110*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R2115*(1)|p.R1970*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGACCTTATCGATGTGTTCA	0.418000													27	62					0	0	0.760397	0	0
MAST1	22983	broad.mit.edu	37	19	12978320	12978320	+	Silent	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:12978320C>T	ENST00000251472.4	+	19	2211	c.2172C>T	c.(2170-2172)caC>caT	p.H724H		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	724					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGTCGCAGCACGAGCCCAAGA	0.652000													5	126					0	0	0.217242	0	0
SYNPO	11346	broad.mit.edu	37	5	150029504	150029504	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150029504G>A	ENST00000394243.1	+	3	2773	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	800	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCCTGCGCCCAGAGCCC	0.667000													32	160					0	0	0.804634	0	0
NAPG	8774	broad.mit.edu	37	18	10540386	10540386	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:10540386C>G	ENST00000322897.6	+	8	565	c.496C>G	c.(496-498)Cga>Gga	p.R166G	NAPG_ENST00000542979.1_Missense_Mutation_p.R84G	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	166					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						ACTACTAGTACGAGGACGTAG	0.373000													17	43					0	0	0.575678	0	0
LIPG	9388	broad.mit.edu	37	18	47110059	47110059	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:47110059C>T	ENST00000261292.4	+	8	1569	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	LIPG_ENST00000427224.2_Missense_Mutation_p.R357C	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	431	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.R431C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GAAGGAGTTTCGCAGCTACCT	0.592000													9	45					0	0	0.361761	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718314	142718314	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:142718314C>G	ENST00000381779.4	-	2	836	c.611G>C	c.(610-612)cGt>cCt	p.R204P	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204P|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204P	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	204						integral to membrane		p.R204H(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428000													34	24					0	0	0.827153	0	0
SLC2A5	6518	broad.mit.edu	37	1	9099650	9099650	+	Silent	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:9099650G>A	ENST00000377424.4	-	8	1136	c.957C>T	c.(955-957)gcC>gcT	p.A319A	SLC2A5_ENST00000536305.1_Silent_p.A260A|SLC2A5_ENST00000535586.1_Silent_p.A204A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	319					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGGTGCCGGCCGTCACGT	0.697000													3	4					0	0	0.184627	0	0
ESM1	11082	broad.mit.edu	37	5	54281325	54281325	+	Silent	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:54281325C>G	ENST00000381405.4	-	1	166	c.21G>C	c.(19-21)ctG>ctC	p.L7L	ESM1_ENST00000381403.4_Silent_p.L7L|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	7					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GGAGCGTGGTCAGCAGCAAGA	0.597000													3	65					0	0	0.150653	0	0
ATXN3	4287	broad.mit.edu	37	14	92548749	92548749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:92548749C>A	ENST00000545170.1	-	8	738	c.670G>T	c.(670-672)Gaa>Taa	p.E224*	ATXN3_ENST00000393287.5_Nonsense_Mutation_p.E224*|ATXN3_ENST00000340660.6_Nonsense_Mutation_p.E169*|ATXN3_ENST00000502250.1_Nonsense_Mutation_p.E45*|ATXN3_ENST00000503767.1_Nonsense_Mutation_p.E209*|ATXN3_ENST00000532032.1_Nonsense_Mutation_p.E224*|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.E209*|ATXN3_ENST00000554491.1_5'UTR	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	224					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TCCTCATCTTCGTCTAACATT	0.443000													34	79					2.75727e-19	3.01081e-19	0.804634	1	0
RIF1	55183	broad.mit.edu	37	2	152311552	152311552	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:152311552A>G	ENST00000243326.5	+	21	2971	c.2488A>G	c.(2488-2490)Att>Gtt	p.I830V	RIF1_ENST00000444746.2_Missense_Mutation_p.I830V|RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000453091.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_Missense_Mutation_p.I830V			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCTCTTCACTATTGGCAACTC	0.383000													3	137					0	0	0.115264	0	0
ORMDL1	94101	broad.mit.edu	37	2	190640394	190640394	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:190640394G>T	ENST00000325795.3	-	2	1009	c.223C>A	c.(223-225)Cct>Act	p.P75T	ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T			Q9P0S3	ORML1_HUMAN	ORM1-like 1 (S. cerevisiae)	75					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			CCCTGGTCAGGAGTTTCGAAA	0.378000													21	51					2.79863e-10	2.9873e-10	0.681144	1	0
SIAE	54414	broad.mit.edu	37	11	124539286	124539286	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:124539286T>G	ENST00000263593.3	-	2	371	c.199A>C	c.(199-201)Acc>Ccc	p.T67P	SIAE_ENST00000545756.1_Missense_Mutation_p.T32P			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	67						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TTCATGATGGTTTCCTGACCT	0.522000											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	64					0	0	0.788014	0	0
MORC2	22880	broad.mit.edu	37	22	31346413	31346413	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr22:31346413C>T	ENST00000397641.3	-	4	584	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	MORC2_ENST00000215862.4_5'UTR			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AAATCCTCCTCGAAGGTCCTC	0.488000													6	39					0	0	0.248553	0	0
XPA	7507	broad.mit.edu	37	9	100447235	100447235	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:100447235T>A	ENST00000375128.4	-	5	707	c.643A>T	c.(643-645)Aaa>Taa	p.K215*		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	215					nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				TTCTTCTGTTTCATTTTTTCT	0.353000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	41					0	0	0.217242	0	0
TIAM1	7074	broad.mit.edu	37	21	32639279	32639279	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:32639279C>T	ENST00000286827.3	-	5	481	c.10G>A	c.(10-12)Gca>Aca	p.A4T	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.A4T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	4					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGACTTTCTGCGTTTCCCATG	0.527000													19	49					0	0	0.639603	0	0
MYH4	4622	broad.mit.edu	37	17	10350362	10350362	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:10350362C>T	ENST00000255381.2	-	35	5247	c.5137G>A	c.(5137-5139)Gcc>Acc	p.A1713T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1713					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGTTCACTGGCATCCAGAAGC	0.488000													41	66					0	0	0.870114	0	0
CLRN2	645104	broad.mit.edu	37	4	17528619	17528619	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:17528619G>A	ENST00000511148.2	+	3	715	c.613G>A	c.(613-615)Gtg>Atg	p.V205M		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	205						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						AAACTTGGTCGTGGTGGCGAT	0.507000													3	74					0	0	0.115264	0	0
OR13H1	347468	broad.mit.edu	37	X	130678204	130678204	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:130678204C>T	ENST00000338616.3	+	1	255	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCACTTTGACCCCAACCTCCA	0.413000													70	49					0	0	0.870114	0	0
ASTN1	460	broad.mit.edu	37	1	176857225	176857225	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:176857225G>A	ENST00000367654.3	-	18	3291	c.3080C>T	c.(3079-3081)gCg>gTg	p.A1027V	ASTN1_ENST00000424564.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1019V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGGAGAGGCGCACAGGTGGG	0.502000													6	87					0	0	0.307466	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111793168	111793168	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:111793168T>A	ENST00000452346.2	+	14	1695	c.1692T>A	c.(1690-1692)ttT>ttA	p.F564L	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F438L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	564	LDL-receptor class A 3.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACAGAACTTTTAAGTGTGGCA	0.368000													8	92					0	0	0.307466	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366712	40366712	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:40366712C>A	ENST00000406785.2	-	7	2455	c.2266G>T	c.(2266-2268)Gtc>Ttc	p.V756F	SLC8A1_ENST00000405901.3_Missense_Mutation_p.V787F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V792F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V787F|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V784F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V792F|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTAGGGGGGACGAAGGCAAAC	0.502000													23	72					6.32553e-13	6.8287e-13	0.681144	1	0
ANKRD49	54851	broad.mit.edu	37	11	94230131	94230131	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:94230131T>A	ENST00000544253.1	+	2	390	c.272T>A	c.(271-273)aTt>aAt	p.I91N	ANKRD49_ENST00000540349.1_Missense_Mutation_p.I91N|ANKRD49_ENST00000544612.1_Intron|ANKRD49_ENST00000302755.4_Intron			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	0					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAAAAAAATTACAGAGGGA	0.398000													3	76					0	0	0.150653	0	0
ITGB5	3693	broad.mit.edu	37	3	124527930	124527930	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:124527930C>G	ENST00000296181.4	-	9	1498	c.1202G>C	c.(1201-1203)tGc>tCc	p.C401S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	401					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCATCTTGGCAGGTAGCAGT	0.473000													22	129					0	0	0.654019	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971188	31971188	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:31971188G>C	ENST00000334897.3	-	1	31	c.6C>G	c.(4-6)tgC>tgG	p.C2W		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	2						intermediate filament		p.C2C(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGCTGCCGCACATCGTGA	0.512000													11	82					0	0	0.479597	0	0
CAMK1	8536	broad.mit.edu	37	3	9804662	9804662	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:9804662A>T	ENST00000256460.3	-	5	542	c.365T>A	c.(364-366)aTc>aAc	p.I122N	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	122	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CACCTGGAAGATGAGGCGGCT	0.597000													16	35					0	0	0.520397	0	0
CYYR1	116159	broad.mit.edu	37	21	27945368	27945368	+	Silent	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:27945368G>A	ENST00000435845.2	-	1	235	c.216C>T	c.(214-216)tcC>tcT	p.S72S	CYYR1_ENST00000299340.4_5'UTR|CYYR1_ENST00000400043.3_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	0						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AGAGCCGGGTGGAGCAGAGAC	0.716000													2	3					0	0	0.115264	0	0
IFI30	10437	broad.mit.edu	37	19	18285887	18285887	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:18285887C>A	ENST00000407280.3	+	2	345	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30						antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CTGAAGAAGTCCAATGCACCG	0.582000													13	31					0.00185496	0.00195801	0.435327	1	0
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs67156933	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	ENST00000331860.3	+	3	313_336	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)gagccaggctgtaccaaggtccctdel	p.EPGCTKVP95del	SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del|SPRR3_ENST00000295367.4_In_Frame_Del_p.EPGCTKVP95del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562													8	44	---	---	---	---					
HEATR5B	54497	broad.mit.edu	37	2	37310452	37310453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:37310452_37310453insT	ENST00000233099.5	-	2	200_201	c.105_106insA	c.(103-108)aaagtcfs	p.V36fs	HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.V36fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	36							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAACCAAGACTTTATCAAGAA	0.371													31	58	---	---	---	---					
ULK4	54986	broad.mit.edu	37	3	41860984	41860985	+	Frame_Shift_Ins	INS	-	-	T	rs76318575		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:41860984_41860985insT	ENST00000301831.4	-	19	2240_2241	c.1778_1779insA	c.(1777-1779)aagfs	p.K593fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	593							ATP binding|protein serine/threonine kinase activity	p.K593fs*17(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTAGGGTTCTTTTTTTTTTC	0.450													7	86	---	---	---	---					
AGGF1	55109	broad.mit.edu	37	5	76358966	76358967	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:76358966_76358967insA	ENST00000312916.7	+	14	2416_2417	c.2034_2035insA	c.(2035-2037)aaafs	p.K679fs		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	679					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAAACAAGAACAAAAAAAACTG	0.465													7	224	---	---	---	---					
SP4	6671	broad.mit.edu	37	7	21468304	21468306	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:21468304_21468306delAGG	ENST00000222584.3	+	2	235_237	c.17_19delAGG	c.(16-21)aaggag>aag	p.E11del		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	11	Poly-Glu.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GATCAGAAGAAGGAGGAGGAGGA	0.517													2	4	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72159821	72159821	+	RNA	DEL	T	T	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:72159821delT	ENST00000343721.5	-	0	554				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCCTTAGTAATTTTTTTTTTT	0.388													7	52	---	---	---	---					
C9orf16	79095	broad.mit.edu	37	9	130925872	130925872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:130925872delC	ENST00000372994.1	+	2	378	c.230delC	c.(229-231)gccfs	p.A77fs	C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16	77										ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		CTCGGGGAGGCCCCCAGTGAT	0.677													2	4	---	---	---	---					
RP11-358H18.3	0	broad.mit.edu	37	11	17717451	17717452	+	RNA	INS	-	-	GGGCCG	rs77540938		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:17717451_17717452insGGGCCG	ENST00000524479.1	+	0	314				RP11-358H18.2_ENST00000529781.1_RNA																							gagaggggccagggccggggcc	0.797													2	4	---	---	---	---					
LTBP3	4054	broad.mit.edu	37	11	65325326	65325328	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:65325326_65325328delCAG	ENST00000301873.5	-	1	371_373	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	LTBP3_ENST00000322147.4_In_Frame_Del_p.L35del	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	35	Gly-rich.			Missing (in Ref. 2; BAB15767).		extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						cgcccaggcccagcagcagcagc	0.818													4	7	---	---	---	---					
C11orf54	28970	broad.mit.edu	37	11	93486914	93486914	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:93486914delA	ENST00000528288.1	+	4	456	c.221delA	c.(220-222)caafs	p.Q74fs	C11orf54_ENST00000331239.4_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000354421.3_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000540113.1_Frame_Shift_Del_p.Q55fs|C11orf54_ENST00000528099.1_Frame_Shift_Del_p.Q74fs	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	74						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTGTAAACCAAAAAAAAGTA	0.353													7	49	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75265762	75265768	+	Frame_Shift_Del	DEL	GTCTCAT	GTCTCAT	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:75265762_75265768delGTCTCAT	ENST00000325680.7	+	5	3886_3892	c.3762_3768delGTCTCAT	c.(3760-3768)cggtctcatfs	p.RSH1254fs	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.RSH1059fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1059					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CACCATCTCGGTCTCATGATGGAGATA	0.488													7	58	---	---	---	---					
XYLT1	64131	broad.mit.edu	37	16	17221576	17221577	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:17221576_17221577insT	ENST00000261381.6	-	10	2253_2254	c.2169_2170insA	c.(2167-2172)aaagtcfs	p.V724fs		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	724					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTTGAAGACTTTTTTCGGCA	0.490													22	186	---	---	---	---					
