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
ZNF775	285971	broad.mit.edu	37	7	150094431	150094431	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:150094431A>C	ENST00000329630.5	+	3	969	c.862A>C	c.(862-864)Aag>Cag	p.K288Q		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K288Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGTGTGGCAAGAGCTTCAC	0.721000													3	26					0	0	0.004672	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111242	7111242	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:7111242G>T	ENST00000306904.5	+	1	1078	c.891G>T	c.(889-891)ggG>ggT	p.G297G		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	297	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.G297V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGGACGGGGGACACCGCCAT	0.657000													12	9					2.27111e-07	2.77459e-07	0.093190	1	0
MTMR8	55613	broad.mit.edu	37	X	63490885	63490885	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:63490885A>T	ENST00000374852.3	-	13	1617	c.1550T>A	c.(1549-1551)cTc>cAc	p.L517H	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	517						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)|p.L517H(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AATTTCCAGGAGGCTCTCTAG	0.468000													9	44					0	0	0.069234	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306969	28306969	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:28306969C>A	ENST00000284987.5	-	4	1626	c.1505G>T	c.(1504-1506)gGg>gTg	p.G502V	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	502	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G502V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GTACTCAGGCCCGAATGTCAG	0.592000													4	22					0.00909568	0.00957045	0.009096	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906717	164906717	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:164906717C>A	ENST00000475390.1	-	2	2345	c.1902G>T	c.(1900-1902)ggG>ggT	p.G634G	SLITRK3_ENST00000241274.3_Silent_p.G634G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	634						integral to membrane		p.G634G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGGTTGGTGCCCCAATAAGGT	0.527000										HNSCC(40;0.11)			6	12					0.00116845	0.00126595	0.021553	1	0
IQCF2	389123	broad.mit.edu	37	3	51897343	51897343	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:51897343C>T	ENST00000333127.3	+	3	481	c.452C>T	c.(451-453)aCa>aTa	p.T151I	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	151								p.T151I(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGTGTGGTCACAGCCACTCAC	0.547000													30	85					0	0	0.064281	0	0
CHD4	1108	broad.mit.edu	37	12	6702648	6702648	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:6702648G>C	ENST00000309577.6	-	16	2611	c.2448C>G	c.(2446-2448)atC>atG	p.I816M	CHD4_ENST00000357008.2_Missense_Mutation_p.I816M|CHD4_ENST00000544040.1_Missense_Mutation_p.I809M|CHD4_ENST00000544484.1_Missense_Mutation_p.I813M			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	816	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.I816M(2)		central_nervous_system(2)	2						CATTCTCTCGGATGATGGCAC	0.517000													43	70					0	0	0.111260	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64672544	64672544	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:64672544C>T	ENST00000498707.1	-	2	558	c.216G>A	c.(214-216)acG>acA	p.T72T	ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA|ADAMTS9_ENST00000295903.4_Silent_p.T72T|ADAMTS9_ENST00000459780.1_Silent_p.T72T|ADAMTS9-AS2_ENST00000460833.1_RNA|ADAMTS9-AS2_ENST00000485174.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	72					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T72T(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCTCCGTCGCGTTCTTTTGA	0.557000													10	23					0	0	0.069234	0	0
GABRA3	2556	broad.mit.edu	37	X	151514097	151514097	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:151514097C>T	ENST00000370314.4	-	3	456	c.218G>A	c.(217-219)cGt>cAt	p.R73H	GABRA3_ENST00000535043.1_Missense_Mutation_p.R73H|GABRA3_ENST00000370311.1_Missense_Mutation_p.R73H	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	73					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.R73H(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCCAGAAGACGATCCAAGAT	0.473000													22	98					0	0	0.062417	0	0
LOC643711	643711	broad.mit.edu	37	12	98126390	98126390	+	RNA	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:98126390G>T	ENST00000550548.1	-	0	380					NR_077240.1																						CTCTCCTTGGGTGTTCCTCCA	0.488000													7	4					0.0381472	0.0394875	0.038147	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77317892	77317892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:77317892G>T	ENST00000282849.5	-	23	4045	c.3627C>A	c.(3625-3627)taC>taA	p.Y1209*	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1209	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y1209*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTGTTTTCCGTAAAACTTGT	0.458000													21	76					6.44725e-10	8.52953e-10	0.069288	1	0
TRO	7216	broad.mit.edu	37	X	54950180	54950180	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:54950180C>A	ENST00000173898.7	+	3	1327	c.1215C>A	c.(1213-1215)acC>acA	p.T405T	TRO_ENST00000484031.1_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000375022.4_Silent_p.T405T|TRO_ENST00000319167.8_Silent_p.T405T|TRO_ENST00000399736.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	405					embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.T405T(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CAACCAGGACCCGGGGCAAAA	0.493000													6	11					0.00116845	0.00126595	0.021553	1	0
SSX6	280657	broad.mit.edu	37	X	47969414	47969414	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:47969414A>T	ENST00000376932.2	+	2	125	c.51A>T	c.(49-51)gcA>gcT	p.A17A	SSX6_ENST00000319275.3_5'UTR														p.A17A(1)		large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						ATGCTAAAGCATCAGAGAAGA	0.567000													41	55					0	0	0.039052	0	0
CEP192	55125	broad.mit.edu	37	18	13030600	13030600	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:13030600A>T	ENST00000506447.1	+	11	1607	c.1527A>T	c.(1525-1527)agA>agT	p.R509S	CEP192_ENST00000325971.8_Missense_Mutation_p.D5V|CEP192_ENST00000430049.2_Missense_Mutation_p.R104S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	104								p.R509S(1)|p.D5V(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGACTTCAGATCTGGTTGTA	0.343000													11	93					0	0	0.093190	0	0
CDK20	23552	broad.mit.edu	37	9	90588866	90588866	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:90588866C>A	ENST00000375883.3	-	2	466	c.160G>T	c.(160-162)Gct>Tct	p.A54S	CDK20_ENST00000605159.1_Missense_Mutation_p.A54S|CDK20_ENST00000336654.5_Missense_Mutation_p.A67S|CDK20_ENST00000375871.4_Missense_Mutation_p.A54S|CDK20_ENST00000325303.8_Missense_Mutation_p.A54S	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	54	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	p.A67S(1)|p.A54S(1)		skin(1)	1						TCCTGCAGAGCCTTAATCTCC	0.562000													150	46					1.3337e-71	2.7243e-71	0.048971	1	0
CPSF7	79869	broad.mit.edu	37	11	61183865	61183865	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:61183865T>C	ENST00000340437.4	-	6	886	c.806A>G	c.(805-807)aAt>aGt	p.N269S	CPSF7_ENST00000394888.4_Missense_Mutation_p.N226S|CPSF7_ENST00000448745.1_Missense_Mutation_p.N217S|CPSF7_ENST00000439958.3_Missense_Mutation_p.N217S	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	226	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	p.N226S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AGGAGGACGATTGAAGTAGGG	0.592000													46	68					0	0	0.048971	0	0
MORC1	27136	broad.mit.edu	37	3	108698419	108698419	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:108698419G>T	ENST00000232603.5	-	24	2502	c.2420C>A	c.(2419-2421)gCg>gAg	p.A807E	MORC1_ENST00000483760.1_Missense_Mutation_p.A786E	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	807					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.A807E(1)|p.A807V(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTGAGAAGACGCTGGCGAAGA	0.413000													30	62					3.65163e-15	5.3999e-15	0.030593	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686305	125686305	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:125686305G>C	ENST00000371126.1	-	1	529	c.287C>G	c.(286-288)aCg>aGg	p.T96R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	96								p.T96R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTTGTTGACCGTGCCCAGCTC	0.657000													22	58					0	0	0.069288	0	0
CES3	23491	broad.mit.edu	37	16	66998348	66998348	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:66998348G>A	ENST00000303334.4	+	5	720	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	CES3_ENST00000394037.1_Missense_Mutation_p.G217R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	217						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.G217R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CGCCCCCTTCGGGGGTGACCT	0.582000													6	24					0	0	0.021553	0	0
ATP2B3	492	broad.mit.edu	37	X	152825205	152825205	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:152825205G>T	ENST00000370186.1	+	16	2928	c.2602G>T	c.(2602-2604)Gtg>Ttg	p.V868L	ATP2B3_ENST00000349466.2_Missense_Mutation_p.V882L|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V882L|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V868L|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V882L|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V868L|ATP2B3_ENST00000460549.1_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	882					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.V882L(3)|p.V868L(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCAAAGCCGTGCAGATGTT	0.617000													20	44					1.01871e-10	1.38357e-10	0.049695	1	0
CSMD3	114788	broad.mit.edu	37	8	113694845	113694845	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:113694845G>T	ENST00000297405.5	-	16	2747	c.2503C>A	c.(2503-2505)Cct>Act	p.P835T	CSMD3_ENST00000352409.3_Missense_Mutation_p.P835T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P795T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P731T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	835	Sushi 4.					integral to membrane|plasma membrane		p.P835T(1)|p.P795T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAGGATCAGGGCATTCATTA	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			91	65					3.17287e-45	6.18428e-45	0.048971	1	0
ACSM2B	348158	broad.mit.edu	37	16	20563612	20563612	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:20563612C>A	ENST00000329697.6	-	6	916	c.748G>T	c.(748-750)Ggc>Tgc	p.G250C	ACSM2B_ENST00000565232.1_Missense_Mutation_p.G250C|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G171C|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G250C	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	250					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.G250C(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCTTGCAGGCCTGTCCAACTG	0.473000													48	122					4.45325e-31	8.16075e-31	0.048971	1	0
DOCK2	1794	broad.mit.edu	37	5	169469016	169469016	+	Splice_Site	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:169469016G>A	ENST00000256935.8	+	38	3836		c.e38-1		DOCK2_ENST00000520908.1_Splice_Site|DOCK2_ENST00000540750.1_Splice_Site|DOCK2_ENST00000523351.1_Splice_Site	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.?(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCTTCACAGTGGTCGGATG	0.572000													13	24					0	0	0.020292	0	0
GMPS	8833	broad.mit.edu	37	3	155632279	155632279	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:155632279C>A	ENST00000496455.1	+	8	1293	c.958C>A	c.(958-960)Cgg>Agg	p.R320R	GMPS_ENST00000295920.7_Silent_p.R221R	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	320					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.R320R(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TAGAACCCCACGGAAAAGAAT	0.358000			T	MLL	AML								31	68					2.47511e-08	3.10808e-08	0.037714	1	0
ARMCX2	9823	broad.mit.edu	37	X	100911043	100911043	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:100911043G>T	ENST00000328766.5	-	5	1985	c.1532C>A	c.(1531-1533)gCa>gAa	p.A511E	ARMCX2_ENST00000356824.4_Missense_Mutation_p.A511E|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A511E	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	511						integral to membrane	binding	p.A511E(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GAAAAAGTTTGCAATGGAATT	0.368000													118	187					3.08405e-71	6.28294e-71	0.048971	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140762984	140762984	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:140762984G>T	ENST00000518325.1	+	1	518	c.518G>T	c.(517-519)aGc>aTc	p.S173I	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1												p.S173I(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCAGCTCAGCCCCAATCGC	0.567000													8	26					0.00621372	0.00660153	0.058154	1	0
CACNA2D4	93589	broad.mit.edu	37	12	2016649	2016649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:2016649C>T	ENST00000382722.5	-	6	1100	c.738G>A	c.(736-738)tgG>tgA	p.W246*	CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.W246*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.W246*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.W182*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.W246*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.W182*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	246						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.W246*(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAAAATATTGCCAGGTCAACG	0.458000													14	11					0	0	0.105934	0	0
LRRN3	54674	broad.mit.edu	37	7	110763692	110763692	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:110763692G>A	ENST00000451085.1	+	4	1910	c.864G>A	c.(862-864)gaG>gaA	p.E288E	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Silent_p.E288E|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Silent_p.E288E	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	288						integral to membrane		p.E288E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACTTAAAAGAGTTGGGGATAA	0.328000													14	78					0	0	0.028581	0	0
EBP	10682	broad.mit.edu	37	X	48386709	48386709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:48386709G>A	ENST00000495186.1	+	5	1380	c.557G>A	c.(556-558)tGg>tAg	p.W186*	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	186					cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity	p.W186*(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						CTCTACTTCTGGTTTTACTTT	0.567000													3	23					0	0	0.004672	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031048	52031048	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:52031048C>A	ENST00000346477.3	-	6	1161	c.1093G>T	c.(1093-1095)Gtg>Ttg	p.V365L	SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000359982.4_Intron|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V329L|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.V381L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	381					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.V381L(1)|p.V354L(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGTTTTGCACTGGCTGGGCT	0.488000													32	160					2.68265e-12	3.77048e-12	0.054565	1	0
UCK2	7371	broad.mit.edu	37	1	165876981	165876981	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:165876981G>T	ENST00000367879.4	+	7	1010	c.707G>T	c.(706-708)cGg>cTg	p.R236L	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	236					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	p.R236L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCCTCCAAACGGCAGACCAAT	0.617000													36	54					9.17885e-22	1.55898e-21	0.059317	1	0
LAIR2	3904	broad.mit.edu	37	19	55014160	55014160	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:55014160T>C	ENST00000301202.2	+	1	148	c.26T>C	c.(25-27)cTg>cCg	p.L9P	LAIR2_ENST00000351841.2_Missense_Mutation_p.L9P	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	9						extracellular region	receptor activity	p.L9P(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACTGCTCTCCTGGGCCTAGGT	0.622000													27	62					0	0	0.050027	0	0
CORO6	84940	broad.mit.edu	37	17	27948283	27948283	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:27948283C>G	ENST00000345068.5	-	2	370	c.157G>C	c.(157-159)Gct>Cct	p.A53P	CORO6_ENST00000584969.1_Missense_Mutation_p.A53P|CORO6_ENST00000445145.2_Missense_Mutation_p.A53P|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000580212.1_Missense_Mutation_p.A53P|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.A53P			Q6QEF8	CORO6_HUMAN	coronin 6	53					actin cytoskeleton organization	actin cytoskeleton	actin filament binding	p.A53P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CCGCCTCCAGCCTCCACAATA	0.602000													11	38					0	0	0.093190	0	0
CASQ2	845	broad.mit.edu	37	1	116287460	116287460	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:116287460G>T	ENST00000261448.5	-	2	547	c.308C>A	c.(307-309)gCc>gAc	p.A103D	CASQ2_ENST00000456138.2_Missense_Mutation_p.A103D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	103					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.A103D(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CAGTTTCTTGGCAAGCTTGGC	0.403000													20	25					1.55795e-14	2.2688e-14	0.062417	1	0
PABPC3	5042	broad.mit.edu	37	13	25671243	25671243	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:25671243G>A	ENST00000281589.3	+	1	944	c.907G>A	c.(907-909)Gat>Aat	p.D303N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	303	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.D303N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAATCTTGATGATGGTATTGA	0.428000													125	173					0	0	0.048971	0	0
FAM71B	153745	broad.mit.edu	37	5	156589909	156589909	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:156589909C>A	ENST00000302938.4	-	2	1462	c.1367G>T	c.(1366-1368)aGa>aTa	p.R456I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	456						nucleus		p.R456I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCCCCCGCTCTCCTGCGGTG	0.478000													30	132					5.45727e-16	8.27776e-16	0.037714	1	0
ASTN1	460	broad.mit.edu	37	1	176903321	176903321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:176903321G>A	ENST00000367654.2	-	16	2675	c.2662C>T	c.(2662-2664)Cga>Tga	p.R888*	ASTN1_ENST00000367657.3_Nonsense_Mutation_p.R880*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.R880*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.R880*			O14525	ASTN1_HUMAN	astrotactin 1	888					cell migration|neuron cell-cell adhesion	integral to membrane		p.R880*(1)		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						AGCCAGAGTCGCCGCTGGACC	0.502000													5	74					0	0	0.021553	0	0
PCDH9	5101	broad.mit.edu	37	13	67800609	67800609	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:67800609C>G	ENST00000544246.1	-	2	2655	c.1964G>C	c.(1963-1965)cGt>cCt	p.R655P	PCDH9_ENST00000328454.5_Missense_Mutation_p.R655P|PCDH9_ENST00000456367.1_Missense_Mutation_p.R655P|PCDH9_ENST00000377861.3_Missense_Mutation_p.R655P|PCDH9_ENST00000377865.2_Missense_Mutation_p.R655P	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	655	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R655P(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGTAGAGGAACGAGGTGGTTG	0.438000													13	87					0	0	0.105934	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247835	43247835	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:43247835C>A	ENST00000255226.6	+	14	2571	c.1755C>A	c.(1753-1755)ctC>ctA	p.L585L	SLC14A2_ENST00000589658.1_Silent_p.L62L|SLC14A2_ENST00000586448.1_Silent_p.L585L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	585						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.L585L(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACTGGGTCCTCCGAGGCACAT	0.577000													120	42					3.13773e-49	6.14707e-49	0.048971	1	0
PROKR2	128674	broad.mit.edu	37	20	5283097	5283097	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:5283097C>A	ENST00000546004.1	-	3	990	c.744G>T	c.(742-744)cgG>cgT	p.R248R	PROKR2_ENST00000217270.3_Silent_p.R248R			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	248						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R248R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ACCAGAGCTCCCGGGAGATCC	0.577000										HNSCC(71;0.22)			22	34					9.95505e-16	1.49815e-15	0.069288	1	0
PTGFR	5737	broad.mit.edu	37	1	79002220	79002220	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:79002220G>T	ENST00000370757.3	+	3	1165	c.928G>T	c.(928-930)Gct>Tct	p.A310S	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.A310S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	310					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.A310S(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TCTACGAAAGGCTGTCCTTAA	0.378000													14	86					1.5739e-10	2.12629e-10	0.028581	1	0
SHPRH	257218	broad.mit.edu	37	6	146262953	146262953	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:146262953C>G	ENST00000367503.3	-	10	2694	c.2296G>C	c.(2296-2298)Gat>Cat	p.D766H	SHPRH_ENST00000438092.2_Missense_Mutation_p.D766H|SHPRH_ENST00000275233.7_Missense_Mutation_p.D766H|SHPRH_ENST00000367505.2_Missense_Mutation_p.D766H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	766	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.D766H(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATAACTATATCCTGTTCTGCC	0.388000													9	42					0	0	0.047766	0	0
TNXB	7148	broad.mit.edu	37	6	32024666	32024666	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:32024666T>A	ENST00000375244.3	-	23	8041	c.7840A>T	c.(7840-7842)Acc>Tcc	p.T2614S	TNXB_ENST00000375247.2_Missense_Mutation_p.T2614S			P22105	TENX_HUMAN	tenascin XB	2674	Fibronectin type-III 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.T2701S(1)|p.T2614S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTTGGGTGGTCTCGGCTTCA	0.582000													65	18					0	0	0.048971	0	0
IYD	389434	broad.mit.edu	37	6	150690185	150690185	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:150690185C>T	ENST00000344419.3	+	1	158	c.18C>T	c.(16-18)ccC>ccT	p.P6P	IYD_ENST00000229447.5_Silent_p.P6P|IYD_ENST00000392255.3_Silent_p.P6P|IYD_ENST00000392256.2_Silent_p.P6P|IYD_ENST00000500320.3_Silent_p.P6P	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	6					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		p.P6P(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TCCTGACTCCCATCTTGGTAG	0.502000													111	167					0	0	0.048971	0	0
STXBP3	6814	broad.mit.edu	37	1	109315285	109315285	+	Splice_Site	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:109315285A>T	ENST00000370008.3	+	7	488		c.e7-1		STXBP3_ENST00000485167.1_Splice_Site	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3						negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GTCTTAACTTAGGTGTATACT	0.289000													9	27					0	0	0.047766	0	0
C1orf173	127254	broad.mit.edu	37	1	75037360	75037360	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:75037360C>A	ENST00000326665.5	-	14	4252	c.4034G>T	c.(4033-4035)gGa>gTa	p.G1345V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1345	Glu-rich.							p.G1345V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCACCACCTCCGTGTAGAAC	0.537000													19	72					2.39556e-15	3.58399e-15	0.076483	1	0
FGF13	2258	broad.mit.edu	37	X	137939775	137939775	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:137939775G>A	ENST00000441825.2	-	1	66	c.29C>T	c.(28-30)gCg>gTg	p.A10V	FGF13_ENST00000370603.3_Missense_Mutation_p.A39V|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	0					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.A39V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTTAATTCCGCAGATTGGAT	0.463000													24	74					0	0	0.069288	0	0
CACNA1S	779	broad.mit.edu	37	1	201061212	201061212	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:201061212G>C	ENST00000362061.3	-	4	655	c.429C>G	c.(427-429)aaC>aaG	p.N143K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.N143K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	143					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.N143K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTTGGATGACGTTAACCTGTT	0.592000													31	82					0	0	0.050027	0	0
NLGN1	22871	broad.mit.edu	37	3	173322536	173322536	+	Missense_Mutation	SNP	G	G	T	rs79808130		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:173322536G>T	ENST00000457714.1	+	3	577	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	NLGN1_ENST00000545397.1_Missense_Mutation_p.D50Y|NLGN1_ENST00000401917.3_Missense_Mutation_p.D50Y|NLGN1_ENST00000361589.4_Missense_Mutation_p.D50Y	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	50					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.D50Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAAATTGGATGATGTGGACCC	0.458000													40	72					3.09479e-21	5.18732e-21	0.092188	1	0
OR52A4P	390053	broad.mit.edu	37	11	5142424	5142424	+	RNA	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:5142424C>A	ENST00000498233.1	-	0	974																		p.A129S(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAACAGATCGCTACACAGCGG	0.468000													9	25					0.00448238	0.00478204	0.047766	1	0
DGKD	8527	broad.mit.edu	37	2	234370997	234370997	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:234370997C>A	ENST00000264057.2	+	25	2997	c.2985C>A	c.(2983-2985)atC>atA	p.I995I	DGKD_ENST00000409813.3_Silent_p.I951I	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	995					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.I995I(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCTCTAGTATCCGAGAAATAG	0.567000													5	35					0.000602214	0.000662782	0.014758	1	0
RNF17	56163	broad.mit.edu	37	13	25416251	25416251	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:25416251G>T	ENST00000255324.5	+	19	2607	c.2555G>T	c.(2554-2556)aGt>aTt	p.S852I	RNF17_ENST00000381921.1_Missense_Mutation_p.S852I	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	852					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.S852I(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTACTACTAGTATTAATGAC	0.348000													38	43					2.54651e-27	4.55753e-27	0.092188	1	0
NLRP8	126205	broad.mit.edu	37	19	56459432	56459432	+	Missense_Mutation	SNP	G	G	A	rs145268550		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56459432G>A	ENST00000291971.3	+	1	235	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R55Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	55	DAPIN.					cytoplasm	ATP binding	p.R55Q(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGCTACAACGGTTCAAGCAG	0.547000													6	19					0	0	0.021553	0	0
RGPD3	653489	broad.mit.edu	37	2	107049613	107049613	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:107049613A>C	ENST00000409886.3	-	16	2421	c.2334T>G	c.(2332-2334)caT>caG	p.H778Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.H778Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	778					intracellular transport		binding	p.H778Q(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATGGTGTAGAATGTTTTATTT	0.353000													32	192					0	0	0.048971	0	0
TBATA	219793	broad.mit.edu	37	10	72539382	72539382	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:72539382G>A	ENST00000299290.1	-	5	783	c.394C>T	c.(394-396)Cca>Tca	p.P132S	TBATA_ENST00000545575.1_Missense_Mutation_p.P122S|TBATA_ENST00000456372.2_Missense_Mutation_p.P132S	NM_152710.2	NP_689923.2			thymus, brain and testes associated									p.P132S(1)									TTAGACTGTGGGTCTCCAATG	0.572000													7	44					0	0	0.029380	0	0
ALPK2	115701	broad.mit.edu	37	18	56184325	56184325	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:56184325C>T	ENST00000361673.3	-	9	5968	c.5755G>A	c.(5755-5757)Gcc>Acc	p.A1919T		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1919	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity	p.A1919T(1)|p.A1280T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCCTCCGTGGCGATCTGACCA	0.547000													5	93					0	0	0.014758	0	0
SEMA3F	6405	broad.mit.edu	37	3	50225348	50225348	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:50225348G>A	ENST00000002829.3	+	19	2642	c.2158G>A	c.(2158-2160)Gca>Aca	p.A720T	SEMA3F_ENST00000434342.1_Missense_Mutation_p.A689T|SEMA3F_ENST00000413852.1_Missense_Mutation_p.A621T	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	720					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	p.A720T(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		ACCCCCAGGCGCAGGCCCCCC	0.667000													4	8					0	0	0.021553	0	0
OLAH	55301	broad.mit.edu	37	10	15103797	15103797	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:15103797G>C	ENST00000378217.3	+	5	584	c.397G>C	c.(397-399)Gat>Cat	p.D133H	OLAH_ENST00000378228.3_Missense_Mutation_p.D80H	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	80					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.D133H(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CCAGTTAGTTGATGAAGTTGT	0.423000													76	150					0	0	0.048971	0	0
OR52K2	119774	broad.mit.edu	37	11	4471398	4471398	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:4471398C>A	ENST00000325719.4	+	1	874	c.829C>A	c.(829-831)Ctc>Atc	p.L277I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L277I(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCCACATCCTCCTTGCCAA	0.498000													68	83					5.41795e-27	9.62912e-27	0.048971	1	0
GPR149	344758	broad.mit.edu	37	3	154055976	154055976	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:154055976G>A	ENST00000389740.2	-	4	1807	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	570						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L570F(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TAGGTAGAAAGAGATAGGGTT	0.468000													99	128					0	0	0.048971	0	0
TMTC1	83857	broad.mit.edu	37	12	29904683	29904683	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:29904683C>T	ENST00000256062.5	-	5	1003	c.530G>A	c.(529-531)tGg>tAg	p.W177*	TMTC1_ENST00000381224.2_Nonsense_Mutation_p.W177*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.W285*|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.W285*|TMTC1_ENST00000539277.1_Nonsense_Mutation_p.W285*	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	285						integral to membrane	binding	p.W177*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCAGCCACCCCAAGCTCCTTT	0.637000													16	39					0	0	0.033300	0	0
ABCD2	225	broad.mit.edu	37	12	39967542	39967542	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:39967542G>T	ENST00000308666.3	-	9	2114	c.1979C>A	c.(1978-1980)tCt>tAt	p.S660Y		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	660	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.S660Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTGTGTTATAGACAGTAAGGA	0.368000													36	46					2.87052e-16	4.39764e-16	0.080422	1	0
HMX2	3167	broad.mit.edu	37	10	124909093	124909093	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:124909093C>A	ENST00000339992.3	+	2	533	c.276C>A	c.(274-276)ccC>ccA	p.P92P		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	92					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P92P(1)		endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CAGGTACCCCCAAGGGCAGCG	0.642000													15	46					6.94344e-10	9.17013e-10	0.038395	1	0
PPP1R3F	89801	broad.mit.edu	37	X	49142649	49142649	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:49142649A>T	ENST00000055335.6	+	4	1513	c.1497A>T	c.(1495-1497)ctA>ctT	p.L499L	PPP1R3F_ENST00000495799.1_Silent_p.L153L|PPP1R3F_ENST00000466508.1_Silent_p.L153L|PPP1R3F_ENST00000438316.1_Silent_p.L170L|PPP1R3F_ENST00000376188.1_Silent_p.L153L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	499						integral to membrane		p.L499L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TGAGCCGCCTACGGGCTGCTG	0.682000													3	19					0	0	0.004672	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508039	106508039	+	Silent	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:106508039G>C	ENST00000359195.3	+	2	343	c.33G>C	c.(31-33)gtG>gtC	p.V11V	PIK3CG_ENST00000496166.1_Silent_p.V11V|PIK3CG_ENST00000440650.2_Silent_p.V11V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	11					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.V11V(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCCCGTGGTGCTGAGAGAGG	0.587000													25	46					0	0	0.108266	0	0
C6orf118	168090	broad.mit.edu	37	6	165715541	165715541	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:165715541G>T	ENST00000230301.8	-	2	290	c.270C>A	c.(268-270)cgC>cgA	p.R90R	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	90								p.R90R(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTCAGAGGCGCGCTCCCCCT	0.657000													37	54					2.75727e-19	4.46527e-19	0.074837	1	0
DNAH11	8701	broad.mit.edu	37	7	21788210	21788210	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:21788210C>T	ENST00000328843.6	+	53	8575	c.8544C>T	c.(8542-8544)agC>agT	p.S2848S	DNAH11_ENST00000409508.3_Silent_p.S2841S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2848	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S2848S(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCGCATCAGCCGGATCTTAC	0.507000									Kartagener syndrome				7	40					0	0	0.047766	0	0
BCL9	607	broad.mit.edu	37	1	147092304	147092304	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:147092304C>A	ENST00000234739.3	+	8	3083	c.2343C>A	c.(2341-2343)ccC>ccA	p.P781P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	781	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.P781P(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCATGGGCCCCAGACCATTCC	0.582000			T	"""IGH@, IGL@"""	B-ALL								12	24					0.0202918	0.0212053	0.020292	1	0
DBF4	10926	broad.mit.edu	37	7	87536810	87536810	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:87536810C>G	ENST00000265728.1	+	12	1861	c.1357C>G	c.(1357-1359)Cta>Gta	p.L453V		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	453					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	p.L453E(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACAGCTACCTCTACATAAAAA	0.323000													17	27					0	0	0.049695	0	0
SOAT2	8435	broad.mit.edu	37	12	53514665	53514665	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:53514665C>A	ENST00000301466.3	+	11	1195	c.1135C>A	c.(1135-1137)Cgg>Agg	p.R379R		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	379					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	p.R379R(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GATGTTCTACCGGGTGGGGCC	0.557000													45	66					1.35964e-18	2.16975e-18	0.048971	1	0
IBA57	200205	broad.mit.edu	37	1	228362629	228362629	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:228362629G>C	ENST00000366711.3	+	2	580	c.578G>C	c.(577-579)cGc>cCc	p.R193P	IBA57_ENST00000546123.1_5'UTR|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	193					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	p.R193P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CGAACAGCACGCATGGGGTGG	0.692000													8	21					0	0	0.047766	0	0
TANC1	85461	broad.mit.edu	37	2	160020007	160020007	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:160020007A>T	ENST00000263635.6	+	8	1133	c.896A>T	c.(895-897)tAt>tTt	p.Y299F	TANC1_ENST00000454300.1_Missense_Mutation_p.Y193F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	299						cell junction|postsynaptic density|postsynaptic membrane	binding	p.Y299F(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCAGTCCCTTATTCTCAGGGC	0.557000													17	36					0	0	0.038395	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128434679	128434679	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:128434679C>A	ENST00000265960.3	-	2	507	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	MAPKAP1_ENST00000373511.2_Missense_Mutation_p.G59C|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.G59C|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.G59C|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.G59C|MAPKAP1_ENST00000394063.1_Intron	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	59	Interaction with MAP3K2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	p.G59C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGAGTCTCACCATTGCTTCCC	0.433000													13	23					1.5842e-08	2.0091e-08	0.105934	1	0
USP36	57602	broad.mit.edu	37	17	76831480	76831480	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:76831480G>A	ENST00000312010.6	-	4	681	c.357C>T	c.(355-357)cgC>cgT	p.R119R	USP36_ENST00000590546.2_Silent_p.R119R|USP36_ENST00000589424.1_Silent_p.R119R|USP36_ENST00000542802.2_Silent_p.R119R	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	119					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R119R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTGCGCCCACGCGGAAGACCC	0.592000													13	16					0	0	0.028581	0	0
IWS1	55677	broad.mit.edu	37	2	128252492	128252492	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:128252492C>A	ENST00000295321.4	-	8	2014	c.1755G>T	c.(1753-1755)ctG>ctT	p.L585L	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	585					transcription, DNA-dependent	nucleus	DNA binding	p.L585L(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTAATTTTTTCAGTGCTGGCT	0.259000													25	58					7.38237e-10	9.71631e-10	0.030593	1	0
PRAME	23532	broad.mit.edu	37	22	22891032	22891032	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:22891032T>A	ENST00000543184.1	-	5	1849	c.987A>T	c.(985-987)atA>atT	p.I329I	PRAME_ENST00000402697.1_Silent_p.I329I|PRAME_ENST00000405655.3_Silent_p.I329I|PRAME_ENST00000398743.2_Silent_p.I329I|PRAME_ENST00000398741.1_Silent_p.I329I|PRAME_ENST00000424204.2_Silent_p.I313I|PRAME_ENST00000539862.1_Silent_p.I313I	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	329					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.I329I(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GGCAGTTAGTTATTGAGAGGG	0.547000													53	68					0	0	0.048971	0	0
SCN7A	6332	broad.mit.edu	37	2	167334168	167334168	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:167334168G>T	ENST00000409855.1	-	2	165	c.39C>A	c.(37-39)ttC>ttA	p.F13L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	13					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F13L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACTCTTTAGTGAAGGGAACAA	0.338000													2	2					0.0784	0.0808269	0.004672	1	0
CD28	940	broad.mit.edu	37	2	204599581	204599581	+	Silent	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:204599581C>G	ENST00000374481.3	+	5	579	c.357C>G	c.(355-357)cgC>cgG	p.R119R	CD28_ENST00000458610.2_Silent_p.R217R|CD28_ENST00000324106.7_Silent_p.R203R|CD28_ENST00000374478.4_Silent_p.R84R			P10747	CD28_HUMAN	CD28 molecule	203	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	p.R203R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GGCCCACCCGCAAGCATTACC	0.622000													14	61					0	0	0.105934	0	0
ARSJ	79642	broad.mit.edu	37	4	114823441	114823441	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:114823441T>A	ENST00000315366.7	-	2	2655	c.1789A>T	c.(1789-1791)Act>Tct	p.T597S	ARSJ_ENST00000541197.1_Intron	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	597				STCHSGVTCG -> KPANLAR (in Ref. 2).		extracellular region	arylsulfatase activity|metal ion binding	p.T597S(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TATCCACAAGTAACACCTGAA	0.358000													9	92					0	0	0.047766	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833217	43833217	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:43833217C>A	ENST00000319294.6	+	4	470	c.439C>A	c.(439-441)Cct>Act	p.P147T	UBASH3A_ENST00000291535.6_Missense_Mutation_p.P147T|UBASH3A_ENST00000398367.1_Missense_Mutation_p.P147T	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	147						cytosol|nucleus		p.P147T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CACGGCCGTGCCTCTGGCTCT	0.617000													23	87					6.44725e-10	8.52953e-10	0.069288	1	0
IGHV4-31	28396	broad.mit.edu	37	14	106805449	106805449	+	RNA	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:106805449G>A	ENST00000438142.2	-	0	185																											TACAGGTGAGGGACAGGGTCT	0.617000													48	121					0	0	0.048971	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008589	142008589	+	RNA	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:142008589C>A	ENST00000390387.3	+	0	109																											CCCTTGGACACAGCTGTTTCC	0.453000													13	28					1.3612e-06	1.61656e-06	0.024245	1	0
RBMXL2	27288	broad.mit.edu	37	11	7111241	7111241	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:7111241G>T	ENST00000306904.5	+	1	1077	c.890G>T	c.(889-891)gGg>gTg	p.G297V		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	297	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.G297V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAGGACGGGGGACACCGCCA	0.657000													12	9					2.27111e-07	2.77459e-07	0.093190	1	0
TAP2	6891	broad.mit.edu	37	6	32797760	32797760	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:32797760T>A	ENST00000374897.2	-	10	1873	c.1742A>T	c.(1741-1743)cAg>cTg	p.Q581L	TAP2_ENST00000374899.4_Missense_Mutation_p.Q581L|TAP2_ENST00000452392.2_Missense_Mutation_p.Q581L	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	581	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	p.Q581L(2)									GTGGGCAGCCTGGGCAGCCGC	0.488000													133	47					0	0	0.048971	0	0
GLRA1	2741	broad.mit.edu	37	5	151231087	151231087	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:151231087C>A	ENST00000274576.4	-	7	1068	c.776G>T	c.(775-777)aGc>aTc	p.S259I	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.S176I|GLRA1_ENST00000455880.2_Missense_Mutation_p.S259I	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	259					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.S259I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AATGAGCAGGCTGGGAATATA	0.517000													25	57					3.65163e-15	5.3999e-15	0.030593	1	0
HIRA	7290	broad.mit.edu	37	22	19318997	19318997	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:19318997C>A	ENST00000263208.5	-	25	3276	c.3020G>T	c.(3019-3021)tGt>tTt	p.C1007F	HIRA_ENST00000340170.4_Missense_Mutation_p.C800F|HIRA_ENST00000541063.1_Missense_Mutation_p.C963F	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	1007	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.C1007F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTGTTCCTGACACTCGGTGAA	0.622000													13	55					3.27435e-08	4.0783e-08	0.020292	1	0
IKBKG	8517	broad.mit.edu	37	X	153780355	153780355	+	Silent	SNP	C	C	A	rs149511938	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153780355C>A	ENST00000393549.2	+	2	261	c.138C>A	c.(136-138)ggC>ggA	p.G46G	IKBKG_ENST00000369606.4_Silent_p.G46G|IKBKG_ENST00000369607.1_Silent_p.G46G|IKBKG_ENST00000369601.3_Silent_p.G46G|IKBKG_ENST00000470142.1_Silent_p.G46G|IKBKG_ENST00000369602.3_Silent_p.G46G|IKBKG_ENST00000263518.6_Silent_p.G46G|IKBKG_ENST00000369609.5_Silent_p.G114G|IKBKG_ENST00000455588.2_Silent_p.G46G			Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	46	Interaction with CHUK/IKBKB.				activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity	p.G46G(1)|p.G114G(1)		endometrium(1)|lung(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGAACAGGGCGCTCCTGAGA	0.632000													46	71					9.58827e-17	1.47779e-16	0.048971	1	0
TYW1B	441250	broad.mit.edu	37	7	72281203	72281203	+	RNA	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:72281203C>A	ENST00000438125.1	-	0	336							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										GTTGGTAGGCCGTCAGTGTAT	0.418000													23	98					4.26978e-12	5.95747e-12	0.083992	1	0
PRKCH	5583	broad.mit.edu	37	14	61915900	61915900	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:61915900A>G	ENST00000332981.5	+	5	1017	c.632A>G	c.(631-633)cAt>cGt	p.H211R	PRKCH_ENST00000555082.1_Missense_Mutation_p.H50R	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	211					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	p.H211R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGTGTCGTCCATAAACGCTGC	0.413000													43	129					0	0	0.048971	0	0
KRT5	3852	broad.mit.edu	37	12	52908997	52908997	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:52908997C>A	ENST00000252242.4	-	9	1892	c.1502G>T	c.(1501-1503)gGa>gTa	p.G501V		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	501	Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.G501V(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		actgccATATCCAGAGGAAAC	0.582000													10	35					0.00829132	0.00879661	0.069234	1	0
ZNF438	220929	broad.mit.edu	37	10	31138643	31138643	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:31138643G>T	ENST00000538351.1	-	7	1298	c.544C>A	c.(544-546)Cag>Aag	p.Q182K	ZNF438_ENST00000452305.1_Missense_Mutation_p.Q221K|ZNF438_ENST00000442986.1_Missense_Mutation_p.Q231K|ZNF438_ENST00000436087.2_Missense_Mutation_p.Q231K|ZNF438_ENST00000361310.3_Missense_Mutation_p.Q231K|ZNF438_ENST00000413025.1_Missense_Mutation_p.Q231K|ZNF438_ENST00000331737.6_Missense_Mutation_p.Q221K|ZNF438_ENST00000444692.2_Missense_Mutation_p.Q221K|ZNF438_ENST00000375311.1_Intron	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q231K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GTGAGGTCCTGCTTGGCAGGC	0.488000													61	115					1.12612e-26	1.98757e-26	0.048971	1	0
TIAM1	7074	broad.mit.edu	37	21	32537342	32537342	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:32537342G>A	ENST00000286827.3	-	17	3399	c.2928C>T	c.(2926-2928)acC>acT	p.T976T	TIAM1_ENST00000541036.1_Silent_p.T916T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	976					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	p.T976T(2)		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						CCTCTGGAGCGGTCTCAGCAC	0.502000													5	34					0	0	0.014758	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129570	248129570	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:248129570A>T	ENST00000366480.3	+	1	1036	c.937A>T	c.(937-939)Acg>Tcg	p.T313S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T313S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TAAGGAAGTGACGGGGGCAGT	0.433000													32	38					0	0	0.045705	0	0
CNTN1	1272	broad.mit.edu	37	12	41410654	41410654	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:41410654G>T	ENST00000551295.2	+	19	2472	c.2355G>T	c.(2353-2355)aaG>aaT	p.K785N	CNTN1_ENST00000348761.2_Missense_Mutation_p.K774N|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.K785N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	785	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.K785N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTAAAGTCAAGGCCTTCAACA	0.423000													27	87					2.85442e-18	4.4897e-18	0.045705	1	0
WDR52	55779	broad.mit.edu	37	3	113084981	113084981	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:113084981C>A	ENST00000393845.2	-	19	2686	c.2620G>T	c.(2620-2622)Gtg>Ttg	p.V874L	WDR52_ENST00000295868.2_Missense_Mutation_p.V874L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	874								p.V22L(1)|p.V874L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CCAGCAGTCACCAAGAAACGA	0.373000													20	68					2.37509e-13	3.40697e-13	0.055883	1	0
DENND5B	160518	broad.mit.edu	37	12	31576610	31576610	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:31576610C>A	ENST00000389082.5	-	11	2656		c.e11-1		DENND5B_ENST00000306833.6_Splice_Site|DENND5B_ENST00000536562.1_Splice_Site	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B							integral to membrane		p.?(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCGACTTCCCCTGAAAGTACA	0.343000													89	110					1.10192e-24	1.92711e-24	0.048971	1	0
SAMD7	344658	broad.mit.edu	37	3	169637322	169637322	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:169637322G>T	ENST00000428432.2	+	3	425	c.36G>T	c.(34-36)caG>caT	p.Q12H	SAMD7_ENST00000335556.3_Missense_Mutation_p.Q12H	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	12								p.Q12L(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAACAGGGCAGCAGACAATCC	0.433000													31	51					8.16721e-17	1.26131e-16	0.045705	1	0
TTN	7273	broad.mit.edu	37	2	179536845	179536845	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:179536845C>A	ENST00000589042.1	-	155	35304	c.35080G>T	c.(35080-35082)Ggc>Tgc	p.G11694C	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G10393C|TTN_ENST00000591111.1_Missense_Mutation_p.G11320C|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11562	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G10393C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAACTCGCCTTCTTCAAAA	0.328000													7	19					0.0293803	0.030495	0.029380	1	0
HMGCS2	3158	broad.mit.edu	37	1	120301895	120301895	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:120301895T>A	ENST00000369406.3	-	4	745	c.696A>T	c.(694-696)ggA>ggT	p.G232G	HMGCS2_ENST00000544913.2_Silent_p.G190G|HMGCS2_ENST00000476640.1_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	232					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.G232G(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCATATGGGTTCCCCTCAGCC	0.473000													33	21					0	0	0.074837	0	0
SLC18A2	6571	broad.mit.edu	37	10	119017345	119017345	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:119017345G>T	ENST00000298472.5	+	10	1076	c.933G>T	c.(931-933)ctG>ctT	p.L311L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	311					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	p.L311L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCGCCATGCTGGAGCCAGCCC	0.542000													13	20					0.00010058	0.0001133	0.093190	1	0
FRG2B	441581	broad.mit.edu	37	10	135438789	135438789	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:135438789C>T	ENST00000443774.1	-	4	703	c.654G>A	c.(652-654)ctG>ctA	p.L218L	FRG2B_ENST00000425520.1_Silent_p.L217L			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	217						nucleus		p.L218L(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCTGGGCACACAGAGGCCCCC	0.597000													5	35					0	0	0.069234	0	0
TTN	7273	broad.mit.edu	37	2	179546142	179546142	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:179546142C>A	ENST00000589042.1	-	137	33432	c.33208G>T	c.(33208-33210)Gtg>Ttg	p.V11070L	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V9826L|TTN_ENST00000591111.1_Missense_Mutation_p.V10753L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10753	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V9826L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATGGGCACTGGTACTTTT	0.348000													8	16					0.000274275	0.000304044	0.047766	1	0
RYR1	6261	broad.mit.edu	37	19	38995661	38995661	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:38995661G>A	ENST00000355481.4	+	52	8381	c.8250G>A	c.(8248-8250)aaG>aaA	p.K2750K	RYR1_ENST00000359596.3_Silent_p.K2750K|RYR1_ENST00000360985.3_Silent_p.K2750K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2750	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.K2750K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCCGGAGAAGCTGGACTCCT	0.562000													10	63					0	0	0.080935	0	0
UTP20	27340	broad.mit.edu	37	12	101689353	101689353	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:101689353C>A	ENST00000261637.4	+	12	1521	c.1347C>A	c.(1345-1347)ctC>ctA	p.L449L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	449					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.L449L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGGCCAAGCTCATTCTGAACA	0.433000													12	43					2.80697e-09	3.63814e-09	0.080935	1	0
LAMB4	22798	broad.mit.edu	37	7	107674697	107674697	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:107674697G>T	ENST00000388781.3	-	31	4857	c.4774C>A	c.(4774-4776)Cag>Aag	p.Q1592K	LAMB4_ENST00000205386.4_Missense_Mutation_p.Q1592K|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Missense_Mutation_p.Q1592K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1592	Domain I.				cell adhesion	basement membrane		p.Q1592K(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCAGTCAGCTGTGTAATGGTA	0.353000													53	105					6.9144e-35	1.30133e-34	0.048971	1	0
LTN1	26046	broad.mit.edu	37	21	30343757	30343757	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:30343757C>A	ENST00000361371.4	-	7	970	c.820G>T	c.(820-822)Gct>Tct	p.A274S	LTN1_ENST00000389195.2_Missense_Mutation_p.A320S|LTN1_ENST00000389194.2_Missense_Mutation_p.A320S	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	274							ligase activity|zinc ion binding	p.A274S(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCAAAATAAGCTGAGCGAATC	0.348000													10	80					3.07112e-06	3.59706e-06	0.080935	1	0
OR2L2	26246	broad.mit.edu	37	1	248202292	248202292	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:248202292C>G	ENST00000366479.2	+	1	819	c.723C>G	c.(721-723)agC>agG	p.S241R	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S241R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAACCTGTAGCACCCACCTCA	0.502000													41	59					0	0	0.039052	0	0
PTGS2	5743	broad.mit.edu	37	1	186643683	186643683	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:186643683T>G	ENST00000367468.5	-	10	1753	c.1617A>C	c.(1615-1617)gaA>gaC	p.E539D	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	539					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.E539D(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAAAACCCACTTCTCCACCAA	0.443000													66	82					0	0	0.048971	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49376608	49376608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:49376608G>T	ENST00000200453.5	+	2	387	c.118G>T	c.(118-120)Gga>Tga	p.G40*		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	40	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.G40*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GAGGGGCCTGGGACCTCTAGA	0.637000													16	33					1.78486e-19	2.90277e-19	0.043863	1	0
OR2B3	442184	broad.mit.edu	37	6	29054921	29054921	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:29054921G>A	ENST00000377173.2	-	1	169	c.105C>T	c.(103-105)taC>taT	p.Y35Y		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3									p.Y35Y(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGGTGATTGTGTATGATATTA	0.408000													58	21					0	0	0.048971	0	0
FARP1	10160	broad.mit.edu	37	13	99092992	99092992	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:99092992C>G	ENST00000376586.2	+	25	3127	c.2791C>G	c.(2791-2793)Ctg>Gtg	p.L931V	FARP1_ENST00000595437.1_Missense_Mutation_p.L931V|FARP1_ENST00000319562.6_Missense_Mutation_p.L900V			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	900					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.L900V(1)|p.L931V(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCGCACATCGCTGGAGCGCCA	0.632000													8	25					0	0	0.038147	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396132	38396132	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:38396132G>T	ENST00000377698.3	+	2	540	c.387G>T	c.(385-387)aaG>aaT	p.K129N		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	129					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.K129N(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ACAATGGGAAGCCTTTCCAAG	0.577000													40	138					2.24893e-16	3.45227e-16	0.111260	1	0
ALMS1	7840	broad.mit.edu	37	2	73675761	73675761	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:73675761G>T	ENST00000264448.6	+	8	2215	c.2104G>T	c.(2104-2106)Gac>Tac	p.D702Y	ALMS1_ENST00000377715.1_Missense_Mutation_p.D702Y|ALMS1_ENST00000409009.1_Missense_Mutation_p.D660Y	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	702	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.D702Y(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGACCAGCTGACCAGAAGAC	0.478000													50	93					6.81593e-30	1.24606e-29	0.048971	1	0
SORCS3	22986	broad.mit.edu	37	10	106907476	106907476	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:106907476G>A	ENST00000369701.3	+	9	1631	c.1404G>A	c.(1402-1404)ggG>ggA	p.G468G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	468						integral to membrane	neuropeptide receptor activity	p.G468G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACACGCGTGGGATTTACTTCA	0.448000													14	59					0	0	0.028581	0	0
INSC	387755	broad.mit.edu	37	11	15197461	15197461	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:15197461G>T	ENST00000379554.3	+	3	418	c.372G>T	c.(370-372)ctG>ctT	p.L124L	INSC_ENST00000424273.1_Silent_p.L77L|INSC_ENST00000528567.1_Silent_p.L77L|INSC_ENST00000525218.1_Silent_p.L77L|INSC_ENST00000530161.1_Silent_p.L77L|INSC_ENST00000379556.3_Silent_p.L77L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	124					cell differentiation|nervous system development	cytoplasm	binding	p.L124L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCAGCTGCTGCTCAAACGGG	0.647000													13	13					3.27435e-08	4.0783e-08	0.020292	1	0
SPTA1	6708	broad.mit.edu	37	1	158644339	158644339	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:158644339C>A	ENST00000368148.3	-	9	1419	c.1239G>T	c.(1237-1239)caG>caT	p.Q413H	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q413H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	413					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q413_Q414>H*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTTATGCTGCTGATGCCTGT	0.512000													9	212					3.86212e-05	4.4155e-05	0.069234	1	0
DEFB115	245929	broad.mit.edu	37	20	29845536	29845536	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:29845536G>T	ENST00000400552.1	+	1	70	c.70G>T	c.(70-72)Gtg>Ttg	p.V24L		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	24					defense response to bacterium	extracellular region		p.V24L(1)		kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			AGTTGTCCTTGTGGTCCTGGC	0.512000													37	34					1.30015e-28	2.34886e-28	0.074837	1	0
ABCC11	85320	broad.mit.edu	37	16	48248819	48248819	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:48248819G>T	ENST00000394747.1	-	8	1570	c.1221C>A	c.(1219-1221)tcC>tcA	p.S407S	ABCC11_ENST00000394748.1_Silent_p.S407S|ABCC11_ENST00000353782.5_Silent_p.S407S|ABCC11_ENST00000356608.2_Silent_p.S407S|ABCC11_ENST00000537808.1_Silent_p.S407S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	407	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.S407S(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCAGCTTTAAGGATGTGTGGA	0.483000													20	36					1.50039e-11	2.07081e-11	0.062417	1	0
CDHR3	222256	broad.mit.edu	37	7	105672970	105672970	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:105672970G>A	ENST00000542731.1	+	19	2593	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	CDHR3_ENST00000317716.9_Missense_Mutation_p.G829R|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.G741R			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	829					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G829R(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TGCTGGGGAAGGGATGGGGTC	0.552000													18	26					0	0	0.043863	0	0
TAF3	83860	broad.mit.edu	37	10	7866336	7866336	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:7866336G>T	ENST00000344293.5	+	2	428	c.222G>T	c.(220-222)ggG>ggT	p.G74G		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	74					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.G74G(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCTGATGGGGGTTAGTCTAC	0.403000													62	154					5.86059e-21	9.75915e-21	0.048971	1	0
ZNF214	7761	broad.mit.edu	37	11	7022736	7022736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:7022736C>A	ENST00000278314.4	-	3	493	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Nonsense_Mutation_p.E60*	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E60*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTTTCATATTCTAAGTATCTG	0.378000													30	108					4.22769e-11	5.79323e-11	0.030593	1	0
CLU	1191	broad.mit.edu	37	8	27466505	27466505	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:27466505C>T	ENST00000316403.10	-	3	601	c.196G>A	c.(196-198)Gag>Aag	p.E66K	CLU_ENST00000405140.3_Missense_Mutation_p.E66K|CLU_ENST00000560366.1_Missense_Mutation_p.E118K|CLU_ENST00000523500.1_Missense_Mutation_p.E66K|CLU_ENST00000546343.1_Missense_Mutation_p.E77K			P10909	CLUS_HUMAN	clusterin	66					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	p.E118K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GTCTTGCGCTCTTCGTTTGTT	0.473000													6	151					0	0	0.021553	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110461533	110461533	+	Splice_Site	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:110461533C>G	ENST00000260283.4	-	12	1428	c.1143_splice	c.e12-1	p.D382_splice	ARHGAP20_ENST00000524756.1_Splice_Site_p.D359_splice|ARHGAP20_ENST00000528829.1_Splice_Site_p.D346_splice|ARHGAP20_ENST00000357139.3_Splice_Site_p.D356_splice|ARHGAP20_ENST00000533353.1_Splice_Site_p.D356_splice|ARHGAP20_ENST00000527598.1_Splice_Site_p.D346_splice	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	382	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.D382H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAAAGCATATCCTATGGGGAA	0.423000													21	24					0	0	0.069288	0	0
CSMD3	114788	broad.mit.edu	37	8	113293554	113293554	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:113293554G>A	ENST00000297405.5	-	59	9601	c.9357C>T	c.(9355-9357)acC>acT	p.T3119T	CSMD3_ENST00000352409.3_Silent_p.T3049T|CSMD3_ENST00000343508.3_Silent_p.T3079T|CSMD3_ENST00000455883.2_Silent_p.T2950T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3119	Sushi 23.					integral to membrane|plasma membrane		p.T3119T(1)|p.T3079T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTGGCTGTGGTTCCTGGGT	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	90					0	0	0.028581	0	0
RAG1	5896	broad.mit.edu	37	11	36597180	36597180	+	Silent	SNP	C	C	A	rs121918572		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:36597180C>A	ENST00000299440.5	+	2	2438	c.2326C>A	c.(2326-2328)Cgg>Agg	p.R776R		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	776					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R776R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGAACTGCGGGATCGGGT	0.483000									Familial Hemophagocytic Lymphohistiocytosis				16	60					2.23348e-06	2.62803e-06	0.028581	1	0
PGLYRP1	8993	broad.mit.edu	37	19	46526132	46526132	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:46526132G>T	ENST00000008938.4	-	1	191	c.148C>A	c.(148-150)Ctg>Atg	p.L50M		NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	50					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.L50M(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GGCAGGCTCAGGTGCTGGGCG	0.662000													4	10					0.00024832	0.000276473	0.009096	1	0
ITGA11	22801	broad.mit.edu	37	15	68657091	68657091	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:68657091C>A	ENST00000423218.2	-	4	406	c.311G>T	c.(310-312)cGc>cTc	p.R104L	ITGA11_ENST00000315757.7_Missense_Mutation_p.R104L|ITGA11_ENST00000562826.1_5'UTR			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	104					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.R104L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AAGGCCGAGGCGCATGTTGTC	0.647000													7	40					2.52707e-12	3.55833e-12	0.058154	1	0
NETO1	81832	broad.mit.edu	37	18	70417782	70417782	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:70417782G>C	ENST00000327305.6	-	9	1713	c.1056C>G	c.(1054-1056)atC>atG	p.I352M	NETO1_ENST00000299430.2_Missense_Mutation_p.I351M|NETO1_ENST00000583169.1_Missense_Mutation_p.I352M	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	352					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.I352M(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GGATGATCACGATGCAGGAAG	0.463000													62	16					0	0	0.048971	0	0
MYOCD	93649	broad.mit.edu	37	17	12656400	12656400	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:12656400C>A	ENST00000425538.1	+	10	1995	c.1795C>A	c.(1795-1797)Ccg>Acg	p.P599T	MYOCD_ENST00000395988.1_Missense_Mutation_p.P503T|MYOCD_ENST00000343344.4_Missense_Mutation_p.P599T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	599					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	p.P599T(2)		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)		GTGTCACCCACCGGCTTGTGA	0.517000													28	62					4.02929e-09	5.21357e-09	0.045705	1	0
NFKB2	4791	broad.mit.edu	37	10	104157797	104157797	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:104157797C>T	ENST00000369966.3	+	9	971	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	NFKB2_ENST00000189444.6_Missense_Mutation_p.R241W|NFKB2_ENST00000428099.1_Missense_Mutation_p.R241W	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	241	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R241W(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		AGGCTCTGTGCGGGGTGGAGA	0.498000			T	IGH@	B-NHL								9	133					0	0	0.069234	0	0
PCDH19	57526	broad.mit.edu	37	X	99657617	99657617	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:99657617G>T	ENST00000373034.4	-	3	4196	c.2521C>A	c.(2521-2523)Cgc>Agc	p.R841S	PCDH19_ENST00000255531.7_Missense_Mutation_p.R794S|PCDH19_ENST00000420881.2_Missense_Mutation_p.R794S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	841					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R841S(1)|p.R295S(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGGTGTTGCGGGTATTCTGG	0.567000													21	34					9.95505e-16	1.49815e-15	0.069288	1	0
PARK2	5071	broad.mit.edu	37	6	161771171	161771171	+	Missense_Mutation	SNP	C	C	A	rs137853056		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:161771171C>A	ENST00000366898.1	-	12	1460	c.1358G>T	c.(1357-1359)tGg>tTg	p.W453L	PARK2_ENST00000366894.1_Missense_Mutation_p.W262L|PARK2_ENST00000338468.3_Missense_Mutation_p.W262L|PARK2_ENST00000366896.1_Missense_Mutation_p.W304L|PARK2_ENST00000366897.1_Missense_Mutation_p.W425L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	453					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.W453L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GACGCGGTTCCACTCGCAGCC	0.637000													3	16					0.004672	0.00497049	0.004672	1	0
FGF23	8074	broad.mit.edu	37	12	4479725	4479725	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:4479725G>T	ENST00000237837.1	-	3	685	c.540C>A	c.(538-540)agC>agA	p.S180R		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	180		Cleavage; by proprotein convertases.			cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.S180R(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTCCTCGGCGCTCCGGGTGT	0.687000													11	30					4.93089e-13	7.00754e-13	0.020292	1	0
LIPG	9388	broad.mit.edu	37	18	47108730	47108730	+	Splice_Site	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:47108730A>T	ENST00000261292.4	+	7	1314		c.e7-1		LIPG_ENST00000427224.2_Splice_Site	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial						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.?(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						CTGTCACTGCAGTTTACCATT	0.448000													81	47					0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179460446	179460446	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:179460446C>A	ENST00000589042.1	-	295	57859	c.57635G>T	c.(57634-57636)gGa>gTa	p.G19212V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10339V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10272V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10147V|TTN_ENST00000342992.6_Missense_Mutation_p.G16644V|TTN_ENST00000591111.1_Missense_Mutation_p.G17571V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17571	Ig-like 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G10339V(1)|p.G16644V(1)|p.G16642V(1)|p.G10147V(1)|p.G10272V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAGAGCCTCCATCATCTTC	0.458000													6	8					8.12818e-05	9.22398e-05	0.029380	1	0
AOC1	26	broad.mit.edu	37	7	150553761	150553761	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:150553761C>G	ENST00000493429.1	+	4	787	c.203C>G	c.(202-204)aCc>aGc	p.T68S	AOC1_ENST00000416793.2_Missense_Mutation_p.T68S|AOC1_ENST00000467291.1_Missense_Mutation_p.T68S|AOC1_ENST00000360937.4_Missense_Mutation_p.T68S					amine oxidase, copper containing 1									p.T68S(1)									GCCAAGAACACCGTGTTTCTC	0.557000													50	67					0	0	0.048971	0	0
ZNF521	25925	broad.mit.edu	37	18	22805191	22805191	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:22805191C>A	ENST00000361524.3	-	4	2839	c.2691G>T	c.(2689-2691)atG>atT	p.M897I	ZNF521_ENST00000538137.2_Missense_Mutation_p.M897I|ZNF521_ENST00000584787.1_Missense_Mutation_p.M677I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	897					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.M897I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCAAAGTTTCCATAGTGTAGG	0.502000			T	PAX5	ALL								28	122					3.73148e-12	5.22543e-12	0.034045	1	0
DEPDC5	9681	broad.mit.edu	37	22	32233048	32233048	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:32233048C>T	ENST00000400246.1	+	26	2403	c.2261C>T	c.(2260-2262)cCc>cTc	p.P754L	DEPDC5_ENST00000400249.2_Missense_Mutation_p.P745L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P676L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P754L|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P745L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.P745L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P676L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P754L			O75140	DEPD5_HUMAN	DEP domain containing 5	745					intracellular signal transduction			p.P676L(1)|p.P745L(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCGTGCCTCCCCCTTACCACC	0.572000													17	64					0	0	0.028581	0	0
CHD5	26038	broad.mit.edu	37	1	6214773	6214773	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:6214773G>A	ENST00000262450.3	-	5	791	c.692C>T	c.(691-693)cCg>cTg	p.P231L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	231					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.P231L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGCACCTGCGGGGGGCTGAC	0.682000													6	20					0	0	0.038147	0	0
GAB3	139716	broad.mit.edu	37	X	153927787	153927787	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153927787G>T	ENST00000369575.3	-	6	1155	c.1122_splice	c.e6-1	p.P375_splice	GAB3_ENST00000424127.2_Splice_Site_p.P376_splice|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	375								p.P375Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAACCTGCATGGCTGCAAAAG	0.522000													30	32					5.45727e-16	8.27776e-16	0.037714	1	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													5	49					0	0	0.021553	0	0
SLC12A5	57468	broad.mit.edu	37	20	44684841	44684841	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:44684841C>T	ENST00000454036.1	+	22	2985	c.2909C>T	c.(2908-2910)gCc>gTc	p.A970V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A947V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	970					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.A947V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGAATCCAGCCAACACGCGG	0.582000													15	24					0	0	0.024245	0	0
PIGS	94005	broad.mit.edu	37	17	26883184	26883184	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:26883184C>A	ENST00000308360.7	-	10	1556	c.1181_splice	c.e10+1	p.R394_splice	PIGS_ENST00000543734.1_Splice_Site_p.R333_splice|PIGS_ENST00000395346.2_Splice_Site_p.R386_splice	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	394					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	p.R394L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					AGGACCTCACCGCAACTGTGC	0.512000													16	49					0.000308642	0.000341154	0.024245	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766660	27766660	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:27766660C>A	ENST00000451261.2	+	5	2047	c.1648C>A	c.(1648-1650)Ctt>Att	p.L550I		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2									p.L517I(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGCCACTGAGCTTACTGGGTT	0.488000													9	20					9.70103e-10	1.27461e-09	0.069234	1	0
USH2A	7399	broad.mit.edu	37	1	216262470	216262470	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:216262470C>T	ENST00000366943.2	-	23	5156	c.4770G>A	c.(4768-4770)gtG>gtA	p.V1590V	USH2A_ENST00000307340.3_Silent_p.V1590V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1590	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.V1590V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGTTACTTCCACTGGTGACC	0.328000										HNSCC(13;0.011)			21	83					0	0	0.069288	0	0
LAMA2	3908	broad.mit.edu	37	6	129835715	129835715	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:129835715C>A	ENST00000421865.2	+	64	9235	c.9186C>A	c.(9184-9186)gaC>gaA	p.D3062E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3062	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.D3062E(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACACAAATGACCCTGTGTTTG	0.463000													11	37					1.08611e-07	1.34187e-07	0.080935	1	0
IFI27L1	122509	broad.mit.edu	37	14	94568239	94568239	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:94568239A>T	ENST00000553664.1	+	5	333	c.208A>T	c.(208-210)Agc>Tgc	p.S70C	IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000556381.1_Silent_p.A46A|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000393115.3_Silent_p.A47A|IFI27L1_ENST00000554562.1_Silent_p.A47A|IFI27L1_ENST00000555523.1_Silent_p.A47A			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	0						integral to membrane		p.A47A(1)		lung(2)	2						CCTCCATAGCAGCCAAGATGA	0.587000													55	34					0	0	0.048971	0	0
RRM2	6241	broad.mit.edu	37	2	10269234	10269234	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:10269234A>G	ENST00000360566.2	+	9	1441	c.1150A>G	c.(1150-1152)Att>Gtt	p.I384V	RRM2_ENST00000304567.5_Missense_Mutation_p.I324V	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	324					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	p.I324V(1)|p.I384V(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		GAAGCAATACATTGAGTTTGT	0.413000													72	124					0	0	0.048971	0	0
RELN	5649	broad.mit.edu	37	7	103151432	103151432	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:103151432G>C	ENST00000424685.2	-	51	8299	c.8140C>G	c.(8140-8142)Cat>Gat	p.H2714D	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.H2714D|RELN_ENST00000343529.5_Missense_Mutation_p.H2714D			P78509	RELN_HUMAN	reelin	2714					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F2713_H2714>LD(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAATCATCATGGAATAGCCAG	0.383000													11	37					0	0	0.080935	0	0
UNC5D	137970	broad.mit.edu	37	8	35608282	35608282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:35608282C>A	ENST00000287272.2	+	12	1931	c.1911C>A	c.(1909-1911)taC>taA	p.Y637*	UNC5D_ENST00000449677.1_Nonsense_Mutation_p.Y282*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.Y706*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.Y701*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.Y639*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.Y711*			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	706	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.Y701*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCTGGATTACAACTTGAGAG	0.448000													88	109					2.4313e-29	4.41321e-29	0.048971	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54786654	54786654	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:54786654G>T	ENST00000474759.1	+	12	1244	c.1196G>T	c.(1195-1197)cGa>cTa	p.R399L	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R399L|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R399L|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R305L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	399	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.R399L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTCATTGGACGAGAGGCTGCG	0.512000													11	18					2.80697e-09	3.63814e-09	0.080935	1	0
ANKMY1	51281	broad.mit.edu	37	2	241463637	241463637	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:241463637C>A	ENST00000391987.1	-	8	1596	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	ANKMY1_ENST00000536462.1_Missense_Mutation_p.E222D|ANKMY1_ENST00000373318.2_Missense_Mutation_p.E269D|ANKMY1_ENST00000373320.4_Missense_Mutation_p.E180D|ANKMY1_ENST00000405002.1_Missense_Mutation_p.E180D|ANKMY1_ENST00000361678.4_Missense_Mutation_p.E269D|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.E410D|ANKMY1_ENST00000405523.3_Missense_Mutation_p.E269D|ANKMY1_ENST00000403283.1_Missense_Mutation_p.E348D|ANKMY1_ENST00000401804.1_Missense_Mutation_p.E499D			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	410							zinc ion binding	p.E410D(1)|p.E269D(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGTGGCCGCCCTCGTGGCTGC	0.642000													15	44					4.93089e-13	7.00754e-13	0.020292	1	0
PLS3	5358	broad.mit.edu	37	X	114856611	114856611	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:114856611G>C	ENST00000420625.2	+	3	261	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	PLS3_ENST00000537301.1_Missense_Mutation_p.E21Q|PLS3_ENST00000539310.1_5'UTR|PLS3_ENST00000355899.3_Missense_Mutation_p.E43Q|PLS3_ENST00000289290.3_5'UTR	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	43	EF-hand 1.					cytoplasm	actin binding|calcium ion binding	p.E43Q(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCTCTTCAAGGAAGCTAATAT	0.348000													56	93					0	0	0.048971	0	0
ODF2	4957	broad.mit.edu	37	9	131262412	131262412	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:131262412A>C	ENST00000303890.5	+	23	2881	c.2296A>C	c.(2296-2298)Aac>Cac	p.N766H	ODF2_ENST00000372807.5_Missense_Mutation_p.N785H|ODF2_ENST00000434106.2_Missense_Mutation_p.N790H|ODF2_ENST00000372796.4_Missense_Mutation_p.N790H|ODF2_ENST00000444119.2_Missense_Mutation_p.N766H|ODF2_ENST00000351030.3_Missense_Mutation_p.N785H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	790					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.N766H(1)|p.N790H(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGAGAGCACCAACCGCAGCAT	0.582000													5	67					0	0	0.021553	0	0
SVIL	6840	broad.mit.edu	37	10	29813491	29813491	+	Silent	SNP	C	C	A	rs113842540	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:29813491C>A	ENST00000375398.2	-	16	2945	c.2496G>T	c.(2494-2496)gcG>gcT	p.A832A	SVIL_ENST00000355867.4_Silent_p.A832A|SVIL_ENST00000375400.3_Silent_p.A406A			O95425	SVIL_HUMAN	supervillin	832					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.A832A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGTAGAAATCGCTTTTGAGA	0.507000													48	80					4.01344e-20	6.5972e-20	0.048971	1	0
COL19A1	1310	broad.mit.edu	37	6	70647991	70647991	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:70647991C>A	ENST00000322773.4	+	9	1037	c.936_splice	c.e9+1	p.P312_splice		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	312	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P312Q(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAGGAGAGCCGGTAAGAAAA	0.373000													14	11					0.000219431	0.000244664	0.020292	1	0
CDH9	1007	broad.mit.edu	37	5	26881466	26881466	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:26881466G>A	ENST00000231021.4	-	12	2321	c.2149C>T	c.(2149-2151)Cat>Tat	p.H717Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	717					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H717Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AATCTTCGATGGATAAAATCT	0.413000													36	61					0	0	0.080422	0	0
GPR84	53831	broad.mit.edu	37	12	54757386	54757386	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:54757386G>T	ENST00000551809.1	-	1	885	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	GPR84_ENST00000267015.3_Missense_Mutation_p.L84M|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	84						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L84M(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGCCAGTGCAGGTGGAGGTAG	0.582000													11	25					0.000978159	0.00106582	0.080935	1	0
DACT1	51339	broad.mit.edu	37	14	59112601	59112601	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:59112601G>A	ENST00000395153.3	+	4	1296	c.1149G>A	c.(1147-1149)tcG>tcA	p.S383S	DACT1_ENST00000541264.2_Silent_p.S139S|DACT1_ENST00000395151.3_Silent_p.S139S|DACT1_ENST00000556859.1_Silent_p.S139S|DACT1_ENST00000335867.4_Silent_p.S420S	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	420					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.S420S(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGCAGTGGTCGAAAGAATCAA	0.567000													8	90					0	0	0.069234	0	0
TOP2B	7155	broad.mit.edu	37	3	25665829	25665829	+	Silent	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:25665829G>C	ENST00000435706.2	-	20	2640	c.2439C>G	c.(2437-2439)ggC>ggG	p.G813G	TOP2B_ENST00000264331.4_Silent_p.G818G			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	818					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.G813G(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CAGCATCTTTGCCACCATGAA	0.363000													4	104					0	0	0.014758	0	0
DNAH9	1770	broad.mit.edu	37	17	11837221	11837221	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:11837221C>T	ENST00000262442.3	+	65	12390	c.12322C>T	c.(12322-12324)Ctg>Ttg	p.L4108L	DNAH9_ENST00000396001.2_Silent_p.L420L|DNAH9_ENST00000454412.2_Silent_p.L4032L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4108					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L4108L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGCGCTACCTGTTTGGAGA	0.517000													10	50					0	0	0.058154	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893905	32893905	+	RNA	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:32893905G>C	ENST00000330048.5	-	0	1352					NR_003083.2																						CACAAGTGAGGTTGGCCAGGC	0.627000													24	177					0	0	0.091800	0	0
CSMD2	114784	broad.mit.edu	37	1	34112410	34112410	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:34112410A>C	ENST00000373381.4	-	29	4788	c.4612T>G	c.(4612-4614)Ttc>Gtc	p.F1538V	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.F411V	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1498	CUB 9.					integral to membrane|plasma membrane	protein binding	p.F1498V(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATATGGAGGAAGTCATAGCCA	0.547000													8	8					0	0	0.047766	0	0
TMEM178A	130733	broad.mit.edu	37	2	39931220	39931220	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:39931220G>T	ENST00000281961.2	+	2	456		c.e2-1		TMEM178A_ENST00000482239.1_Splice_Site	NM_152390.2	NP_689603.2			transmembrane protein 178A									p.?(1)									TTTCCTTCAAGGTATTGCGCA	0.443000													12	24					9.31168e-06	1.08236e-05	0.105934	1	0
ZFPM2	23414	broad.mit.edu	37	8	106801085	106801085	+	Silent	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:106801085G>C	ENST00000407775.2	+	6	922	c.672G>C	c.(670-672)ctG>ctC	p.L224L	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.L92L|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.L92L|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	224					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.L224L(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACGCCTGCTGGACTCAATTC	0.498000													46	72					0	0	0.048971	0	0
BIRC6	57448	broad.mit.edu	37	2	32724814	32724814	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:32724814G>T	ENST00000421745.2	+	46	8803	c.8669G>T	c.(8668-8670)cGa>cTa	p.R2890L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2890					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.R2862L(1)|p.R2890L(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGGTGCTCGAGCATGCTTT	0.438000													83	153					1.55023e-36	2.93205e-36	0.048971	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21032388	21032388	+	Missense_Mutation	SNP	C	C	G	rs138702607		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:21032388C>G	ENST00000381545.3	+	11	1373	c.1154C>G	c.(1153-1155)aCg>aGg	p.T385R	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T385R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T385R|LST3_ENST00000540229.1_Missense_Mutation_p.T385R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	385					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.T385R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACCATTCCTACGGTTGCAACT	0.274000													9	43					0	0	0.058154	0	0
KIF4B	285643	broad.mit.edu	37	5	154395645	154395645	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:154395645A>T	ENST00000435029.4	+	1	2386	c.2226A>T	c.(2224-2226)cgA>cgT	p.R742R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	742	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R742R(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGCAGCTCGAGTGAGGAATT	0.483000													10	31					0	0	0.069234	0	0
EARS2	124454	broad.mit.edu	37	16	23540900	23540900	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:23540900C>A	ENST00000449606.1	-	7	1306	c.1275G>T	c.(1273-1275)tgG>tgT	p.W425C	EARS2_ENST00000564501.1_Missense_Mutation_p.W425C|EARS2_ENST00000563459.1_Missense_Mutation_p.W425C|EARS2_ENST00000563232.1_Missense_Mutation_p.W425C|EARS2_ENST00000564987.1_5'UTR	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	425					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	p.W425C(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CAGGGCGAGTCCACAGGTAAG	0.592000													11	43					1.58986e-06	1.88228e-06	0.069234	1	0
GPR119	139760	broad.mit.edu	37	X	129518863	129518863	+	Missense_Mutation	SNP	C	C	A	rs142057970		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:129518863C>A	ENST00000276218.2	-	1	648	c.559G>T	c.(559-561)Gac>Tac	p.D187Y		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	187						integral to membrane|plasma membrane	lipid binding	p.D187Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TTGAGCATGTCGCAGTAGAAG	0.542000													40	48					9.88483e-10	1.29654e-09	0.098360	1	0
MYF6	4618	broad.mit.edu	37	12	81102680	81102680	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:81102680G>T	ENST00000228641.3	+	3	892	c.670G>T	c.(670-672)Gac>Tac	p.D224Y		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	224					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.D224Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTCCATCGTGGACAGTATTTC	0.512000													38	86					1.47244e-24	2.56923e-24	0.086207	1	0
ZWILCH	55055	broad.mit.edu	37	15	66811350	66811350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:66811350G>T	ENST00000307897.5	+	5	834	c.454G>T	c.(454-456)Gga>Tga	p.G152*	RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Nonsense_Mutation_p.G38*|ZWILCH_ENST00000565960.1_Intron|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_Nonsense_Mutation_p.G38*|ZWILCH_ENST00000535141.2_Nonsense_Mutation_p.G38*	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	152					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	p.G152*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTGTTGGCTAGGAGCTGAGCT	0.428000													19	83					6.33239e-15	9.32809e-15	0.055883	1	0
USH2A	7399	broad.mit.edu	37	1	216465702	216465702	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:216465702C>A	ENST00000366943.2	-	10	2041	c.1655G>T	c.(1654-1656)tGc>tTc	p.C552F	USH2A_ENST00000307340.3_Missense_Mutation_p.C552F|USH2A_ENST00000366942.3_Missense_Mutation_p.C552F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	552	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.C552F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGAGGCAAGCAGCGATCACA	0.363000										HNSCC(13;0.011)			13	40					0.000151284	0.000169918	0.105934	1	0
H3F3C	440093	broad.mit.edu	37	12	31944715	31944715	+	Missense_Mutation	SNP	C	C	A	rs147097287		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:31944715C>A	ENST00000340398.3	-	1	460	c.386G>T	c.(385-387)cGg>cTg	p.R129L		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	129					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R129L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TCCCCGTATCCGGCGAGCCAA	0.438000										HNSCC(67;0.2)			93	92					1.02827e-36	1.95448e-36	0.048971	1	0
TSPYL2	64061	broad.mit.edu	37	X	53114989	53114989	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:53114989T>G	ENST00000375442.4	+	6	1547	c.1415T>G	c.(1414-1416)aTc>aGc	p.I472S		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	472					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	p.I472S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						ATAACTGACATCAATGAGAAC	0.463000													37	66					0	0	0.080422	0	0
SKIDA1	387640	broad.mit.edu	37	10	21805106	21805106	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:21805106C>A	ENST00000449193.2	-	4	3898	c.1646G>T	c.(1645-1647)aGg>aTg	p.R549M	SKIDA1_ENST00000444772.3_Missense_Mutation_p.R470M	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.R549M(2)									CTCAGATACCCTATCGTTCCT	0.542000													26	71					3.73988e-18	5.87039e-18	0.030593	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	28					0	0	0.004672	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65346652	65346652	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:65346652C>T	ENST00000284037.5	+	20	2334	c.1945C>T	c.(1945-1947)Cac>Tac	p.H649Y	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.H645Y|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.H649Y	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	649					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	p.H649Y(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGAAGTTACACACAATAGCAA	0.333000													13	54					0	0	0.024245	0	0
NUDT12	83594	broad.mit.edu	37	5	102895744	102895744	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:102895744C>A	ENST00000230792.2	-	2	302	c.206_splice	c.e2+1	p.G69_splice	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	69						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	p.G69V(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AAATGTTTACCCTTTCTCAAG	0.363000													33	50					4.39465e-27	7.8286e-27	0.054565	1	0
SSPO	23145	broad.mit.edu	37	7	149484826	149484826	+	RNA	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:149484826C>G	ENST00000378016.2	+	0	3648							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCACATTATGCCACGCGGAGG	0.667000													2	3					0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100685329	100685329	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:100685329C>A	ENST00000306151.4	+	3	10696	c.10632C>A	c.(10630-10632)tcC>tcA	p.S3544S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3544	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3544S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTTGACTCCAACACTTTTG	0.483000													108	253					6.25226e-48	1.22174e-47	0.048971	1	0
AVPR2	554	broad.mit.edu	37	X	153171777	153171777	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153171777A>G	ENST00000358927.2	+	3	1026	c.817A>G	c.(817-819)Acg>Gcg	p.T273A	AVPR2_ENST00000337474.5_Missense_Mutation_p.T273A|AVPR2_ENST00000370049.1_Missense_Mutation_p.T273A			P30518	V2R_HUMAN	arginine vasopressin receptor 2	273					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.T273A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGTGAGGATGACGCTAGTGAT	0.672000													3	133					0	0	0.004672	0	0
MTMR1	8776	broad.mit.edu	37	X	149905222	149905222	+	Silent	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:149905222G>C	ENST00000445323.2	+	11	1357	c.1236G>C	c.(1234-1236)gtG>gtC	p.V412V	MTMR1_ENST00000541925.1_Silent_p.V310V|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000451863.2_Silent_p.V404V|MTMR1_ENST00000370390.3_Silent_p.V404V|MTMR1_ENST00000544228.1_Silent_p.V404V			Q13613	MTMR1_HUMAN	myotubularin related protein 1	404	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity	p.V404V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAATGTGGATGGGACGC	0.438000													22	49					0	0	0.069288	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397328	51397328	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:51397328A>G	ENST00000327536.5	-	1	145	c.46T>C	c.(46-48)Tgt>Cgt	p.C16R	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	16								p.C16R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TCTGCCTCACAGAGTGTGGAA	0.512000													47	63					0	0	0.048971	0	0
FLT1	2321	broad.mit.edu	37	13	28964084	28964084	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:28964084C>A	ENST00000282397.4	-	13	2069	c.1818G>T	c.(1816-1818)aaG>aaT	p.K606N	FLT1_ENST00000541932.1_Missense_Mutation_p.K606N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	606	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.K606N(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CCATTTTTTGCTTGCTAATAC	0.413000													40	117					7.53189e-24	1.30235e-23	0.098360	1	0
TRBV29-1	28558	broad.mit.edu	37	7	142448616	142448616	+	RNA	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:142448616C>T	ENST00000422143.2	+	0	277																		p.A70A(1)									GCTCTGAGGCCACATATGAGA	0.498000													16	23					0	0	0.024245	0	0
NELL1	4745	broad.mit.edu	37	11	20950015	20950015	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:20950015G>T	ENST00000298925.5	+	10	1224	c.1071G>T	c.(1069-1071)aaG>aaT	p.K357N	NELL1_ENST00000325319.5_Missense_Mutation_p.K272N|NELL1_ENST00000357134.5_Missense_Mutation_p.K329N|NELL1_ENST00000532434.1_Missense_Mutation_p.K329N			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	329	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.K329N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGTGCTGTAAGGTCTGCCGAC	0.498000													27	34					2.4375e-19	3.95577e-19	0.034045	1	0
PCDH17	27253	broad.mit.edu	37	13	58207805	58207805	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:58207805G>T	ENST00000377918.3	+	1	1151	c.1125G>T	c.(1123-1125)cgG>cgT	p.R375R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	375	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R375R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCTGGTGCGGGTCACTGACC	0.731000													7	26					2.0095e-06	2.36812e-06	0.029380	1	0
HOXB2	3212	broad.mit.edu	37	17	46622233	46622233	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:46622233C>T	ENST00000330070.4	-	1	1208	c.41G>A	c.(40-42)aGc>aAc	p.S14N	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	14					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S14N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CGACGGCTGGCTGTTTATAAA	0.532000													15	76					0	0	0.033300	0	0
LRRC15	131578	broad.mit.edu	37	3	194080235	194080235	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:194080235T>A	ENST00000347624.3	-	2	1623	c.1538A>T	c.(1537-1539)gAa>gTa	p.E513V	LRRC15_ENST00000428839.1_Missense_Mutation_p.E519V|LRRC15_ENST00000439944.2_Missense_Mutation_p.E519V	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	513						integral to membrane		p.E513I(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGTGTAGTCTTCCACAGGGCT	0.552000													21	38					0	0	0.062417	0	0
SIX2	10736	broad.mit.edu	37	2	45236176	45236176	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:45236176C>A	ENST00000303077.6	-	1	393	c.74G>T	c.(73-75)gGc>gTc	p.G25V		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	25						nucleus	sequence-specific DNA binding transcription factor activity	p.G25V(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCGATGTTGCCGCCCTGCTG	0.682000													3	12					0.00909568	0.00957045	0.009096	1	0
MDN1	23195	broad.mit.edu	37	6	90468063	90468063	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:90468063C>A	ENST00000369393.3	-	19	2728	c.2613G>T	c.(2611-2613)ctG>ctT	p.L871L	MDN1_ENST00000428876.1_Silent_p.L871L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	871					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.L871L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GATGCCGAACCAGTGGCTCTG	0.453000													12	1					6.40141e-05	7.29685e-05	0.080935	1	0
HTR1F	3355	broad.mit.edu	37	3	88040284	88040284	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:88040284G>A	ENST00000319595.4	+	1	439	c.385G>A	c.(385-387)Gtt>Att	p.V129I		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	129					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.V129I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CACAGATGCTGTTGAGTATGC	0.433000													6	30					0	0	0.021553	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862876	10862876	+	RNA	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:10862876C>A	ENST00000559480.1	+	0	172																		p.Q58K(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CTGGGTGCACCAGGTCCATGC	0.562000													17	143					5.43694e-19	8.72892e-19	0.080422	1	0
MAP3K19	80122	broad.mit.edu	37	2	135745412	135745412	+	Missense_Mutation	SNP	C	C	A	rs145468662		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:135745412C>A	ENST00000375845.3	-	7	1060	c.1030G>T	c.(1030-1032)Gtt>Ttt	p.V344F	MAP3K19_ENST00000358371.4_Missense_Mutation_p.V231F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.V361F|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.V344F(1)									TCTTCCCTAACTGCAGGAATA	0.373000													25	33					9.57634e-11	1.30293e-10	0.083992	1	0
ATL1	51062	broad.mit.edu	37	14	51087337	51087337	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:51087337A>T	ENST00000441560.2	+	10	1364	c.883A>T	c.(883-885)Aaa>Taa	p.K295*	ATL1_ENST00000357032.3_Nonsense_Mutation_p.K295*|ATL1_ENST00000358385.6_Nonsense_Mutation_p.K295*|ATL1_ENST00000354525.4_Nonsense_Mutation_p.K295*	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	295					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	p.N296fs*2(1)|p.K295*(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TGAATTCATCAAAAACTTGAA	0.378000													8	124					0	0	0.069234	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094408	77094408	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:77094408T>G	ENST00000328299.3	+	5	983	c.835T>G	c.(835-837)Ttt>Gtt	p.F279V		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	279					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.F279V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGGTCATAGGTTTATCACTGA	0.378000													30	65					0	0	0.030593	0	0
EIF4E3	317649	broad.mit.edu	37	3	71748851	71748851	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:71748851C>A	ENST00000425534.2	-	3	265	c.258G>T	c.(256-258)tgG>tgT	p.W86C	EIF4E3_ENST00000448225.1_5'UTR|EIF4E3_ENST00000389826.3_5'UTR|EIF4E3_ENST00000295612.3_5'UTR|EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000421769.2_5'UTR	NM_001134651.1	NP_001128123.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	86					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	p.W86C(1)		large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		TGTATACACTCCAAAATATCT	0.318000													22	67					8.10497e-08	1.0046e-07	0.055883	1	0
MXRA5	25878	broad.mit.edu	37	X	3261777	3261777	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:3261777C>A	ENST00000217939.6	-	2	252	c.98G>T	c.(97-99)tGc>tTc	p.C33F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	33	LRRNT.					extracellular region		p.C33F(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGGACGTAGCAGGCACAAGG	0.627000													8	30					0.0381472	0.0394875	0.038147	1	0
ZNF234	10780	broad.mit.edu	37	19	44662182	44662182	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:44662182C>A	ENST00000426739.2	+	6	2271	c.2013C>A	c.(2011-2013)caC>caA	p.H671Q	ZNF234_ENST00000592437.1_Missense_Mutation_p.H671Q	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H671Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TAAGTCATCACAAAATTCATG	0.368000													24	44					1.10923e-09	1.45243e-09	0.076483	1	0
C17orf53	78995	broad.mit.edu	37	17	42232034	42232034	+	Splice_Site	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:42232034T>A	ENST00000319977.4	+	6	1798		c.e6+2		C17orf53_ENST00000585683.1_Splice_Site|C17orf53_ENST00000245382.6_Splice_Site	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53									p.?(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACCCCACGGGTAAGGAATTAG	0.542000													9	46					0	0	0.047766	0	0
MYH11	4629	broad.mit.edu	37	16	15818582	15818582	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:15818582G>T	ENST00000338282.6	-	30	4144	c.4038C>A	c.(4036-4038)aaC>aaA	p.N1346K	MYH11_ENST00000396324.3_Missense_Mutation_p.N1353K|MYH11_ENST00000300036.5_Missense_Mutation_p.N1346K|MYH11_ENST00000452625.2_Missense_Mutation_p.N1353K|MYH11_ENST00000576790.1_Missense_Mutation_p.N1346K|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396354.1_3'UTR|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000342673.5_3'UTR	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1346					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.N1346K(1)|p.N1353K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTGCAGGCTGTTCCGCTCCT	0.592000			T	CBFB	AML								64	171					1.52808e-22	2.62446e-22	0.048971	1	0
TMEM176B	28959	broad.mit.edu	37	7	150488658	150488658	+	Silent	SNP	C	C	A	rs146845592	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:150488658C>A	ENST00000447204.2	-	7	1146	c.774G>T	c.(772-774)tcG>tcT	p.S258S	TMEM176B_ENST00000434545.1_Silent_p.S258S|TMEM176B_ENST00000326442.5_Silent_p.S258S|TMEM176B_ENST00000429904.2_Silent_p.S258S|TMEM176B_ENST00000492607.1_Silent_p.S258S|TMEM176B_ENST00000450753.2_Silent_p.S221S	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	258					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.S258S(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTAGAGGGCGAAGGGGGCA	0.567000													21	30					7.41877e-09	9.45554e-09	0.062417	1	0
CNBD1	168975	broad.mit.edu	37	8	88218342	88218342	+	Missense_Mutation	SNP	G	G	C	rs114439288	by1000genomes	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:88218342G>C	ENST00000518476.1	+	5	604	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	185								p.E185Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGTCTTTTCCGAAACCTGGTT	0.373000													47	30					0	0	0.048971	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254366	30254366	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:30254366G>T	ENST00000361644.2	+	5	1062	c.325G>T	c.(325-327)Gac>Tac	p.D109Y	MAGEB3_ENST00000378986.1_Missense_Mutation_p.D109Y	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	109								p.D109Y(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GTCTCGCACAGACCCTCTAAT	0.398000													17	51					2.48551e-13	3.54543e-13	0.033300	1	0
GPR112	139378	broad.mit.edu	37	X	135428831	135428831	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:135428831C>A	ENST00000394143.1	+	6	3257	c.2966C>A	c.(2965-2967)tCc>tAc	p.S989Y	GPR112_ENST00000412101.1_Missense_Mutation_p.S784Y|GPR112_ENST00000287534.4_Missense_Mutation_p.S926Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S784Y|GPR112_ENST00000370652.1_Missense_Mutation_p.S989Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	989					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S989Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAGCTACGTCCTTGTCTGAT	0.493000													116	175					1.14936e-50	2.28086e-50	0.048971	1	0
TRPC5	7224	broad.mit.edu	37	X	111025234	111025234	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:111025234A>G	ENST00000262839.2	-	8	2947	c.2029T>C	c.(2029-2031)Ttc>Ctc	p.F677L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	677					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.F677L(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTGTTGTTGAACCAGTTACCA	0.448000													15	237					0	0	0.043863	0	0
ITGB8	3696	broad.mit.edu	37	7	20441685	20441685	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:20441685G>T	ENST00000222573.3	+	10	2307	c.1623G>T	c.(1621-1623)gtG>gtT	p.V541V	ITGB8_ENST00000537992.1_Silent_p.V406V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	541	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.V541V(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TTGGAAAAGTGTATGGAAAAT	0.398000													50	159					3.19069e-20	5.26738e-20	0.048971	1	0
CSMD3	114788	broad.mit.edu	37	8	113293448	113293448	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:113293448A>C	ENST00000297405.5	-	59	9707	c.9463T>G	c.(9463-9465)Tgc>Ggc	p.C3155G	CSMD3_ENST00000352409.3_Missense_Mutation_p.C3085G|CSMD3_ENST00000343508.3_Missense_Mutation_p.C3115G|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2986G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3155	Sushi 23.					integral to membrane|plasma membrane		p.C3155G(1)|p.C3115G(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGCTGTGCACTGTCTAACT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	138					0	0	0.021553	0	0
TSPAN33	340348	broad.mit.edu	37	7	128801519	128801519	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:128801519G>T	ENST00000289407.4	+	2	211		c.e2-1			NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33							integral to membrane		p.?(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TGTCTCCACAGGTGATTTCCA	0.552000													48	105					3.77171e-38	7.22283e-38	0.048971	1	0
NFATC2	4773	broad.mit.edu	37	20	50139662	50139662	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:50139662G>T	ENST00000371564.3	-	2	1337	c.1118C>A	c.(1117-1119)cCc>cAc	p.P373H	NFATC2_ENST00000396009.3_Missense_Mutation_p.P373H|NFATC2_ENST00000414705.1_Missense_Mutation_p.P353H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	373					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.P373H(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGCCAAGTGGGCGGAACCAG	0.577000													34	200					1.57351e-24	2.73935e-24	0.064281	1	0
GABRP	2568	broad.mit.edu	37	5	170216248	170216248	+	Missense_Mutation	SNP	G	G	T	rs146765294	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:170216248G>T	ENST00000518525.1	+	4	633	c.169G>T	c.(169-171)Ggt>Tgt	p.G57C	GABRP_ENST00000519385.1_Missense_Mutation_p.G57C|GABRP_ENST00000519598.1_Missense_Mutation_p.G57C|GABRP_ENST00000265294.4_Missense_Mutation_p.G57C			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	57						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G57C(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCCAATTTTGGTGGTAGGTC	0.473000													13	12					1.61879e-10	2.17543e-10	0.093190	1	0
FAT3	120114	broad.mit.edu	37	11	92086050	92086050	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:92086050C>A	ENST00000298047.6	+	1	789	c.772C>A	c.(772-774)Cgc>Agc	p.R258S	FAT3_ENST00000541502.1_Missense_Mutation_p.R258S|FAT3_ENST00000525166.1_Missense_Mutation_p.R108S|FAT3_ENST00000409404.2_Missense_Mutation_p.R258S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	258	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R258C(2)|p.R258S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACATTGAGCGCATAAATGA	0.428000										TCGA Ovarian(4;0.039)			65	78					1.50372e-20	2.4878e-20	0.048971	1	0
MYO9A	4649	broad.mit.edu	37	15	72190736	72190736	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:72190736G>A	ENST00000356056.5	-	25	4580	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	MYO9A_ENST00000444904.1_Missense_Mutation_p.R1351W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1370W|MYO9A_ENST00000566885.1_Missense_Mutation_p.R990W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1370W|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1370	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.R1370W(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCATTGTCCCGTGAATCAAAT	0.438000													26	80					0	0	0.099896	0	0
ENPP2	5168	broad.mit.edu	37	8	120602768	120602768	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:120602768G>T	ENST00000427067.2	-	13	1352	c.1172C>A	c.(1171-1173)tCc>tAc	p.S391Y	ENPP2_ENST00000259486.6_Missense_Mutation_p.S447Y|ENPP2_ENST00000075322.6_Missense_Mutation_p.S395Y|ENPP2_ENST00000522167.1_Missense_Mutation_p.S34Y|ENPP2_ENST00000522826.1_Missense_Mutation_p.S395Y			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	395					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.S447Y(1)|p.S395Y(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCTAAATTTGGATCGAATTCT	0.338000													77	40					3.27973e-32	6.06828e-32	0.048971	1	0
SF3A1	10291	broad.mit.edu	37	22	30738254	30738254	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:30738254T>C	ENST00000439242.1	-	6	748	c.617A>G	c.(616-618)tAt>tGt	p.Y206C	SF3A1_ENST00000215793.7_Missense_Mutation_p.Y271C	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	271					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	p.Y271C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GATCTGAGCATAGGCCACCCG	0.532000													15	27					0	0	0.024245	0	0
ZNF831	128611	broad.mit.edu	37	20	57829372	57829372	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:57829372G>C	ENST00000371030.2	+	5	4608	c.4608G>C	c.(4606-4608)gaG>gaC	p.E1536D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1536						intracellular	nucleic acid binding|zinc ion binding	p.E1536D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCACAGAAGAGGGCAGAGCAC	0.493000													11	12					0	0	0.069234	0	0
F8	2157	broad.mit.edu	37	X	154065972	154065972	+	Missense_Mutation	SNP	G	G	C	rs137852472		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:154065972G>C	ENST00000360256.4	-	26	7156	c.6956C>G	c.(6955-6957)cCg>cGg	p.P2319R	F8_ENST00000330287.6_Missense_Mutation_p.P184R	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2319	F5/8 type C 2.		P -> L (in HEMA; mild/severe).|P -> S (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.P2319R(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTCAGTAACGGTGGGTCTAG	0.502000													14	37					0	0	0.020292	0	0
BCAN	63827	broad.mit.edu	37	1	156622549	156622549	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:156622549G>T	ENST00000329117.4	+	8	2143	c.1807G>T	c.(1807-1809)Ggt>Tgt	p.G603C	BCAN_ENST00000361588.5_Missense_Mutation_p.G603C|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	603					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.G603C(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCCCTGAGGGTACCAGGGA	0.647000													7	32					3.09899e-07	3.76797e-07	0.047766	1	0
KCNB1	3745	broad.mit.edu	37	20	47989700	47989700	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:47989700G>T	ENST00000371741.4	-	2	2563	c.2397C>A	c.(2395-2397)agC>agA	p.S799R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	799					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.S799R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTAAAGGGGAGCTTTCAAAGT	0.522000													103	245					2.32112e-61	4.69123e-61	0.048971	1	0
TTF2	8458	broad.mit.edu	37	1	117605061	117605061	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:117605061G>T	ENST00000369466.3	+	3	228	c.184G>T	c.(184-186)Ggt>Tgt	p.G62C		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	62					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	p.G62C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGAGCTTCAGGGTTTGCTTCT	0.378000													5	68					3.59834e-05	4.13863e-05	0.021553	1	0
CTNNA2	1496	broad.mit.edu	37	2	80816498	80816498	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:80816498G>C	ENST00000466387.1	+	19	2801	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q	CTNNA2_ENST00000496558.1_Missense_Mutation_p.E693Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E727Q|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E372Q|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E693Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E693Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E693Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	693					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.E693Q(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATTCCATCAAGAGAAAAGCAA	0.488000													22	52					0	0	0.055883	0	0
RFT1	91869	broad.mit.edu	37	3	53156537	53156537	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:53156537G>T	ENST00000296292.3	-	4	370	c.309C>A	c.(307-309)atC>atA	p.I103I	RFT1_ENST00000394738.3_Silent_p.I64I	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	103					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.I103I(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GCTGCAACCAGATCCAGCCCA	0.423000													19	26					2.39187e-15	3.58399e-15	0.049695	1	0
DRD3	1814	broad.mit.edu	37	3	113890579	113890579	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:113890579T>A	ENST00000383673.2	-	2	691	c.261A>T	c.(259-261)gtA>gtT	p.V87V	DRD3_ENST00000460779.1_Silent_p.V87V|DRD3_ENST00000295881.7_Silent_p.V87V|DRD3_ENST00000467632.1_Silent_p.V87V	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	87					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.V87V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CCTCCAGGTATACCACCCAGG	0.547000													26	71					0	0	0.030593	0	0
ANXA10	11199	broad.mit.edu	37	4	169105768	169105768	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:169105768A>T	ENST00000359299.3	+	11	1028	c.842A>T	c.(841-843)gAc>gTc	p.D281V		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	281							calcium ion binding|calcium-dependent phospholipid binding	p.D281V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGTGAAATAGACCTGCTGACC	0.373000													59	74					0	0	0.048971	0	0
ZNF638	27332	broad.mit.edu	37	2	71591170	71591170	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:71591170G>T	ENST00000409544.1	+	5	2135	c.1505G>T	c.(1504-1506)aGt>aTt	p.S502I	ZNF638_ENST00000355812.3_Missense_Mutation_p.S502I|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.S502I|ZNF638_ENST00000377802.2_Missense_Mutation_p.S502I	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	502	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.S502I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCAAGCTCAAGTCACAGATTC	0.458000													28	76					5.45727e-16	8.27776e-16	0.037714	1	0
FBXO39	162517	broad.mit.edu	37	17	6690699	6690699	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:6690699G>T	ENST00000321535.4	+	4	1411	c.1281G>T	c.(1279-1281)ctG>ctT	p.L427L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	427								p.L427L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ACAGAAAGCTGATCGAATCAG	0.398000													18	63					3.41278e-10	4.55434e-10	0.033300	1	0
WDR35	57539	broad.mit.edu	37	2	20180465	20180465	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:20180465C>A	ENST00000345530.3	-	4	409	c.294G>T	c.(292-294)tgG>tgT	p.W98C	WDR35_ENST00000281405.4_Missense_Mutation_p.W98C	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	98								p.W98C(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATATAACATCCACACAATGA	0.333000													24	50					4.4004e-07	5.32497e-07	0.083992	1	0
PCDHGB7	56099	broad.mit.edu	37	5	140798154	140798154	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:140798154G>T	ENST00000398594.2	+	1	728	c.728G>T	c.(727-729)aGc>aTc	p.S243I	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1												p.S243I(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTGTTCAGCCAGGACGTG	0.567000													33	62					4.3181e-19	6.97819e-19	0.054565	1	0
MED16	10025	broad.mit.edu	37	19	881589	881589	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:881589C>A	ENST00000312090.6	-	7	1261	c.1111G>T	c.(1111-1113)Gcc>Tcc	p.A371S	MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.A371S|MED16_ENST00000325464.1_Missense_Mutation_p.A371S|MED16_ENST00000269814.4_Missense_Mutation_p.A371S|MED16_ENST00000395808.3_Missense_Mutation_p.A371S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	371					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	p.A371S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCGCTGGCCACCTTGAGG	0.657000													62	24					5.86059e-21	9.75915e-21	0.048971	1	0
NXF4	55999	broad.mit.edu	37	X	101822135	101822135	+	RNA	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:101822135C>G	ENST00000360035.2	+	0	1888					NR_002216.1															endometrium(2)|lung(8)	10						CTCTCCAGATCACTCATTACT	0.458000													3	9					0	0	0.004672	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551393	100551393	+	RNA	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:100551393C>A	ENST00000397112.4	-	0	1805					NR_036632.1													p.R68M(1)		large_intestine(1)|lung(3)	4						GGGCTGCTGCCTCAGGTTCCT	0.647000													28	37					1.50538e-07	1.85092e-07	0.030593	1	0
KNDC1	85442	broad.mit.edu	37	10	134999589	134999589	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:134999589C>T	ENST00000304613.3	+	6	758	c.737C>T	c.(736-738)cCg>cTg	p.P246L	KNDC1_ENST00000368571.2_Missense_Mutation_p.P181L|KNDC1_ENST00000368572.2_Missense_Mutation_p.P246L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	246					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.P246L(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCGAAGGCCCGGAGTCTGAG	0.721000													3	10					0	0	0.004672	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814109	106814109	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:106814109G>T	ENST00000407775.2	+	8	2049	c.1799G>T	c.(1798-1800)gGc>gTc	p.G600V	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G468V|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G468V|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G331V	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	600					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.G600V(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAACACTGGCCAAACCTCC	0.463000													190	170					7.07375e-107	1.45268e-106	0.048971	1	0
ZNF852	285346	broad.mit.edu	37	3	44541551	44541551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:44541551C>A	ENST00000436261.1	-	4	878	c.718G>T	c.(718-720)Gag>Tag	p.E240*	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	240					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E240*(2)|p.E190*(1)		endometrium(2)|kidney(1)|lung(5)	8						TAGGGTTTCTCCCCATTATGG	0.458000													10	8					1.76689e-08	2.22972e-08	0.058154	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													4	4					0	0	0.009096	0	0
PRAMEF19	645414	broad.mit.edu	37	1	13695833	13695833	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:13695833T>A	ENST00000540591.1	-	3	1178	c.1132A>T	c.(1132-1134)Aac>Tac	p.N378Y	PRAMEF19_ENST00000376101.2_Missense_Mutation_p.N309Y	NM_001099790.1	NP_001093260.2			PRAME family member 19									p.N309Y(1)		lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTGAGGTTGGAGCAGCGG	0.552000													4	97					0	0	0.021553	0	0
TIMELESS	8914	broad.mit.edu	37	12	56814763	56814763	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:56814763T>A	ENST00000229201.4	-	24	3175	c.3021A>T	c.(3019-3021)caA>caT	p.Q1007H	TIMELESS_ENST00000554616.1_Missense_Mutation_p.Q505H|TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q1008H	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1008					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.Q1008H(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GATGCAGGCTTTGACCAAGGT	0.498000													35	101					0	0	0.080422	0	0
THSD7A	221981	broad.mit.edu	37	7	11676130	11676130	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:11676130G>T	ENST00000423059.3	-	2	900	c.649C>A	c.(649-651)Cgg>Agg	p.R217R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	217	TSP type-1 2.					integral to membrane		p.R217R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGACGCGTCCGGTGCTGGAGC	0.617000										HNSCC(18;0.044)			7	31					0.00198382	0.00213128	0.029380	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107459835	107459835	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:107459835G>A	ENST00000409382.3	-	2	1209	c.599C>T	c.(598-600)tCc>tTc	p.S200F	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S200F|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S200F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	200					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S200F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAGGCCCTGGACATGGAGGA	0.612000													26	49					0	0	0.083992	0	0
ERAS	3266	broad.mit.edu	37	X	48687822	48687822	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:48687822G>A	ENST00000338270.1	+	1	540	c.289G>A	c.(289-291)Gca>Aca	p.A97T		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	97					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.A97T(2)		endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GCTGGACACAGCAGGGCAGGC	0.602000													31	86					0	0	0.059317	0	0
KDM2B	84678	broad.mit.edu	37	12	122018777	122018777	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:122018777G>A	ENST00000377071.4	-	1	112	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	KDM2B_ENST00000536437.1_5'UTR|KDM2B_ENST00000538046.2_Missense_Mutation_p.P14S|RP13-941N14.1_ENST00000541574.1_lincRNA	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	14					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.P14F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTTCGTGGGGGGTGATCCTCT	0.478000													82	82					0	0	0.048971	0	0
BAZ2B	29994	broad.mit.edu	37	2	160287467	160287467	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:160287467G>A	ENST00000392783.2	-	10	2596	c.2101C>T	c.(2101-2103)Cca>Tca	p.P701S	BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000392782.1_Missense_Mutation_p.P699S|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P701S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.P701S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GCAGAGCCTGGGGCTTTTGCT	0.463000													39	82					0	0	0.098360	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978982	148978982	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:148978982G>T	ENST00000434415.1	+	6	1352	c.1189G>T	c.(1189-1191)Ggg>Tgg	p.G397W	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	397					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.G397W(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GCTGGAGCCGGGGGAGGTGGT	0.746000													8	14					3.86212e-05	4.4155e-05	0.069234	1	0
UGT2B15	7366	broad.mit.edu	37	4	69513061	69513061	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:69513061C>T	ENST00000338206.5	-	6	1363	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	452					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.D452Y(1)|p.D452N(1)									ATTGGTTGGTCATGATGAATT	0.388000													33	114					0	0	0.059317	0	0
ZFP30	22835	broad.mit.edu	37	19	38126960	38126960	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:38126960C>A	ENST00000351218.2	-	6	1039	c.482G>T	c.(481-483)gGg>gTg	p.G161V	ZFP30_ENST00000392144.1_Missense_Mutation_p.G161V|ZFP30_ENST00000514101.2_Missense_Mutation_p.G161V|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G161V(2)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCACATTCCCCACATTCGTA	0.393000													43	91					2.215e-12	3.12466e-12	0.042209	1	0
MUC5B	727897	broad.mit.edu	37	11	1269245	1269245	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:1269245C>A	ENST00000447027.1	+	31	11202	c.11144C>A	c.(11143-11145)cCg>cAg	p.P3715Q	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P3712Q			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3712	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P3712Q(1)|p.P3691Q(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGCCACCCCGTCCTCCACC	0.657000													34	67					4.64027e-19	7.48304e-19	0.048971	1	0
COL4A5	1287	broad.mit.edu	37	X	107935990	107935990	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:107935990G>T	ENST00000328300.6	+	50	4785	c.4541G>T	c.(4540-4542)aGc>aTc	p.S1514I	COL4A5_ENST00000361603.2_Missense_Mutation_p.S1508I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1508	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.S1508I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACGGCTGGCAGCTGCCTTCGT	0.408000									Alport syndrome with Diffuse Leiomyomatosis				14	85					1.3612e-06	1.61656e-06	0.024245	1	0
DOCK2	1794	broad.mit.edu	37	5	169474591	169474591	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:169474591C>A	ENST00000256935.8	+	40	4124	c.4044C>A	c.(4042-4044)taC>taA	p.Y1348*	DOCK2_ENST00000520908.1_Nonsense_Mutation_p.Y840*|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.Y409*|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1348	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.Y1348*(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGGATACTACGGCCAGGGAT	0.522000													24	39					5.35356e-11	7.30985e-11	0.076483	1	0
DOCK2	1794	broad.mit.edu	37	5	169267762	169267762	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:169267762C>A	ENST00000256935.8	+	27	2785	c.2703_splice	c.e27-1	p.A902_splice	DOCK2_ENST00000520908.1_Splice_Site_p.A394_splice|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	902					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.A902D(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTTTACAGGCCTTCACCTAC	0.493000													9	23					4.68919e-08	5.83104e-08	0.069234	1	0
PDZD8	118987	broad.mit.edu	37	10	119044378	119044378	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:119044378C>A	ENST00000334464.5	-	5	2105	c.1866G>T	c.(1864-1866)gtG>gtT	p.V622V	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	622	Pro-rich.				intracellular signal transduction		metal ion binding	p.V622V(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GAGGTGGCACCACCTTCTCTG	0.483000													23	81					1.96895e-08	2.48061e-08	0.076483	1	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293805	71293805	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:71293805C>A	ENST00000398530.1	-	1	116	c.79G>T	c.(79-81)Ggc>Tgc	p.G27C	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	27						keratin filament		p.G27C(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCCACAGCCAGAGCCACAG	0.642000													33	43					2.46105e-21	4.13414e-21	0.045705	1	0
CLDN2	9075	broad.mit.edu	37	X	106171518	106171518	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:106171518C>A	ENST00000541806.1	+	2	579	c.60C>A	c.(58-60)ggC>ggA	p.G20G	CLDN2_ENST00000336803.1_Silent_p.G20G|CLDN2_ENST00000540876.1_Silent_p.G20G	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	20					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.G20G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GGCTTTTGGGCACACTGGTTG	0.557000													42	65					4.44401e-20	7.28932e-20	0.039052	1	0
SGCZ	137868	broad.mit.edu	37	8	13965682	13965682	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:13965682G>T	ENST00000382080.1	-	6	1325	c.610C>A	c.(610-612)Caa>Aaa	p.Q204K	SGCZ_ENST00000421524.2_Missense_Mutation_p.Q157K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	191					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.Q204K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGAGATCTTGGGATGGCTCT	0.438000													20	25					1.28384e-07	1.58106e-07	0.062417	1	0
TMEM144	55314	broad.mit.edu	37	4	159174649	159174649	+	Silent	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:159174649A>G	ENST00000296529.6	+	13	1528	c.1008A>G	c.(1006-1008)ggA>ggG	p.G336G	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	336						integral to membrane		p.G336G(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TCTTGACTGGAGCCTTATGCA	0.393000													23	82					0	0	0.099896	0	0
PRMT10	90826	broad.mit.edu	37	4	148589703	148589703	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:148589703T>C	ENST00000322396.6	-	6	1182	c.940A>G	c.(940-942)Aga>Gga	p.R314G	PRMT10_ENST00000541232.1_Missense_Mutation_p.R201G|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	314						cytoplasm	binding|protein methyltransferase activity	p.R314G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TGATGTCTTCTTATCTCTGCA	0.363000													21	34					0	0	0.099896	0	0
KCNH1	3756	broad.mit.edu	37	1	211192199	211192199	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:211192199C>A	ENST00000271751.4	-	6	985	c.958G>T	c.(958-960)Gcc>Tcc	p.A320S	KCNH1_ENST00000367007.4_Intron			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	320					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.A320S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCCATAAAGGCACTAACCTCA	0.473000													46	91					8.86878e-18	1.38926e-17	0.048971	1	0
RNF212	285498	broad.mit.edu	37	4	1066813	1066813	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:1066813G>A	ENST00000433731.2	-	10	804	c.743C>T	c.(742-744)aCc>aTc	p.T248I	RNF212_ENST00000382968.5_Silent_p.H230H			Q495C1	RN212_HUMAN	ring finger protein 212	248							zinc ion binding	p.H230H(1)|p.T248I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TTTAGAGTTGGTGAGTTCCCC	0.527000											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	38					0	0	0.093190	0	0
OR5P2	120065	broad.mit.edu	37	11	7818288	7818288	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:7818288C>A	ENST00000329434.2	-	1	232	c.202G>T	c.(202-204)Gcc>Tcc	p.A68S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A68S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATGAATAGGCCATGTCAGCA	0.438000													53	59					2.17126e-26	3.82341e-26	0.048971	1	0
SLC22A12	116085	broad.mit.edu	37	11	64366303	64366303	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:64366303G>A	ENST00000377574.1	+	6	1725	c.978G>A	c.(976-978)gaG>gaA	p.E326E	SLC22A12_ENST00000473690.1_Silent_p.E105E|SLC22A12_ENST00000377567.2_Silent_p.E218E|SLC22A12_ENST00000336464.7_Silent_p.E292E|SLC22A12_ENST00000377572.1_Silent_p.E218E	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	326			Missing (affects urate transport).		cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.E326E(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CCATGCGGGAGGAGCTGAGCA	0.662000													9	44					0	0	0.069234	0	0
TNXB	7148	broad.mit.edu	37	6	32011608	32011608	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:32011608G>A	ENST00000375244.3	-	35	11649	c.11448C>T	c.(11446-11448)atC>atT	p.I3816I	TNXB_ENST00000375247.2_Silent_p.I3814I|TNXB_ENST00000451343.1_Silent_p.I245I			P22105	TENX_HUMAN	tenascin XB	3861	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.I245I(1)|p.I3881I(1)|p.I3816I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGCGCCTGGGATCAGCCCCT	0.627000													8	139					0	0	0.038147	0	0
STK39	27347	broad.mit.edu	37	2	168996894	168996894	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:168996894C>A	ENST00000355999.4	-	7	1450	c.745G>T	c.(745-747)Ggc>Tgc	p.G249C		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	249	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	p.G249C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						AAGTCATAGCCTCTCACCTAA	0.413000													20	23					1.64113e-05	1.89609e-05	0.055883	1	0
UCK2	7371	broad.mit.edu	37	1	165876982	165876982	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:165876982G>T	ENST00000367879.4	+	7	1011	c.708G>T	c.(706-708)cgG>cgT	p.R236R	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	236					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	p.R236L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCTCCAAACGGCAGACCAATG	0.622000													34	54					5.91797e-21	9.83332e-21	0.050027	1	0
NCAM2	4685	broad.mit.edu	37	21	22838976	22838976	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:22838976G>T	ENST00000400546.1	+	13	1953	c.1704G>T	c.(1702-1704)agG>agT	p.R568S	NCAM2_ENST00000284894.7_Missense_Mutation_p.R426S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	568	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.R568S(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATGAAATCAGGGTTGCAGCTG	0.299000													4	10					0.00909568	0.00957045	0.009096	1	0
KIAA0922	23240	broad.mit.edu	37	4	154548817	154548817	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:154548817C>T	ENST00000409663.3	+	31	4234	c.4182C>T	c.(4180-4182)ccC>ccT	p.P1394P	KIAA0922_ENST00000440693.1_Silent_p.P1311P|KIAA0922_ENST00000409959.3_Silent_p.P1395P	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1394						integral to membrane		p.P1395P(1)|p.P1247P(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGCCGGGCCCACAGGTGTTG	0.517000													5	18					0	0	0.038147	0	0
PAK7	57144	broad.mit.edu	37	20	9525048	9525048	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:9525048C>A	ENST00000378429.3	-	9	2383	c.1837G>T	c.(1837-1839)Gag>Tag	p.E613*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.E613*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.E613*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	613	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E613*(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAAATCACCTCAGGGGCCATC	0.502000													75	67					1.356e-25	2.38234e-25	0.048971	1	0
TP53BP1	7158	broad.mit.edu	37	15	43771676	43771676	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:43771676T>A	ENST00000263801.3	-	7	944	c.692A>T	c.(691-693)cAg>cTg	p.Q231L	TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q236L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q236L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q236L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	231					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	p.Q231L(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTGCTGGACTGTTCTGCTAT	0.403000								Other conserved DNA damage response genes					79	100					0	0	0.048971	0	0
DNAH2	146754	broad.mit.edu	37	17	7638002	7638002	+	Silent	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:7638002T>C	ENST00000572933.1	+	7	2414	c.954T>C	c.(952-954)ttT>ttC	p.F318F	DNAH2_ENST00000570791.1_Silent_p.F318F|DNAH2_ENST00000082259.3_Silent_p.F318F|DNAH2_ENST00000389173.2_Silent_p.F318F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	318	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F318F(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCGCCCTTTATGAAACTGG	0.512000													17	49					0	0	0.038395	0	0
SPTA1	6708	broad.mit.edu	37	1	158607998	158607998	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:158607998C>G	ENST00000368148.3	-	36	5194	c.5014G>C	c.(5014-5016)Gat>Cat	p.D1672H	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1672H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1672					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1672H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGAGCAAATCTTCAGCCAAT	0.418000													21	69					0	0	0.083992	0	0
ZNF157	7712	broad.mit.edu	37	X	47272883	47272883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:47272883G>T	ENST00000377073.3	+	4	1497	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	471					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E471*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAGACCCTTTGAGTGTCAAGA	0.453000													18	31					1.00905e-13	1.45561e-13	0.049695	1	0
UGT3A2	167127	broad.mit.edu	37	5	36038112	36038112	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:36038112G>T	ENST00000282507.3	-	6	1183	c.1082C>A	c.(1081-1083)cCa>cAa	p.P361Q	UGT3A2_ENST00000545528.1_Missense_Mutation_p.P59Q|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P327Q	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	361						integral to membrane	glucuronosyltransferase activity	p.P361Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACGGATGCTTGGGTGAGCTGT	0.507000													11	49					0.00010058	0.0001133	0.093190	1	0
LAMA1	284217	broad.mit.edu	37	18	7008579	7008579	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:7008579T>A	ENST00000389658.3	-	28	4123	c.4030A>T	c.(4030-4032)Aga>Tga	p.R1344*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1344	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.R1344*(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGCCTTTCTGCCAACCTCC	0.443000													13	68					0	0	0.024245	0	0
GRIK2	2898	broad.mit.edu	37	6	102074407	102074407	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:102074407T>A	ENST00000369138.1	+	3	926	c.436T>A	c.(436-438)Tat>Aat	p.Y146N	GRIK2_ENST00000369137.3_Missense_Mutation_p.Y146N|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y146N|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y97N|GRIK2_ENST00000358361.3_Missense_Mutation_p.Y146N|GRIK2_ENST00000421544.1_Missense_Mutation_p.Y146N|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y146N	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	146					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Y146N(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGATTCCTTCTATGTCAGTCT	0.498000													25	35					0	0	0.091800	0	0
MRPL44	65080	broad.mit.edu	37	2	224828609	224828609	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:224828609G>A	ENST00000258383.3	+	3	854	c.785G>A	c.(784-786)gGt>gAt	p.G262D		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	262	DRBM.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	p.G262D(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGGCAGTCTGGTGGCACCACA	0.373000													34	37					0	0	0.080422	0	0
CUL4B	8450	broad.mit.edu	37	X	119694176	119694176	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:119694176G>T	ENST00000371322.5	-	1	379	c.318C>A	c.(316-318)acC>acA	p.T106T	CUL4B_ENST00000336592.6_Silent_p.T111T|CUL4B_ENST00000404115.3_Silent_p.T124T	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	124	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.T106T(1)|p.T124T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAACTCCAGGGTGTCTTCAA	0.537000													17	77					3.51602e-12	4.93273e-12	0.049695	1	0
CLSTN2	64084	broad.mit.edu	37	3	140277558	140277558	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:140277558C>A	ENST00000458420.3	+	12	2090	c.1900C>A	c.(1900-1902)Cgg>Agg	p.R634R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	634					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.R634R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CATCGAGCCCCGGATCACCCT	0.557000										HNSCC(16;0.037)			19	59					1.2644e-06	1.50627e-06	0.055883	1	0
CHST2	9435	broad.mit.edu	37	3	142840944	142840944	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:142840944T>A	ENST00000309575.3	+	2	2670	c.1286T>A	c.(1285-1287)gTg>gAg	p.V429E		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	429					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.V429E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGGACCTGGTGGGAGACCCC	0.587000													19	21					0	0	0.055883	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057199	95057199	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:95057199G>T	ENST00000329597.7	+	5	1214	c.1004G>T	c.(1003-1005)gGc>gTc	p.G335V	SERPINA5_ENST00000554866.1_Missense_Mutation_p.G335V|SERPINA5_ENST00000554276.1_Missense_Mutation_p.G335V|SERPINA5_ENST00000553780.1_Missense_Mutation_p.G335V	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	335				G -> R (in Ref. 1; AAA35688 and 9; AAB26244).	fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.G335V(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GATCTGTCCGGCATCAGCAAC	0.488000													83	51					1.84514e-49	3.62405e-49	0.048971	1	0
CCDC93	54520	broad.mit.edu	37	2	118698795	118698795	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:118698795G>C	ENST00000376300.2	-	19	1629	c.1492C>G	c.(1492-1494)Cag>Gag	p.Q498E	CCDC93_ENST00000319432.5_Missense_Mutation_p.Q497E	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	498								p.Q498E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AATCTCTTCTGATACTGTATT	0.478000													40	79					0	0	0.045515	0	0
COL15A1	1306	broad.mit.edu	37	9	101797398	101797398	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:101797398C>A	ENST00000375001.3	+	18	2605	c.2182C>A	c.(2182-2184)Ccc>Acc	p.P728T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	728	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.P728T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACCCCCTGGGCCCCCAGGCCC	0.572000													15	43					4.7546e-09	6.11078e-09	0.028581	1	0
CNTN1	1272	broad.mit.edu	37	12	41337488	41337488	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:41337488G>T	ENST00000551295.2	+	13	1586	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I	CNTN1_ENST00000547849.1_Missense_Mutation_p.R490I|CNTN1_ENST00000547702.1_Missense_Mutation_p.R490I|CNTN1_ENST00000348761.2_Missense_Mutation_p.R479I|CNTN1_ENST00000360099.3_Missense_Mutation_p.R490I|CNTN1_ENST00000347616.1_Missense_Mutation_p.R490I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	490	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.R490I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAAAATAACAGAGGGAAAGCT	0.348000													24	61					4.26978e-12	5.95747e-12	0.083992	1	0
POTEH	23784	broad.mit.edu	37	22	16287715	16287715	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:16287715G>T	ENST00000343518.6	-	1	222	c.171C>A	c.(169-171)ctC>ctA	p.L57L		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	57								p.L57L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCTTGCTCCTGAGTGTCTTCA	0.612000													80	534					3.17147e-52	6.32642e-52	0.048971	1	0
NOS1	4842	broad.mit.edu	37	12	117681107	117681107	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:117681107G>T	ENST00000317775.6	-	19	3642	c.2957C>A	c.(2956-2958)aCa>aAa	p.T986K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.T1020K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	986					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.T986K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTACCTTGTGTGAGTTCTGG	0.517000													34	40					3.33393e-15	4.96847e-15	0.074837	1	0
C7orf63	79846	broad.mit.edu	37	7	89900854	89900854	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:89900854A>T	ENST00000389297.4	+	7	798	c.547A>T	c.(547-549)Agt>Tgt	p.S183C	C7orf63_ENST00000316089.8_Missense_Mutation_p.S183C|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Missense_Mutation_p.S165C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	183							binding	p.S183C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CCAGCAAGCGAGTTCATCATA	0.323000													25	53					0	0	0.108266	0	0
ZP4	57829	broad.mit.edu	37	1	238053432	238053432	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:238053432C>A	ENST00000366570.4	-	2	378	c.220G>T	c.(220-222)Ggc>Tgc	p.G74C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	74					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.G74C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATCCAGGTGCCACAGTCGGAG	0.562000													17	65					5.35267e-07	6.45692e-07	0.043863	1	0
MAGEB10	139422	broad.mit.edu	37	X	27839829	27839829	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:27839829G>T	ENST00000356790.2	+	3	651	c.406G>T	c.(406-408)Gat>Tat	p.D136Y		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	136	MAGE.							p.D136Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TACAAAGGCAGATATGCTGAG	0.443000													37	73					1.59932e-28	2.87578e-28	0.098360	1	0
CRYBB2	1415	broad.mit.edu	37	22	25627657	25627657	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:25627657C>A	ENST00000398215.2	+	6	707	c.536C>A	c.(535-537)gCc>gAc	p.A179D		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	179	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens	p.A179D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GACTTTGGGGCCCCTCACCCC	0.652000													39	63					2.26627e-22	3.88359e-22	0.098360	1	0
MMP2	4313	broad.mit.edu	37	16	55519237	55519237	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:55519237G>C	ENST00000219070.4	+	4	1065	c.556G>C	c.(556-558)Ggt>Cgt	p.G186R	MMP2_ENST00000437642.2_Missense_Mutation_p.G136R|MMP2_ENST00000543485.1_Missense_Mutation_p.G110R|MMP2_ENST00000570308.1_Missense_Mutation_p.G110R	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	186	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.G186fs*16(1)|p.G186R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CCCCTTTGACGGTAAGGACGG	0.562000													33	61					0	0	0.064281	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136851	40136851	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:40136851T>C	ENST00000278198.2	-	2	2955	c.992A>G	c.(991-993)aAc>aGc	p.N331S	LRRC4C_ENST00000530763.1_Missense_Mutation_p.N331S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N331S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N331S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	331	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.N331S(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGAGGAGTGTTACACCGGGC	0.507000													17	19					0	0	0.028581	0	0
GRPR	2925	broad.mit.edu	37	X	16142118	16142118	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:16142118C>A	ENST00000380289.2	+	1	440	c.42C>A	c.(40-42)gaC>gaA	p.D14E		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	14					cell proliferation	integral to plasma membrane	bombesin receptor activity	p.D14E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TGGAGGTGGACCATTTCATGC	0.453000											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	134	272					1.0049e-60	2.02035e-60	0.048971	1	0
SIGLEC6	946	broad.mit.edu	37	19	52023450	52023450	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:52023450G>T	ENST00000346477.3	-	7	1268	c.1200C>A	c.(1198-1200)ccC>ccA	p.P400P	SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000436458.1_Silent_p.P364P|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000425629.3_Silent_p.P416P	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	416					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.P389P(1)|p.P416P(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTTCTGAGATGGGGCCAGCCT	0.507000													93	183					6.84326e-50	1.35101e-49	0.048971	1	0
PALLD	23022	broad.mit.edu	37	4	169632955	169632955	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:169632955C>T	ENST00000335742.7	+	10	2056	c.699C>T	c.(697-699)ccC>ccT	p.P233P	PALLD_ENST00000512127.1_Silent_p.P233P|PALLD_ENST00000261509.6_Silent_p.P615P|PALLD_ENST00000505667.1_Silent_p.P615P			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	615					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.P615P(1)|p.P233P(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAGTCCATCCCAGCCGTGGAG	0.512000									Pancreatic Cancer, Familial Clustering of				15	39					0	0	0.020292	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878763	79878763	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:79878763G>T	ENST00000466387.1	+	6	805	c.81G>T	c.(79-81)ctG>ctT	p.L27L	CTNNA2_ENST00000496558.1_Silent_p.L27L|CTNNA2_ENST00000361291.4_Silent_p.L61L|CTNNA2_ENST00000409266.1_Silent_p.L27L|CTNNA2_ENST00000402739.4_Silent_p.L27L|CTNNA2_ENST00000540488.1_Silent_p.L27L|CTNNA2_ENST00000541047.1_Silent_p.L27L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	27					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.L27L(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGAAAGGCTGTTGGAGCCAC	0.423000													32	36					1.26612e-14	1.84733e-14	0.059317	1	0
RAB33A	9363	broad.mit.edu	37	X	129318489	129318489	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:129318489C>A	ENST00000257017.4	+	2	903	c.489C>A	c.(487-489)tcC>tcA	p.S163S		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	163					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.S163S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						AGGTGCCCTCCAACTTAGCCC	0.517000													15	49					6.31663e-08	7.84204e-08	0.024245	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68938049	68938049	+	Missense_Mutation	SNP	C	C	G	rs150716612	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:68938049C>G	ENST00000356291.2	-	5	565	c.506G>C	c.(505-507)aGa>aCa	p.R169T	RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	169	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R169T(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACGTGTGAGTCTAAATGATGG	0.284000													28	17					0	0	0.041601	0	0
DGKI	9162	broad.mit.edu	37	7	137341270	137341270	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:137341270C>A	ENST00000453654.1	-	0	262				DGKI_ENST00000446122.1_Missense_Mutation_p.R208M|DGKI_ENST00000424189.2_Missense_Mutation_p.R208M|DGKI_ENST00000288490.5_Missense_Mutation_p.R208M			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R208M(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGCACACTTCCTCCTGAGAGC	0.418000											OREG0018350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	85	121					2.88734e-31	5.30384e-31	0.048971	1	0
ABCB1	5243	broad.mit.edu	37	7	87135292	87135292	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:87135292A>G	ENST00000265724.3	-	28	3974	c.3557T>C	c.(3556-3558)aTa>aCa	p.I1186T	ABCB1_ENST00000543898.1_Missense_Mutation_p.I1122T|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1186	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.I1186T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGCACGAGCTATGGCAATGCG	0.403000													41	84					0	0	0.111260	0	0
ZNF223	7766	broad.mit.edu	37	19	44570525	44570525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:44570525G>T	ENST00000591793.1	+	7	957	c.874G>T	c.(874-876)Gga>Tga	p.G292*	ZNF223_ENST00000434772.3_Nonsense_Mutation_p.G182*			Q9UK11	ZN223_HUMAN	zinc finger protein 223	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G182*(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGATGAGTGTGGAAAAAGCTT	0.428000													65	168					4.96364e-44	9.6257e-44	0.048971	1	0
TRPC3	7222	broad.mit.edu	37	4	122853835	122853835	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:122853835G>A	ENST00000264811.5	-	1	777	c.359C>T	c.(358-360)gCc>gTc	p.A120V	TRPC3_ENST00000513531.1_Missense_Mutation_p.A120V|TRPC3_ENST00000379645.3_Missense_Mutation_p.A193V	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	108					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.A120V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTTGAGGATGGCCTCTACGAT	0.632000													23	11					0	0	0.062417	0	0
PSG9	5678	broad.mit.edu	37	19	43763045	43763045	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:43763045C>A	ENST00000418820.2	-	3	771	c.673G>T	c.(673-675)Ggc>Tgc	p.G225C	PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.G225C|PSG9_ENST00000270077.3_Missense_Mutation_p.G318C			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	225	Ig-like C2-type 1.				female pregnancy	extracellular region		p.G318C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CTGCGGAGGCCACCATATCGG	0.493000													64	105					6.20203e-27	1.09717e-26	0.048971	1	0
OR4C46	119749	broad.mit.edu	37	11	51515433	51515433	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:51515433C>A	ENST00000328188.1	+	1	152	c.152C>A	c.(151-153)cCa>cAa	p.P51Q		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P51Q(2)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ACTGCCAGCCCATCACTGGGG	0.448000													86	107					1.55023e-36	2.93205e-36	0.048971	1	0
SPTBN2	6712	broad.mit.edu	37	11	66472300	66472300	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:66472300G>T	ENST00000533211.1	-	15	2778	c.2447C>A	c.(2446-2448)aCa>aAa	p.T816K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.T816K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T816K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	816					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.T816K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCGGCTCAGTGTGGGGGGCAG	0.716000													13	19					0.00010058	0.0001133	0.093190	1	0
POTEE	445582	broad.mit.edu	37	2	131984447	131984447	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:131984447G>A	ENST00000356920.5	+	4	956	c.862G>A	c.(862-864)Gtg>Atg	p.V288M	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.V298M	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	288							ATP binding	p.V288M(1)|p.V298M(1)									ACAGCAAGTCGTGAAATTTTT	0.333000													29	129					0	0	0.086207	0	0
SNTG1	54212	broad.mit.edu	37	8	51664619	51664619	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:51664619G>C	ENST00000522124.1	+	18	2004	c.1343G>C	c.(1342-1344)aGc>aCc	p.S448T	SNTG1_ENST00000518864.1_Missense_Mutation_p.S448T|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000276467.5_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	448					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.S448T(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GATGGCAAGAGCAAAATCAAA	0.358000													17	157					0	0	0.055883	0	0
OR2B11	127623	broad.mit.edu	37	1	247614730	247614730	+	Silent	SNP	C	C	A	rs140643495		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:247614730C>A	ENST00000318749.6	-	1	578	c.555G>T	c.(553-555)gtG>gtT	p.V185V		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V185V(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCACGGCCGGCACCTCACAGA	0.592000													6	12					0.0293803	0.030495	0.029380	1	0
TMTC1	83857	broad.mit.edu	37	12	29669326	29669326	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:29669326G>T	ENST00000256062.5	-	15	2412	c.1939C>A	c.(1939-1941)Cgc>Agc	p.R647S	TMTC1_ENST00000551659.1_Missense_Mutation_p.R817S|TMTC1_ENST00000552618.1_Missense_Mutation_p.R779S|TMTC1_ENST00000539277.1_Missense_Mutation_p.R755S|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	755						integral to membrane	binding	p.R647S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GACAAGAGGCGATAGCATTCA	0.453000													31	72					2.70662e-09	3.51998e-09	0.041601	1	0
HOXD10	3236	broad.mit.edu	37	2	176982209	176982209	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:176982209G>A	ENST00000249501.4	+	1	903	c.648G>A	c.(646-648)gtG>gtA	p.V216V	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	216						nucleus	sequence-specific DNA binding	p.V216V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TCTCCCAGGTGGAGAGCCCCG	0.642000													3	26					0	0	0.004672	0	0
STAM	8027	broad.mit.edu	37	10	17737165	17737165	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:17737165T>A	ENST00000377524.3	+	7	868	c.653T>A	c.(652-654)aTa>aAa	p.I218K	STAM_ENST00000540523.1_Missense_Mutation_p.I107K	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	218	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	p.I218N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTTCGTGCTATATATGACTTT	0.368000													44	67					0	0	0.042209	0	0
FAM189B	10712	broad.mit.edu	37	1	155220391	155220391	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:155220391G>A	ENST00000361361.2	-	9	1695	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S	FAM189B_ENST00000350210.2_Missense_Mutation_p.P300S|FAM189B_ENST00000368368.3_Missense_Mutation_p.P378S	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	396						integral to membrane	WW domain binding	p.P396S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCAGCCCGTGGGGGGCGCCGT	0.716000													8	15					0	0	0.069234	0	0
B4GALT5	9334	broad.mit.edu	37	20	48263586	48263586	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:48263586T>A	ENST00000371711.4	-	3	467	c.280A>T	c.(280-282)Acc>Tcc	p.T94S		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	94					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	p.T94S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TGCAGGAAGGTTTCACTGTGG	0.443000													31	157					0	0	0.050027	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908066	12908066	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:12908066A>G	ENST00000317869.6	-	2	302	c.77T>C	c.(76-78)cTt>cCt	p.L26P		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.L26P(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTTGACAACAAGAGTGTTGAG	0.448000													4	208					0	0	0.029380	0	0
PJA1	64219	broad.mit.edu	37	X	68381543	68381543	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:68381543G>A	ENST00000361478.1	-	2	1916	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	PJA1_ENST00000374571.4_Silent_p.L458L|PJA1_ENST00000374583.1_Silent_p.L513L|PJA1_ENST00000374584.3_Silent_p.L325L	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	513							zinc ion binding	p.L325L(1)|p.L513L(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATCCATCAAAGAGGCTCCAAT	0.507000													26	117					0	0	0.083992	0	0
KIF14	9928	broad.mit.edu	37	1	200587437	200587437	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:200587437C>A	ENST00000367350.4	-	2	853	c.415G>T	c.(415-417)Gat>Tat	p.D139Y		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	139	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.D139Y(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTGACAGAATCTATTTCAGCT	0.348000													38	68					1.60099e-16	2.46256e-16	0.074837	1	0
IPO8	10526	broad.mit.edu	37	12	30816432	30816432	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:30816432G>C	ENST00000256079.4	-	14	1923	c.1585C>G	c.(1585-1587)Cag>Gag	p.Q529E	IPO8_ENST00000544829.1_Missense_Mutation_p.Q324E	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	529					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.Q529E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTTGTATCTGGTTAGAAATT	0.378000													6	68					0	0	0.021553	0	0
SPAG17	200162	broad.mit.edu	37	1	118550797	118550797	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:118550797C>T	ENST00000336338.5	-	31	4522	c.4457G>A	c.(4456-4458)aGg>aAg	p.R1486K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1486						cilium|flagellar axoneme|microtubule		p.R1486K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCACCTGCCTGGTGACAGT	0.498000													10	26					0	0	0.069234	0	0
IPO5	3843	broad.mit.edu	37	13	98658478	98658478	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:98658478A>T	ENST00000261574.5	+	17	1826	c.1646A>T	c.(1645-1647)tAt>tTt	p.Y549F	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.Y406F|IPO5_ENST00000490680.1_Missense_Mutation_p.Y531F	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	531			E -> K (in dbSNP:rs484770).		interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	p.Y549F(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTCCCCTACTATGATTTATTT	0.388000													43	163					0	0	0.039052	0	0
JPH1	56704	broad.mit.edu	37	8	75227183	75227183	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:75227183T>A	ENST00000342232.4	-	2	1092	c.1052A>T	c.(1051-1053)aAa>aTa	p.K351I		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	351					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.K351I(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTCCCTAGTTTTTGTATGTCT	0.438000													45	201					0	0	0.048971	0	0
ABCA11P	79963	broad.mit.edu	37	4	420484	420484	+	RNA	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:420484T>C	ENST00000451020.2	-	0	554					NR_002451.2																						AACTTCACTTTTTAACACAAA	0.393000													24	48					0	0	0.076483	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	60					0	0	0.014758	0	0
C7orf34	135927	broad.mit.edu	37	7	142637544	142637544	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:142637544C>A	ENST00000409607.3	+	2	355	c.314C>A	c.(313-315)aCg>aAg	p.T105K		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	80						extracellular region		p.T105K(1)|p.T80K(1)		large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					TCGTCCAAGACGGCAGCTGTT	0.532000													43	80					5.44703e-19	8.72892e-19	0.111260	1	0
HCFC1	3054	broad.mit.edu	37	X	153222985	153222985	+	Splice_Site	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153222985C>T	ENST00000310441.7	-	13	3100		c.e13-1		HCFC1_ENST00000369984.4_Splice_Site|HCFC1_ENST00000354233.3_Splice_Site	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)						cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.?(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTTTGGTCTGAAAGGGGG	0.627000													31	31					0	0	0.034045	0	0
TNR	7143	broad.mit.edu	37	1	175375584	175375584	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:175375584C>T	ENST00000367674.1	-	3	975	c.267G>A	c.(265-267)caG>caA	p.Q89Q	TNR_ENST00000263525.2_Silent_p.Q89Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	89					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.Q89Q(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACTCACCTCCTGCTCAGCAG	0.547000													46	46					0	0	0.042209	0	0
PNP	4860	broad.mit.edu	37	14	20943064	20943064	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:20943064G>T	ENST00000361505.5	+	4	564	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	140					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	p.G140C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CAACCTACCTGGTTTCAGTGG	0.483000													32	93					2.09667e-21	3.52977e-21	0.064281	1	0
RAD54L2	23132	broad.mit.edu	37	3	51679122	51679122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:51679122C>T	ENST00000409535.1	+	16	2658	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.Q539*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	845	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity	p.Q845*(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCATGATGCCCAGGCAGTATG	0.488000													21	48					0	0	0.055883	0	0
SLAMF7	57823	broad.mit.edu	37	1	160709145	160709145	+	Splice_Site	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:160709145A>T	ENST00000368043.3	+	1	91	c.55_splice	c.e1+1	p.T18_splice	SLAMF7_ENST00000441662.2_Splice_Site_p.T18_splice|SLAMF7_ENST00000444090.2_Splice_Site_p.T18_splice|SLAMF7_ENST00000368042.3_Splice_Site_p.T18_splice|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000458104.2_Splice_Site_p.T18_splice|SLAMF7_ENST00000458602.2_Splice_Site_p.T18_splice|SLAMF7_ENST00000359331.4_Splice_Site_p.T18_splice	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	18					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	p.T18T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCAGCTCACAGGTGAGTCCG	0.532000													48	65					0	0	0.048971	0	0
MAGED1	9500	broad.mit.edu	37	X	51641678	51641678	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:51641678G>T	ENST00000375695.2	+	11	2104	c.1949_splice	c.e11-1	p.V651_splice	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Splice_Site_p.V595_splice|MAGED1_ENST00000375772.3_Splice_Site_p.V595_splice|MAGED1_ENST00000326587.7_Splice_Site_p.V595_splice	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	595	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	p.V651L(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TACCTTCAGGGTGAGACATCC	0.443000										Multiple Myeloma(10;0.10)			4	41					0.00909568	0.00957045	0.009096	1	0
TCL1A	8115	broad.mit.edu	37	14	96178706	96178706	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:96178706G>A	ENST00000402399.1	-	2	277	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	TCL1A_ENST00000554012.1_Missense_Mutation_p.L50F|TCL1A_ENST00000556450.1_Missense_Mutation_p.L50F|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.L50F|RP11-164H13.1_ENST00000547644.2_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	50					multicellular organismal development	endoplasmic reticulum|microsome		p.L50F(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CGACGCAAGAGCACCCGTAAC	0.572000			T	TRA@	T-CLL								17	135					0	0	0.038395	0	0
XIRP2	129446	broad.mit.edu	37	2	168101499	168101499	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:168101499C>A	ENST00000409195.1	+	9	3686	c.3597C>A	c.(3595-3597)agC>agA	p.S1199R	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S977R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1199R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1024					actin cytoskeleton organization	cell junction	actin binding	p.S1199R(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGTTTCCAGCATGAGGTATA	0.333000													23	31					2.70639e-06	3.17473e-06	0.069288	1	0
SLC10A3	8273	broad.mit.edu	37	X	153716929	153716929	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153716929G>T	ENST00000263512.4	-	2	849	c.351C>A	c.(349-351)atC>atA	p.I117I	SLC10A3_ENST00000393586.1_Silent_p.I172I|SLC10A3_ENST00000393587.4_Silent_p.I117I|SLC10A3_ENST00000369649.4_Silent_p.I117I	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	117					organic anion transport	integral to membrane	bile acid:sodium symporter activity	p.I117I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACGTTCTTGATGGTCAGCA	0.637000													4	143					2.56e-06	3.00761e-06	0.009096	1	0
KL	9365	broad.mit.edu	37	13	33635064	33635064	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:33635064G>A	ENST00000380099.3	+	4	1856	c.1848G>A	c.(1846-1848)ctG>ctA	p.L616L	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	616	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.L616L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACACCATCCTGCAGTACTATC	0.587000													13	65					0	0	0.028581	0	0
FGF13	2258	broad.mit.edu	37	X	137939714	137939714	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:137939714C>A	ENST00000441825.2	-	1	127	c.90G>T	c.(88-90)ccG>ccT	p.P30P	FGF13_ENST00000370603.3_Silent_p.P59P|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	198					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.P59P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTGCTTCAGCGGGCAGCAGA	0.433000													60	124					9.68594e-22	1.64147e-21	0.048971	1	0
AFF2	2334	broad.mit.edu	37	X	148072807	148072807	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:148072807T>A	ENST00000370460.2	+	21	4360	c.3881T>A	c.(3880-3882)gTc>gAc	p.V1294D	AFF2_ENST00000342251.3_Missense_Mutation_p.V1261D|AFF2_ENST00000370457.5_Missense_Mutation_p.V1259D|AFF2_ENST00000286437.5_Missense_Mutation_p.V935D	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1294					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.V1294D(2)|p.V935D(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAATCTTGTCCGCTACGTT	0.522000													93	136					0	0	0.048971	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931676	102931676	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:102931676C>A	ENST00000423833.2	-	3	1505	c.280G>T	c.(280-282)Gca>Tca	p.A94S	MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.A94S|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000441076.2_Missense_Mutation_p.A94S|MORF4L2_ENST00000433176.2_Missense_Mutation_p.A94S|MORF4L2_ENST00000360458.1_Missense_Mutation_p.A94S|MORF4L2_ENST00000422154.2_Missense_Mutation_p.A94S			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	94					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	p.A94S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GGCTGAGGTGCTTCGCTGGTA	0.537000													11	174					3.86212e-05	4.4155e-05	0.069234	1	0
ATM	472	broad.mit.edu	37	11	108183154	108183154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:108183154G>T	ENST00000278616.4	+	40	6320	c.5935G>T	c.(5935-5937)Gaa>Taa	p.E1979*	ATM_ENST00000452508.2_Nonsense_Mutation_p.E1979*|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1979	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E1979*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGCATTTGAAGAAGGAAGCCA	0.318000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			17	80					2.54575e-18	4.01243e-18	0.055883	1	0
RENBP	5973	broad.mit.edu	37	X	153209095	153209095	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153209095C>T	ENST00000393700.3	-	5	445	c.365G>A	c.(364-366)gGc>gAc	p.G122D	RENBP_ENST00000369997.3_Missense_Mutation_p.G108D|RENBP_ENST00000412763.1_Missense_Mutation_p.G122D	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	122					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	p.G112D(1)|p.G122D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GACCGGGCGGCCGTCCCGAGT	0.612000													4	109					0	0	0.009096	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953809	161953809	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:161953809C>A	ENST00000294794.3	-	8	2332	c.1909G>T	c.(1909-1911)Gac>Tac	p.D637Y	OLFML2B_ENST00000367940.2_Missense_Mutation_p.D638Y|OLFML2B_ENST00000367938.1_Missense_Mutation_p.D120Y	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	637	Olfactomedin-like.							p.D637Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCCTCATCGTCCAGGGCCGGG	0.637000													9	36					3.86212e-05	4.4155e-05	0.069234	1	0
SNRNP200	23020	broad.mit.edu	37	2	96945230	96945230	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:96945230C>A	ENST00000323853.5	-	36	5169	c.5092G>T	c.(5092-5094)Gat>Tat	p.D1698Y	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1698	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.D1698Y(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CGCCCCTCATCGTCCTGCAAA	0.532000													9	16					7.48243e-07	8.96955e-07	0.058154	1	0
ITPR1	3708	broad.mit.edu	37	3	4695532	4695532	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:4695532C>T	ENST00000354582.6	+	12	1308	c.958C>T	c.(958-960)Cct>Tct	p.P320S	ITPR1_ENST00000302640.8_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.P320S|ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.P320S|ITPR1_ENST00000423119.2_Missense_Mutation_p.P320S|ITPR1_ENST00000443694.2_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	320	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.P320S(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCAGGTAGACCCTGACTTTGA	0.468000													9	11					0	0	0.058154	0	0
IL12RB2	3595	broad.mit.edu	37	1	67804386	67804386	+	Splice_Site	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:67804386G>A	ENST00000262345.1	+	8	1678	c.1038_splice	c.e8+1	p.K346_splice	IL12RB2_ENST00000544434.1_Splice_Site_p.K346_splice|IL12RB2_ENST00000371000.1_Splice_Site_p.K346_splice|IL12RB2_ENST00000541374.1_Splice_Site_p.K346_splice	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	346	Fibronectin type-III 3.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.K346K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTTTCTGGAAGGTGAGTTTTA	0.368000													18	53					0	0	0.043863	0	0
COL1A2	1278	broad.mit.edu	37	7	94054961	94054961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:94054961C>T	ENST00000297268.6	+	43	3292	c.2821C>T	c.(2821-2823)Caa>Taa	p.Q941*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	941					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.Q941*(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCGCGATGGTCAACCCGGACA	0.483000										HNSCC(75;0.22)			21	38					0	0	0.076483	0	0
NAV3	89795	broad.mit.edu	37	12	78579461	78579461	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:78579461G>T	ENST00000397909.2	+	31	5946	c.5773G>T	c.(5773-5775)Ggc>Tgc	p.G1925C	NAV3_ENST00000228327.6_Missense_Mutation_p.G1903C|NAV3_ENST00000266692.7_Missense_Mutation_p.G1726C|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.G1903C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1925						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.G1903C(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATAAGCAAGGGCTATGGTCG	0.333000										HNSCC(70;0.22)			12	28					2.27111e-07	2.77459e-07	0.093190	1	0
JPH1	56704	broad.mit.edu	37	8	75227185	75227185	+	Silent	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:75227185T>G	ENST00000342232.4	-	2	1090	c.1050A>C	c.(1048-1050)acA>acC	p.T350T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	350					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.T350T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCCTAGTTTTTGTATGTCTTA	0.443000													43	200					0	0	0.048971	0	0
ADGRG6	57211	broad.mit.edu	37	6	142725021	142725021	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:142725021G>C	ENST00000230173.6	+	14	2514	c.2038G>C	c.(2038-2040)Gct>Cct	p.A680P	GPR126_ENST00000296932.8_Missense_Mutation_p.A652P|GPR126_ENST00000367609.3_Missense_Mutation_p.A680P|GPR126_ENST00000367608.2_Missense_Mutation_p.A652P	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	680					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A680P(1)|p.A651P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCGGAACTTGGCTCTCAGCGT	0.368000													30	52					0	0	0.045705	0	0
TRPM2	7226	broad.mit.edu	37	21	45815319	45815319	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:45815319C>A	ENST00000397928.1	+	12	2262	c.1817C>A	c.(1816-1818)tCc>tAc	p.S606Y	TRPM2_ENST00000397932.2_Missense_Mutation_p.S606Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.S586Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.S606Y	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	606						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.S606*(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGCCTCCGGTCCCTCTACAAG	0.627000													12	80					4.3838e-07	5.31328e-07	0.105934	1	0
PPM1L	151742	broad.mit.edu	37	3	160783208	160783208	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:160783208G>T	ENST00000498165.1	+	3	693	c.592G>T	c.(592-594)Gct>Tct	p.A198S	PPM1L_ENST00000464260.1_Missense_Mutation_p.A19S|PPM1L_ENST00000295839.9_Missense_Mutation_p.A71S|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	198	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.A198S(1)|p.A19S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GTGTTTGATTGCTCTGCTATC	0.488000													24	72					7.92952e-12	1.10437e-11	0.091800	1	0
MCF2L2	23101	broad.mit.edu	37	3	182947468	182947468	+	Nonsense_Mutation	SNP	G	G	T	rs149684646	by1000genomes	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:182947468G>T	ENST00000328913.3	-	17	2328	c.2031C>A	c.(2029-2031)taC>taA	p.Y677*	MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.Y677*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.Y677*	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	677	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.Y677*(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGTGAAATTCGTAAAGTTCTC	0.333000													41	71					1.22674e-20	2.03395e-20	0.104719	1	0
RIPK1	8737	broad.mit.edu	37	6	3105766	3105766	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:3105766C>G	ENST00000259808.4	+	9	1355	c.1057C>G	c.(1057-1059)Cct>Gct	p.P353A	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.P307A|RIPK1_ENST00000380409.2_Missense_Mutation_p.P353A			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	353	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	p.P353A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGGGATGGGTCCTGTGGAGGA	0.498000													6	299					0	0	0.021553	0	0
MXRA5	25878	broad.mit.edu	37	X	3228241	3228241	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:3228241C>G	ENST00000217939.6	-	7	8157	c.8003G>C	c.(8002-8004)cGt>cCt	p.R2668P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2668	Ig-like C2-type 11.					extracellular region		p.R2668P(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCAGGAGAAACGTCCCTGCCC	0.597000													30	62					0	0	0.045705	0	0
TLR7	51284	broad.mit.edu	37	X	12905272	12905272	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:12905272T>A	ENST00000380659.3	+	3	1784	c.1645T>A	c.(1645-1647)Ttc>Atc	p.F549I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	549					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.F549I(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATATTTGGACTTCTCCAACAA	0.388000													213	381					0	0	0.048971	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1895226	1895226	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:1895226G>T	ENST00000357103.4	+	8	1400	c.1149G>T	c.(1147-1149)gaG>gaT	p.E383D		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	383					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	p.E383D(1)		endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GCAGTGAAGAGGATGCACTGT	0.537000													27	65					1.42536e-11	1.9708e-11	0.099896	1	0
HIVEP3	59269	broad.mit.edu	37	1	42047134	42047134	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:42047134C>G	ENST00000372584.1	-	3	4349	c.3335G>C	c.(3334-3336)gGg>gCg	p.G1112A	HIVEP3_ENST00000247584.5_Missense_Mutation_p.G1112A|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G1112A|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G1112A	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1112					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G1112A(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACAGTGGGCCCCAATGGGGG	0.632000													15	77					0	0	0.020292	0	0
GPR12	2835	broad.mit.edu	37	13	27333098	27333098	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:27333098G>T	ENST00000405846.3	-	2	1088	c.867C>A	c.(865-867)ccC>ccA	p.P289P	GPR12_ENST00000381436.2_Silent_p.P289P	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	289						integral to plasma membrane		p.P289P(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGTAGGTGGCGGGCAGGAGGG	0.522000													26	24					1.5548e-18	2.4607e-18	0.108266	1	0
CD72	971	broad.mit.edu	37	9	35618283	35618283	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:35618283G>T	ENST00000396757.1	-	2	182	c.18C>A	c.(16-18)acC>acA	p.T6T	CD72_ENST00000259633.4_Silent_p.T6T|CD72_ENST00000378430.3_Silent_p.T6T|CD72_ENST00000378431.1_Silent_p.T6T|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	6					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	p.T6T(1)		large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATCTGCATAGGTGATGGCCT	0.582000													21	15					3.8784e-16	5.92986e-16	0.062417	1	0
GRIN2B	2904	broad.mit.edu	37	12	13724849	13724849	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:13724849G>T	ENST00000279593.3	-	10	2269	c.2060C>A	c.(2059-2061)cCc>cAc	p.P687H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	687					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P687H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTGCCGTTGGGCACGGTCCC	0.502000													13	36					1.61879e-10	2.17543e-10	0.093190	1	0
PCLO	27445	broad.mit.edu	37	7	82579765	82579765	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:82579765C>A	ENST00000423517.2	-	6	10476	c.10139G>T	c.(10138-10140)gGt>gTt	p.G3380V	PCLO_ENST00000437081.1_Missense_Mutation_p.G100V|PCLO_ENST00000333891.8_Missense_Mutation_p.G3380V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3311					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G3380V(2)|p.G3311V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGAGTAACACCATCAGACTG	0.438000													16	35					8.60227e-14	1.24327e-13	0.028581	1	0
ZNF423	23090	broad.mit.edu	37	16	49670060	49670060	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:49670060C>G	ENST00000561648.1	-	4	3056	c.3003G>C	c.(3001-3003)gaG>gaC	p.E1001D	ZNF423_ENST00000535559.1_Missense_Mutation_p.E884D|ZNF423_ENST00000567169.1_Missense_Mutation_p.E884D|ZNF423_ENST00000562871.1_Missense_Mutation_p.E941D|ZNF423_ENST00000563137.2_Missense_Mutation_p.E941D|ZNF423_ENST00000562520.1_Missense_Mutation_p.E941D|ZNF423_ENST00000262383.2_Missense_Mutation_p.E1001D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1001					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E1001D(2)		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)				CAATAAACTCCTCCTCGCTCT	0.597000													4	18					0	0	0.014758	0	0
F8	2157	broad.mit.edu	37	X	154225253	154225253	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:154225253G>A	ENST00000360256.4	-	3	583	c.383C>T	c.(382-384)tCt>tTt	p.S128F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	128	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.S128F(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTCACCCTCAGAAGCTTTCCA	0.423000													100	168					0	0	0.048971	0	0
FAM9B	171483	broad.mit.edu	37	X	9001045	9001045	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:9001045G>T	ENST00000362066.3	-	1	306	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	FAM9B_ENST00000428477.1_5'UTR|FAM9B_ENST00000327220.5_5'UTR			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	0						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				GCCTCCAACTGGGCCTTGGCA	0.597000													16	33					1.02788e-11	1.42896e-11	0.033300	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101834447	101834447	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:101834447C>A	ENST00000506729.1	-	1	273	c.102G>T	c.(100-102)agG>agT	p.R34S	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R34S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R34S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R34S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R34S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	34						integral to membrane|plasma membrane	transporter activity	p.R34S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCCCTTGGCCCTCCTGTCCT	0.607000													53	181					3.28156e-27	5.85937e-27	0.048971	1	0
LRRC15	131578	broad.mit.edu	37	3	194080236	194080236	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:194080236C>T	ENST00000347624.3	-	2	1622	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	LRRC15_ENST00000428839.1_Missense_Mutation_p.E519K|LRRC15_ENST00000439944.2_Missense_Mutation_p.E519K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	513						integral to membrane		p.E513I(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GTGTAGTCTTCCACAGGGCTG	0.557000													20	38					0	0	0.055883	0	0
DHRS9	10170	broad.mit.edu	37	2	169938082	169938082	+	Translation_Start_Site	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:169938082A>T	ENST00000327239.4	+	0	1495				DHRS9_ENST00000432060.2_Silent_p.T57T|DHRS9_ENST00000436483.2_De_novo_Start_OutOfFrame|DHRS9_ENST00000421653.1_Intron|DHRS9_ENST00000412271.1_De_novo_Start_OutOfFrame|DHRS9_ENST00000428522.1_De_novo_Start_OutOfFrame|DHRS9_ENST00000357546.2_De_novo_Start_OutOfFrame|DHRS9_ENST00000602501.1_De_novo_Start_OutOfFrame	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9						9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TATCACACACAGGGGGAAAAA	0.388000													30	51					0	0	0.037714	0	0
EDAR	10913	broad.mit.edu	37	2	109545663	109545663	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:109545663C>T	ENST00000409271.1	-	5	790	c.347G>A	c.(346-348)tGc>tAc	p.C116Y	EDAR_ENST00000376651.1_Missense_Mutation_p.C116Y|EDAR_ENST00000258443.2_Missense_Mutation_p.C116Y			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	116					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	p.C116Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CCCAGGGAGGCAAGGGCCACA	0.607000													8	26					0	0	0.069234	0	0
KLHL1	57626	broad.mit.edu	37	13	70456619	70456619	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:70456619T>A	ENST00000377844.4	-	5	1782	c.1023A>T	c.(1021-1023)atA>atT	p.I341I	KLHL1_ENST00000545028.1_Silent_p.I148I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	341					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.I341I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TAACTTCCATTATGTTTTCCT	0.358000													4	27					0	0	0.014758	0	0
CTCFL	140690	broad.mit.edu	37	20	56098871	56098871	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:56098871G>T	ENST00000426658.2	-	1	1052	c.391C>A	c.(391-393)Cag>Aag	p.Q131K	CTCFL_ENST00000429804.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000423479.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000371196.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000422869.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000433949.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422109.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000243914.3_Missense_Mutation_p.Q131K|CTCFL_ENST00000432255.2_Missense_Mutation_p.Q131K			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	131					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.Q131K(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACACACTGCTGCAGGCTCTGC	0.592000													17	119					5.03518e-11	6.88741e-11	0.043863	1	0
USP4	7375	broad.mit.edu	37	3	49343230	49343230	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:49343230C>A	ENST00000351842.4	-	8	913	c.905G>T	c.(904-906)gGg>gTg	p.G302V	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.G349V	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	349					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G349V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGCAATTTCCCCTTTCATCCC	0.458000													16	53					2.31682e-05	2.6687e-05	0.024245	1	0
OGDHL	55753	broad.mit.edu	37	10	50958893	50958893	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:50958893C>G	ENST00000374103.4	-	7	973	c.888G>C	c.(886-888)atG>atC	p.M296I	OGDHL_ENST00000419399.1_Missense_Mutation_p.M239I|OGDHL_ENST00000432695.1_Missense_Mutation_p.M87I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	296					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.M296I(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACCTGTGTGGCATCCCCAAGA	0.572000													3	19					0	0	0.009096	0	0
LARP1B	55132	broad.mit.edu	37	4	129012285	129012285	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:129012285G>T	ENST00000326639.6	+	6	699	c.488G>T	c.(487-489)aGa>aTa	p.R163I	LARP1B_ENST00000441387.1_Missense_Mutation_p.R163I|LARP1B_ENST00000512292.1_Missense_Mutation_p.R163I|LARP1B_ENST00000264584.5_Missense_Mutation_p.R116I|LARP1B_ENST00000427266.1_Missense_Mutation_p.R163I|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000394288.3_Missense_Mutation_p.R163I|LARP1B_ENST00000432347.2_Missense_Mutation_p.R163I	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	163	Arg-rich.						RNA binding	p.R163I(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGACGAGGCAGAGGAAATCCT	0.398000													18	167					1.67942e-08	2.12633e-08	0.038395	1	0
CRNN	49860	broad.mit.edu	37	1	152384671	152384671	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:152384671C>G	ENST00000271835.3	-	2	101	c.39G>C	c.(37-39)gaG>gaC	p.E13D	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	13					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.E13D(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGAAGGCCTCGATGATCC	0.502000													5	143					0	0	0.014758	0	0
MYH1	4619	broad.mit.edu	37	17	10397671	10397671	+	Splice_Site	SNP	C	C	T	rs145273788	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:10397671C>T	ENST00000226207.5	-	39	5761	c.5667_splice	c.e39+1	p.A1889_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1889						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.A1889A(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGAACTCACCGCTTCTTCAG	0.443000													35	67					0	0	0.064281	0	0
CLSTN2	64084	broad.mit.edu	37	3	140251280	140251280	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:140251280C>A	ENST00000458420.3	+	9	1649	c.1459C>A	c.(1459-1461)Cat>Aat	p.H487N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	487					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.H487N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTGGCCCATTCATCCATCTCA	0.458000										HNSCC(16;0.037)			32	68					2.42023e-17	3.76044e-17	0.059317	1	0
LUM	4060	broad.mit.edu	37	12	91502248	91502248	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:91502248C>A	ENST00000266718.4	-	2	963	c.509G>T	c.(508-510)cGg>cTg	p.R170L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	170					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R170L(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CTCTTTCAGCCGATTGTGCTG	0.443000													28	109					5.61819e-17	8.694e-17	0.108266	1	0
KIAA2026	158358	broad.mit.edu	37	9	5968614	5968614	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:5968614C>T	ENST00000399933.3	-	3	1616	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q	KIAA2026_ENST00000381461.2_Silent_p.Q539Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	539								p.Q539Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AATTATTTTCCTGCTCTTTCT	0.363000													75	68					0	0	0.048971	0	0
SAMD4A	23034	broad.mit.edu	37	14	55243227	55243227	+	Silent	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:55243227C>G	ENST00000251091.5	+	9	2054	c.1749C>G	c.(1747-1749)tcC>tcG	p.S583S	SAMD4A_ENST00000392067.3_Silent_p.S671S|SAMD4A_ENST00000555192.1_Silent_p.S262S|SAMD4A_ENST00000357634.3_Silent_p.S670S|SAMD4A_ENST00000554335.1_Silent_p.S671S	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	671					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.S670S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGCACACTTCCCCACAGAACA	0.612000													59	279					0	0	0.048971	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409647	22409647	+	RNA	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:22409647C>A	ENST00000390441.2	+	0	193																											ACGTACACAGCCACAGGATAC	0.498000													27	31					1.13719e-10	1.54175e-10	0.037714	1	0
SOGA1	140710	broad.mit.edu	37	20	35444016	35444016	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:35444016T>G	ENST00000237536.4	-	5	2170	c.1829A>C	c.(1828-1830)cAg>cCg	p.Q610P	SOGA1_ENST00000456801.2_Missense_Mutation_p.Q213P|SOGA1_ENST00000357779.3_Missense_Mutation_p.Q372P|SOGA1_ENST00000279034.5_Missense_Mutation_p.Q372P	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	372								p.Q610P(3)|p.Q372P(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCGCGTACTCTGGCAGGAGGC	0.662000													3	14					0	0	0.004672	0	0
PLCE1	51196	broad.mit.edu	37	10	96018635	96018635	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:96018635C>A	ENST00000260766.3	+	12	4267	c.3633C>A	c.(3631-3633)agC>agA	p.S1211R	PLCE1_ENST00000371375.1_Missense_Mutation_p.S903R|PLCE1_ENST00000371380.2_Missense_Mutation_p.S1211R|PLCE1_ENST00000371385.3_Missense_Mutation_p.S903R	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1211					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.S1211R(1)|p.S903R(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTCAGATAGCAACATGAGTT	0.443000													14	56					0.000219431	0.000244664	0.020292	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77912725	77912725	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:77912725G>T	ENST00000321110.1	-	2	1488	c.1193C>A	c.(1192-1194)cCc>cAc	p.P398H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	398							nucleic acid binding|zinc ion binding	p.P398H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TAATGGATTGGGATCAGGCTT	0.507000													71	67					6.5469e-37	1.24749e-36	0.048971	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50473649	50473649	+	RNA	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:50473649G>C	ENST00000602139.1	+	0	519									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.C165S(1)		endometrium(2)|kidney(2)|lung(6)	10						ACGGTCATCTGTGTGTTTAAC	0.597000													12	26					0	0	0.034045	0	0
CAD	790	broad.mit.edu	37	2	27456644	27456644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:27456644G>T	ENST00000264705.4	+	21	3529	c.3367G>T	c.(3367-3369)Gtg>Ttg	p.V1123L	CAD_ENST00000403525.1_Missense_Mutation_p.V1060L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1123	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.V1123L(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGAGCATCCCGTGGTCATCTC	0.587000													14	43					3.52763e-06	4.12544e-06	0.033300	1	0
CTPS1	1503	broad.mit.edu	37	1	41461722	41461722	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:41461722G>T	ENST00000372621.4	+	8	1362	c.854G>T	c.(853-855)tGg>tTg	p.W285L	CTPS1_ENST00000372616.1_Missense_Mutation_p.W285L|CTPS1_ENST00000543104.1_Missense_Mutation_p.W292L|CTPS1_ENST00000541520.1_Missense_Mutation_p.W54L	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	285					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	p.W285L(2)		endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CTGATGAAATGGAAAGAGATG	0.488000													9	37					2.17888e-05	2.51358e-05	0.058154	1	0
T	6862	broad.mit.edu	37	6	166574359	166574359	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:166574359C>A	ENST00000296946.2	-	8	1468	c.1000G>T	c.(1000-1002)Gtg>Ttg	p.V334L	T_ENST00000366871.3_Missense_Mutation_p.V276L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	334					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.V334L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TTGTGGCTCACGGGGAGCATG	0.542000									Chordoma, Familial Clustering of				46	59					1.61004e-24	2.79657e-24	0.048971	1	0
GLRA2	2742	broad.mit.edu	37	X	14627195	14627195	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:14627195G>T	ENST00000218075.4	+	7	1328	c.798G>T	c.(796-798)ctG>ctT	p.L266L	GLRA2_ENST00000355020.4_Silent_p.L266L|GLRA2_ENST00000443437.2_Silent_p.L177L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	266					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.L266L(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TCCCAAGCCTGCTTATAGTAA	0.453000													58	132					3.7469e-33	6.96632e-33	0.048971	1	0
EPHB3	2049	broad.mit.edu	37	3	184290644	184290644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:184290644G>T	ENST00000330394.2	+	3	988	c.536G>T	c.(535-537)cGc>cTc	p.R179L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	179						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R179L(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACCAAGGTGCGCAGCTTTGGG	0.602000													13	21					4.36969e-10	5.80101e-10	0.105934	1	0
TLR4	7099	broad.mit.edu	37	9	120476380	120476380	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:120476380G>T	ENST00000355622.6	+	3	2075	c.1974G>T	c.(1972-1974)ctG>ctT	p.L658L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L618L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	658					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.L658L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATTTTCACCTGATGCTTCTTG	0.433000													14	31					3.27435e-08	4.0783e-08	0.020292	1	0
BRIP1	83990	broad.mit.edu	37	17	59760697	59760697	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:59760697G>A	ENST00000259008.2	-	20	3977	c.3710C>T	c.(3709-3711)tCt>tTt	p.S1237F		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1237					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.S1237F(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTGGAAGGAGATGGTTTAAA	0.294000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					23	81					0	0	0.083992	0	0
JPH1	56704	broad.mit.edu	37	8	75227187	75227187	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:75227187T>A	ENST00000342232.4	-	2	1088	c.1048A>T	c.(1048-1050)Aca>Tca	p.T350S		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	350					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.T350S(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTAGTTTTTGTATGTCTTATT	0.443000													52	201					0	0	0.048971	0	0
CUX2	23316	broad.mit.edu	37	12	111729244	111729244	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:111729244G>A	ENST00000261726.6	+	5	478	c.324G>A	c.(322-324)gcG>gcA	p.A108A		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A108A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGTTTGAGGCGGCACGCAGCC	0.652000													11	93					0	0	0.080935	0	0
PTPRB	5787	broad.mit.edu	37	12	70983910	70983910	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:70983910G>T	ENST00000334414.6	-	8	1928	c.1884C>A	c.(1882-1884)atC>atA	p.I628I	PTPRB_ENST00000538708.1_Silent_p.I410I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Silent_p.I410I|PTPRB_ENST00000551525.1_Silent_p.I627I|PTPRB_ENST00000550358.1_Silent_p.I628I|PTPRB_ENST00000550857.1_Intron	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	410	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I410I(2)|p.I628I(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAAGAGTAGGATCCGATACT	0.512000											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	80					1.31131e-34	2.46191e-34	0.045515	1	0
SPTBN5	51332	broad.mit.edu	37	15	42168805	42168805	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:42168805T>A	ENST00000320955.6	-	20	4119	c.3892A>T	c.(3892-3894)Agg>Tgg	p.R1298W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1298					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.R1298W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCTGGAGCCTGGTCCACTGT	0.662000													3	11					0	0	0.004672	0	0
FRY	10129	broad.mit.edu	37	13	32745165	32745165	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:32745165G>A	ENST00000380250.3	+	18	2405	c.1909G>A	c.(1909-1911)Gat>Aat	p.D637N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.D637N(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TATTCATATGGATGATGAATT	0.333000													55	62					0	0	0.048971	0	0
ZIC3	7547	broad.mit.edu	37	X	136652125	136652125	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:136652125G>T	ENST00000287538.5	+	3	1850	c.1300G>T	c.(1300-1302)Gct>Tct	p.A434S	ZIC3_ENST00000370606.3_Intron|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	434					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A434S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACCCGCTATAGCTTCTGCAAA	0.428000													94	167					1.42366e-38	2.73314e-38	0.048971	1	0
RCC1	1104	broad.mit.edu	37	1	28864429	28864429	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:28864429G>T	ENST00000373833.6	+	13	1461	c.1176G>T	c.(1174-1176)atG>atT	p.M392I	RCC1_ENST00000373831.3_Missense_Mutation_p.M423I|RCC1_ENST00000373832.1_Missense_Mutation_p.M392I|RCC1_ENST00000398958.2_Missense_Mutation_p.M392I			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	392					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	p.M423I(1)|p.M392I(1)		breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGATGATGGGCAAACAGC	0.557000													11	10					1.58986e-06	1.88228e-06	0.069234	1	0
UNC13C	440279	broad.mit.edu	37	15	54817797	54817797	+	Silent	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:54817797T>C	ENST00000545554.1	+	24	5508	c.5508T>C	c.(5506-5508)agT>agC	p.S1836S	UNC13C_ENST00000537900.1_Silent_p.S1834S|UNC13C_ENST00000260323.11_Silent_p.S1836S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1836					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1836S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTAAGCTCAGTGGGGTCCTGG	0.388000													5	9					0	0	0.021553	0	0
OTOF	9381	broad.mit.edu	37	2	26702462	26702462	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:26702462C>G	ENST00000272371.2	-	17	2098	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	OTOF_ENST00000403946.3_Missense_Mutation_p.E658Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	658					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.E658Q(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCCGGCTCCTTCCGGGGC	0.622000													24	36					0	0	0.108266	0	0
UNC80	285175	broad.mit.edu	37	2	210642131	210642131	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:210642131C>A	ENST00000439458.1	+	4	528	c.448C>A	c.(448-450)Cac>Aac	p.H150N	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.H150N	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	150						integral to membrane		p.H150N(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TGCTTTCATCCACCAGGTTGA	0.552000													14	50					9.31168e-06	1.08236e-05	0.105934	1	0
SLC45A2	51151	broad.mit.edu	37	5	33947361	33947361	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:33947361C>A	ENST00000382102.3	-	6	1332	c.1275G>T	c.(1273-1275)ctG>ctT	p.L425L	SLC45A2_ENST00000296589.4_Silent_p.L425L|SLC45A2_ENST00000342059.3_Silent_p.L366L	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	425					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.L425L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGCACAGGACCAGGGTGGAGT	0.498000													71	109					7.59065e-32	1.40107e-31	0.048971	1	0
LILRB2	10288	broad.mit.edu	37	19	54783311	54783311	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:54783311C>T	ENST00000391748.1	-	5	674	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	LILRB2_ENST00000391749.4_Missense_Mutation_p.V183M|LILRB2_ENST00000434421.1_Missense_Mutation_p.V67M|LILRB2_ENST00000391746.1_Missense_Mutation_p.V183M|LILRB2_ENST00000314446.5_Missense_Mutation_p.V183M	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.V183M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.572000													8	85					0	0	0.058154	0	0
MAATS1	89876	broad.mit.edu	37	3	119462963	119462963	+	Missense_Mutation	SNP	C	C	T	rs139653997		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:119462963C>T	ENST00000273390.5	+	14	1899	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1									p.R608W(1)									GCGCCAGCGGCGGGTACGAGA	0.587000													18	45					0	0	0.049695	0	0
OR52A5	390054	broad.mit.edu	37	11	5153746	5153746	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:5153746C>T	ENST00000307388.1	-	1	126	c.127G>A	c.(127-129)Gga>Aga	p.G43R		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43R(1)|p.G43*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGGAATTTCCAATCACACCA	0.403000													26	42					0	0	0.083992	0	0
LUZP2	338645	broad.mit.edu	37	11	24927594	24927594	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:24927594G>T	ENST00000533227.1	+	6	483	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	LUZP2_ENST00000336930.6_Nonsense_Mutation_p.E152*	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	152						extracellular region		p.E152*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CATTCACGCAGAAGAGGTGAG	0.338000													13	21					9.31168e-06	1.08236e-05	0.105934	1	0
DMD	1756	broad.mit.edu	37	X	31462617	31462617	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:31462617G>T	ENST00000357033.4	-	60	9271	c.9065C>A	c.(9064-9066)aCc>aAc	p.T3022N	DMD_ENST00000474231.1_Missense_Mutation_p.T562N|DMD_ENST00000378677.2_Missense_Mutation_p.T3018N|DMD_ENST00000541735.1_Missense_Mutation_p.T562N|DMD_ENST00000343523.2_Missense_Mutation_p.T562N|DMD_ENST00000378707.3_Missense_Mutation_p.T562N|DMD_ENST00000359836.1_Missense_Mutation_p.T562N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3022					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.T562N(1)|p.T3017N(1)|p.T1681N(1)|p.T3018N(1)|p.T3022N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCCATCTGGTGTTCAGGTC	0.413000													56	72					2.18419e-29	3.97409e-29	0.048971	1	0
CD1B	910	broad.mit.edu	37	1	158299405	158299405	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:158299405C>T	ENST00000368168.3	-	4	748	c.641G>A	c.(640-642)aGt>aAt	p.S214N		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	214	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.S214N(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGGTCCAGGACTGGGGCCACT	0.547000													4	97					0	0	0.009096	0	0
PON3	5446	broad.mit.edu	37	7	94991730	94991730	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:94991730G>A	ENST00000265627.5	-	8	860	c.850C>T	c.(850-852)Cat>Tat	p.H284Y	PON3_ENST00000427422.1_Intron|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3									p.H284Y(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			GGATTAGGATGGCATCCTGCC	0.478000													10	24					0	0	0.105934	0	0
FLNA	2316	broad.mit.edu	37	X	153581773	153581773	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153581773G>C	ENST00000422373.1	-	36	6137	c.5889C>G	c.(5887-5889)atC>atG	p.I1963M	FLNA_ENST00000369856.3_Missense_Mutation_p.I104M|FLNA_ENST00000360319.4_Missense_Mutation_p.I1963M|FLNA_ENST00000369850.3_Missense_Mutation_p.I1971M|FLNA_ENST00000344736.4_Missense_Mutation_p.I1931M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1971					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.I1971M(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTTGATGGGGATGTCGGCAG	0.632000													34	65					0	0	0.064281	0	0
ADNP	23394	broad.mit.edu	37	20	49510039	49510039	+	Silent	SNP	C	C	T	rs139951165		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:49510039C>T	ENST00000396029.3	-	5	1779	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	ADNP_ENST00000396032.3_Silent_p.S404S|ADNP_ENST00000349014.3_Silent_p.S404S|ADNP_ENST00000371602.4_Silent_p.S404S	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	404						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S404S(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTAACTGGCCCGATGAGAGAG	0.562000													8	119					0	0	0.038147	0	0
PIGV	55650	broad.mit.edu	37	1	27117369	27117369	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:27117369G>T	ENST00000374145.1	+	2	745	c.63G>T	c.(61-63)ctG>ctT	p.L21L	PIGV_ENST00000449950.2_5'UTR|PIGV_ENST00000078527.4_Silent_p.L21L	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	21					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	p.L21L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GCCGTATCCTGACTCTGATGC	0.547000													38	23					6.48837e-15	9.52124e-15	0.039052	1	0
BTBD11	121551	broad.mit.edu	37	12	108010922	108010922	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:108010922C>A	ENST00000280758.5	+	8	2586	c.2058C>A	c.(2056-2058)aaC>aaA	p.N686K	BTBD11_ENST00000420571.2_Missense_Mutation_p.N686K|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.N686K|BTBD11_ENST00000357167.4_Missense_Mutation_p.N223K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	686						integral to membrane	DNA binding	p.N686K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCGAGGAGAACTACTCGGAAA	0.612000													23	68					1.42536e-11	1.9708e-11	0.099896	1	0
ZC3H13	23091	broad.mit.edu	37	13	46559672	46559672	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:46559672C>T	ENST00000242848.4	-	10	1828	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	ZC3H13_ENST00000282007.3_Missense_Mutation_p.D494N			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	494	Arg/Ser-rich.						nucleic acid binding|zinc ion binding	p.D494N(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTCTGGGATCACGGCTCTCT	0.507000													81	84					0	0	0.048971	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401268	11401268	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:11401268G>A	ENST00000002596.5	-	2	1536	c.362C>T	c.(361-363)cCc>cTc	p.P121L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	121						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.P121L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GAAATACGCGGGGGTCTTCTC	0.612000													22	58					0	0	0.062417	0	0
NLRP13	126204	broad.mit.edu	37	19	56410252	56410252	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56410252G>T	ENST00000588751.1	-	10	2865	c.2841C>A	c.(2839-2841)gcC>gcA	p.A947A	NLRP13_ENST00000342929.3_Silent_p.A947A			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	947							ATP binding	p.A947A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TATGGCTGAGGGCATTAGCCA	0.438000													42	68					5.48756e-27	9.73026e-27	0.042209	1	0
KDM2B	84678	broad.mit.edu	37	12	122018776	122018776	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:122018776G>A	ENST00000377071.4	-	1	113	c.41C>T	c.(40-42)cCc>cTc	p.P14L	KDM2B_ENST00000536437.1_5'UTR|KDM2B_ENST00000538046.2_Missense_Mutation_p.P14L|RP13-941N14.1_ENST00000541574.1_lincRNA	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	14					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.P14F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTTTCGTGGGGGGTGATCCTC	0.478000													81	83					0	0	0.048971	0	0
ATP11C	286410	broad.mit.edu	37	X	138908907	138908907	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:138908907A>T	ENST00000370557.1	-	2	1130	c.103T>A	c.(103-105)Tac>Aac	p.Y35N	ATP11C_ENST00000370543.1_Missense_Mutation_p.Y38N|ATP11C_ENST00000327569.3_Missense_Mutation_p.Y38N|ATP11C_ENST00000361648.2_Missense_Mutation_p.Y38N|ATP11C_ENST00000359686.2_Missense_Mutation_p.Y38N			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	38					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Y38N(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTGCAATGTAAGCTTCTGTT	0.363000													32	50					0	0	0.041601	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444219	5444219	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:5444219T>A	ENST00000300778.4	+	1	879	c.789T>A	c.(787-789)acT>acA	p.T263T	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T263T(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCTATGACTCATCGCTTTG	0.527000													55	52					0	0	0.048971	0	0
ISOC1	51015	broad.mit.edu	37	5	128440707	128440707	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:128440707A>T	ENST00000173527.5	+	2	384	c.368A>T	c.(367-369)cAg>cTg	p.Q123L		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	123						peroxisome	catalytic activity	p.Q123L(1)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		TGTGATATGCAGGAAAGGTTC	0.388000													20	67					0	0	0.055883	0	0
IRS4	8471	broad.mit.edu	37	X	107979482	107979482	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:107979482G>T	ENST00000372129.2	-	1	169	c.93C>A	c.(91-93)acC>acA	p.T31T		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	31						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.T31T(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAAGCGGGGTGGTCACCACTG	0.642000													20	54					2.4624e-09	3.20782e-09	0.049695	1	0
THOC2	57187	broad.mit.edu	37	X	122840794	122840794	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:122840794G>T	ENST00000245838.8	-	3	167	c.136C>A	c.(136-138)Cag>Aag	p.Q46K	THOC2_ENST00000355725.4_Missense_Mutation_p.Q46K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	46					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.Q46K(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGAGCTTGCTGGAAATCTGTT	0.299000													6	22					0.00116845	0.00126595	0.021553	1	0
GPR101	83550	broad.mit.edu	37	X	136112902	136112902	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:136112902G>T	ENST00000298110.1	-	1	931	c.932C>A	c.(931-933)aCg>aAg	p.T311K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	311						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T311K(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GCTGGCCACCGTGCTGCTCTC	0.607000													122	184					9.48018e-61	1.911e-60	0.048971	1	0
MAST1	22983	broad.mit.edu	37	19	12963015	12963015	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:12963015C>A	ENST00000251472.4	+	9	1002	c.963C>A	c.(961-963)ccC>ccA	p.P321P	MAST1_ENST00000591495.1_Silent_p.P317P	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	321					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P321P(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGGACATCCCCCGCTACATCA	0.667000													51	27					7.47603e-22	1.27259e-21	0.048971	1	0
DBF4	10926	broad.mit.edu	37	7	87536811	87536811	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:87536811T>A	ENST00000265728.1	+	12	1862	c.1358T>A	c.(1357-1359)cTa>cAa	p.L453Q		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	453					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	p.L453E(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CAGCTACCTCTACATAAAAAC	0.323000													16	26					0	0	0.043863	0	0
NXNL2	158046	broad.mit.edu	37	9	91150599	91150599	+	Missense_Mutation	SNP	C	C	A	rs146062765		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:91150599C>A	ENST00000375855.3	+	1	580	c.250C>A	c.(250-252)Cgc>Agc	p.R84S	NXNL2_ENST00000487646.2_3'UTR|NXNL2_ENST00000375854.3_Missense_Mutation_p.R84S	NM_145283.2	NP_660326.2	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	84	Thioredoxin.							p.R84S(2)		lung(3)	3						GGACTTCATGCGCGAGCTGCA	0.726000													58	17					1.48873e-21	2.51736e-21	0.048971	1	0
NRXN2	9379	broad.mit.edu	37	11	64390268	64390268	+	Missense_Mutation	SNP	G	G	T	rs144512935		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:64390268G>T	ENST00000265459.6	-	21	4591	c.4130C>A	c.(4129-4131)aCg>aAg	p.T1377K	NRXN2_ENST00000301894.2_Missense_Mutation_p.T331K|NRXN2_ENST00000377551.1_Missense_Mutation_p.T1377K|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1370K|NRXN2_ENST00000377559.3_Missense_Mutation_p.T1307K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1377	Poly-Thr.				cell adhesion	integral to membrane	metal ion binding	p.T331K(1)|p.T1377K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCCCCGGCGCgtggtggtagt	0.662000													7	29					0.000157383	0.000175994	0.038147	1	0
SLC9B1	150159	broad.mit.edu	37	4	103911057	103911057	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:103911057T>A	ENST00000296422.7	-	3	252	c.111A>T	c.(109-111)aaA>aaT	p.K37N	SLC9B1_ENST00000394789.3_Missense_Mutation_p.K37N	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	37						integral to membrane	solute:hydrogen antiporter activity	p.K37N(1)									ATAAGACAGTTTTAGTTTCTT	0.299000													6	23					0	0	0.029380	0	0
PASD1	139135	broad.mit.edu	37	X	150817161	150817161	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:150817161C>A	ENST00000370357.4	+	9	949	c.704C>A	c.(703-705)gCt>gAt	p.A235D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	235	Poly-Ala.					nucleus	signal transducer activity	p.A235D(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					gctgctgctgctgctATCTCA	0.428000													63	99					4.09171e-25	7.17219e-25	0.048971	1	0
MYO7B	4648	broad.mit.edu	37	2	128322933	128322933	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:128322933G>T	ENST00000389524.4	+	4	311	c.258G>T	c.(256-258)ctG>ctT	p.L86L	MYO7B_ENST00000409816.2_Silent_p.L86L|MYO7B_ENST00000428314.1_Silent_p.L86L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	86	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.L86P(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACAACCTCCTGATCCGCTACC	0.597000													16	30					9.16793e-09	1.16655e-08	0.033300	1	0
MYO7B	4648	broad.mit.edu	37	2	128322932	128322932	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:128322932T>C	ENST00000389524.4	+	4	310	c.257T>C	c.(256-258)cTg>cCg	p.L86P	MYO7B_ENST00000409816.2_Missense_Mutation_p.L86P|MYO7B_ENST00000428314.1_Missense_Mutation_p.L86P			Q6PIF6	MYO7B_HUMAN	myosin VIIB	86	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.L86P(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CACAACCTCCTGATCCGCTAC	0.597000													16	30					0	0	0.033300	0	0
ACAP1	9744	broad.mit.edu	37	17	7246801	7246801	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:7246801C>G	ENST00000158762.3	+	6	654	c.448C>G	c.(448-450)Cag>Gag	p.Q150E	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	150	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	p.Q150E(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCGCCGGGCCCAGGAGGCAGA	0.672000													13	56					0	0	0.020292	0	0
PDGFRB	5159	broad.mit.edu	37	5	149515331	149515331	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:149515331C>A	ENST00000261799.4	-	3	620	c.151G>T	c.(151-153)Gtt>Ttt	p.V51F		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	51	Ig-like C2-type 1.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.V51F(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGTCAGAACGAAGGTGCTG	0.607000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								6	25					0.00116845	0.00126595	0.021553	1	0
MIER2	54531	broad.mit.edu	37	19	336131	336131	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:336131G>T	ENST00000264819.4	-	2	62	c.52C>A	c.(52-54)Ctc>Atc	p.L18I	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L18I(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGCTCGAGGCAGGAGACC	0.657000													21	26					2.39556e-15	3.58399e-15	0.076483	1	0
HDX	139324	broad.mit.edu	37	X	83599332	83599332	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:83599332G>C	ENST00000297977.5	-	6	1697	c.1586C>G	c.(1585-1587)gCt>gGt	p.A529G	HDX_ENST00000373177.2_Missense_Mutation_p.A529G|HDX_ENST00000506585.2_Missense_Mutation_p.A471G	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	529						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A529G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCAGGCCCAGCTTCCTCTCC	0.453000													22	83					0	0	0.055883	0	0
RP2	6102	broad.mit.edu	37	X	46713296	46713296	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:46713296G>T	ENST00000218340.3	+	2	649	c.488G>T	c.(487-489)gGg>gTg	p.G163V		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	163	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	p.G163V(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						AAAGATGCAGGGCTAAGTATC	0.408000													49	82					1.63038e-21	2.75081e-21	0.048971	1	0
PTPRN2	5799	broad.mit.edu	37	7	158109546	158109546	+	Missense_Mutation	SNP	C	C	A	rs145815332		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:158109546C>A	ENST00000389413.3	-	3	345	c.242G>T	c.(241-243)cGc>cTc	p.R81L	PTPRN2_ENST00000389416.4_Missense_Mutation_p.R64L|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R81L|PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R104L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	81						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R81L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CACGCGCAGGCGCTGCAGGGC	0.642000													15	18					1.5739e-10	2.12629e-10	0.028581	1	0
DPYS	1807	broad.mit.edu	37	8	105393434	105393434	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:105393434G>T	ENST00000351513.2	-	9	1684	c.1552C>A	c.(1552-1554)Cac>Aac	p.H518N	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	518					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.H518N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCAGGGGTGGGCCTGTTTC	0.507000													85	108					9.37156e-40	1.80367e-39	0.048971	1	0
WNT16	51384	broad.mit.edu	37	7	120969762	120969762	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:120969762G>T	ENST00000222462.2	+	2	527	c.237G>T	c.(235-237)caG>caT	p.Q79H	WNT16_ENST00000361301.2_Missense_Mutation_p.Q69H	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	79					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.Q69H(1)|p.Q79H(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TGGGCATTCAGGAGTGCGGGA	0.652000													24	31					9.80776e-20	1.59846e-19	0.030593	1	0
PTPRB	5787	broad.mit.edu	37	12	70974892	70974892	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:70974892G>A	ENST00000334414.6	-	10	2546	c.2502C>T	c.(2500-2502)ggC>ggT	p.G834G	PTPRB_ENST00000538708.1_Silent_p.G616G|PTPRB_ENST00000451516.2_Silent_p.G526G|PTPRB_ENST00000261266.5_Silent_p.G616G|PTPRB_ENST00000551525.1_Silent_p.G833G|PTPRB_ENST00000550358.1_Silent_p.G834G|PTPRB_ENST00000550857.1_Silent_p.G526G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	616	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G616G(2)|p.G834G(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGTACAGGCTGCCGGACTTGA	0.458000													70	85					0	0	0.048971	0	0
SLFN5	162394	broad.mit.edu	37	17	33585721	33585721	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:33585721G>T	ENST00000299977.4	+	2	160	c.12G>T	c.(10-12)agG>agT	p.R4S	SLFN5_ENST00000592325.1_Missense_Mutation_p.R4S|SLFN5_ENST00000542451.1_Missense_Mutation_p.R4S	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	4					cell differentiation		ATP binding	p.R4S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGAGTCTTAGGATTGATGTGG	0.463000													13	53					7.93312e-07	9.48014e-07	0.020292	1	0
TTC12	54970	broad.mit.edu	37	11	113235676	113235676	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:113235676G>C	ENST00000529221.1	+	21	2041	c.1936G>C	c.(1936-1938)Gac>Cac	p.D646H	TTC12_ENST00000314756.3_Missense_Mutation_p.D646H|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000483239.2_Missense_Mutation_p.D652H	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	646							binding	p.D646H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GCTAAAGACGGACCTTTTGCA	0.577000													16	44					0	0	0.024245	0	0
GAB1	2549	broad.mit.edu	37	4	144359508	144359508	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:144359508A>G	ENST00000262995.4	+	4	1377	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	GAB1_ENST00000505913.1_Missense_Mutation_p.Y214C|GAB1_ENST00000262994.4_Missense_Mutation_p.Y317C	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	317					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	p.Y317C(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GGTAATACTTATCAGATTCCA	0.433000													16	113					0	0	0.024245	0	0
MTG2	26164	broad.mit.edu	37	20	60776117	60776117	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:60776117A>T	ENST00000370823.3	+	7	1223	c.1205A>T	c.(1204-1206)cAg>cTg	p.Q402L	MTG2_ENST00000436421.2_Missense_Mutation_p.Q244L|MTG2_ENST00000536470.1_Missense_Mutation_p.Q174L	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2									p.Q402L(1)									CAGGGCCGCCAGCCGCTCAGG	0.632000													4	14					0	0	0.021553	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332708	22332708	+	RNA	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:22332708C>A	ENST00000558896.1	+	0	515																											GATGCCTGGCCCAGATCTACT	0.473000													4	35					1.23904e-05	1.43586e-05	0.014758	1	0
MUC2	4583	broad.mit.edu	37	11	1104231	1104231	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:1104231C>T	ENST00000441003.2	+	49	8449	c.8422C>T	c.(8422-8424)Cgg>Tgg	p.R2808W		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5170						inner mucus layer|outer mucus layer	protein binding	p.R2808W(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGCCGGGCCCGGCGCTCCCC	0.706000													3	12					0	0	0.009096	0	0
IMPG2	50939	broad.mit.edu	37	3	100963380	100963380	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:100963380C>T	ENST00000193391.7	-	13	1982	c.1795G>A	c.(1795-1797)Ggt>Agt	p.G599S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	599					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.G599S(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCTAAACCACCGTCAAATATT	0.468000													28	121					0	0	0.050027	0	0
CCDC171	203238	broad.mit.edu	37	9	15971692	15971692	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:15971692C>A	ENST00000380701.3	+	26	4167	c.3839C>A	c.(3838-3840)cCa>cAa	p.P1280Q	CCDC171_ENST00000486641.2_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	1280								p.P1280Q(1)									GATTTCTTACCATTGAAAGCT	0.413000													14	225					7.93312e-07	9.48014e-07	0.020292	1	0
KIAA1407	57577	broad.mit.edu	37	3	113724429	113724429	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:113724429T>A	ENST00000295878.3	-	10	1940	c.1794A>T	c.(1792-1794)gcA>gcT	p.A598A	KIAA1407_ENST00000545063.1_Silent_p.A429A	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	598								p.A598A(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTCTGTGACTGCTAAGGCAT	0.493000													60	89					0	0	0.048971	0	0
LDB2	9079	broad.mit.edu	37	4	16597466	16597466	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:16597466T>C	ENST00000502640.1	-	3	416	c.268A>G	c.(268-270)Agc>Ggc	p.S90G	LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000304523.5_Missense_Mutation_p.S90G|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000441778.2_Missense_Mutation_p.S90G|LDB2_ENST00000515064.1_Missense_Mutation_p.S90G			O43679	LDB2_HUMAN	LIM domain binding 2	90							LIM domain binding|transcription cofactor activity	p.S90G(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AACACAGTGCTAAAGTAACGG	0.498000													4	37					0	0	0.014758	0	0
GABRQ	55879	broad.mit.edu	37	X	151821209	151821209	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:151821209C>A	ENST00000370306.2	+	9	1384	c.1364C>A	c.(1363-1365)tCc>tAc	p.S455Y		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	455						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.S455Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GATCTCCCCTCCACCTCAGAG	0.597000													56	90					1.44317e-28	2.6011e-28	0.048971	1	0
CCDC14	64770	broad.mit.edu	37	3	123634422	123634422	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:123634422G>T	ENST00000485727.1	-	9	6058	c.1466C>A	c.(1465-1467)tCc>tAc	p.S489Y	CCDC14_ENST00000489746.1_Missense_Mutation_p.S489Y|CCDC14_ENST00000488653.2_Missense_Mutation_p.S689Y|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Missense_Mutation_p.S648Y|CCDC14_ENST00000310351.4_Missense_Mutation_p.S529Y			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	689						centrosome		p.S529Y(1)|p.S648Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GCTCATTATGGAAGTGTGAGC	0.388000													32	72					7.72975e-29	1.39976e-28	0.054565	1	0
OR5B12	390191	broad.mit.edu	37	11	58206722	58206722	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:58206722C>A	ENST00000302572.2	-	1	924	c.903G>T	c.(901-903)aaG>aaT	p.K301N		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K301N(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCCCTACAGTCTTTTTAAAGG	0.363000													22	31					1.9806e-07	2.43131e-07	0.069288	1	0
HMGB3	3149	broad.mit.edu	37	X	150156302	150156302	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:150156302C>A	ENST00000325307.7	+	5	614	c.518C>A	c.(517-519)gCt>gAt	p.A173D	HMGB3_ENST00000448905.2_Missense_Mutation_p.A173D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	173					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.A173D(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGTCCTGCTAAAGTTGCC	0.443000													54	74					1.54886e-18	2.45637e-18	0.048971	1	0
SLC12A6	9990	broad.mit.edu	37	15	34530465	34530465	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:34530465T>A	ENST00000354181.3	-	21	3262	c.2770A>T	c.(2770-2772)Atg>Ttg	p.M924L	SLC12A6_ENST00000560611.1_Missense_Mutation_p.M924L|SLC12A6_ENST00000397707.2_Missense_Mutation_p.M909L|SLC12A6_ENST00000558589.1_Missense_Mutation_p.M915L|SLC12A6_ENST00000397702.2_Missense_Mutation_p.M865L|SLC12A6_ENST00000558667.1_Missense_Mutation_p.M924L|SLC12A6_ENST00000290209.5_Missense_Mutation_p.M873L|SLC12A6_ENST00000458406.2_Missense_Mutation_p.M865L|SLC12A6_ENST00000560164.1_Missense_Mutation_p.M736L|SLC12A6_ENST00000451844.2_Missense_Mutation_p.M736L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	924					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	p.M873L(1)|p.M915L(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GGTAGTAGCATAAGCATCCCC	0.423000													21	44					0	0	0.083992	0	0
NLRP13	126204	broad.mit.edu	37	19	56424608	56424608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56424608C>T	ENST00000588751.1	-	5	599	c.575G>A	c.(574-576)tGg>tAg	p.W192*	NLRP13_ENST00000342929.3_Nonsense_Mutation_p.W192*			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	192							ATP binding	p.W192*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GATGTTGTCCCATGTCTCCAG	0.443000													58	151					0	0	0.048971	0	0
POTEM	641455	broad.mit.edu	37	14	20020002	20020002	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:20020002C>A	ENST00000551509.1	-	1	270	c.219G>T	c.(217-219)agG>agT	p.R73S		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	73								p.R73S(2)		endometrium(4)|kidney(1)|lung(4)	9						TGCCGCTCCCCCTGCACCAGG	0.582000													111	386					1.56149e-49	3.07482e-49	0.048971	1	0
TP53BP1	7158	broad.mit.edu	37	15	43771675	43771675	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:43771675C>T	ENST00000263801.3	-	7	945	c.693G>A	c.(691-693)caG>caA	p.Q231Q	TP53BP1_ENST00000382039.3_Silent_p.Q236Q|TP53BP1_ENST00000450115.2_Silent_p.Q236Q|TP53BP1_ENST00000382044.4_Silent_p.Q236Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	231					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	p.Q231L(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTTGCTGGACTGTTCTGCTA	0.403000								Other conserved DNA damage response genes					80	100					0	0	0.048971	0	0
WNK3	65267	broad.mit.edu	37	X	54337611	54337611	+	Silent	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:54337611T>C	ENST00000354646.2	-	3	1089	c.651A>G	c.(649-651)ttA>ttG	p.L217L	WNK3_ENST00000375159.2_Silent_p.L217L|WNK3_ENST00000375169.3_Silent_p.L217L	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	217	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.L217L(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCTTTCCTTTTAATATAGATT	0.383000													32	31					0	0	0.041601	0	0
MICAL3	57553	broad.mit.edu	37	22	18301459	18301459	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:18301459A>C	ENST00000441493.2	-	26	4320	c.3968T>G	c.(3967-3969)cTg>cGg	p.L1323R		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1323	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.L1323R(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCCTCCACCAGGTCGCTCCG	0.657000													22	65					0	0	0.083992	0	0
RELN	5649	broad.mit.edu	37	7	103151433	103151433	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:103151433G>T	ENST00000424685.2	-	51	8298	c.8139C>A	c.(8137-8139)ttC>ttA	p.F2713L	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.F2713L|RELN_ENST00000343529.5_Missense_Mutation_p.F2713L			P78509	RELN_HUMAN	reelin	2713					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F2713_H2714>LD(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATCATCATGGAATAGCCAGT	0.388000													11	35					6.40141e-05	7.29685e-05	0.080935	1	0
WDR52	55779	broad.mit.edu	37	3	113084979	113084979	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:113084979C>A	ENST00000393845.2	-	19	2688	c.2622G>T	c.(2620-2622)gtG>gtT	p.V874V	WDR52_ENST00000295868.2_Silent_p.V874V	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	874								p.V22V(1)|p.V874V(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTCCAGCAGTCACCAAGAAAC	0.373000													18	69					1.56452e-12	2.21112e-12	0.043863	1	0
PPP6R1	22870	broad.mit.edu	37	19	55753604	55753604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:55753604C>A	ENST00000412770.2	-	7	1341	c.775G>T	c.(775-777)Gag>Tag	p.E259*	PPP6R1_ENST00000587283.1_Nonsense_Mutation_p.E259*	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	259	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	p.E259*(1)		breast(1)	1						TGGCTCTGCTCCCCCTCGAAC	0.652000													49	90					9.55421e-19	1.52787e-18	0.048971	1	0
SULT1B1	27284	broad.mit.edu	37	4	70620409	70620409	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:70620409G>T	ENST00000310613.2	-	3	553	c.256C>A	c.(256-258)Ctc>Atc	p.L86I		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	86					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.L86I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AATCCAGGGAGAGTCATTTCC	0.303000													11	77					0.000151284	0.000169918	0.105934	1	0
NRXN3	9369	broad.mit.edu	37	14	79181120	79181120	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:79181120G>T	ENST00000554719.1	+	5	1054	c.563G>T	c.(562-564)aGg>aTg	p.R188M	NRXN3_ENST00000335750.5_Missense_Mutation_p.R188M	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	194	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.R188M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTGAACAGCAGGCGCACGCCA	0.552000													98	295					1.45855e-51	2.90194e-51	0.048971	1	0
NOLC1	9221	broad.mit.edu	37	10	103919024	103919024	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:103919024G>T	ENST00000405356.1	+	6	917	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	NOLC1_ENST00000488254.2_Missense_Mutation_p.D229Y|NOLC1_ENST00000605788.1_Missense_Mutation_p.D228Y|NOLC1_ENST00000603742.1_5'UTR			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	228	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.D228Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		cagtagcagTGATGACTCAGA	0.522000													44	59					7.53189e-24	1.30235e-23	0.098360	1	0
SLC24A5	283652	broad.mit.edu	37	15	48427124	48427124	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:48427124C>G	ENST00000341459.3	+	5	606	c.533C>G	c.(532-534)gCg>gGg	p.A178G	SLC24A5_ENST00000449382.2_Missense_Mutation_p.A118G	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	178					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.A178G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GACTGTGCAGCGTACACAATT	0.333000													18	39					0	0	0.062417	0	0
PRR21	643905	broad.mit.edu	37	2	240982289	240982289	+	Missense_Mutation	SNP	G	G	T	rs71420284		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:240982289G>T	ENST00000408934.1	-	1	110	c.111C>A	c.(109-111)caC>caA	p.H37Q		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	37								p.H37Q(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGGGCCATGGGTGAAGAGCCG	0.572000													6	9					8.12818e-05	9.22398e-05	0.029380	1	0
BTAF1	9044	broad.mit.edu	37	10	93776187	93776187	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:93776187A>T	ENST00000265990.6	+	33	4983	c.4675A>T	c.(4675-4677)Aaa>Taa	p.K1559*	BTAF1_ENST00000544642.1_Nonsense_Mutation_p.K387*	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1559					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.K1559*(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGAAACTGAAAAACCAAAGCT	0.368000													13	49					0	0	0.105934	0	0
SLC6A5	9152	broad.mit.edu	37	11	20668432	20668432	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:20668432C>A	ENST00000525748.1	+	14	2295	c.2022C>A	c.(2020-2022)aaC>aaA	p.N674K	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	674					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.N674K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCCAGCCTAACATCTTCTGGA	0.428000													31	38					2.47316e-13	3.54101e-13	0.059317	1	0
OR2AK2	391191	broad.mit.edu	37	1	248128993	248128993	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:248128993G>T	ENST00000366480.3	+	1	459	c.360G>T	c.(358-360)ttG>ttT	p.L120F	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L120F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGTGTTCTTGGCCCTTGGTG	0.443000													59	203					2.53126e-37	4.83528e-37	0.048971	1	0
NINL	22981	broad.mit.edu	37	20	25485607	25485607	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:25485607C>A	ENST00000278886.6	-	6	698	c.625G>T	c.(625-627)Ggg>Tgg	p.G209W	NINL_ENST00000422516.1_Missense_Mutation_p.G209W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	209	EF-hand 3.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.G209W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGCCCACCCCCAGCTCTTCC	0.657000													12	35					7.03913e-09	8.98662e-09	0.093190	1	0
SAMD7	344658	broad.mit.edu	37	3	169637321	169637321	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:169637321A>T	ENST00000428432.2	+	3	424	c.35A>T	c.(34-36)cAg>cTg	p.Q12L	SAMD7_ENST00000335556.3_Missense_Mutation_p.Q12L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	12								p.Q12L(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CCAACAGGGCAGCAGACAATC	0.433000													30	51					0	0	0.041601	0	0
KAL1	3730	broad.mit.edu	37	X	8503631	8503631	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:8503631C>A	ENST00000262648.3	-	12	1992		c.e12+1		KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence						axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	p.?(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GTGGGACCTACGGAAGGCAGG	0.493000													12	33					1.08611e-07	1.34187e-07	0.080935	1	0
OR2W3	343171	broad.mit.edu	37	1	248059435	248059435	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:248059435G>T	ENST00000537741.1	+	3	804	c.547G>T	c.(547-549)Gcc>Tcc	p.A183S	OR2W3_ENST00000360358.3_Missense_Mutation_p.A183S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A183S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGATGCCCGCCCTGATCCG	0.637000													13	39					2.41591e-17	3.76044e-17	0.099896	1	0
IGJ	3512	broad.mit.edu	37	4	71532144	71532144	+	Splice_Site	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:71532144C>G	ENST00000254801.4	-	1	233	c.64_splice	c.e1+1	p.A22_splice	IGJ_ENST00000543780.1_Splice_Site_p.G22_splice|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	22					immune response	extracellular region	antigen binding	p.A22P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TATCACATACCTTTCACATGA	0.363000													23	36					0	0	0.099896	0	0
DPYSL4	10570	broad.mit.edu	37	10	134006275	134006275	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:134006275T>A	ENST00000338492.4	+	3	406	c.242T>A	c.(241-243)cTg>cAg	p.L81Q	DPYSL4_ENST00000368629.1_Missense_Mutation_p.L4Q|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.L4Q	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	81					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.L81Q(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATGCCTGTCCTGGGCATGACA	0.602000													17	48					0	0	0.049695	0	0
KRT84	3890	broad.mit.edu	37	12	52778922	52778922	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:52778922G>A	ENST00000257951.3	-	1	514	c.448C>T	c.(448-450)Ctc>Ttc	p.L150F	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	150	Head.					keratin filament	structural constituent of epidermis	p.L150I(1)|p.L150F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGGTTGAGGGGGGTCAGT	0.527000													18	307					0	0	0.049695	0	0
HCFC1	3054	broad.mit.edu	37	X	153217335	153217335	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153217335C>A	ENST00000310441.7	-	20	6183	c.5217G>T	c.(5215-5217)acG>acT	p.T1739T	HCFC1_ENST00000369984.4_Silent_p.T1784T|HCFC1_ENST00000354233.3_Silent_p.T1670T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1739					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.T1739T(1)|p.T1642T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGGGACCGTGCCGGCCA	0.652000													15	17					0.0438628	0.0453426	0.043863	1	0
CCDC80	151887	broad.mit.edu	37	3	112358661	112358661	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:112358661C>A	ENST00000206423.3	-	2	1045	c.92G>T	c.(91-93)gGc>gTc	p.G31V	CCDC80_ENST00000439685.2_Missense_Mutation_p.G31V|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	31								p.G31V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCCGTGGCTGCCTCTAATAGT	0.552000													17	44					5.35267e-07	6.45692e-07	0.043863	1	0
TRIM29	23650	broad.mit.edu	37	11	119996462	119996462	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:119996462C>A	ENST00000341846.5	-	4	1691	c.1270G>T	c.(1270-1272)Gtt>Ttt	p.V424F	TRIM29_ENST00000529044.1_Missense_Mutation_p.V163F|TRIM29_ENST00000541857.1_Missense_Mutation_p.V157F	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	424					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V424F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATCTTCTCAACGTGGCGCATG	0.592000													17	28					2.48551e-13	3.54543e-13	0.033300	1	0
TTN	7273	broad.mit.edu	37	2	179459155	179459155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:179459155C>A	ENST00000589042.1	-	296	58290	c.58066G>T	c.(58066-58068)Gag>Tag	p.E19356*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E10483*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E10416*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E10291*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E16788*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E17715*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17715	Fibronectin type-III 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E16788*(1)|p.E10483*(1)|p.E10291*(1)|p.E10416*(1)|p.E16786*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACGGTACTCATAGGTATCA	0.413000													17	86					2.35188e-11	3.22857e-11	0.038395	1	0
GDF10	2662	broad.mit.edu	37	10	48428949	48428949	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:48428949C>A	ENST00000224605.2	-	2	1202	c.937G>T	c.(937-939)Gcc>Tcc	p.A313S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	313					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.A313S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGTGCGTGGGCGCGCGGCGGC	0.721000													14	13					0.0202918	0.0212053	0.020292	1	0
PCLO	27445	broad.mit.edu	37	7	82582433	82582433	+	Silent	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:82582433A>G	ENST00000423517.2	-	5	8173	c.7836T>C	c.(7834-7836)gaT>gaC	p.D2612D	PCLO_ENST00000333891.8_Silent_p.D2612D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2543					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.D2612D(2)|p.D2543D(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAAACCAGATCTTTGGAGG	0.433000													74	96					0	0	0.048971	0	0
WDR63	126820	broad.mit.edu	37	1	85547062	85547062	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:85547062A>T	ENST00000294664.6	+	4	429	c.249A>T	c.(247-249)gcA>gcT	p.A83A	WDR63_ENST00000370596.1_Silent_p.A83A|WDR63_ENST00000326813.8_Silent_p.A83A	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	83								p.A83A(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ACAGAGCTGCAGTATCTGATT	0.363000													26	74					0	0	0.034045	0	0
DDC	1644	broad.mit.edu	37	7	50607692	50607692	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:50607692T>A	ENST00000444124.2	-	3	436	c.236A>T	c.(235-237)tAc>tTc	p.Y79F	DDC_ENST00000357936.5_Missense_Mutation_p.Y79F|DDC_ENST00000380984.4_Missense_Mutation_p.Y79F|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Intron|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Missense_Mutation_p.Y79F	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	79	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.Y79F(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AGTGGGGAAGTAGGCGAAGAA	0.642000													41	19					0	0	0.045515	0	0
MROH2B	133558	broad.mit.edu	37	5	41019043	41019043	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:41019043G>T	ENST00000399564.4	-	25	2969	c.2519C>A	c.(2518-2520)cCa>cAa	p.P840Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.P395Q	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.P840Q(1)									TTCCAGAGGTGGAAGGGGCAG	0.478000													11	30					7.03913e-09	8.98662e-09	0.093190	1	0
NLGN3	54413	broad.mit.edu	37	X	70389915	70389915	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:70389915C>A	ENST00000374051.3	+	7	2777	c.2455C>A	c.(2455-2457)Ctg>Atg	p.L819M	NLGN3_ENST00000536169.1_Missense_Mutation_p.L799M|NLGN3_ENST00000358741.3_Missense_Mutation_p.L839M|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	839					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.L839M(1)|p.L819M(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CAGTACCGGGCTGCCCCACTC	0.572000													7	24					0.00198382	0.00213128	0.029380	1	0
TRPM2	7226	broad.mit.edu	37	21	45815320	45815320	+	Silent	SNP	C	C	A	rs144976050	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:45815320C>A	ENST00000397928.1	+	12	2263	c.1818C>A	c.(1816-1818)tcC>tcA	p.S606S	TRPM2_ENST00000397932.2_Silent_p.S606S|TRPM2_ENST00000300481.9_Silent_p.S586S|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.S606S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	606						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.S606*(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCTCCGGTCCCTCTACAAGC	0.622000													12	82					4.3838e-07	5.31328e-07	0.105934	1	0
OR4N5	390437	broad.mit.edu	37	14	20612049	20612049	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:20612049A>T	ENST00000333629.1	+	1	155	c.155A>T	c.(154-156)gAc>gTc	p.D52V		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D52V(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATAAAGTCAGACCCTGGGCTC	0.463000													104	342					0	0	0.048971	0	0
DSG2	1829	broad.mit.edu	37	18	29099836	29099836	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:29099836G>T	ENST00000261590.8	+	3	361	c.152G>T	c.(151-153)tGg>tTg	p.W51L	DSG2_ENST00000585206.1_Missense_Mutation_p.W51L	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	51	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.W51L(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AAGCGCGCCTGGATCACCGCC	0.433000													95	41					9.15355e-43	1.77061e-42	0.048971	1	0
ZNF227	7770	broad.mit.edu	37	19	44739572	44739572	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:44739572G>T	ENST00000313040.7	+	6	1194	c.989G>T	c.(988-990)gGc>gTc	p.G330V	ZNF227_ENST00000589005.1_Missense_Mutation_p.G279V|ZNF227_ENST00000391961.2_Missense_Mutation_p.G279V	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G330V(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GACAGTTGCGGCAAGGGATTC	0.388000													33	66					1.08052e-11	1.49942e-11	0.069456	1	0
CSTF2T	23283	broad.mit.edu	37	10	53458690	53458690	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:53458690G>A	ENST00000331173.4	-	1	665	c.620C>T	c.(619-621)tCt>tTt	p.S207F	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	207					mRNA processing	nucleus	nucleotide binding|RNA binding	p.S207F(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GACAGACACAGACTGAGATTT	0.542000													19	23					0	0	0.038395	0	0
CCNB3	85417	broad.mit.edu	37	X	50053545	50053545	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:50053545G>A	ENST00000376042.1	+	6	2674	c.2376G>A	c.(2374-2376)gcG>gcA	p.A792A	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.A792A|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	792					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.A792A(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCAGCATTGCGGAGGGGGAGA	0.517000													4	21					0	0	0.009096	0	0
ASPH	444	broad.mit.edu	37	8	62550537	62550537	+	Silent	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:62550537A>G	ENST00000541428.1	-	12	931	c.771T>C	c.(769-771)aaT>aaC	p.N257N	ASPH_ENST00000518068.1_Silent_p.N243N|ASPH_ENST00000517847.2_Silent_p.N272N|ASPH_ENST00000517903.1_Silent_p.N271N|ASPH_ENST00000356457.5_Silent_p.N286N|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000522919.1_Silent_p.N99N|ASPH_ENST00000522835.1_Silent_p.N229N|ASPH_ENST00000379454.4_Silent_p.N286N|ASPH_ENST00000445642.3_Silent_p.N272N	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	286	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	p.N286N(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTTCTACAGGATTATCCTCAG	0.338000													8	86					0	0	0.047766	0	0
UNC5C	8633	broad.mit.edu	37	4	96140382	96140382	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:96140382G>T	ENST00000453304.1	-	9	1731	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	UNC5C_ENST00000506749.1_Missense_Mutation_p.D480E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	461					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.D461E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTGGGATTTTGTCTGAGACGT	0.512000													76	206					2.02726e-29	3.69734e-29	0.048971	1	0
COL4A6	1288	broad.mit.edu	37	X	107402768	107402768	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:107402768A>T	ENST00000394872.2	-	44	4970	c.4739T>A	c.(4738-4740)gTg>gAg	p.V1580E	COL4A6_ENST00000334504.7_Missense_Mutation_p.V1579E|COL4A6_ENST00000418180.1_Missense_Mutation_p.V114E|COL4A6_ENST00000538570.1_Missense_Mutation_p.V1522E|COL4A6_ENST00000372216.4_Missense_Mutation_p.V1580E|COL4A6_ENST00000545689.1_Missense_Mutation_p.V1555E			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1580	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.V1579E(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTGGCTGTGCACAGCAATGGC	0.612000									Alport syndrome with Diffuse Leiomyomatosis				35	59					0	0	0.104719	0	0
DHCR7	1717	broad.mit.edu	37	11	71146589	71146589	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:71146589C>A	ENST00000355527.3	-	9	1536	c.1260G>T	c.(1258-1260)ctG>ctT	p.L420L	DHCR7_ENST00000407721.2_Silent_p.L420L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	420					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.L420L(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CGCCACAGGCCAGGCAGTAGG	0.672000									Smith-Lemli-Opitz syndrome				10	21					0.000673444	0.00073694	0.069234	1	0
VANGL2	57216	broad.mit.edu	37	1	160390211	160390211	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:160390211G>T	ENST00000368061.2	+	5	1285	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	VANGL2_ENST00000483408.1_Intron	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	271					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.V271L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCAGCGCGTGGCAGTGTG	0.607000													33	63					5.04308e-16	7.69522e-16	0.086207	1	0
SEMA3D	223117	broad.mit.edu	37	7	84751060	84751060	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:84751060T>A	ENST00000284136.6	-	1	191	c.148A>T	c.(148-150)Aaa>Taa	p.K50*	SEMA3D_ENST00000444867.1_Nonsense_Mutation_p.K50*	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	50	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.K50*(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATTTACCTTTGTAGGTTAGC	0.299000													10	31					0	0	0.069234	0	0
FAT4	79633	broad.mit.edu	37	4	126240058	126240058	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:126240058C>G	ENST00000394329.3	+	1	2505	c.2492C>G	c.(2491-2493)aCt>aGt	p.T831S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	831	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T831S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATCTCATTACTACTGGGGAT	0.443000													5	171					0	0	0.014758	0	0
CD48	962	broad.mit.edu	37	1	160654604	160654604	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:160654604T>A	ENST00000368045.3	-	2	497	c.458A>T	c.(457-459)gAg>gTg	p.E153V	CD48_ENST00000368046.3_Intron			P09326	CD48_HUMAN	CD48 molecule	0	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCCCCATGCCTCCCAGGAAGC	0.527000													25	64					0	0	0.076483	0	0
BAAT	570	broad.mit.edu	37	9	104125073	104125073	+	Silent	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:104125073A>C	ENST00000259407.2	-	4	1002	c.894T>G	c.(892-894)acT>acG	p.T298T	BAAT_ENST00000395051.3_Silent_p.T298T	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	298					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	p.T298T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TTGTCTCAAAAGTGCGATAGA	0.453000													4	76					0	0	0.009096	0	0
OR56A1	120796	broad.mit.edu	37	11	6048764	6048764	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:6048764C>A	ENST00000316650.5	-	1	207	c.171G>T	c.(169-171)caG>caT	p.Q57H		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q57H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCTCCAGCTGGATGGTGA	0.622000													28	22					3.80469e-20	6.26752e-20	0.041601	1	0
STAM	8027	broad.mit.edu	37	10	17737166	17737166	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:17737166A>T	ENST00000377524.3	+	7	869	c.654A>T	c.(652-654)atA>atT	p.I218I	STAM_ENST00000540523.1_Silent_p.I107I	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	218	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	p.I218N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTCGTGCTATATATGACTTTG	0.368000													44	66					0	0	0.042209	0	0
CCDC180	100499483	broad.mit.edu	37	9	100057180	100057180	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:100057180G>T	ENST00000357054.1	+	14	1239	c.304G>T	c.(304-306)Gtg>Ttg	p.V102L	CCDC180_ENST00000395220.1_Missense_Mutation_p.V102L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375205.2_Missense_Mutation_p.V142L					coiled-coil domain containing 180									p.V102L(1)									CATCAACCCTGTGCTTGTCAG	0.507000													10	31					1.61879e-10	2.17543e-10	0.093190	1	0
DBX2	440097	broad.mit.edu	37	12	45429822	45429822	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:45429822G>T	ENST00000332700.6	-	2	650	c.479C>A	c.(478-480)gCa>gAa	p.A160E		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A160E(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		agtggaggatgcagggcgccg	0.488000													14	14					4.75885e-15	7.02366e-15	0.033300	1	0
ZSCAN22	342945	broad.mit.edu	37	19	58849788	58849788	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:58849788G>T	ENST00000329665.4	+	3	719	c.572G>T	c.(571-573)gGg>gTg	p.G191V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	191					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G191V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GGACTATCAGGGGAGATCTGG	0.532000													22	56					9.95505e-16	1.49815e-15	0.069288	1	0
OR6N1	128372	broad.mit.edu	37	1	158736290	158736290	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:158736290G>T	ENST00000335094.2	-	1	202	c.183C>A	c.(181-183)caC>caA	p.H61Q		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H61Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGCTGACAAAGTGGTACATGG	0.483000													24	63					4.87955e-14	7.06567e-14	0.108266	1	0
KCNJ8	3764	broad.mit.edu	37	12	21919111	21919111	+	Missense_Mutation	SNP	C	C	T	rs149127157		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:21919111C>T	ENST00000240662.2	-	3	1166	c.821G>A	c.(820-822)cGc>cAc	p.R274H	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	274						voltage-gated potassium channel complex		p.R274H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CAGGGGACTGCGCTTGTCAAT	0.473000													6	21					0	0	0.021553	0	0
CAPN10	11132	broad.mit.edu	37	2	241530258	241530258	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:241530258G>T	ENST00000391984.2	+	3	496	c.300G>T	c.(298-300)tgG>tgT	p.W100C	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.W100C|CAPN10_ENST00000404753.3_Missense_Mutation_p.W100C|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.W100C	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	100	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	p.W100C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGCCGAGCTGGGCCGACCAGG	0.637000													9	27					0.000274275	0.000304044	0.047766	1	0
APCS	325	broad.mit.edu	37	1	159558097	159558097	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:159558097A>T	ENST00000255040.2	+	2	368	c.271A>T	c.(271-273)Agt>Tgt	p.S91C		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	91	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.S91C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGGAGAGTATAGTCTATACAT	0.443000													77	73					0	0	0.048971	0	0
GTF3C1	2975	broad.mit.edu	37	16	27523148	27523148	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:27523148C>G	ENST00000356183.4	-	7	1063	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E350Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	350	Asp/Glu-rich (acidic).					transcription factor TFIIIC complex	DNA binding|protein binding	p.E350Q(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATGACCTCCTCGTCCTCGTCA	0.532000													29	47					0	0	0.030593	0	0
EPHA5	2044	broad.mit.edu	37	4	66535311	66535311	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:66535311G>T	ENST00000273854.3	-	1	750	c.150C>A	c.(148-150)ctC>ctA	p.L50L	EPHA5_ENST00000511294.1_Silent_p.L50L|EPHA5_ENST00000432638.2_Silent_p.L50L|EPHA5_ENST00000354839.4_Silent_p.L50L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	50					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.L50L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGAGGGTCCGGAGTGCGGCGC	0.726000										TSP Lung(17;0.13)			15	16					4.63292e-17	7.18384e-17	0.049695	1	0
KLRF1	51348	broad.mit.edu	37	12	9997030	9997030	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:9997030G>T	ENST00000279544.3	+	6	668	c.604G>T	c.(604-606)Gga>Tga	p.G202*	KLRF1_ENST00000324214.4_Nonsense_Mutation_p.G152*|KLRF1_ENST00000354855.3_3'UTR|KLRF1_ENST00000537723.1_3'UTR	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	202	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	p.G202*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						CTTCATAAAGGGACCAGCTAA	0.348000													8	26					5.4927e-09	7.0358e-09	0.047766	1	0
SHROOM4	57477	broad.mit.edu	37	X	50377002	50377002	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:50377002G>T	ENST00000376020.2	-	4	2096	c.2071C>A	c.(2071-2073)Cct>Act	p.P691T	SHROOM4_ENST00000460112.3_Missense_Mutation_p.P575T|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P691T	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	691					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.P691T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACTGGCCAGGCCTCTGGCCA	0.582000													22	17					3.85864e-22	6.59759e-22	0.076483	1	0
PLCB4	5332	broad.mit.edu	37	20	9459601	9459601	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:9459601G>T	ENST00000378501.2	+	36	3545	c.3530G>T	c.(3529-3531)aGc>aTc	p.S1177I	PLCB4_ENST00000334005.3_Missense_Mutation_p.S1177I|PLCB4_ENST00000278655.4_Missense_Mutation_p.A1165S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A1177S|PLCB4_ENST00000378493.1_Missense_Mutation_p.A1165S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.A1177S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	0					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.S1177I(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAATTGGAAGCCGAGATGGA	0.448000													8	24					7.48243e-07	8.96955e-07	0.058154	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68131718	68131718	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:68131718C>A	ENST00000262215.3	-	30	4675	c.4286G>T	c.(4285-4287)aGa>aTa	p.R1429I	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R267I|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R883I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1429					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.R1429I(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAAAACAATTCTAAATAAATC	0.318000													10	89					7.48243e-07	8.96955e-07	0.058154	1	0
GRWD1	83743	broad.mit.edu	37	19	48956135	48956135	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:48956135C>T	ENST00000253237.5	+	7	1427	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	398						nucleolus		p.P398P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCCGACCCCGGACTGGCCG	0.692000													18	19					0	0	0.049695	0	0
OR2W1	26692	broad.mit.edu	37	6	29012657	29012657	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:29012657A>G	ENST00000377175.1	-	1	360	c.296T>C	c.(295-297)aTc>aCc	p.I99T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I99T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ATAGAGTTGGATGATACAACC	0.433000													38	16					0	0	0.092188	0	0
MAP3K10	4294	broad.mit.edu	37	19	40710446	40710446	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:40710446C>T	ENST00000253055.3	+	3	1206	c.918C>T	c.(916-918)atC>atT	p.I306I	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	306	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	p.I306I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACCGTGAGATCGACGCCTTGG	0.667000													21	32					0	0	0.069288	0	0
NEBL	10529	broad.mit.edu	37	10	21158739	21158739	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:21158739T>A	ENST00000377122.4	-	6	908	c.512A>T	c.(511-513)cAc>cTc	p.H171L	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.H171L|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	171					regulation of actin filament length		actin binding|structural constituent of muscle	p.H171L(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTGTACGTGTGGGTGTCCTG	0.378000													31	95					0	0	0.054565	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645402	13645402	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:13645402A>C	ENST00000361205.4	+	7	1335	c.667A>C	c.(667-669)Atg>Ctg	p.M223L	LDLRAD4_ENST00000585931.1_Missense_Mutation_p.M146L|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.M186L|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.M205L|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.M223L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.M125L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.M168L	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.M223L(1)|p.M186L(1)									AGACATTGCTATGTATAGCGG	0.577000													8	86					0	0	0.047766	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761637	130761637	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:130761637C>A	ENST00000392429.1	+	2	2448	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	TMEM200A_ENST00000545622.1_Missense_Mutation_p.Q24K|TMEM200A_ENST00000296978.3_Missense_Mutation_p.Q24K	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	24						integral to membrane		p.Q24K(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CAGATCACAGCAGCATGTCAA	0.537000													29	109					7.38237e-10	9.71631e-10	0.030593	1	0
MAGED1	9500	broad.mit.edu	37	X	51641289	51641289	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:51641289G>T	ENST00000375695.2	+	9	2059	c.1906_splice	c.e9+1	p.A636_splice	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Splice_Site_p.A580_splice|MAGED1_ENST00000375772.3_Splice_Site_p.A580_splice|MAGED1_ENST00000326587.7_Splice_Site_p.A580_splice	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	580	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	p.A636S(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TGCCAGTGAGGGTGAGTGGCT	0.532000										Multiple Myeloma(10;0.10)			31	54					8.88839e-20	1.45171e-19	0.045705	1	0
DNAH7	56171	broad.mit.edu	37	2	196913024	196913024	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:196913024G>A	ENST00000312428.6	-	4	346	c.246C>T	c.(244-246)tcC>tcT	p.S82S	DNAH7_ENST00000410072.1_Silent_p.S82S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	82	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S82S(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTTACCATGGGACTGTTCAT	0.368000													24	31					0	0	0.099896	0	0
MYO5B	4645	broad.mit.edu	37	18	47455928	47455928	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:47455928C>G	ENST00000285039.7	-	17	2343	c.2044G>C	c.(2044-2046)Ggg>Cgg	p.G682R		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	682	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G682R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCAACACCCCGCAGGCTCTG	0.527000													16	8					0	0	0.049695	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245704	137245704	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:137245704C>T	ENST00000331858.4	+	2	1286	c.1121C>T	c.(1120-1122)gCt>gTt	p.A374V		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	374					carbohydrate transport	integral to membrane		p.A374V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCGCTGGTGGCTGGGAGCTCT	0.587000													13	28					0	0	0.105934	0	0
PARP14	54625	broad.mit.edu	37	3	122446791	122446791	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:122446791G>T	ENST00000474629.2	+	16	5340	c.5074G>T	c.(5074-5076)Gtc>Ttc	p.V1692F		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1692	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.V1529F(1)|p.V1692F(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CGTGCCACACGTCAATCGAAA	0.498000													12	21					0.00010058	0.0001133	0.093190	1	0
UQCC1	55245	broad.mit.edu	37	20	33999771	33999771	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:33999771C>A	ENST00000374377.5	-	0	5				UQCC_ENST00000542501.1_De_novo_Start_InFrame|UQCC_ENST00000540457.1_De_novo_Start_OutOfFrame|UQCC_ENST00000359226.2_De_novo_Start_InFrame|UQCC_ENST00000397554.1_De_novo_Start_InFrame|UQCC_ENST00000374385.5_De_novo_Start_InFrame|UQCC_ENST00000374380.2_De_novo_Start_InFrame|UQCC_ENST00000374384.2_De_novo_Start_InFrame|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000407996.2_De_novo_Start_InFrame			Q9NVA1	UQCC_HUMAN								cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGCCATGTTCCTCAATAACCA	0.567000													38	104					1.00001e-27	1.79392e-27	0.111260	1	0
SIM2	6493	broad.mit.edu	37	21	38114105	38114105	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:38114105T>C	ENST00000290399.6	+	8	1551	c.938T>C	c.(937-939)gTg>gCg	p.V313A	SIM2_ENST00000430056.3_Missense_Mutation_p.V313A	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	313	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.V313A(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TACGCCACCGTGGTGCACAAC	0.572000													6	9					0	0	0.029380	0	0
TBX18	9096	broad.mit.edu	37	6	85446500	85446500	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:85446500T>A	ENST00000369663.5	-	8	2064	c.1727A>T	c.(1726-1728)cAc>cTc	p.H576L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	576					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.H576L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCTAAGCAGGTGCACTCCTTC	0.502000													39	14					0	0	0.074837	0	0
KLK1	3816	broad.mit.edu	37	19	51323520	51323520	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:51323520G>C	ENST00000448701.2	-	4	1404	c.80C>G	c.(79-81)cCt>cGt	p.P27R	KLK1_ENST00000301420.2_Missense_Mutation_p.P129R			P06870	KLK1_HUMAN	kallikrein 1	129	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity	p.P129R(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTATCAGCAGGCTCTGTCAG	0.602000													33	83					0	0	0.045515	0	0
CACNA1E	777	broad.mit.edu	37	1	181727186	181727186	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:181727186C>T	ENST00000526775.1	+	30	4541	c.4376C>T	c.(4375-4377)cCg>cTg	p.P1459L	CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1410L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1429L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1459L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1478L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1478L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1085L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1478					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P1478L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTGGTGTCTCCGTCCTTTGAG	0.557000													17	60					0	0	0.033300	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795404	142795404	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:142795404C>A	ENST00000370498.1	-	2	1027	c.274G>T	c.(274-276)Gct>Tct	p.A92S		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	92								p.L79M(1)|p.A92S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCTTCAGCTGAGTCTAGG	0.498000													178	388					2.02162e-65	4.1076e-65	0.048971	1	0
MAP2	4133	broad.mit.edu	37	2	210558179	210558179	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:210558179A>T	ENST00000360351.4	+	7	1791	c.1285A>T	c.(1285-1287)Agt>Tgt	p.S429C	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S425C|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	429					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.S429C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTCACCCCCAGTGGACAGGA	0.418000													22	26					0	0	0.076483	0	0
LAMA1	284217	broad.mit.edu	37	18	7023336	7023336	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:7023336C>A	ENST00000389658.3	-	19	2621	c.2528G>T	c.(2527-2529)gGc>gTc	p.G843V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	843	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G843V(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAAGATTCGCCAGGCACTGT	0.527000													9	32					1.76689e-08	2.22972e-08	0.058154	1	0
FBN2	2201	broad.mit.edu	37	5	127681204	127681204	+	Missense_Mutation	SNP	C	C	A	rs139620380	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:127681204C>A	ENST00000508053.1	-	30	4036	c.3062G>T	c.(3061-3063)cGc>cTc	p.R1021L	FBN2_ENST00000508989.1_Missense_Mutation_p.R988L|FBN2_ENST00000262464.4_Missense_Mutation_p.R1021L			P35556	FBN2_HUMAN	fibrillin 2	1021	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R1021L(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCATCCATGCGGAACTTTCC	0.572000													23	49					3.08376e-08	3.85974e-08	0.083992	1	0
HCFC2	29915	broad.mit.edu	37	12	104480726	104480726	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:104480726C>A	ENST00000229330.4	+	8	1269	c.1165C>A	c.(1165-1167)Cag>Aag	p.Q389K		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	389	Fibronectin type-III 1.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.Q389K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CTATCTTTTGCAGTTGAGTAC	0.433000													5	108					0.0215528	0.0224618	0.021553	1	0
SYCP3	50511	broad.mit.edu	37	12	102131607	102131607	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:102131607C>G	ENST00000392927.3	-	2	238	c.107G>C	c.(106-108)aGt>aCt	p.S36T	SYCP3_ENST00000392924.1_Missense_Mutation_p.S36T|SYCP3_ENST00000266743.2_Missense_Mutation_p.S36T	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	36					cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	p.S36T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CTCTGATCCACTCAGATCTTT	0.423000													10	200					0	0	0.069234	0	0
SHFM1	7979	broad.mit.edu	37	7	96318269	96318269	+	Silent	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:96318269T>C	ENST00000248566.2	-	3	307	c.180A>G	c.(178-180)ctA>ctG	p.L60L	SHFM1_ENST00000444799.1_Intron|SHFM1_ENST00000417009.1_Intron|SHFM1_ENST00000413065.1_Intron	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	60					proteolysis	proteasome complex	peptidase activity|protein binding	p.L60L(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					CATGTTTCTCTAGTTCAGCTC	0.318000								Homologous recombination					14	47					0	0	0.028581	0	0
VPS13C	54832	broad.mit.edu	37	15	62160902	62160902	+	Missense_Mutation	SNP	G	G	A	rs149574145		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:62160902G>A	ENST00000261517.5	-	81	10892	c.10819C>T	c.(10819-10821)Cgt>Tgt	p.R3607C	VPS13C_ENST00000249837.3_Missense_Mutation_p.R3564C|VPS13C_ENST00000395896.4_Missense_Mutation_p.R3607C|VPS13C_ENST00000395898.3_Missense_Mutation_p.R3564C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3607					protein localization			p.R3607C(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCATAAGGACGAATGATGCCA	0.443000													15	29					0	0	0.049695	0	0
PASK	23178	broad.mit.edu	37	2	242066563	242066563	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:242066563C>A	ENST00000403638.3	-	10	1858	c.1767G>T	c.(1765-1767)ggG>ggT	p.G589G	PASK_ENST00000539818.1_Silent_p.G373G|PASK_ENST00000544142.1_Silent_p.G403G|PASK_ENST00000405260.1_Silent_p.G589G|PASK_ENST00000358649.4_Silent_p.G589G|PASK_ENST00000234040.4_Silent_p.G589G	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	589					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.G589G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCACGGCAGCCCCAGCCCAAA	0.647000													26	38					1.64293e-13	2.36114e-13	0.083992	1	0
BAI1	575	broad.mit.edu	37	8	143614706	143614706	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:143614706G>T	ENST00000517894.1	+	25	4343	c.3449G>T	c.(3448-3450)tGg>tTg	p.W1150L	BAI1_ENST00000323289.5_Missense_Mutation_p.W1150L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1150					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.W1150L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCGCTGACCTGGATGTCGGCT	0.697000													8	20					0.000274275	0.000304044	0.047766	1	0
LMO7	4008	broad.mit.edu	37	13	76397701	76397701	+	Splice_Site	SNP	A	A	G	rs151245949		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:76397701A>G	ENST00000357063.3	+	16	4057	c.2796_splice	c.e16-1	p.M933_splice	LMO7_ENST00000377534.3_Splice_Site_p.M933_splice|LMO7_ENST00000341547.4_Splice_Site_p.M599_splice|LMO7_ENST00000321797.8_Splice_Site_p.M648_splice|LMO7_ENST00000526202.1_Splice_Site_p.M498_splice|LMO7_ENST00000465261.2_Splice_Site_p.M648_splice			Q8WWI1	LMO7_HUMAN	LIM domain 7	933						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.M933V(1)|p.M648V(1)|p.M599V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCTTATTTAGATGGATGATGC	0.318000													13	50					0	0	0.105934	0	0
ZNF862	643641	broad.mit.edu	37	7	149561358	149561358	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:149561358C>T	ENST00000223210.4	+	8	3740	c.3495C>T	c.(3493-3495)gcC>gcT	p.A1165A		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	p.A1165A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCAGGAGGCCCCCGGGATGT	0.622000													5	10					0	0	0.029380	0	0
SERPINB7	8710	broad.mit.edu	37	18	61460397	61460397	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:61460397A>T	ENST00000398019.2	+	4	547	c.222A>T	c.(220-222)tcA>tcT	p.S74S	SERPINB7_ENST00000336429.2_Silent_p.S74S|SERPINB7_ENST00000546027.1_Silent_p.S74S|SERPINB7_ENST00000540675.1_Silent_p.S57S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	74					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.S74S(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AATAACAGTCAGGGCTCCAGT	0.313000													6	79					0	0	0.029380	0	0
ITM2A	9452	broad.mit.edu	37	X	78616925	78616925	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:78616925C>T	ENST00000434584.2	-	4	808	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	ITM2A_ENST00000373298.2_Missense_Mutation_p.V202M|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	202	BRICHOS.					integral to membrane	protein binding	p.V202M(1)		breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATTTCCTCCACAGCAACTAGG	0.398000													5	60					0	0	0.021553	0	0
CUX1	1523	broad.mit.edu	37	7	101916724	101916724	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:101916724A>T	ENST00000437600.4	+	15	1689	c.1337A>T	c.(1336-1338)gAc>gTc	p.D446V	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.D432V|CUX1_ENST00000292538.4_Missense_Mutation_p.D448V|CUX1_ENST00000425244.2_Missense_Mutation_p.D402V|CUX1_ENST00000393824.3_Missense_Mutation_p.D409V	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	305					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D448V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTGGAGCAGGACCTGAGCATC	0.632000													12	9					0	0	0.080935	0	0
DRD1	1812	broad.mit.edu	37	5	174869090	174869090	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:174869090C>T	ENST00000393752.2	-	2	2005	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	338					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.R338Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AAATGCCTTCCGAAAATCAGC	0.453000													22	37					0	0	0.069288	0	0
CSMD2	114784	broad.mit.edu	37	1	34112407	34112407	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:34112407G>A	ENST00000373381.4	-	29	4791	c.4615C>T	c.(4615-4617)Ctc>Ttc	p.L1539F	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.L412F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1499	CUB 9.					integral to membrane|plasma membrane	protein binding	p.L1499F(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TAGATATGGAGGAAGTCATAG	0.542000													8	8					0	0	0.047766	0	0
FGD5	152273	broad.mit.edu	37	3	14861826	14861826	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:14861826G>A	ENST00000285046.5	+	1	1358	c.1248G>A	c.(1246-1248)gtG>gtA	p.V416V	FGD5_ENST00000543601.1_Silent_p.V175V	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	416					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.V416V(1)|p.V175V(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGTGGTCGTGCTGGAGGAGG	0.672000													9	38					0	0	0.069234	0	0
COL4A5	1287	broad.mit.edu	37	X	107807133	107807133	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:107807133C>A	ENST00000328300.6	+	4	497	c.253C>A	c.(253-255)Cca>Aca	p.P85T	COL4A5_ENST00000361603.2_Missense_Mutation_p.P85T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	85	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P85T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AATTCCAGGGCCACCAGGACC	0.328000									Alport syndrome with Diffuse Leiomyomatosis				13	29					1.15088e-07	1.4196e-07	0.028581	1	0
GRIN3A	116443	broad.mit.edu	37	9	104433358	104433358	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:104433358T>C	ENST00000361820.3	-	3	1936	c.1336A>G	c.(1336-1338)Agt>Ggt	p.S446G		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	446					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.S446G(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATGGAACCACTGAGGCCTCTG	0.458000													24	66					0	0	0.091800	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455264	84455264	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:84455264G>A	ENST00000377084.2	-	1	1264	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	127						integral to membrane		p.L127L(1)		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)		TCCAGCCCCAGAAAAGTCTGC	0.483000													19	107					0	0	0.055883	0	0
ATM	472	broad.mit.edu	37	11	108205768	108205768	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:108205768G>A	ENST00000278616.4	+	55	8468	c.8083G>A	c.(8083-8085)Ggt>Agt	p.G2695S	ATM_ENST00000452508.2_Missense_Mutation_p.G2695S|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2695			G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G2695S(4)|p.G2695C(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTAGCAGGAGGTGTAAATTT	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			28	36					0	0	0.108266	0	0
ZNF626	199777	broad.mit.edu	37	19	20808333	20808333	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:20808333C>A	ENST00000601440.1	-	4	496	c.350G>T	c.(349-351)tGt>tTt	p.C117F	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C117F(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						CACACTTATACATCCTTTTTT	0.338000													43	27					1.03325e-14	1.51332e-14	0.042209	1	0
RIPPLY2	134701	broad.mit.edu	37	6	84563492	84563492	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:84563492G>T	ENST00000369689.1	+	2	325	c.174_splice	c.e2+1	p.A58_splice	RIPPLY2_ENST00000369687.1_5'UTR	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	58					somite rostral/caudal axis specification	nucleus		p.A58A(1)		large_intestine(2)|lung(4)|urinary_tract(1)	7						CCGCGGAGGCGGTGAGTGAGC	0.667000													7	7					3.09899e-07	3.76797e-07	0.047766	1	0
VN1R2	317701	broad.mit.edu	37	19	53762292	53762292	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:53762292C>G	ENST00000341702.3	+	1	748	c.664C>G	c.(664-666)Ctg>Gtg	p.L222V		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	222					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.L222V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTTCCACATGCTGGTAAATGC	0.448000													30	50					0	0	0.050027	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090570	115090570	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:115090570A>C	ENST00000361283.1	+	3	1562	c.1253A>C	c.(1252-1254)gAg>gCg	p.E418A		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	418	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	p.E418A(1)									GTGTCTCCAGAGCTTCGCAAA	0.557000													5	95					0	0	0.021553	0	0
AKAP11	11215	broad.mit.edu	37	13	42869861	42869861	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:42869861G>T	ENST00000025301.2	+	5	374	c.199G>T	c.(199-201)Gat>Tat	p.D67Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	67					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.D67Y(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGAAGAGACAGATGCTGCTCA	0.348000													37	50					6.48837e-15	9.52124e-15	0.039052	1	0
CDH20	28316	broad.mit.edu	37	18	59195340	59195340	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:59195340C>A	ENST00000262717.4	+	7	1556	c.1158C>A	c.(1156-1158)ccC>ccA	p.P386P	CDH20_ENST00000536675.2_Silent_p.P386P|CDH20_ENST00000538374.1_Silent_p.P386P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	386	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P386P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGGACGAGCCCCCTGTGTTTG	0.512000													28	216					3.65163e-15	5.3999e-15	0.030593	1	0
ATXN7L3	56970	broad.mit.edu	37	17	42274678	42274678	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:42274678T>C	ENST00000389384.4	-	3	582	c.274A>G	c.(274-276)Agc>Ggc	p.S92G	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S92G	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	92					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	p.S92G(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGGCAATGCTGCGACTGCAA	0.597000													22	118					0	0	0.069288	0	0
DUSP9	1852	broad.mit.edu	37	X	152914962	152914962	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:152914962C>A	ENST00000342782.3	+	3	914	c.649C>A	c.(649-651)Cgg>Agg	p.R217R	DUSP9_ENST00000370167.4_Silent_p.R217R			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	217	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.R217R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCAGTGCCCGGGATTCCGC	0.597000													33	66					4.74835e-14	6.88871e-14	0.045705	1	0
FBN2	2201	broad.mit.edu	37	5	127666358	127666358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:127666358G>A	ENST00000508053.1	-	39	5226	c.4252C>T	c.(4252-4254)Cag>Tag	p.Q1418*	FBN2_ENST00000508989.1_Nonsense_Mutation_p.Q1385*|FBN2_ENST00000507835.1_Nonsense_Mutation_p.Q268*|FBN2_ENST00000262464.4_Nonsense_Mutation_p.Q1418*			P35556	FBN2_HUMAN	fibrillin 2	1418	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q1418*(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATGCTACACTGGTGGGTTCCA	0.463000													23	28					0	0	0.108266	0	0
FAM71C	196472	broad.mit.edu	37	12	100042084	100042084	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:100042084C>A	ENST00000324341.1	+	1	554	c.132C>A	c.(130-132)ccC>ccA	p.P44P	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	44								p.P44P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GGTATGCACCCATGTTTGAGA	0.522000													12	89					0.00136819	0.00147819	0.093190	1	0
MAPK4	5596	broad.mit.edu	37	18	48256146	48256146	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:48256146C>T	ENST00000400384.2	+	6	2722	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.G351G	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	562					cell cycle		ATP binding|MAP kinase activity	p.D563H(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ATAAACTGGGCGACCTCAATG	0.667000													9	6					0	0	0.058154	0	0
SYT9	143425	broad.mit.edu	37	11	7335047	7335047	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:7335047G>T	ENST00000318881.6	+	3	1156	c.919G>T	c.(919-921)Gtg>Ttg	p.V307L	SYT9_ENST00000396716.2_Missense_Mutation_p.V275L	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	307	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.V307L(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCACTTCTCTGTGTACGACTT	0.468000													113	140					2.73796e-65	5.54836e-65	0.048971	1	0
LINGO2	158038	broad.mit.edu	37	9	27949528	27949528	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:27949528A>C	ENST00000379992.2	-	6	1591	c.1142T>G	c.(1141-1143)aTg>aGg	p.M381R	LINGO2_ENST00000308675.3_Missense_Mutation_p.M381R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	381	LRRCT.					integral to membrane		p.M381R(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCCAGCACACATAGGTTGCTG	0.512000													35	26					0	0	0.059317	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927894	92927894	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:92927894G>T	ENST00000373079.3	-	1	673	c.410C>A	c.(409-411)gCt>gAt	p.A137D	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	137					nucleosome assembly	chromatin assembly complex		p.A137D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GTTGAGTTCAGCATATTTTCT	0.388000													25	47					8.24728e-16	1.2485e-15	0.099896	1	0
PILRB	29990	broad.mit.edu	37	7	99956677	99956677	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:99956677G>T	ENST00000310771.4	+	16	2925	c.429G>T	c.(427-429)aaG>aaT	p.K143N	PILRB_ENST00000452089.1_Missense_Mutation_p.K143N|PILRB_ENST00000444874.1_Missense_Mutation_p.G74W|PILRB_ENST00000448382.1_Missense_Mutation_p.G196W|PILRB_ENST00000444073.1_Missense_Mutation_p.K143N			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	143	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	p.K143N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTCCATCAAGGGGACCAAAC	0.567000													20	29					1.33834e-09	1.74943e-09	0.043863	1	0
LST3	0	broad.mit.edu	37	12	21229503	21229503	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:21229503G>T	ENST00000540229.1	+	15	2113	c.2048_splice	c.e15+1	p.G683_splice	LST3_ENST00000381541.3_Splice_Site_p.G622_splice|SLCO1B7_ENST00000554957.1_Splice_Site_p.G622_splice|RP11-125O5.2_ENST00000590779.1_Splice_Site_p.V76_splice|SLCO1B3_ENST00000553473.1_Splice_Site_p.G683_splice|SLCO1B7_ENST00000421593.2_Splice_Site_p.G575_splice														p.G575V(1)									ACATATTTGGGGTAAGTTGTC	0.313000													30	45					2.47511e-08	3.10808e-08	0.037714	1	0
FSTL5	56884	broad.mit.edu	37	4	162380415	162380415	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:162380415C>A	ENST00000306100.5	-	14	2101	c.1665G>T	c.(1663-1665)caG>caT	p.Q555H	FSTL5_ENST00000379164.4_Missense_Mutation_p.Q554H|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q554H|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q545H	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	555						extracellular region	calcium ion binding	p.Q555H(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCACCCAGACCTGATCATGTG	0.363000													44	24					1.17673e-23	2.03012e-23	0.048971	1	0
FBXL7	23194	broad.mit.edu	37	5	15928457	15928457	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:15928457T>A	ENST00000504595.1	+	3	1067	c.586T>A	c.(586-588)Tgc>Agc	p.C196S	FBXL7_ENST00000329673.7_Missense_Mutation_p.C184S|FBXL7_ENST00000510662.1_Missense_Mutation_p.C149S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	196					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.C196S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGTCAGTGGCTGCAGGCGGCT	0.607000													8	19					0	0	0.038147	0	0
GPRC5B	51704	broad.mit.edu	37	16	19873217	19873217	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:19873217G>C	ENST00000300571.2	-	3	1300	c.1109C>G	c.(1108-1110)cCg>cGg	p.P370R	GPRC5B_ENST00000569847.1_Missense_Mutation_p.P370R|GPRC5B_ENST00000537135.1_Missense_Mutation_p.P396R|GPRC5B_ENST00000569479.1_Missense_Mutation_p.P370R|GPRC5B_ENST00000535671.1_Missense_Mutation_p.P370R	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	370								p.P370R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCTTCTAAACGGAGCGCTGGG	0.562000													34	73					0	0	0.059317	0	0
TRPM2	7226	broad.mit.edu	37	21	45819256	45819256	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:45819256A>T	ENST00000397928.1	+	14	2585	c.2140A>T	c.(2140-2142)Aag>Tag	p.K714*	TRPM2_ENST00000397932.2_Nonsense_Mutation_p.K714*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.K694*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.K714*	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	714						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.K714*(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCCTGGGGGAAGACCACCTG	0.622000													10	29					0	0	0.080935	0	0
RYR3	6263	broad.mit.edu	37	15	34064146	34064146	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:34064146C>A	ENST00000389232.4	+	63	8912	c.8842C>A	c.(8842-8844)Ctg>Atg	p.L2948M	RYR3_ENST00000415757.3_Missense_Mutation_p.L2948M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2948					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L2948M(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGCTCAGAGCTGGTGAAGGC	0.448000													7	5					0.000157383	0.000175994	0.038147	1	0
RNF113A	7737	broad.mit.edu	37	X	119004598	119004598	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:119004598C>A	ENST00000371442.2	-	1	1193	c.979G>T	c.(979-981)Ggt>Tgt	p.G327C		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	327							nucleic acid binding|zinc ion binding	p.G327C(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TCGGAAGCACCACCCTCTCCT	0.443000													117	217					2.78246e-50	5.5074e-50	0.048971	1	0
GDA	9615	broad.mit.edu	37	9	74828893	74828893	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:74828893C>G	ENST00000358399.3	+	5	657	c.564C>G	c.(562-564)atC>atG	p.I188M	GDA_ENST00000545168.1_Missense_Mutation_p.I114M|GDA_ENST00000376986.1_Missense_Mutation_p.I146M|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.I188M|GDA_ENST00000376989.3_Missense_Mutation_p.I163M	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	188					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.I188M(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGGAATCGATCAAGGAAACTG	0.418000													10	34					0	0	0.058154	0	0
PLAUR	5329	broad.mit.edu	37	19	44171830	44171830	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:44171830C>A	ENST00000221264.4	-	2	495	c.69G>T	c.(67-69)ctG>ctT	p.L23L	PLAUR_ENST00000340093.3_Silent_p.L23L|PLAUR_ENST00000339082.3_Silent_p.L23L|PLAUR_ENST00000601723.1_Silent_p.L23L	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	23	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	p.L23L(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCATGCACCGCAGGCCCCAAG	0.612000													10	25					7.48243e-07	8.96955e-07	0.058154	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55340893	55340893	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:55340893C>A	ENST00000391728.4	+	7	1111	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.L343I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.L360I|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.L265I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.L343I	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.L360I(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		cttctttctccttcatctcTG	0.532000													9	24					1.49906e-05	1.73456e-05	0.020292	1	0
LAMA3	3909	broad.mit.edu	37	18	21508618	21508618	+	Silent	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:21508618A>C	ENST00000313654.9	+	64	8566	c.8325A>C	c.(8323-8325)ggA>ggC	p.G2775G	LAMA3_ENST00000399516.3_Silent_p.G2719G|LAMA3_ENST00000269217.6_Silent_p.G1166G|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.G1110G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2775	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G1166G(1)|p.G2775G(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCCAGAGGAGGACAATTGA	0.428000													41	333					0	0	0.048971	0	0
TRIM72	493829	broad.mit.edu	37	16	31230652	31230652	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:31230652G>T	ENST00000322122.3	+	4	813	c.529G>T	c.(529-531)Ggc>Tgc	p.G177C		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	177					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	p.G177C(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GGAGCAGCTGGGCAAGATGCG	0.667000													47	80					1.72184e-34	3.22476e-34	0.048971	1	0
UBA6	55236	broad.mit.edu	37	4	68562390	68562390	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:68562390G>C	ENST00000322244.4	-	2	166	c.107C>G	c.(106-108)tCt>tGt	p.S36C	UBA6_ENST00000420827.2_Missense_Mutation_p.S36C	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	36					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.S36C(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GATTTCCACAGATGCTGTTGA	0.284000													19	37					0	0	0.055883	0	0
PKNOX2	63876	broad.mit.edu	37	11	125255501	125255501	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:125255501C>A	ENST00000298282.9	+	6	553	c.282C>A	c.(280-282)acC>acA	p.T94T	PKNOX2_ENST00000542175.1_Silent_p.T30T|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	94						nucleus	sequence-specific DNA binding transcription factor activity	p.T94T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AACAGGCCACCCAGGGCTCTG	0.557000													10	50					0.00136819	0.00147819	0.093190	1	0
OR51F2	119694	broad.mit.edu	37	11	4843368	4843368	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:4843368C>A	ENST00000322110.5	+	1	818	c.753C>A	c.(751-753)gcC>gcA	p.A251A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A251A(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCGGAAAGCCTTCAACACCT	0.502000													20	49					9.7654e-05	0.000110655	0.043863	1	0
FRG1	2483	broad.mit.edu	37	4	190878613	190878613	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:190878613A>G	ENST00000226798.4	+	6	715	c.493A>G	c.(493-495)Ata>Gta	p.I165V	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	165					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.I165V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGCAGGGGACATAGAAGCAAA	0.378000													3	43					0	0	0.021553	0	0
TRIM69	140691	broad.mit.edu	37	15	45047534	45047534	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:45047534A>G	ENST00000559390.1	+	3	1371	c.443A>G	c.(442-444)aAg>aGg	p.K148R	TRIM69_ENST00000329464.4_Missense_Mutation_p.K148R|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000561043.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	148	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding	p.K148R(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GGGCAGTCTAAGGAGTTCCTG	0.468000													17	44					0	0	0.049695	0	0
OTC	5009	broad.mit.edu	37	X	38271170	38271170	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:38271170C>A	ENST00000039007.4	+	9	1075	c.923C>A	c.(922-924)cCa>cAa	p.P308Q	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	308					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	p.P308Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CCCAGAAAGCCAGAAGAAGTG	0.423000													89	153					7.61764e-41	1.4698e-40	0.048971	1	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													3	52					0	0	0.021553	0	0
BTK	695	broad.mit.edu	37	X	100626677	100626677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:100626677C>A	ENST00000308731.7	-	4	416	c.253G>T	c.(253-255)Gag>Tag	p.E85*	BTK_ENST00000372880.1_Nonsense_Mutation_p.E85*	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	85	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.E85*(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCACTGGACTCTTCACCTCTT	0.393000									Agammaglobulinemia, X-linked				9	149					2.74318e-10	3.67356e-10	0.058154	1	0
UPF3B	65109	broad.mit.edu	37	X	118979170	118979170	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:118979170T>A	ENST00000276201.2	-	4	529	c.460A>T	c.(460-462)Atc>Ttc	p.I154F	UPF3B_ENST00000345865.2_Missense_Mutation_p.I154F|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	154	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.I154F(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CCATCATCGATAGTCCCGACT	0.333000													24	152					0	0	0.099896	0	0
BAGE2	85319	broad.mit.edu	37	21	11039181	11039181	+	RNA	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:11039181G>A	ENST00000470054.1	-	0	1022									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTAGTGGAAGAGTGACAGAT	0.423000													17	192					0	0	0.028581	0	0
TGM3	7053	broad.mit.edu	37	20	2321104	2321104	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:2321104G>T	ENST00000381458.5	+	13	2022	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	653					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.E653D(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGCCCAAGGAGGGGTCCCGGG	0.612000													24	113					2.2171e-23	3.8164e-23	0.041601	1	0
SEC24D	9871	broad.mit.edu	37	4	119686060	119686060	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:119686060T>C	ENST00000379735.5	-	10	1467	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.Y29C|SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.Y398C	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	398					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.Y398C(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATGTTGGAAATAGAATGGTGG	0.318000													20	104					0	0	0.043863	0	0
ZNF454	285676	broad.mit.edu	37	5	178391974	178391974	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:178391974G>T	ENST00000320129.3	+	5	872	c.569G>T	c.(568-570)aGt>aTt	p.S190I	ZNF454_ENST00000519564.1_Missense_Mutation_p.S190I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S190I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TTCTCTAAGAGTTCAACTCTT	0.333000													7	47					2.0095e-06	2.36812e-06	0.029380	1	0
PEG3	5178	broad.mit.edu	37	19	57330040	57330040	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:57330040G>A	ENST00000326441.9	-	8	1063	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F	PEG3_ENST00000593695.1_Missense_Mutation_p.L108F|ZIM2_ENST00000593711.1_Missense_Mutation_p.L109F|ZIM2_ENST00000601070.1_Missense_Mutation_p.L109F|PEG3_ENST00000423103.2_Missense_Mutation_p.L234F|PEG3_ENST00000598410.1_Missense_Mutation_p.L109F|ZIM2_ENST00000221722.5_Missense_Mutation_p.L109F|ZIM2_ENST00000391708.3_Missense_Mutation_p.L109F|ZIM2_ENST00000599935.1_Missense_Mutation_p.L109F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	234					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L234F(2)|p.L109F(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTCAGCGAGGTCCACCACA	0.483000													46	86					0	0	0.048971	0	0
GTF2F1	2962	broad.mit.edu	37	19	6380419	6380419	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:6380419T>G	ENST00000394456.5	-	13	1891	c.1427A>C	c.(1426-1428)aAg>aCg	p.K476T	GTF2F1_ENST00000429701.2_Missense_Mutation_p.K391T	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	476					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	p.K476T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGTCTGGAACTTTTTCAGCAG	0.587000													7	121					0	0	0.029380	0	0
FTO	79068	broad.mit.edu	37	16	53967990	53967990	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:53967990C>T	ENST00000471389.1	+	8	1555	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	FTO_ENST00000463855.1_Missense_Mutation_p.R67C|FTO_ENST00000431610.2_Missense_Mutation_p.R46C|FTO_ENST00000394647.3_Missense_Mutation_p.R149C|FTO_ENST00000460382.1_Missense_Mutation_p.R46C	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	445					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R445C(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCTCACTGCACGCCAGAACCT	0.468000													8	38					0	0	0.038147	0	0
FAM169A	26049	broad.mit.edu	37	5	74130289	74130289	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:74130289T>G	ENST00000389156.4	-	5	542	c.452A>C	c.(451-453)aAa>aCa	p.K151T	FAM169A_ENST00000510496.1_Missense_Mutation_p.K151T|FAM169A_ENST00000380515.3_Intron	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	151								p.K151T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GGCCTCTCCTTTCTTCCACAG	0.358000													21	59					0	0	0.083992	0	0
ZNF680	340252	broad.mit.edu	37	7	63982531	63982531	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:63982531T>C	ENST00000309683.6	-	4	752	c.601A>G	c.(601-603)Ata>Gta	p.I201V	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I201V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TGAATTCTTATATGTTGTGTT	0.323000													9	27					0	0	0.058154	0	0
IGLC7	28834	broad.mit.edu	37	22	23264983	23264983	+	RNA	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:23264983C>T	ENST00000390331.1	+	0	218																											GCTACCTGAGCCTGACGCCCG	0.597000													12	10					0	0	0.093190	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462912	37462912	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:37462912C>A	ENST00000381792.2	-	18	2410	c.2270G>T	c.(2269-2271)cGc>cTc	p.R757L	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R757L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R735L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R744L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	744	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.R744L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACACAGCATGCGTGGCGTCAC	0.617000													6	21					4.36969e-10	5.80101e-10	0.105934	1	0
HECTD4	283450	broad.mit.edu	37	12	112681285	112681285	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:112681285C>A	ENST00000550722.1	-	32	4787	c.4392G>T	c.(4390-4392)agG>agT	p.R1464S	HECTD4_ENST00000377560.5_Missense_Mutation_p.R1438S|HECTD4_ENST00000430131.2_Missense_Mutation_p.R1188S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.R1188S(1)|p.R1438S(1)									CCCGCCGCCACCTTGTCTGTG	0.592000													6	7					8.12818e-05	9.22398e-05	0.029380	1	0
RASEF	158158	broad.mit.edu	37	9	85619415	85619415	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:85619415G>A	ENST00000376447.3	-	9	1460	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	400					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	p.D400D(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TAACATACCTGTCATAGCCTA	0.338000													20	32					0	0	0.069288	0	0
NLRP5	126206	broad.mit.edu	37	19	56539728	56539728	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56539728T>G	ENST00000390649.3	+	7	2129	c.2129T>G	c.(2128-2130)gTg>gGg	p.V710G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	710						mitochondrion|nucleolus	ATP binding	p.V710G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCCAAGAAGTGTGGCTTCCG	0.498000													81	134					0	0	0.048971	0	0
ZNF107	51427	broad.mit.edu	37	7	64166746	64166746	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:64166746A>G	ENST00000395391.1	+	4	1439	c.64A>G	c.(64-66)Ata>Gta	p.I22V	ZNF107_ENST00000344930.3_Missense_Mutation_p.I22V|ZNF107_ENST00000423627.1_Missense_Mutation_p.I22V			Q9UII5	ZN107_HUMAN	zinc finger protein 107	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I22V(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGAGCAGAACATAAAAGATTC	0.338000													24	58					0	0	0.041601	0	0
RAB30	27314	broad.mit.edu	37	11	82698724	82698724	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:82698724T>C	ENST00000533486.1	-	5	550	c.266A>G	c.(265-267)tAt>tGt	p.Y89C	RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000534141.1_Missense_Mutation_p.Y89C|RAB30_ENST00000527633.1_Missense_Mutation_p.Y89C|RAB30_ENST00000532548.1_Missense_Mutation_p.Y89C|RAB30_ENST00000525117.1_Missense_Mutation_p.Y61C|RAB30_ENST00000260056.2_Missense_Mutation_p.Y89C	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	89					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	p.Y89C(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGTAATGTCATAGGTGAGGAT	0.493000													34	47					0	0	0.050027	0	0
BRS3	680	broad.mit.edu	37	X	135574143	135574143	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:135574143C>A	ENST00000370648.3	+	3	1037	c.809C>A	c.(808-810)gCc>gAc	p.A270D		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	270					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	p.A270D(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAGAGAATTGCCAGAACGGTA	0.368000													57	75					5.12918e-33	9.5132e-33	0.048971	1	0
LTBP1	4052	broad.mit.edu	37	2	33585790	33585790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:33585790C>A	ENST00000404816.2	+	27	4480	c.4127C>A	c.(4126-4128)tCa>tAa	p.S1376*	LTBP1_ENST00000272273.5_Nonsense_Mutation_p.S274*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S997*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S995*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S1377*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S1050*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S1051*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S1008*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1376	TB 3.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.S1377*(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCTGTACATCAGGCGTGGGA	0.468000													37	54					1.836e-18	2.89975e-18	0.064281	1	0
BEND4	389206	broad.mit.edu	37	4	42145907	42145907	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:42145907T>A	ENST00000502486.1	-	3	1171	c.592A>T	c.(592-594)Att>Ttt	p.I198F	BEND4_ENST00000504360.1_Missense_Mutation_p.I194F	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	198								p.I194F(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ACGCAAGAAATCATGGACTGA	0.473000													9	13					0	0	0.058154	0	0
OCRL	4952	broad.mit.edu	37	X	128699806	128699806	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:128699806G>A	ENST00000371113.4	+	13	1467	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	OCRL_ENST00000357121.5_Silent_p.E434E	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	434					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.E434E(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ATGCCAATGAGGTGAAAAGTC	0.358000													78	161					0	0	0.048971	0	0
NLRP13	126204	broad.mit.edu	37	19	56424611	56424611	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56424611G>T	ENST00000588751.1	-	5	596	c.572C>A	c.(571-573)aCa>aAa	p.T191K	NLRP13_ENST00000342929.3_Missense_Mutation_p.T191K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	191							ATP binding	p.T191K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTTGTCCCATGTCTCCAGTAG	0.443000													57	147					5.5144e-22	9.40765e-22	0.048971	1	0
SPTA1	6708	broad.mit.edu	37	1	158644338	158644338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:158644338G>A	ENST00000368148.3	-	9	1420	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.Q414*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	414					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q413_Q414>H*(1)|p.Q414K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTTATGCTGCTGATGCCTG	0.512000													9	212					0	0	0.058154	0	0
ASXL3	80816	broad.mit.edu	37	18	31323007	31323007	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:31323007G>T	ENST00000269197.5	+	12	3195	c.3195G>T	c.(3193-3195)cgG>cgT	p.R1065R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1065	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.R772R(2)|p.R1065R(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACAAGCTCGGGCCCAGCGAG	0.612000													8	49					0.00448238	0.00478204	0.047766	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140752309	140752309	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:140752309A>C	ENST00000576222.1	+	1	2479	c.2348A>C	c.(2347-2349)gAt>gCt	p.D783A	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTATGTGATGAAGCCTCT	0.378000													14	15					0	0	0.020292	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811257	5811257	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:5811257C>T	ENST00000381095.3	-	6	2679	c.2052G>A	c.(2050-2052)tcG>tcA	p.S684S	NLGN4X_ENST00000381092.1_Silent_p.S684S|NLGN4X_ENST00000275857.6_Silent_p.S684S|NLGN4X_ENST00000538097.1_Silent_p.S684S|NLGN4X_ENST00000381093.2_Silent_p.S704S	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	684					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.S684S(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGAAGAGGAGCGACGCCCCGA	0.527000													28	89					0	0	0.030593	0	0
REG3G	130120	broad.mit.edu	37	2	79253910	79253910	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:79253910C>A	ENST00000272324.5	+	3	332	c.148C>A	c.(148-150)Ccc>Acc	p.P50T	REG3G_ENST00000393897.2_Missense_Mutation_p.P50T|REG3G_ENST00000409471.1_Missense_Mutation_p.P50T	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	50	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.P50T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTATGGCTCCCCCTGCTATGC	0.522000													23	35					2.32416e-17	3.62588e-17	0.069288	1	0
USP35	57558	broad.mit.edu	37	11	77916913	77916913	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:77916913G>A	ENST00000529308.1	+	7	1484	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	USP35_ENST00000526425.1_Missense_Mutation_p.R139H|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	408					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R408H(1)|p.R164H(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AATGAGGACCGCATCAAGCAG	0.582000													4	133					0	0	0.009096	0	0
NLRC5	84166	broad.mit.edu	37	16	57111715	57111715	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:57111715G>T	ENST00000436936.1	+	42	5292		c.e42+1		NLRC5_ENST00000262510.6_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site|NLRC5_ENST00000308149.7_Splice_Site			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5						defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.?(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGAGTTGATGTGAGTGTCTG	0.672000													18	22					0.00074312	0.000812026	0.038395	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209935992	209935992	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:209935992C>A	ENST00000367024.1	+	4	994	c.478C>A	c.(478-480)Ccc>Acc	p.P160T	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P140T|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P140T|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P160T|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.P140T			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	160						integral to membrane	protein binding	p.P140T(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAAGAAGCCACCCAAACACCA	0.597000													18	21					8.34094e-07	9.95196e-07	0.049695	1	0
ZPLD1	131368	broad.mit.edu	37	3	102157407	102157407	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:102157407T>A	ENST00000306176.1	+	2	224	c.124T>A	c.(124-126)Tgt>Agt	p.C42S	ZPLD1_ENST00000466937.1_Missense_Mutation_p.C26S|ZPLD1_ENST00000491959.1_Missense_Mutation_p.C26S	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	26						integral to membrane		p.C42S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CGGCTACAACTGTGATGCCAA	0.408000													14	27					0	0	0.105934	0	0
PLXND1	23129	broad.mit.edu	37	3	129293305	129293305	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:129293305G>T	ENST00000393239.1	-	12	2737	c.2559C>A	c.(2557-2559)agC>agA	p.S853R	PLXND1_ENST00000324093.4_Missense_Mutation_p.S853R			Q9Y4D7	PLXD1_HUMAN	plexin D1	853					axon guidance	integral to membrane|intracellular|plasma membrane		p.S853R(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AACAGTCGGGGCTGCCCATGG	0.672000													9	18					0.000442599	0.000487815	0.058154	1	0
BRINP3	339479	broad.mit.edu	37	1	190067374	190067374	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:190067374G>T	ENST00000367462.3	-	8	2306	c.2075C>A	c.(2074-2076)aCt>aAt	p.T692N	FAM5C_ENST00000534846.1_Missense_Mutation_p.T590N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		692						extracellular region		p.T692N(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGATCCCTGAGTATAGGGGTA	0.453000													28	93					7.01153e-11	9.55665e-11	0.034045	1	0
WASF3	10810	broad.mit.edu	37	13	27255238	27255238	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:27255238A>G	ENST00000361042.4	+	8	980	c.755A>G	c.(754-756)aAc>aGc	p.N252S	WASF3_ENST00000335327.5_Missense_Mutation_p.N255S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	255					actin filament polymerization	cytoplasm|cytoskeleton	actin binding	p.N255S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCTACTCCCAACCATTCTCTG	0.527000													16	72					0	0	0.043863	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			17	21					1.96292e-10	2.63327e-10	0.055883	1	0
MED15	51586	broad.mit.edu	37	22	20937232	20937232	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:20937232A>T	ENST00000263205.7	+	11	1584	c.1515A>T	c.(1513-1515)tcA>tcT	p.S505S	MED15_ENST00000541476.1_Silent_p.S439S|MED15_ENST00000406969.1_Silent_p.S439S|MED15_ENST00000292733.7_Silent_p.S465S|MED15_ENST00000425759.2_Silent_p.S354S|MED15_ENST00000382974.2_Silent_p.S394S|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	505	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.S465S(1)|p.S505S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGTCCCCTCACCTGGACCTT	0.617000													20	36					0	0	0.055883	0	0
TEX15	56154	broad.mit.edu	37	8	30695124	30695124	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:30695124C>T	ENST00000256246.2	-	3	7601	c.7527G>A	c.(7525-7527)tcG>tcA	p.S2509S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2509								p.S2509S(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGAGAGCACCGACGCATCAG	0.368000													26	84					0	0	0.099896	0	0
SORCS1	114815	broad.mit.edu	37	10	108923816	108923816	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:108923816C>G	ENST00000263054.6	-	1	476	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	SORCS1_ENST00000344440.6_Missense_Mutation_p.E157Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	157						integral to membrane	neuropeptide receptor activity|protein binding	p.E157Q(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGTCTCAGCTCCTCCATCCGG	0.637000													12	39					0	0	0.080935	0	0
ESX1	80712	broad.mit.edu	37	X	103495020	103495020	+	Silent	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:103495020C>G	ENST00000372588.4	-	4	1193	c.1110G>C	c.(1108-1110)ccG>ccC	p.P370P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	370	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P370P(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGCCATGGGCGGCCCGGGTG	0.697000													14	33					0	0	0.105934	0	0
ICA1L	130026	broad.mit.edu	37	2	203644316	203644316	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:203644316C>T	ENST00000392237.2	-	14	1546	c.1389G>A	c.(1387-1389)ttG>ttA	p.L463L	ICA1L_ENST00000358299.2_Silent_p.L463L	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	463								p.L463L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAGTGGATCCAAGTCTGCAA	0.378000													24	31					0	0	0.030593	0	0
TMEFF1	8577	broad.mit.edu	37	9	103310025	103310025	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:103310025G>T	ENST00000374879.4	+	6	992		c.e6-1		TMEFF1_ENST00000334943.6_Splice_Site|MSANTD3-TMEFF1_ENST00000502978.1_Splice_Site	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1									p.?(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TTTTCCAACAGGTGTGTATGT	0.348000													20	41					4.35082e-09	5.61065e-09	0.055883	1	0
ZBTB41	360023	broad.mit.edu	37	1	197169211	197169211	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:197169211T>A	ENST00000367405.4	-	1	461	c.393A>T	c.(391-393)gtA>gtT	p.V131V	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	131	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V131V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTGAATGTGTTACGTGATCCA	0.353000													23	41					0	0	0.099896	0	0
TFRC	7037	broad.mit.edu	37	3	195794416	195794416	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:195794416G>C	ENST00000360110.4	-	9	1182	c.1013C>G	c.(1012-1014)tCc>tGc	p.S338C	TFRC_ENST00000535031.1_Missense_Mutation_p.S56C|TFRC_ENST00000392396.3_Missense_Mutation_p.S338C|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.S257C	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	338					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	p.S338C(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AGCAGCTCTGGAGATTGTCTG	0.428000			T	BCL6	NHL								14	56					0	0	0.028581	0	0
TTC3	7267	broad.mit.edu	37	21	38459658	38459658	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:38459658G>T	ENST00000399017.2	+	2	2848	c.101G>T	c.(100-102)aGc>aTc	p.S34I	TTC3_ENST00000354749.2_Missense_Mutation_p.S34I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.S34I|TTC3_ENST00000355666.1_Missense_Mutation_p.S34I|TTC3_ENST00000540756.1_Intron	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	34					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S34I(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAATTTATGAGCAATGATTAT	0.398000													53	163					2.27459e-33	4.2496e-33	0.048971	1	0
WDFY3	23001	broad.mit.edu	37	4	85724621	85724621	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:85724621C>A	ENST00000322366.6	-	16	2837		c.e16-1		WDFY3_ENST00000295888.4_Splice_Site|WDFY3_ENST00000512267.1_Splice_Site|WDFY3-AS1_ENST00000510449.1_RNA			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.?(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATATGCATGCCTATAAAAAAA	0.368000													20	35					3.62473e-10	4.82877e-10	0.062417	1	0
HERC4	26091	broad.mit.edu	37	10	69700696	69700696	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:69700696C>A	ENST00000395198.3	-	21	2775	c.2528_splice	c.e21+1	p.R843_splice	HERC4_ENST00000373700.4_Splice_Site_p.R835_splice|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Splice_Site_p.R733_splice|HERC4_ENST00000412272.2_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	843	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	p.R843I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCCAACTAACCTCCCAACATC	0.358000													40	81					2.45108e-15	3.6599e-15	0.104719	1	0
RRP1B	23076	broad.mit.edu	37	21	45106693	45106693	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:45106693A>G	ENST00000340648.4	+	12	1135	c.1018A>G	c.(1018-1020)Ata>Gta	p.I340V		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	340					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	p.I340V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AGGAAGCAGTATATCTCAACT	0.473000													25	35					0	0	0.091800	0	0
MED12	9968	broad.mit.edu	37	X	70345279	70345279	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:70345279C>A	ENST00000333646.6	+	16	2504	c.2305C>A	c.(2305-2307)Cat>Aat	p.H769N	MED12_ENST00000374102.1_Missense_Mutation_p.H769N|MED12_ENST00000374080.3_Missense_Mutation_p.H769N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	769					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.H769N(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGATGCCCGCCATGCCATCAA	0.532000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						12	32					5.50884e-06	6.43257e-06	0.093190	1	0
NLRP5	126206	broad.mit.edu	37	19	56544988	56544988	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56544988A>T	ENST00000390649.3	+	9	2528	c.2528A>T	c.(2527-2529)aAc>aTc	p.N843I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	843						mitochondrion|nucleolus	ATP binding	p.N843I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGATCCCTCAACTTGGGAGGC	0.502000													93	130					0	0	0.048971	0	0
ROBO4	54538	broad.mit.edu	37	11	124756669	124756669	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:124756669C>A	ENST00000306534.3	-	16	2970	c.2485G>T	c.(2485-2487)Ggg>Tgg	p.G829W	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.G684W	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	829					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.G829W(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTGATGTACCCATAGGTGGTG	0.617000													13	52					4.7546e-09	6.11078e-09	0.028581	1	0
FMNL1	752	broad.mit.edu	37	17	43321390	43321390	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:43321390C>T	ENST00000331495.3	+	18	2782	c.2446C>T	c.(2446-2448)Ccg>Tcg	p.P816S	FMNL1_ENST00000587489.1_Missense_Mutation_p.P394S|FMNL1_ENST00000328118.3_Missense_Mutation_p.P816S	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	816	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.P816S(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCTGCTCATGCCGGTGTGGGC	0.672000													3	44					0	0	0.004672	0	0
APOB	338	broad.mit.edu	37	2	21233989	21233989	+	Silent	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:21233989G>C	ENST00000233242.1	-	26	5878	c.5751C>G	c.(5749-5751)ctC>ctG	p.L1917L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1917					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L1917L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCAGAGAGCGAGTTTCCCAT	0.443000													88	179					0	0	0.048971	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555076	178555076	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:178555076T>A	ENST00000251582.7	-	17	2602	c.2501A>T	c.(2500-2502)tAc>tTc	p.Y834F		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	834	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y834F(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGATCATGTATTTGTACGT	0.577000													30	33					0	0	0.059317	0	0
AFP	174	broad.mit.edu	37	4	74313357	74313357	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:74313357A>G	ENST00000395792.2	+	8	1122	c.1022A>G	c.(1021-1023)cAa>cGa	p.Q341R	AFP_ENST00000226359.2_Missense_Mutation_p.Q341R	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	341	Albumin 2.				transport		metal ion binding	p.Q341R(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATTTTAACCAATTTTCTTCA	0.353000									Alpha-Fetoprotein, Hereditary Persistence of				13	23					0	0	0.033300	0	0
ATP10B	23120	broad.mit.edu	37	5	160047932	160047932	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:160047932G>T	ENST00000327245.5	-	15	2684	c.1838C>A	c.(1837-1839)gCt>gAt	p.A613D	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	613					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A613D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTCCCCAGAGCCTTGCTTGA	0.468000													52	214					3.74213e-36	7.06027e-36	0.048971	1	0
COL24A1	255631	broad.mit.edu	37	1	86210400	86210400	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:86210400G>T	ENST00000370571.2	-	57	4987	c.4621C>A	c.(4621-4623)Cca>Aca	p.P1541T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1520T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1541	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent	p.P1541T(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTCGTGCTGGGTTATCTCGT	0.368000													25	30					4.7796e-09	6.13262e-09	0.099896	1	0
WDR90	197335	broad.mit.edu	37	16	705382	705382	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:705382C>T	ENST00000549091.1	+	15	1724	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Silent_p.D544D	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	544								p.D544D(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCCCGTGGACTTAGGGGAGC	0.697000													4	13					0	0	0.014758	0	0
PJA1	64219	broad.mit.edu	37	X	68381584	68381584	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:68381584C>T	ENST00000361478.1	-	2	1875	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	PJA1_ENST00000374571.4_Missense_Mutation_p.D445N|PJA1_ENST00000374583.1_Missense_Mutation_p.D500N|PJA1_ENST00000374584.3_Missense_Mutation_p.D312N	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	500							zinc ion binding	p.D500N(1)|p.D312N(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ACACTGGAGTCATCTTCAAGG	0.483000													70	134					0	0	0.048971	0	0
KRT28	162605	broad.mit.edu	37	17	38955966	38955966	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:38955966G>A	ENST00000306658.7	-	1	245	c.180C>T	c.(178-180)agC>agT	p.S60S		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	60	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity	p.S60S(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CACCAGCATGGCTCCCACCAG	0.547000													47	33					0	0	0.048971	0	0
NAA25	80018	broad.mit.edu	37	12	112516017	112516017	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:112516017C>A	ENST00000261745.4	-	7	887	c.639G>T	c.(637-639)ttG>ttT	p.L213F		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	213						cytoplasm	protein binding	p.L213F(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGATGACATCCAAGGCCTCCT	0.299000													35	53					1.38162e-09	1.80293e-09	0.104719	1	0
MAST4	375449	broad.mit.edu	37	5	66255082	66255082	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:66255082G>T	ENST00000405643.1	+	1	385	c.7G>T	c.(7-9)Gcc>Tcc	p.A3S	MAST4_ENST00000406039.1_Intron|MAST4_ENST00000406374.1_Intron|MAST4_ENST00000490016.2_Intron|MAST4_ENST00000407621.1_Missense_Mutation_p.A3S|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000403625.2_Intron|MAST4_ENST00000403666.1_Intron			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1092						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCATGAAAGCCCAGCGGGA	0.478000													10	37					0.000673444	0.00073694	0.069234	1	0
ATP13A2	23400	broad.mit.edu	37	1	17330859	17330859	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:17330859C>A	ENST00000452699.1	-	6	699	c.510G>T	c.(508-510)tgG>tgT	p.W170C	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.W170C|ATP13A2_ENST00000326735.8_Missense_Mutation_p.W175C	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	175					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.W175C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGGTCTCGATCCAGATATAGC	0.617000													4	22					0.0293803	0.030495	0.029380	1	0
MAPK4	5596	broad.mit.edu	37	18	48256147	48256147	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:48256147G>C	ENST00000400384.2	+	6	2723	c.1687G>C	c.(1687-1689)Gac>Cac	p.D563H	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Missense_Mutation_p.D352H	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	563					cell cycle		ATP binding|MAP kinase activity	p.D563H(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TAAACTGGGCGACCTCAATGG	0.672000													9	6					0	0	0.058154	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525976	176525976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:176525976delC	ENST00000367662.3	+	2	1682	c.518delC	c.(517-519)acfs	p.T174fs	PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.T174fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	174	Poly-Thr.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCACTACTACCACCGCCATT	0.577													55	133	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216538348	216538348	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:216538348delC	ENST00000366943.2	-	4	1117	c.731delG	c.(730-732)gtfs	p.G244fs	USH2A_ENST00000366942.3_Frame_Shift_Del_p.G244fs|USH2A_ENST00000307340.3_Frame_Shift_Del_p.G244fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	244					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTAATTGAACCACTTAGAGT	0.353										HNSCC(13;0.011)			23	47	---	---	---	---					
FAHD2CP	729234	broad.mit.edu	37	2	96687233	96687234	+	RNA	DEL	AG	AG	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:96687233_96687234delAG	ENST00000607780.1	+	0	1061																											TGAAAAGCAAAGAGAGCAAGGG	0.559													4	5	---	---	---	---					
TANC1	85461	broad.mit.edu	37	2	160028721	160028721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:160028721delG	ENST00000263635.6	+	11	1678	c.1441delG	c.(1441-1443)ggfs	p.G481fs	TANC1_ENST00000454300.1_Frame_Shift_Del_p.G375fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	481						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AACACCTCTTGGGTCTATCAG	0.453													32	66	---	---	---	---					
VILL	50853	broad.mit.edu	37	3	38044020	38044022	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:38044020_38044022delTCT	ENST00000283713.6	+	14	1879_1881	c.1613_1615delTCT	c.(1612-1617)atc>a	p.IF538del	VILL_ENST00000383759.2_In_Frame_Del_p.IF538del|VILL_ENST00000465644.1_In_Frame_Del_p.IF256del			O15195	VILL_HUMAN	villin-like	538					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCCAGTGACATCTTCTTGCTGGT	0.571													20	79	---	---	---	---					
SEMA3F	6405	broad.mit.edu	37	3	50225491	50225491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:50225491delT	ENST00000002829.3	+	19	2785	c.2301delT	c.(2299-2301)ccfs	p.P767fs	SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P736fs|SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P668fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	767	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCCGGTCTCCTGAGCCCCAGG	0.687													2	4	---	---	---	---					
SI	6476	broad.mit.edu	37	3	164758880	164758880	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:164758880delA	ENST00000264382.3	-	18	2069	c.2007delT	c.(2005-2007)cafs	p.H669fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	669	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGGATCCTGATGCTGTGAGA	0.323										HNSCC(35;0.089)			23	71	---	---	---	---					
MUC7	4589	broad.mit.edu	37	4	71347137	71347137	+	Frame_Shift_Del	DEL	C	C	-	rs144213977		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:71347137delC	ENST00000413702.1	+	4	964	c.676delC	c.(676-678)cafs	p.P226fs	MUC7_ENST00000456088.1_Frame_Shift_Del_p.P226fs|MUC7_ENST00000304887.5_Frame_Shift_Del_p.P226fs	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	226	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCAGCTCCACCATCTTCCTC	0.582													82	76	---	---	---	---					
FAT4	79633	broad.mit.edu	37	4	126242180	126242181	+	Frame_Shift_Ins	INS	-	-	CCATCAG			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:126242180_126242181insCCATCAG	ENST00000394329.3	+	1	4627_4628	c.4614_4615insCCATCAG	c.(4612-4617)gacatcfs	p.I1539fs		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1539	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGCTGCAGACCCATCAGCTGT	0.436													20	289	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130799906	130799906	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:130799906delC	ENST00000509018.1	-	18	2513	c.2308delG	c.(2308-2310)acfs	p.D770fs	RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.D770fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.D820fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.D770fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.D775fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.D485fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.D770fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Del_p.D770fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	770	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCTGTGGTGTCTTTACTGATG	0.353													28	37	---	---	---	---					
IL22RA2	116379	broad.mit.edu	37	6	137479601	137479602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:137479601_137479602insC	ENST00000296980.2	-	3	379_380	c.79_80insG	c.(79-81)gtcfs	p.V27fs	IL22RA2_ENST00000339602.3_Frame_Shift_Ins_p.V27fs|IL22RA2_ENST00000349184.4_Frame_Shift_Ins_p.V27fs	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	27	Fibronectin type-III 1.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		CTTCAGAGACTCATGCGTTGAC	0.460													30	112	---	---	---	---					
ARPC1A	10552	broad.mit.edu	37	7	98963515	98963515	+	Splice_Site	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:98963515delC	ENST00000262942.5	+	10	1200	c.1074_splice	c.e10-1	p.T359_splice	ARPC1A_ENST00000432884.2_Intron	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	359					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTCCAAGACCCTCGAGTCT	0.577													2	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369721	100369721	+	RNA	DEL	T	T	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:100369721delT	ENST00000542585.1	+	0	5573				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ctctaaattcttttttttttt	0.532													3	4	---	---	---	---					
LRGUK	136332	broad.mit.edu	37	7	133812369	133812370	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:133812369_133812370insT	ENST00000285928.2	+	1	318_319	c.249_250insT	c.(247-252)ggaggcfs	p.G84fs	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	84							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AGGGCGAGGGCGAGGCGGGATC	0.614													41	74	---	---	---	---					
TRBV7-8	28590	broad.mit.edu	37	7	142099597	142099597	+	RNA	DEL	G	G	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:142099597delG	ENST00000390359.3	-	0	243																											GCTTCATTCTGGAAATAAGTC	0.517													44	68	---	---	---	---					
POTEA	340441	broad.mit.edu	37	8	43169415	43169415	+	RNA	DEL	G	G	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:43169415delG	ENST00000522175.2	+	0	768							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATCACTTTTTGGCAAAATATA	0.378													3	3	---	---	---	---					
TMEM64	169200	broad.mit.edu	37	8	91643913	91643913	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:91643913delT	ENST00000458549.2	-	2	995	c.818delA	c.(817-819)acfs	p.N273fs	TMEM64_ENST00000519519.1_Frame_Shift_Del_p.N12fs|TMEM64_ENST00000418210.2_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	273						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			CATCAGATAGTTGGGTAATGA	0.383													9	192	---	---	---	---					
NTRK2	4915	broad.mit.edu	37	9	87342645	87342645	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:87342645delC	ENST00000304053.6	+	9	1413	c.930delC	c.(928-930)aafs	p.N310fs	NTRK2_ENST00000395882.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000323115.4_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.N154fs|NTRK2_ENST00000277120.3_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.N310fs	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	310	Ig-like C2-type 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGAAAGGCAACCCCAAACCAG	0.423										TSP Lung(25;0.17)			12	42	---	---	---	---					
TMEM246	84302	broad.mit.edu	37	9	104238293	104238293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:104238293delC	ENST00000374851.1	-	4	2229	c.1082delG	c.(1081-1083)gcfs	p.G361fs	RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Frame_Shift_Del_p.G361fs|TMEM246_ENST00000374848.3_Frame_Shift_Del_p.G361fs			Q9BRR3	CI125_HUMAN	transmembrane protein 246	361						integral to membrane											CATGTCCTTGCCAAAGCCCTT	0.612													11	22	---	---	---	---					
CEP164P1	100289237	broad.mit.edu	37	10	45551549	45551549	+	RNA	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:45551549delC	ENST00000456938.2	-	0	411																											AAATTTGGCTCCAAAAATTGA	0.413													6	6	---	---	---	---					
MYOF	26509	broad.mit.edu	37	10	95169426	95169426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:95169426delC	ENST00000371501.4	-	6	626	c.504delG	c.(502-504)ggfs	p.G168fs	MYOF_ENST00000359263.4_Frame_Shift_Del_p.G168fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.G168fs|MYOF_ENST00000371489.1_Frame_Shift_Del_p.G168fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.G168fs			Q9NZM1	MYOF_HUMAN	myoferlin	168					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCCAACTGGCCCCTTGGGCC	0.542													164	265	---	---	---	---					
NELL1	4745	broad.mit.edu	37	11	21555993	21555993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:21555993delC	ENST00000298925.5	+	17	1956	c.1803delC	c.(1801-1803)tafs	p.Y601fs	NELL1_ENST00000325319.5_Frame_Shift_Del_p.Y516fs|NELL1_ENST00000357134.5_Frame_Shift_Del_p.Y573fs|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000529218.1_3'UTR			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	573	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CAGGGTGGTACCACTGTGAGT	0.517													21	67	---	---	---	---					
TRIM51HP	440041	broad.mit.edu	37	11	55065653	55065653	+	RNA	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:55065653delC	ENST00000526016.1	-	0	55					NR_038174.2																						AAAAGCTGTGCCCACAGTCTA	0.488													18	55	---	---	---	---					
OR5T2	219464	broad.mit.edu	37	11	55999938	55999938	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:55999938delC	ENST00000313264.4	-	1	799	c.724delG	c.(724-726)tgfs	p.V242fs		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATAGAGCCCACAAAGTAGAAG	0.433													60	86	---	---	---	---					
LINC00987	100499405	broad.mit.edu	37	12	9392739	9392740	+	RNA	INS	-	-	TCTTCCTCCTCC	rs71045240		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:9392739_9392740insTCTTCCTCCTCC	ENST00000427111.3	+	0	141_142					NR_036466.1																						caccatcaccttcttcctcccc	0.545													3	5	---	---	---	---					
DCLK1	9201	broad.mit.edu	37	13	36686012	36686012	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:36686012delC	ENST00000255448.4	-	3	928	c.717delG	c.(715-717)ggfs	p.G239fs	DCLK1_ENST00000379892.4_Frame_Shift_Del_p.G239fs|DCLK1_ENST00000360631.3_Frame_Shift_Del_p.G239fs	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	239	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTACCTGTTTCCCATCCAACG	0.483													13	81	---	---	---	---					
ZC3H13	23091	broad.mit.edu	37	13	46549613	46549616	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:46549613_46549616delCTCT	ENST00000242848.4	-	12	2618_2621	c.2270_2273delAGAG	c.(2269-2274)ggfs	p.ER775fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.ER775fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	775	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctctctctccctctctctctcttc	0.529													30	33	---	---	---	---					
GPC6	10082	broad.mit.edu	37	13	94482692	94482704	+	Frame_Shift_Del	DEL	ACGTGCCCCGGAA	ACGTGCCCCGGAA	-	rs143089233		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:94482692_94482704delACGTGCCCCGGAA	ENST00000377047.4	+	3	1220_1232	c.605_617delACGTGCCCCGGAA	c.(604-618)gafs	p.DVPRK202fs	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	202						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.V203L(1)|p.V203M(1)|p.P204H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCATTTGGAGACGTGCCCCGGAAACTGAAGATT	0.502													9	50	---	---	---	---					
ECRP	643332	broad.mit.edu	37	14	21388012	21388013	+	RNA	INS	-	-	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:21388012_21388013insA	ENST00000258817.2	+	0	282_283				RP11-219E7.4_ENST00000553534.1_lincRNA|RP11-84C10.3_ENST00000555642.1_lincRNA	NR_033909.1																						TTTCTTCTTGCAACTTTTGCTA	0.406													16	17	---	---	---	---					
SYT16	83851	broad.mit.edu	37	14	62567160	62567160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:62567160delC	ENST00000430451.2	+	6	1870	c.1673delC	c.(1672-1674)tcfs	p.S558fs		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	558	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CAAGAGATGTCCCGTTGCAAG	0.463													32	27	---	---	---	---					
PALB2	79728	broad.mit.edu	37	16	23637683	23637683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:23637683delG	ENST00000261584.4	-	7	2774	c.2622delC	c.(2620-2622)gcfs	p.A874fs		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	874	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCCAAAACATGGCACTCACAT	0.443			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					22	169	---	---	---	---					
MYH1	4619	broad.mit.edu	37	17	10402323	10402323	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:10402323delC	ENST00000226207.5	-	29	4046	c.3952delG	c.(3952-3954)aafs	p.E1318fs	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1318						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTTTCAGTTCCTCAATCTGT	0.393													26	85	---	---	---	---					
ADAMTS10	81794	broad.mit.edu	37	19	8656874	8656875	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:8656874_8656875insG	ENST00000270328.4	-	13	1966_1967	c.1700_1701insC	c.(1699-1701)gtcfs	p.V567fs	ADAMTS10_ENST00000595838.1_Frame_Shift_Ins_p.S58fs|ADAMTS10_ENST00000597188.1_Frame_Shift_Ins_p.V567fs			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	567	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TAGAAGAGGACACGCCGCCGCC	0.723													13	14	---	---	---	---					
ZNF100	163227	broad.mit.edu	37	19	21909726	21909726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:21909726delC	ENST00000358296.6	-	5	1586	c.1388delG	c.(1387-1389)gcfs	p.G463fs	ZNF100_ENST00000305570.6_Frame_Shift_Del_p.G399fs	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGGCTTTGCCACATTCGTC	0.403													20	18	---	---	---	---					
CD22	933	broad.mit.edu	37	19	35832490	35832499	+	Frame_Shift_Del	DEL	CTGGACACTT	CTGGACACTT	-	rs141451390		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:35832490_35832499delCTGGACACTT	ENST00000085219.5	+	8	1818_1827	c.1752_1761delCTGGACACTT	c.(1750-1761)gcfs	p.AWTL584fs	CD22_ENST00000544992.2_Frame_Shift_Del_p.AWTL584fs|CD22_ENST00000270311.6_Frame_Shift_Del_p.AWTL464fs|CD22_ENST00000594250.1_Frame_Shift_Del_p.AWTL407fs|CD22_ENST00000536635.2_Frame_Shift_Del_p.AWTL496fs|CD22_ENST00000419549.2_Frame_Shift_Del_p.AWTL412fs|CD22_ENST00000341773.6_Frame_Shift_Del_p.AWTL407fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	584					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CGTCCAAGGCCTGGACACTTGAAGTGCTGT	0.590													8	124	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	RNA	INS	-	-	CTG	rs34452519		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563																											TGCCCACTCTTCTGGTCTCATG	0.540													2	4	---	---	---	---					
OSM	5008	broad.mit.edu	37	22	30660280	30660281	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:30660280_30660281insT	ENST00000215781.2	-	3	390_391	c.350_351insA	c.(349-351)cccfs	p.P117fs	OSM_ENST00000403389.1_Frame_Shift_Ins_p.P96fs|OSM_ENST00000403463.1_3'UTR	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	117					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GGGCCTTGGGGAGGCGCTGCTC	0.629													19	25	---	---	---	---					
MAGEB2	4113	broad.mit.edu	37	X	30237448	30237448	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:30237448delG	ENST00000378988.4	+	2	852	c.751delG	c.(751-753)atfs	p.D251fs		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	251	MAGE.						protein binding	p.D251N(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CATCACCAAAGATCTGGTGCA	0.507													19	38	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	5	---	---	---	---					
KDM5C	8242	broad.mit.edu	37	X	53245063	53245063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:53245063delC	ENST00000452825.3	-	5	1208	c.676delG	c.(676-678)agfs	p.E226fs	KDM5C_ENST00000404049.3_Frame_Shift_Del_p.E292fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.E293fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.E252fs|KDM5C_ENST00000375401.3_Frame_Shift_Del_p.E293fs	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	293					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCCTTGCTCTCCAGGAAGGTC	0.572			"""N, F, S"""		clear cell renal carcinoma								36	70	---	---	---	---					
