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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
ESPN	83715	broad.mit.edu	37	1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	rs139266211	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65		NA											False	1	True	1:6505817	0
TET1	80312	broad.mit.edu	37	10	70332929	70332940	+	In_Frame_Del	DEL	ATCTCTTAAGTT	ATCTCTTAAGTT	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	ATCTCTTAAGTT	ATCTCTTAAGTT	-	-	ATCTCTTAAGTT	ATCTCTTAAGTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:70332929_70332940delATCTCTTAAGTT	ENST00000373644.4	+	2	1043_1054	c.834_845delATCTCTTAAGTT	c.(832-846)gaatctcttaagtta>gaa	p.SLKL279del		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	279					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.S279Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACGAGTAGAATCTCTTAAGTTATCTGATTCT	0.434		NA											False	1	False	10:70332929	0
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638		NA											False	1	False	12:49445039	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
WFIKKN2	124857	broad.mit.edu	37	17	48917574	48917580	+	Frame_Shift_Del	DEL	CAGGCTG	CAGGCTG	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CAGGCTG	CAGGCTG	-	-	CAGGCTG	CAGGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:48917574_48917580delCAGGCTG	ENST00000311378.4	+	2	1453_1459	c.925_931delCAGGCTG	c.(925-933)caggctgcafs	p.QAA309fs	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.QAA216fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	309						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	p.A311S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CAGGGGTCATCAGGCTGCAGCCACCTC	0.657		NA											False	1	False	17:48917574	0
MUC16	94025	broad.mit.edu	37	19	9086442	9086457	+	Frame_Shift_Del	DEL	GCTGGACTCTGTCCTT	GCTGGACTCTGTCCTT	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GCTGGACTCTGTCCTT	GCTGGACTCTGTCCTT	-	-	GCTGGACTCTGTCCTT	GCTGGACTCTGTCCTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:9086442_9086457delGCTGGACTCTGTCCTT	ENST00000397910.4	-	1	5561_5576	c.5358_5373delAAGGACAGAGTCCAGC	c.(5356-5373)gcaaggacagagtccagcfs	p.ARTESS1786fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1786	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTAGCTGAGCTGGACTCTGTCCTTGCTGAAGACT	0.468		NA											False	1	False	19:9086442	0
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71		NA											False	1	False	19:14083667	0
RYR1	6261	broad.mit.edu	37	19	38937409	38937415	+	Splice_Site	DEL	GTAGGGC	GTAGGGC	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GTAGGGC	GTAGGGC	-	-	GTAGGGC	GTAGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:38937409_38937415delGTAGGGC	ENST00000355481.4	+	9	931		c.e9+1		RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	NA					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			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)	TGAGAATCAGGTAGGGCGGGGAAGATG	0.575		NA											False	1	True	19:38937409	0
NONO	4841	broad.mit.edu	37	X	70514254	70514255	+	Frame_Shift_Ins	INS	-	-	AGATC			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:70514254_70514255insAGATC	ENST00000276079.8	+	5	731_732	c.526_527insAGATC	c.(526-528)aggfs	p.R176fs	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Frame_Shift_Ins_p.R87fs|NONO_ENST00000373841.1_Frame_Shift_Ins_p.R176fs|NONO_ENST00000373856.3_Frame_Shift_Ins_p.R176fs	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	176	DBHS.|RRM 2.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCAGGTAGAGAGGGCTGTAGTC	0.51		NA	T	TFE3	papillary renal cancer								False	0	True	X:70514254	0
NONO	4841	broad.mit.edu	37	X	70514256	70514257	+	Frame_Shift_Ins	INS	-	-	AAGA			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:70514256_70514257insAAGA	ENST00000276079.8	+	5	733_734	c.528_529insAAGA	c.(529-531)gctfs	p.A177fs	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Frame_Shift_Ins_p.A88fs|NONO_ENST00000373841.1_Frame_Shift_Ins_p.A177fs|NONO_ENST00000373856.3_Frame_Shift_Ins_p.A177fs	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	177	DBHS.|RRM 2.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGGTAGAGAGGGCTGTAGTCAT	0.51		NA	T	TFE3	papillary renal cancer								False	0	True	X:70514256	0
CDKAL1	54901	broad.mit.edu	37	6	21198312	21198342	+	Splice_Site	DEL	GCACACAATCAATTCTATGAGCAGGTAAGAG	GCACACAATCAATTCTATGAGCAGGTAAGAG	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GCACACAATCAATTCTATGAGCAGGTAAGAG	GCACACAATCAATTCTATGAGCAGGTAAGAG	-	-	GCACACAATCAATTCTATGAGCAGGTAAGAG	GCACACAATCAATTCTATGAGCAGGTAAGAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:21198312_21198342delGCACACAATCAATTCTATGAGCAGGTAAGAG	ENST00000378610.1	+	12	1370_1393	c.1360_1383delGCACACAATCAATTCTATGAGCAGGTAAGAG	c.(1360-1383)gcacacaatcaattctatgagcagdel	p.AHNQFYEQ454fs	CDKAL1_ENST00000378624.4_Splice_Site_p.AHNQFYEQ363fs|CDKAL1_ENST00000274695.4_Splice_Site_p.AHNQFYEQ454fs			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	454	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GTTTTATGTTGCACACAATCAATTCTATGAGCAGGTAAGAGGCACTTCAGT	0.385		NA											False	1	False	6:21198312	0
MDGA1	266727	broad.mit.edu	37	6	37622148	37622148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:37622148delA	ENST00000434837.2	-	6	2062	c.884delT	c.(883-885)atcfs	p.I295fs	MDGA1_ENST00000297153.7_Frame_Shift_Del_p.I295fs|MDGA1_ENST00000505425.1_Frame_Shift_Del_p.I295fs	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	295	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACTGAAGGGATGCTGAGGGT	0.637		NA											False	1	True	6:37622148	0
MDGA1	266727	broad.mit.edu	37	6	37622150	37622193	+	Frame_Shift_Del	DEL	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	-	rs35798272		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	-	-	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:37622150_37622193delGCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	ENST00000434837.2	-	6	2017_2060	c.839_882delGCCCACTGCCCCTGGGTGCTCTGGCCCAGGGTGGCACCCTCAGC	c.(838-882)ggcccactgcccctgggtgctctggcccagggtggcaccctcagcfs	p.GPLPLGALAQGGTLS280fs	MDGA1_ENST00000297153.7_Frame_Shift_Del_p.GPLPLGALAQGGTLS280fs|MDGA1_ENST00000505425.1_Frame_Shift_Del_p.GPLPLGALAQGGTLS280fs	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	280	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.Q289H(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGAAGGGATGCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGCCAGGCCCATG	0.623		NA											False	1	False	6:37622150	0
GHSR	2693	broad.mit.edu	37	3	172165640	172165640	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:172165640G>A	ENST00000241256.2	-	1	606	c.564C>T	c.(562-564)aaC>aaT	p.N188N	GHSR_ENST00000427970.1_Silent_p.N188N	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	188					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGTCGGTGCCGTTCTCGTGCT	0.637		NA											False	0	False	3:172165640	0
CDH23	64072	broad.mit.edu	37	10	73545428	73545428	+	Missense_Mutation	SNP	G	G	A	rs115113440	by1000genomes	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:73545428G>A	ENST00000224721.6	+	43	5773	c.5768G>A	c.(5767-5769)cGg>cAg	p.R1923Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1918	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACCGCGAGCGGATCCCAGAG	0.597		NA											False	0	False	10:73545428	0
TTN	7273	broad.mit.edu	37	2	179638079	179638079	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179638079C>T	ENST00000589042.1	-	33	7836	c.7612G>A	c.(7612-7614)Ggt>Agt	p.G2538S	TTN_ENST00000460472.2_Missense_Mutation_p.G2492S|TTN_ENST00000359218.5_Missense_Mutation_p.G2492S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2492S|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2538S|TTN_ENST00000360870.5_Missense_Mutation_p.G2538S|TTN_ENST00000342992.6_Missense_Mutation_p.G2538S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2272							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACGAAGACCTCTGATAATT	0.353		NA											False	0	False	2:179638079	0
KCNK15	60598	broad.mit.edu	37	20	43374752	43374752	+	Silent	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:43374752C>A	ENST00000372861.3	+	1	332	c.201C>A	c.(199-201)ctC>ctA	p.L67L		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	67						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GCCTGGCGCTCCAGGCTGAGC	0.692		NA											False	0	False	20:43374752	0
PKD1	5310	broad.mit.edu	37	16	2165466	2165466	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:2165466C>T	ENST00000262304.4	-	10	2218	c.2010G>A	c.(2008-2010)acG>acA	p.T670T	PKD1_ENST00000423118.1_Silent_p.T670T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	670	LDL-receptor class A; atypical.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGGCCCTGACGTGCAGCCAT	0.711		NA											False	0	False	16:2165466	0
AGAP5	729092	broad.mit.edu	37	10	75451817	75451817	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:75451817C>A	ENST00000443782.2	-	3	436	c.311G>T	c.(310-312)aGc>aTc	p.S104I	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.S127I			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TGTACAGTTGCTTCTTCTTAT	0.274		NA											False	0	True	10:75451817	0
OR2B11	127623	broad.mit.edu	37	1	247614391	247614391	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:247614391A>G	ENST00000318749.6	-	1	917	c.894T>C	c.(892-894)aaT>aaC	p.N298N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TCATATCTTTATTTCTCAGGG	0.473		NA											False	0	True	1:247614391	0
SCRN2	90507	broad.mit.edu	37	17	45916852	45916852	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45916852G>A	ENST00000407215.3	-	4	595	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	SCRN2_ENST00000290216.9_Silent_p.L172L|SCRN2_ENST00000584123.1_Silent_p.L180L			Q96FV2	SCRN2_HUMAN	secernin 2	172					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCTGTCTCCAGCACCCACGCC	0.622		NA											False	0	False	17:45916852	0
MYH10	4628	broad.mit.edu	37	17	8398511	8398511	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:8398511C>A	ENST00000360416.3	-	31	4138	c.4000G>T	c.(4000-4002)Ggt>Tgt	p.G1334C	MYH10_ENST00000396239.1_Missense_Mutation_p.G1324C|MYH10_ENST00000379980.4_Missense_Mutation_p.G1319C|MYH10_ENST00000269243.4_Missense_Mutation_p.G1303C	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1303					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATTTAATACCCTTCTTCTCT	0.408		NA											False	0	True	17:8398511	0
PDE8B	8622	broad.mit.edu	37	5	76646926	76646926	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:76646926G>A	ENST00000264917.5	+	9	1099	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	PDE8B_ENST00000342343.4_Missense_Mutation_p.G332R|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Missense_Mutation_p.G352R|PDE8B_ENST00000340978.3_Missense_Mutation_p.G305R	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	352					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.G352R(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ACGGAAATCCGGGGACAGCAT	0.502		NA											False	0	True	5:76646926	0
UTP18	51096	broad.mit.edu	37	17	49353296	49353296	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49353296C>A	ENST00000225298.7	+	6	838	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	261					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GCAGTTCCATCCCGGTGCACA	0.383		NA											False	0	True	17:49353296	0
THAP4	51078	broad.mit.edu	37	2	242572368	242572368	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:242572368C>T	ENST00000407315.1	-	2	1635	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	402							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGATAGGGGACGCTCACTCTC	0.627		NA											False	0	False	2:242572368	0
WDR3	10885	broad.mit.edu	37	1	118477263	118477263	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:118477263G>C	ENST00000349139.4	+	3	386	c.339G>C	c.(337-339)ttG>ttC	p.L113F	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	113						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TCACTACCTTGAAGTATGATC	0.478		NA											False	0	False	1:118477263	0
PCDHGC5	0	broad.mit.edu	37	5	140869580	140869580	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140869580G>A	ENST00000252087.1	+	1	773	c.773G>A	c.(772-774)gGt>gAt	p.G258D	PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		258	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCCATTGGTACTCTGCTG	0.517		NA											False	0	False	5:140869580	0
PKD1L1	168507	broad.mit.edu	37	7	47842826	47842826	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:47842826G>T	ENST00000289672.2	-	53	7994	c.7944C>A	c.(7942-7944)ccC>ccA	p.P2648P	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2648					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAAAGATGCTGGGGAGTGAGT	0.463		NA											False	0	True	7:47842826	0
CDYL2	124359	broad.mit.edu	37	16	80718735	80718735	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:80718735G>A	ENST00000299564.8	-	2	471	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.R106W|CDYL2_ENST00000563890.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562812.1_Missense_Mutation_p.R106W	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	106						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ATTCGCTTCCGTTTATGGGAG	0.557		NA											False	0	True	16:80718735	0
GRAMD1C	54762	broad.mit.edu	37	3	113595066	113595066	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:113595066C>T	ENST00000358160.4	+	5	910	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	140						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AACTGCTCGACTCATCCCAAA	0.303		NA											False	0	False	3:113595066	0
RP11-407N17.3	0	broad.mit.edu	37	14	39818172	39818172	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:39818172C>G	ENST00000553728.1	+	27	4057	c.3844C>G	c.(3844-3846)Cca>Gca	p.P1282A	CTAGE5_ENST00000341749.3_Missense_Mutation_p.P735A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P747A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P752A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P747A|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P667A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P704A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P672A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P718A						NA											NA						ACCACCTGCTCCATTTGCAAG	0.408		NA											False	0	False	14:39818172	0
KIAA0100	9703	broad.mit.edu	37	17	26971150	26971150	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:26971150G>C	ENST00000528896.2	-	2	198	c.124C>G	c.(124-126)Cta>Gta	p.L42V	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	42						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCAATCTTTAGCTCCGCCTGC	0.473		NA									OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:26971150	0
ETV5	2119	broad.mit.edu	37	3	185783686	185783686	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:185783686G>C	ENST00000306376.5	-	8	1072	c.826C>G	c.(826-828)Ccg>Gcg	p.P276A	ETV5_ENST00000537818.1_Missense_Mutation_p.P318A|ETV5_ENST00000434744.1_Missense_Mutation_p.P276A	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	276					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGCATGCCCGGGACCCCATGT	0.552		NA	T	"""TMPRSS2, SCL45A3"""	Prostate								False	0	True	3:185783686	0
RREB1	6239	broad.mit.edu	37	6	7231195	7231195	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:7231195G>A	ENST00000379938.2	+	10	3400	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	RREB1_ENST00000379933.3_Missense_Mutation_p.E955K|RREB1_ENST00000349384.6_Missense_Mutation_p.E955K|RREB1_ENST00000334984.6_Missense_Mutation_p.E955K	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	955					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACTCCCAGCGAAGCCAAGAA	0.617		NA											False	0	False	6:7231195	0
NCOA2	10499	broad.mit.edu	37	8	71082538	71082538	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:71082538A>G	ENST00000452400.2	-	6	621	c.440T>C	c.(439-441)cTa>cCa	p.L147P		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	147	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTTATACCTTAGATACTGTGT	0.418		NA	T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								False	0	False	8:71082538	0
PUM1	9698	broad.mit.edu	37	1	31409636	31409636	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:31409636C>T	ENST00000373747.3	-	21	3391	c.3292G>A	c.(3292-3294)Gct>Act	p.A1098T	PUM1_ENST00000257075.5_Missense_Mutation_p.A1095T|PUM1_ENST00000426105.2_Missense_Mutation_p.A1097T|PUM1_ENST00000424085.2_Missense_Mutation_p.A853T|PUM1_ENST00000423018.2_Missense_Mutation_p.A953T|PUM1_ENST00000373741.4_Missense_Mutation_p.A1133T|PUM1_ENST00000440538.2_Missense_Mutation_p.A1071T|PUM1_ENST00000373742.2_Missense_Mutation_p.A1036T	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1095	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATGAGCACAGCGCGCTCCGTA	0.507		NA											False	0	True	1:31409636	0
COL4A4	1286	broad.mit.edu	37	2	227875104	227875104	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:227875104C>A	ENST00000396625.3	-	46	4654	c.4447G>T	c.(4447-4449)Ggc>Tgc	p.G1483C	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1480C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1483	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGGCATGCCCAGGGGGCAG	0.577		NA											False	0	True	2:227875104	0
KCNJ12	3768	broad.mit.edu	37	17	21318787	21318787	+	Missense_Mutation	SNP	C	C	T	rs144531040	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:21318787C>T	ENST00000583088.1	+	3	1028	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R45C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	NA										NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GTGCCGCAACCGCTTCGTCAA	0.602		NA								Prostate(3;0.18)			False	0	False	17:21318787	0
LAMB4	22798	broad.mit.edu	37	7	107735753	107735753	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:107735753G>A	ENST00000388781.3	-	12	1473	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	LAMB4_ENST00000388780.3_Missense_Mutation_p.P464S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P464S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P464S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	464	Laminin EGF-like 4.				cell adhesion	basement membrane				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						GTCAAGAATGGCAGACTCCCA	0.453		NA											False	0	False	7:107735753	0
NCAPG	64151	broad.mit.edu	37	4	17839269	17839269	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:17839269G>C	ENST00000251496.2	+	16	2487	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	771					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GGAATGCTTTGAAGAAGCTTT	0.358		NA											False	0	True	4:17839269	0
CFH	3075	broad.mit.edu	37	1	196695962	196695962	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:196695962T>C	ENST00000367429.4	+	14	2368	c.2128T>C	c.(2128-2130)Tac>Cac	p.Y710H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	710	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCCTCCTTATTACTATGGAGA	0.393		NA											False	0	False	1:196695962	0
MAGED2	10916	broad.mit.edu	37	X	54841940	54841940	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:54841940C>A	ENST00000375068.1	+	12	1879	c.1646C>A	c.(1645-1647)aCt>aAt	p.T549N	MAGED2_ENST00000375058.1_Missense_Mutation_p.T549N|MAGED2_ENST00000218439.4_Missense_Mutation_p.T549N|MAGED2_ENST00000347546.3_Missense_Mutation_p.T493N|MAGED2_ENST00000343474.6_Missense_Mutation_p.T531N|MAGED2_ENST00000375053.2_Missense_Mutation_p.T549N|MAGED2_ENST00000375062.4_Missense_Mutation_p.T464N|MAGED2_ENST00000396224.1_Missense_Mutation_p.T549N|MAGED2_ENST00000375060.1_Missense_Mutation_p.T464N			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	549										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						agtgccagcactggtgccagt	0.597		NA											False	0	False	X:54841940	0
PRKD3	23683	broad.mit.edu	37	2	37520399	37520399	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:37520399A>C	ENST00000379066.1	-	3	1066	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	PRKD3_ENST00000234179.2_Missense_Mutation_p.F102V			O94806	KPCD3_HUMAN	protein kinase D3	102					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATGCCAAAGAATCCACACTCT	0.333		NA											False	0	False	2:37520399	0
TECTA	7007	broad.mit.edu	37	11	121028674	121028674	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:121028674G>A	ENST00000392793.1	+	14	4701	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1477H			O75443	TECTA_HUMAN	tectorin alpha	1477					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AACGGGGTGCGCGGCTGCTTC	0.687		NA											False	0	False	11:121028674	0
TTN	7273	broad.mit.edu	37	2	179456474	179456474	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179456474C>G	ENST00000589042.1	-	303	60296	c.60072G>C	c.(60070-60072)tgG>tgC	p.W20024C	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W10959C|TTN_ENST00000359218.5_Missense_Mutation_p.W11084C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W11151C|TTN_ENST00000591111.1_Missense_Mutation_p.W18383C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W17456C|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18383	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAATTTAATCCAGTCCTGGG	0.423		NA											False	0	False	2:179456474	0
DAGLA	747	broad.mit.edu	37	11	61508664	61508664	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:61508664G>A	ENST00000257215.5	+	19	2130	c.2014G>A	c.(2014-2016)Gct>Act	p.A672T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	672					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGGGAAGACCGCTCTGCTCTC	0.637		NA											False	0	True	11:61508664	0
RNF213	57674	broad.mit.edu	37	17	78324169	78324169	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:78324169G>A	ENST00000582970.1	+	31	10300	c.10157G>A	c.(10156-10158)cGt>cAt	p.R3386H	RNF213_ENST00000336301.6_Missense_Mutation_p.R1459H|RNF213_ENST00000508628.2_Missense_Mutation_p.R3435H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGGAATCCGTAGCGCCCAG	0.353		NA											False	0	False	17:78324169	0
GBAP1	0	broad.mit.edu	37	1	155188655	155188655	+	RNA	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:155188655G>C	ENST00000486869.1	-	0	79					NR_002188.2					NA											NA						GGAAGGACTTGAAAACTCCAT	0.463		NA											False	0	True	1:155188655	0
TPP2	7174	broad.mit.edu	37	13	103301346	103301346	+	Silent	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr13:103301346T>A	ENST00000376052.3	+	22	2734	c.2718T>A	c.(2716-2718)ctT>ctA	p.L906L	TPP2_ENST00000376065.4_Silent_p.L906L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	906					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAAAGACCTTCCATTTATTG	0.338		NA											False	0	False	13:103301346	0
MEGF8	1954	broad.mit.edu	37	19	42848986	42848986	+	Splice_Site	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:42848986G>C	ENST00000334370.4	+	12	2732		c.e12+1		MEGF8_ENST00000251268.6_Splice_Site	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	NA						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCTGACAAGGTGGGTAGGAG	0.542		NA											False	0	False	19:42848986	0
EPHB4	2050	broad.mit.edu	37	7	100421350	100421350	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:100421350C>T	ENST00000358173.3	-	3	795	c.327G>A	c.(325-327)gaG>gaA	p.E109E	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.E109E	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	109					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGTGAAGGTCTCCTTGCAGG	0.667		NA											False	0	False	7:100421350	0
C16orf70	80262	broad.mit.edu	37	16	67166803	67166803	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67166803C>T	ENST00000219139.3	+	6	627	c.439C>T	c.(439-441)Cca>Tca	p.P147S	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.P147S	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	147										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GACTGAGGCTCCAAAGTATGA	0.512		NA											False	0	False	16:67166803	0
ZNF619	285267	broad.mit.edu	37	3	40529155	40529155	+	Missense_Mutation	SNP	C	C	T	rs139131960	by1000genomes	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:40529155C>T	ENST00000447116.2	+	6	1581	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.S425L|ZNF619_ENST00000456778.1_Missense_Mutation_p.S341L|ZNF619_ENST00000432264.2_Missense_Mutation_p.S385L|ZNF619_ENST00000429348.2_Missense_Mutation_p.S385L|ZNF619_ENST00000522736.1_Missense_Mutation_p.S376L|ZNF619_ENST00000314686.5_Missense_Mutation_p.S369L	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	425					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACCGCAGTTCGGTATTTCTT	0.443		NA											False	0	False	3:40529155	0
DHX38	9785	broad.mit.edu	37	16	72138480	72138480	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:72138480C>T	ENST00000268482.3	+	15	2615	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	702	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCCATCTTCCACATCCCTG	0.537		NA											False	0	False	16:72138480	0
PCDHB2	0	broad.mit.edu	37	5	140475321	140475321	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140475321C>T	ENST00000194155.4	+	1	1095	c.947C>T	c.(946-948)aCa>aTa	p.T316I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		316	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCATCCAGACATACACAGTA	0.423		NA											False	0	False	5:140475321	0
PCYT2	5833	broad.mit.edu	37	17	79866869	79866869	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:79866869C>T	ENST00000538936.2	-	3	331	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PCYT2_ENST00000331285.3_5'UTR|PCYT2_ENST00000570388.1_5'UTR|PCYT2_ENST00000570391.1_Missense_Mutation_p.E43K|PCYT2_ENST00000538721.2_Missense_Mutation_p.E75K|PCYT2_ENST00000571105.1_Missense_Mutation_p.E75K	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	75	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TTGTATCTCTCCTCCTGAGTG	0.592		NA											False	0	True	17:79866869	0
MKI67	4288	broad.mit.edu	37	10	129903384	129903384	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:129903384C>G	ENST00000368654.3	-	13	7095	c.6720G>C	c.(6718-6720)aaG>aaC	p.K2240N	MKI67_ENST00000368653.3_Missense_Mutation_p.K1880N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2240	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGAGACTTCTCTTGGACTGTG	0.498		NA											False	0	False	10:129903384	0
AIMP1	9255	broad.mit.edu	37	4	107252827	107252827	+	Splice_Site	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:107252827A>G	ENST00000394701.4	+	5	504		c.e5-1		AIMP1_ENST00000358008.3_Splice_Site|AIMP1_ENST00000442366.1_Splice_Site	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	NA					angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						AATACTTTTTAGGAGAGAAGA	0.358		NA											False	0	True	4:107252827	0
FBN3	84467	broad.mit.edu	37	19	8190867	8190867	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:8190867A>G	ENST00000600128.1	-	22	3054	c.2640T>C	c.(2638-2640)tgT>tgC	p.C880C	FBN3_ENST00000270509.2_Silent_p.C880C|FBN3_ENST00000601739.1_Silent_p.C880C			Q75N90	FBN3_HUMAN	fibrillin 3	880	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCGTTGGGACAGACTCCCG	0.637		NA											False	0	True	19:8190867	0
DLGAP1	9229	broad.mit.edu	37	18	3879577	3879577	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr18:3879577G>A	ENST00000315677.3	-	4	1087	c.492C>T	c.(490-492)aaC>aaT	p.N164N	DLGAP1_ENST00000515196.2_Silent_p.N164N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Silent_p.N164N|DLGAP1_ENST00000581527.1_Silent_p.N164N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	164					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTTGCCCCCGTTGACGCTGC	0.711		NA											False	0	True	18:3879577	0
CHPF	79586	broad.mit.edu	37	2	220406647	220406647	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:220406647G>T	ENST00000243776.6	-	2	827	c.579C>A	c.(577-579)gaC>gaA	p.D193E	CHPF_ENST00000535926.1_Missense_Mutation_p.D31E|CHPF_ENST00000373891.2_Missense_Mutation_p.D193E	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	193						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGAAGAACCAGTCAAAGTCGT	0.672		NA									OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:220406647	0
FAT1	2195	broad.mit.edu	37	4	187524664	187524664	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:187524664A>G	ENST00000441802.2	-	19	11225	c.11016T>C	c.(11014-11016)ggT>ggC	p.G3672G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3672					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCTCCTCACACCCAGGATGT	0.502		NA								HNSCC(5;0.00058)			False	0	True	4:187524664	0
RELN	5649	broad.mit.edu	37	7	103234836	103234836	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:103234836C>T	ENST00000428762.1	-	26	3802	c.3643G>A	c.(3643-3645)Gat>Aat	p.D1215N	RELN_ENST00000424685.2_Missense_Mutation_p.D1215N|RELN_ENST00000343529.5_Missense_Mutation_p.D1215N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1215					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			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)		ATGATGTCATCGACTGCCCAC	0.517		NA											False	0	False	7:103234836	0
PPP2R1A	5518	broad.mit.edu	37	19	52709296	52709296	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:52709296G>C	ENST00000322088.6	+	3	308	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Intron	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	84	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GGGAGGCCCAGAGTACGTGCA	0.607		NA	Mis		clear cell ovarian carcinoma								False	0	False	19:52709296	0
ABCC11	85320	broad.mit.edu	37	16	48248799	48248799	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:48248799G>A	ENST00000394747.1	-	8	1590	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	ABCC11_ENST00000356608.2_Missense_Mutation_p.A414V|ABCC11_ENST00000537808.1_Missense_Mutation_p.A414V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A414V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A414V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	414	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			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)				TACCATTGACGCTGTGAGTTT	0.493		NA											False	0	False	16:48248799	0
ZC3H4	23211	broad.mit.edu	37	19	47585472	47585472	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:47585472G>A	ENST00000253048.5	-	10	1336	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	433							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGCTCTGGCGCAAAATCCAG	0.463		NA											False	0	False	19:47585472	0
ITGA4	3676	broad.mit.edu	37	2	182347132	182347132	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:182347132G>C	ENST00000397033.2	+	8	1316	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	296					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TATCTTACATGAAATGAAAGG	0.308		NA											False	0	True	2:182347132	0
OR4B1	119765	broad.mit.edu	37	11	48238701	48238701	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:48238701G>A	ENST00000309562.2	+	1	358	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V114L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTTTTGATTGTGGTGATGGC	0.443		NA											False	0	False	11:48238701	0
ZNF778	197320	broad.mit.edu	37	16	89294771	89294771	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:89294771G>A	ENST00000433976.2	+	6	2323	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.G622E	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CATAAACATGGAAGAATTCAC	0.403		NA											False	0	False	16:89294771	0
CRYBA2	1412	broad.mit.edu	37	2	219856841	219856841	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219856841G>A	ENST00000295728.2	-	2	522	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	CRYBA2_ENST00000392096.2_Missense_Mutation_p.R96W	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	96	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCACTGGCCGGAAGGACAGC	0.622		NA											False	0	False	2:219856841	0
FAM189A2	9413	broad.mit.edu	37	9	71951186	71951186	+	Splice_Site	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:71951186G>T	ENST00000257515.8	+	2	432		c.e2+1		FAM189A2_ENST00000455972.1_Splice_Site	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	NA						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GATACTCCTGGTATGTACTGA	0.333		NA											False	0	False	9:71951186	0
C1RL	51279	broad.mit.edu	37	12	7254607	7254607	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7254607C>T	ENST00000266542.4	-	3	469	c.377G>A	c.(376-378)aGg>aAg	p.R126K	C1RL_ENST00000545337.1_Missense_Mutation_p.R126K|C1RL_ENST00000545280.1_Missense_Mutation_p.G50R|C1RL_ENST00000544702.1_Missense_Mutation_p.R126K	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	126	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACAAACTCCCTCTGACCAGG	0.607		NA											False	0	True	12:7254607	0
GPR27	2850	broad.mit.edu	37	3	71804286	71804286	+	Silent	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:71804286C>A	ENST00000304411.2	+	1	1086	c.1086C>A	c.(1084-1086)acC>acA	p.T362T		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	362						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CCCGGACCACCCAGGCGACCC	0.647		NA											False	0	True	3:71804286	0
FGF6	2251	broad.mit.edu	37	12	4554454	4554454	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:4554454C>T	ENST00000228837.2	-	1	326	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	95					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGGTGAAAGCCGATGCCCACG	0.652		NA											False	0	False	12:4554454	0
ELK1	2002	broad.mit.edu	37	X	47498346	47498346	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47498346G>A	ENST00000247161.3	-	3	701	c.602C>T	c.(601-603)cCa>cTa	p.P201L	ELK1_ENST00000376983.3_Missense_Mutation_p.P201L|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.P147L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	201					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CAAGGGGCTTGGACTGGTGCT	0.632		NA											False	0	False	X:47498346	0
MBTD1	0	broad.mit.edu	37	17	49272667	49272667	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49272667C>T	ENST00000586178.1	-	13	1623	c.1280G>A	c.(1279-1281)gGa>gAa	p.G427E	MBTD1_ENST00000415868.1_Missense_Mutation_p.G427E|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	427					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CCAGTCAGATCCGTCTGCTGC	0.428		NA											False	0	False	17:49272667	0
IBSP	3381	broad.mit.edu	37	4	88727301	88727301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:88727301G>T	ENST00000226284.5	+	5	278	c.211G>T	c.(211-213)Gga>Tga	p.G71*		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	71	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CGAAGAAAATGGAGATGACAG	0.348		NA											False	0	False	4:88727301	0
UNC80	285175	broad.mit.edu	37	2	210650909	210650909	+	Silent	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:210650909T>C	ENST00000439458.1	+	5	800	c.720T>C	c.(718-720)atT>atC	p.I240I	UNC80_ENST00000272845.5_Silent_p.I240I|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	240						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGAACATCATTACAGGTTTGT	0.483		NA											False	0	False	2:210650909	0
NOS1	4842	broad.mit.edu	37	12	117693813	117693813	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:117693813C>T	ENST00000338101.4	-	16	2565	c.2561G>A	c.(2560-2562)cGt>cAt	p.R854H	NOS1_ENST00000344089.3_Intron|NOS1_ENST00000317775.6_Intron			P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	844	Flavodoxin-like.				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			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)	AGGCCCTTTACGGGGAAAGAA	0.602		NA											False	0	True	12:117693813	0
ZNF157	7712	broad.mit.edu	37	X	47272834	47272834	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47272834A>T	ENST00000377073.3	+	4	1448	c.1362A>T	c.(1360-1362)aaA>aaT	p.K454N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	454					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCTATGTGAAAGTACGCCTCA	0.438		NA											False	0	True	X:47272834	0
EML1	2009	broad.mit.edu	37	14	100374050	100374050	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:100374050G>C	ENST00000262233.6	+	10	1223	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	EML1_ENST00000334192.4_Missense_Mutation_p.E381Q|EML1_ENST00000327921.9_Missense_Mutation_p.E350Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	362						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCAGAAAGAAGAAAAACTAGC	0.468		NA											False	0	True	14:100374050	0
ATAD2	29028	broad.mit.edu	37	8	124348628	124348628	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:124348628C>G	ENST00000287394.5	-	22	3303	c.3196G>C	c.(3196-3198)Gat>Cat	p.D1066H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D384H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1066	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.D1066Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGATCTCTATCTGGATTGTAT	0.373		NA											False	0	False	8:124348628	0
CAMSAP3	57662	broad.mit.edu	37	19	7673099	7673099	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:7673099G>A	ENST00000446248.2	+	7	891	c.790G>A	c.(790-792)Gcg>Acg	p.A264T	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.A237T	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	237	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAGTGGGGCCGCGCTGGCCGC	0.642		NA											False	0	False	19:7673099	0
MATN2	4147	broad.mit.edu	37	8	99019798	99019798	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:99019798C>T	ENST00000254898.5	+	10	1773	c.1542C>T	c.(1540-1542)caC>caT	p.H514H	MATN2_ENST00000520016.1_Silent_p.H514H|MATN2_ENST00000524308.1_Silent_p.H473H|MATN2_ENST00000522025.2_Silent_p.H230H|MATN2_ENST00000521689.1_Silent_p.H514H	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	514	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTGAGGGACACGTGCTCCGCA	0.567		NA											False	0	False	8:99019798	0
ALB	213	broad.mit.edu	37	4	74283893	74283893	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:74283893T>C	ENST00000295897.4	+	12	1606	c.1517T>C	c.(1516-1518)gTg>gCg	p.V506A	ALB_ENST00000503124.1_Missense_Mutation_p.V356A|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.V506A|ALB_ENST00000415165.2_Missense_Mutation_p.V314A|ALB_ENST00000401494.3_Missense_Mutation_p.V391A	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	506	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GAATCCTTGGTGAACAGGCGA	0.448		NA											False	0	False	4:74283893	0
CDH23	64072	broad.mit.edu	37	10	73377087	73377087	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:73377087C>T	ENST00000224721.6	+	10	1091	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	CDH23_ENST00000299366.7_Silent_p.I402I|CDH23_ENST00000461841.3_Silent_p.I402I|CDH23_ENST00000398809.4_Silent_p.I357I|CDH23_ENST00000398842.3_Silent_p.I357I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	357	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCGTGGCCATCACTGAGCTGG	0.557		NA											False	0	False	10:73377087	0
VTI1B	10490	broad.mit.edu	37	14	68118129	68118129	+	Silent	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:68118129A>C	ENST00000554659.1	-	6	1013	c.672T>G	c.(670-672)gtT>gtG	p.V224V	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	224					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		ATTTGTAGTAAACCAGGCCTC	0.453		NA											False	0	True	14:68118129	0
THRAP3	9967	broad.mit.edu	37	1	36752631	36752631	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752631C>T	ENST00000354618.5	+	4	1024	c.800C>T	c.(799-801)cCt>cTt	p.P267L	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	267	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCACCCCGTCCTAGCCCCGTG	0.617		NA	T	USP6	aneurysmal bone cysts								False	0	False	1:36752631	0
POLE	5426	broad.mit.edu	37	12	133240667	133240667	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:133240667C>G	ENST00000320574.5	-	23	2672	c.2629G>C	c.(2629-2631)Gtc>Ctc	p.V877L	POLE_ENST00000535270.1_Missense_Mutation_p.V850L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	877					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTCTTGAAGACAAAATTTTCT	0.517		NA						DNA polymerases (catalytic subunits)					False	0	True	12:133240667	0
SMEK2	57223	broad.mit.edu	37	2	55795477	55795477	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:55795477C>T	ENST00000272313.5	-	11	1860	c.1533G>A	c.(1531-1533)cgG>cgA	p.R511R	SMEK2_ENST00000345102.5_Silent_p.R596R|SMEK2_ENST00000407823.3_Silent_p.R564R	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	574						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCCAATTATCCGCCTCATAA	0.313		NA											False	0	False	2:55795477	0
ZFYVE20	64145	broad.mit.edu	37	3	15116060	15116060	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:15116060C>T	ENST00000253699.3	-	14	2197	c.1584G>A	c.(1582-1584)cgG>cgA	p.R528R	ZFYVE20_ENST00000476527.2_Silent_p.R528R	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	528	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTTCCAACTCCCGTTCACGCA	0.597		NA											False	0	True	3:15116060	0
GPR50	9248	broad.mit.edu	37	X	150345311	150345311	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:150345311G>A	ENST00000218316.3	+	1	187	c.118G>A	c.(118-120)Gtt>Att	p.V40I	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	40					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TATCACCATCGTTGTAGACCT	0.512		NA											False	0	False	X:150345311	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0
CDC27	996	broad.mit.edu	37	17	45206848	45206848	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45206848T>A	ENST00000066544.3	-	16	2164	c.2071A>T	c.(2071-2073)Acc>Tcc	p.T691S	CDC27_ENST00000527547.1_Missense_Mutation_p.T690S|CDC27_ENST00000531206.1_Missense_Mutation_p.T697S|CDC27_ENST00000446365.2_Missense_Mutation_p.T630S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	691					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTGTTTAGGGTATCCAAAGCC	0.338		NA											False	0	True	17:45206848	0
BRWD1	54014	broad.mit.edu	37	21	40571514	40571514	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:40571514T>A	ENST00000342449.3	-	40	4906	c.4828A>T	c.(4828-4830)Aat>Tat	p.N1610Y	BRWD1_ENST00000380800.3_Missense_Mutation_p.N1610Y|BRWD1_ENST00000333229.2_Missense_Mutation_p.N1610Y	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCCAATGAATTGTTATCAGAA	0.373		NA									OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	21:40571514	0
TICRR	90381	broad.mit.edu	37	15	90150053	90150053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:90150053C>T	ENST00000268138.7	+	14	2824	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*	TICRR_ENST00000560985.1_Nonsense_Mutation_p.Q906*					TOPBP1-interacting checkpoint and replication regulator	NA											NA						AGATACAGTGCAAGGTATACT	0.368		NA											False	0	False	15:90150053	0
THBS1	7057	broad.mit.edu	37	15	39876541	39876541	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:39876541C>T	ENST00000260356.5	+	6	1109	c.944C>T	c.(943-945)cCt>cTt	p.P315L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	315					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTGAGGCGGCCTCCCCTATGC	0.483		NA											False	0	False	15:39876541	0
SIDT1	54847	broad.mit.edu	37	3	113320452	113320452	+	Missense_Mutation	SNP	G	G	C	rs138220562		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:113320452G>C	ENST00000264852.4	+	11	1789	c.1063G>C	c.(1063-1065)Gca>Cca	p.A355P	SIDT1_ENST00000393830.3_Missense_Mutation_p.A355P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	355						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AAATATGGTGGCATCTCATCC	0.413		NA											False	0	False	3:113320452	0
DHX36	170506	broad.mit.edu	37	3	154032888	154032888	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:154032888A>C	ENST00000496811.1	-	3	630	c.550T>G	c.(550-552)Tta>Gta	p.L184V	DHX36_ENST00000308361.6_Missense_Mutation_p.L184V|DHX36_ENST00000544526.1_Missense_Mutation_p.L184V|DHX36_ENST00000329463.5_Missense_Mutation_p.L184V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	184						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTTCCAATAATTTTTGGTCT	0.289		NA											False	0	True	3:154032888	0
SHROOM4	57477	broad.mit.edu	37	X	50350791	50350791	+	Silent	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:50350791T>C	ENST00000376020.2	-	6	3376	c.3351A>G	c.(3349-3351)gcA>gcG	p.A1117A	SHROOM4_ENST00000460112.3_Silent_p.A1001A|SHROOM4_ENST00000289292.7_Silent_p.A1117A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1117					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			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)					gctgctgGGCTGCACGAAAGA	0.577		NA											False	0	False	X:50350791	0
OBSCN	84033	broad.mit.edu	37	1	228562337	228562337	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:228562337A>G	ENST00000570156.2	+	108	25492	c.25418A>G	c.(25417-25419)aAg>aGg	p.K8473R	OBSCN_ENST00000366707.4_Missense_Mutation_p.K5150R|OBSCN_ENST00000422127.1_Missense_Mutation_p.K7516R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7516					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCACCCTCAAGAACTTCCAG	0.622		NA											False	0	False	1:228562337	0
SYNPO2L	79933	broad.mit.edu	37	10	75407582	75407582	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:75407582G>C	ENST00000394810.2	-	4	1977	c.1828C>G	c.(1828-1830)Cgc>Ggc	p.R610G	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386G	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	610	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGCTGCTCGCGAGCGCTGGGG	0.706		NA											False	0	False	10:75407582	0
BLCAP	10904	broad.mit.edu	37	20	36147320	36147320	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:36147320C>G	ENST00000414542.2	-	3	704	c.257G>C	c.(256-258)gGc>gCc	p.G86A	BLCAP_ENST00000397137.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397134.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397131.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397135.1_Missense_Mutation_p.G86A|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000373537.2_Missense_Mutation_p.G86A	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	86					apoptosis|cell cycle	integral to membrane				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CCGTTAGGTGCCCACAACGCC	0.552		NA											False	0	True	20:36147320	0
TRAF3IP2	10758	broad.mit.edu	37	6	111913040	111913040	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:111913040G>A	ENST00000368761.5	-	2	728	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.R84C|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.R93C|TRAF3IP2-AS1_ENST00000532353.1_RNA	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	93					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		p.R93C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		ACTTGAGTGCGCAGGCAGGTG	0.557		NA											False	0	True	6:111913040	0
C1S	716	broad.mit.edu	37	12	7172426	7172426	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7172426C>A	ENST00000406697.1	+	9	1168	c.540C>A	c.(538-540)ttC>ttA	p.F180L	C1S_ENST00000360817.5_Missense_Mutation_p.F180L|C1S_ENST00000402681.3_Missense_Mutation_p.F13L|C1S_ENST00000328916.3_Missense_Mutation_p.F180L			P09871	C1S_HUMAN	complement component 1, s subcomponent	180	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGGATGTATTCACTGCACTGA	0.428		NA											False	0	True	12:7172426	0
SOCS5	0	broad.mit.edu	37	2	46987120	46987120	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:46987120T>C	ENST00000306503.5	+	2	1623	c.1451T>C	c.(1450-1452)cTg>cCg	p.L484P	SOCS5_ENST00000394861.2_Missense_Mutation_p.L484P	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	484	SOCS box.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCTTTTAGCCTGCAGTATATC	0.398		NA											False	0	False	2:46987120	0
ITFG3	83986	broad.mit.edu	37	16	313364	313364	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:313364A>T	ENST00000399932.3	+	9	1526	c.1075A>T	c.(1075-1077)Acg>Tcg	p.T359S	ITFG3_ENST00000442458.2_Missense_Mutation_p.T359S|ITFG3_ENST00000301678.3_Missense_Mutation_p.T359S|ITFG3_ENST00000301679.2_Missense_Mutation_p.T359S|ITFG3_ENST00000600536.1_Missense_Mutation_p.T359S|ITFG3_ENST00000450082.2_Missense_Mutation_p.T359S			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	359						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GCAGGAGCTGACGCCTCGCTG	0.652		NA											False	0	False	16:313364	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22663260	22663260	+	RNA	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr22:22663260A>G	ENST00000426066.1	+	0	623					NR_027293.1					NA											NA						CCTCTAAAATATGGGCCTCAT	0.249		NA											False	0	False	22:22663260	0
PDCD11	22984	broad.mit.edu	37	10	105158241	105158241	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:105158241G>C	ENST00000369797.3	+	2	152	c.58G>C	c.(58-60)Gag>Cag	p.E20Q		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	20					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCACAAACCAGAGAAAGCTTT	0.418		NA											False	0	False	10:105158241	0
TCTE1	202500	broad.mit.edu	37	6	44248064	44248064	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:44248064G>A	ENST00000371505.4	-	5	1482	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.R151C|TCTE1_ENST00000371504.1_Missense_Mutation_p.R151C	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	454										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGACAGGCGCAAGTCAAAT	0.582		NA											False	0	False	6:44248064	0
FAM65A	79567	broad.mit.edu	37	16	67576517	67576517	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67576517C>G	ENST00000540839.3	+	14	2108	c.1888C>G	c.(1888-1890)Cat>Gat	p.H630D	FAM65A_ENST00000428437.2_Missense_Mutation_p.H624D|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000379312.3_Missense_Mutation_p.H614D|FAM65A_ENST00000422602.2_Missense_Mutation_p.H630D|FAM65A_ENST00000042381.4_Missense_Mutation_p.H610D			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	614	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AAGCCCTACCCATACCACAGC	0.547		NA											False	0	True	16:67576517	0
SLC11A1	6556	broad.mit.edu	37	2	219251895	219251895	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251895G>C	ENST00000233202.6	+	6	853	c.513G>C	c.(511-513)tgG>tgC	p.W171C	SLC11A1_ENST00000539932.1_Missense_Mutation_p.W53C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	171					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCACTCTGGGGTGGCGTCC	0.602		NA											False	0	True	2:219251895	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7577548	0
FCGBP	8857	broad.mit.edu	37	19	40408807	40408807	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:40408807G>A	ENST00000221347.6	-	8	4039	c.4032C>T	c.(4030-4032)aaC>aaT	p.N1344N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1344	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGATCTGGCCGTTGGCCAGCA	0.587		NA											False	0	False	19:40408807	0
ENTPD8	377841	broad.mit.edu	37	9	140330612	140330612	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:140330612G>T	ENST00000371506.2	-	7	1086	c.903C>A	c.(901-903)ctC>ctA	p.L301L	ENTPD8_ENST00000472938.1_Silent_p.L301L|ENTPD8_ENST00000344119.2_Silent_p.L301L	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	301						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGTTCTGGGGGAGGCTCAGCG	0.642		NA											False	0	True	9:140330612	0
DAPP1	27071	broad.mit.edu	37	4	100784951	100784951	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:100784951G>C	ENST00000296414.7	+	7	706	c.625G>C	c.(625-627)Gac>Cac	p.D209H	DAPP1_ENST00000512369.1_Missense_Mutation_p.D209H			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	209	PH.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TCGGATCCTAGACCTAACAGA	0.303		NA											False	0	False	4:100784951	0
PHOSPHO1	0	broad.mit.edu	37	17	47301945	47301945	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:47301945C>A	ENST00000413580.1	-	3	959	c.542G>T	c.(541-543)gGa>gTa	p.G181V	PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.G181V|PHOSPHO1_ENST00000310544.4_Missense_Mutation_p.G156V	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	156					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity				NA			Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	AGCCAGCAGTCCCCGCGCATC	0.701		NA											False	0	True	17:47301945	0
MIR548I1	0	broad.mit.edu	37	3	125509346	125509346	+	RNA	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:125509346G>A	ENST00000408810.1	-	0	49					NR_031687.1					NA											NA						ggcaaaatccgcaattacttt	0.398		NA											False	0	False	3:125509346	0
AMPH	273	broad.mit.edu	37	7	38502605	38502605	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:38502605G>A	ENST00000356264.2	-	10	1073	c.858C>T	c.(856-858)ccC>ccT	p.P286P	AMPH_ENST00000325590.5_Silent_p.P286P|AMPH_ENST00000428293.2_Silent_p.P286P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	286					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGCTGGTGCGGGAGACGCAG	0.547		NA											False	0	True	7:38502605	0
TNFAIP3	7128	broad.mit.edu	37	6	138202266	138202266	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:138202266G>A	ENST00000237289.4	+	9	2249	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	728	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTGGCCTGCCGCAGCGAGGAG	0.657		NA	"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								False	0	False	6:138202266	0
FBXL12	54850	broad.mit.edu	37	19	9921950	9921950	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:9921950G>A	ENST00000247977.4	-	3	844	c.603C>T	c.(601-603)ctC>ctT	p.L201L	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.L148L|FBXL12_ENST00000591009.1_Silent_p.L148L|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	201							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GCAGATAGCTGAGCTCCTGCA	0.667		NA											False	0	False	19:9921950	0
MAP3K9	4293	broad.mit.edu	37	14	71200060	71200060	+	Splice_Site	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:71200060C>G	ENST00000554752.2	-	11	2026		c.e11-1		MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	NA					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tcctcatcctctgtgaagatg	0.542		NA											False	0	False	14:71200060	0
DRD1	1812	broad.mit.edu	37	5	174869707	174869707	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:174869707C>G	ENST00000393752.2	-	2	1388	c.396G>C	c.(394-396)gaG>gaC	p.E132D		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	132					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			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)	TCATCTTTCTCTCATACCGGA	0.542		NA											False	0	True	5:174869707	0
FAM114A1	92689	broad.mit.edu	37	4	38933133	38933133	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:38933133C>T	ENST00000358869.2	+	11	1399	c.1223C>T	c.(1222-1224)gCa>gTa	p.A408V	FAM114A1_ENST00000515037.1_Missense_Mutation_p.A201V	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	408						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTAGATGTGGCAAAAGTGTCC	0.453		NA											False	0	True	4:38933133	0
THRAP3	9967	broad.mit.edu	37	1	36752630	36752630	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752630C>T	ENST00000354618.5	+	4	1023	c.799C>T	c.(799-801)Cct>Tct	p.P267S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	267	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCACCCCGTCCTAGCCCCGT	0.617		NA	T	USP6	aneurysmal bone cysts								False	0	False	1:36752630	0
DIDO1	11083	broad.mit.edu	37	20	61512310	61512310	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:61512310G>T	ENST00000266070.4	-	16	5323	c.4998C>A	c.(4996-4998)ggC>ggA	p.G1666G	DIDO1_ENST00000395343.1_Silent_p.G1666G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1666					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTGCAGGGCGCCGCAAGGCG	0.726		NA											False	0	False	20:61512310	0
SCN5A	6331	broad.mit.edu	37	3	38671831	38671831	+	Silent	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:38671831C>G	ENST00000413689.1	-	3	556	c.363G>C	c.(361-363)cgG>cgC	p.R121R	SCN5A_ENST00000423572.2_Silent_p.R121R|SCN5A_ENST00000450102.2_Silent_p.R121R|SCN5A_ENST00000425664.1_Silent_p.R121R|SCN5A_ENST00000449557.2_Silent_p.R121R|SCN5A_ENST00000414099.2_Silent_p.R121R|SCN5A_ENST00000443581.1_Silent_p.R121R|SCN5A_ENST00000455624.2_Silent_p.R121R|SCN5A_ENST00000451551.2_Silent_p.R121R|SCN5A_ENST00000333535.4_Silent_p.R121R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	121					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGCCGCTCTCCGGATGGGGT	0.557		NA											False	0	False	3:38671831	0
CLCC1	23155	broad.mit.edu	37	1	109477302	109477302	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:109477302G>A	ENST00000369971.2	-	11	1775	c.1646C>T	c.(1645-1647)cCc>cTc	p.P549L	CLCC1_ENST00000415331.1_Missense_Mutation_p.P499L|CLCC1_ENST00000482889.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.P364L|CLCC1_ENST00000302500.4_Missense_Mutation_p.P428L|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.P549L|CLCC1_ENST00000348264.2_Missense_Mutation_p.P364L|CLCC1_ENST00000369969.2_Missense_Mutation_p.P428L|CLCC1_ENST00000369970.3_Missense_Mutation_p.P499L	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	549						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTAGCCACAGGGGCTGCTGAC	0.547		NA											False	0	True	1:109477302	0
TLN1	7094	broad.mit.edu	37	9	35700280	35700280	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:35700280C>T	ENST00000314888.9	-	49	6921	c.6568G>A	c.(6568-6570)Gtt>Att	p.V2190I	TLN1_ENST00000540444.1_Missense_Mutation_p.V2078I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2190					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCAGCAACGGCCTTGGCG	0.547		NA											False	0	False	9:35700280	0
ARHGAP31	57514	broad.mit.edu	37	3	119121031	119121031	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:119121031C>T	ENST00000264245.4	+	10	1964	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	478					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCCTCGCCGCGTAACCAGCG	0.587		NA											False	0	False	3:119121031	0
TMEM214	54867	broad.mit.edu	37	2	27261588	27261588	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:27261588G>C	ENST00000238788.9	+	12	1374	c.1312G>C	c.(1312-1314)Gaa>Caa	p.E438Q	TMEM214_ENST00000404032.3_Missense_Mutation_p.E393Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	438						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTCTTTGCAAGAAACCATTCA	0.512		NA											False	0	True	2:27261588	0
CCDC148	130940	broad.mit.edu	37	2	159077147	159077147	+	Nonsense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:159077147T>A	ENST00000283233.5	-	11	1643	c.1330A>T	c.(1330-1332)Aag>Tag	p.K444*	CCDC148_ENST00000409187.1_Nonsense_Mutation_p.K453*|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	444										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATTAATTTCTTCAGTTCTTCT	0.328		NA											False	0	False	2:159077147	0
GGT3P	0	broad.mit.edu	37	22	18769259	18769259	+	RNA	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr22:18769259A>C	ENST00000412448.1	-	0	1027										NA											NA						AGAACACCTCACTGGGGCAGA	0.652		NA											False	0	False	22:18769259	0
PPARGC1B	133522	broad.mit.edu	37	5	149216585	149216585	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:149216585C>G	ENST00000309241.5	+	8	2599	c.2567C>G	c.(2566-2568)tCt>tGt	p.S856C	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S856C|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S792C|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S817C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	856					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGCTCAAGCTCTGGCTCTTCA	0.637		NA											False	0	False	5:149216585	0
CAPN5	726	broad.mit.edu	37	11	76833726	76833726	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:76833726C>T	ENST00000278559.3	+	12	1897	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.R610C|CAPN5_ENST00000529629.1_Missense_Mutation_p.R570C	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	570	C2.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CATCTTCTACCGCAAGAAGCT	0.567		NA											False	0	False	11:76833726	0
ARHGAP21	57584	broad.mit.edu	37	10	24908567	24908567	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:24908567G>A	ENST00000396432.2	-	9	2743	c.2257C>T	c.(2257-2259)Cat>Tat	p.H753Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H540Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	752					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TAAGACTGATGCCTTAAAGGC	0.473		NA											False	0	False	10:24908567	0
UBASH3B	84959	broad.mit.edu	37	11	122667631	122667631	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:122667631G>A	ENST00000284273.5	+	9	1622	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	416	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CGCTACATACGCACCAACCTG	0.473		NA											False	0	False	11:122667631	0
MFSD7	84179	broad.mit.edu	37	4	678335	678335	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:678335G>C	ENST00000322224.4	-	6	1090	c.777C>G	c.(775-777)atC>atG	p.I259M	MFSD7_ENST00000347950.5_Missense_Mutation_p.I141M|MFSD7_ENST00000503156.1_Missense_Mutation_p.I195M|MFSD7_ENST00000404286.2_Missense_Mutation_p.I260M|MFSD7_ENST00000515118.1_Missense_Mutation_p.I163M			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	260					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGAGATCCCGATCATTCCCC	0.642		NA									OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	4:678335	0
RNF111	54778	broad.mit.edu	37	15	59359283	59359283	+	Splice_Site	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:59359283G>C	ENST00000348370.4	+	6	2119		c.e6+1		RNF111_ENST00000561186.1_Splice_Site|RNF111_ENST00000557998.1_Splice_Site|RNF111_ENST00000434298.1_Splice_Site|RNF111_ENST00000559209.1_Splice_Site	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	NA					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCATGAACAGGTATGTGGAAT	0.468		NA											False	0	False	15:59359283	0
ZNF746	155061	broad.mit.edu	37	7	149171720	149171720	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:149171720G>A	ENST00000340622.3	-	7	1970	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	ZNF746_ENST00000458143.2_Missense_Mutation_p.R565W			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	564					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GTGAAGGGCCGCACGCCCGTG	0.672		NA											False	0	False	7:149171720	0
SLC25A53	401612	broad.mit.edu	37	X	103349565	103349565	+	Missense_Mutation	SNP	C	C	T	rs112530678	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:103349565C>T	ENST00000357421.4	-	2	556	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	126					transport	integral to membrane|mitochondrial inner membrane					NA						GCCTCCACCACGCCAGACATG	0.582		NA											False	0	False	X:103349565	0
LAMB3	3914	broad.mit.edu	37	1	209799171	209799171	+	Missense_Mutation	SNP	C	C	G	rs35794952		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:209799171C>G	ENST00000391911.1	-	13	2187	c.1798G>C	c.(1798-1800)Ggt>Cgt	p.G600R	LAMB3_ENST00000367030.3_Missense_Mutation_p.G600R|LAMB3_ENST00000356082.4_Missense_Mutation_p.G600R	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	600	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGGAGTCTACCAAAGCGCAGG	0.632		NA											False	0	True	1:209799171	0
DEFB135	613209	broad.mit.edu	37	8	11841997	11841997	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:11841997C>T	ENST00000382208.2	+	2	132	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	44					defense response to bacterium	extracellular region				endometrium(1)|large_intestine(2)|prostate(1)	4						AAGGTACTTGCCGGCCAAAAT	0.373		NA											False	0	False	8:11841997	0
TRAIP	10293	broad.mit.edu	37	3	49867474	49867474	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:49867474C>T	ENST00000331456.2	-	12	1178	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	TRAIP_ENST00000469027.1_Silent_p.K200K	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	355	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTTGCATATCTTCTTGGGGA	0.532		NA											False	0	False	3:49867474	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047922	46047922	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:46047922C>T	ENST00000397911.3	+	1	883	c.834C>T	c.(832-834)cgC>cgT	p.R278R	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	278						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGTGCTCCCGCCCGGCCTGCT	0.692		NA											False	0	True	21:46047922	0
WBP7	0	broad.mit.edu	37	19	36220898	36220898	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:36220898A>G	ENST00000222270.7	+	23	4948	c.4948A>G	c.(4948-4950)Acg>Gcg	p.T1650A	WBP7_ENST00000420124.1_Missense_Mutation_p.T1650A|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1				NA											NA						GCCTGGCGCCACGGTGGGCTG	0.642		NA											False	0	False	19:36220898	0
POP1	10940	broad.mit.edu	37	8	99170241	99170241	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:99170241G>T	ENST00000401707.2	+	16	2898	c.2817G>T	c.(2815-2817)ggG>ggT	p.G939G	POP1_ENST00000349693.3_Silent_p.G939G	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	939					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCGTGGCTGGGCAGGAAGCTC	0.572		NA											False	0	True	8:99170241	0
CACNG2	10369	broad.mit.edu	37	22	36962506	36962506	+	Silent	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr22:36962506C>A	ENST00000300105.6	-	3	1311	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	110					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GAATCACACTCAGGATTGGGA	0.552		NA											False	0	False	22:36962506	0
SLC11A1	6556	broad.mit.edu	37	2	219251897	219251897	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251897G>T	ENST00000233202.6	+	6	855	c.515G>T	c.(514-516)gGt>gTt	p.G172V	SLC11A1_ENST00000539932.1_Missense_Mutation_p.G54V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	172					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACTCTGGGGTGGCGTCCTC	0.602		NA											False	0	True	2:219251897	0
DPP10	57628	broad.mit.edu	37	2	116510788	116510788	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:116510788C>A	ENST00000410059.1	+	11	1469	c.989C>A	c.(988-990)aCc>aAc	p.T330N	DPP10_ENST00000310323.8_Missense_Mutation_p.T323N|DPP10_ENST00000393147.2_Missense_Mutation_p.T334N|DPP10_ENST00000409163.1_Missense_Mutation_p.T280N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	330					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTAAGCAATACCAAGACTGTG	0.363		NA											False	0	False	2:116510788	0
SMTNL1	219537	broad.mit.edu	37	11	57311123	57311123	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:57311123G>A	ENST00000457912.1	+	3	813	c.813G>A	c.(811-813)caG>caA	p.Q271Q	SMTNL1_ENST00000399154.2_Silent_p.Q216Q|SMTNL1_ENST00000527972.1_Silent_p.Q253Q			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	253										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GCGAAGAGCAGGAGCAGGACG	0.607		NA											False	0	True	11:57311123	0
