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-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	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
SMPD1	6609	broad.mit.edu	37	11	6411931	6411954	+	In_Frame_Del	DEL	CTGGTGCTGGCGCTGGCGCTGGCG	CTGGTGCTGGCGCTGGCGCTGGCG	-	rs71467507	by1000genomes	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	CTGGTGCTGGCGCTGGCGCTGGCG	CTGGTGCTGGCGCTGGCGCTGGCG	-	-	CTGGTGCTGGCGCTGGCGCTGGCG	CTGGTGCTGGCGCTGGCGCTGGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:6411931_6411954delCTGGTGCTGGCGCTGGCGCTGGCG	ENST00000342245.4	+	1	271_294	c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	c.(103-126)ctggtgctggcgctggcgctggcgdel	p.LVLALALA35del	SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000527275.1_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000299397.3_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000356761.2_In_Frame_Del_p.LVLALALA35del	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	35				Missing (in Ref. 4; CAA42584).	cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.L39V(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	TTGGATGGGCctggtgctggcgctggcgctggcgctggcgctgg	0.701		NA											False	1	True	11:6411931	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	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
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	NA						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579		NA											False	0	False	15:41857341	0
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483		NA											False	1	True	2:233708804	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
SLC7A9	11136	broad.mit.edu	37	19	33334838	33334838	+	Missense_Mutation	SNP	G	G	A	rs121908484		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:33334838G>A	ENST00000023064.4	-	10	1188	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	SLC7A9_ENST00000590341.1_Missense_Mutation_p.R333W|SLC7A9_ENST00000587772.1_Missense_Mutation_p.R333W	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	333			R -> W (in CSNU; frequent mutation; severe loss of amino acid transport activity).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGACCCTCCCGGCCCGCCACG	0.567		NA											False	0	True	19:33334838	0
ROBO2	6092	broad.mit.edu	37	3	77600066	77600066	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:77600066C>T	ENST00000461745.1	+	8	2057	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V|ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	386	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGTTCCGACGCGGGTTACTAC	0.473		NA											False	0	True	3:77600066	0
ATP6V0A4	50617	broad.mit.edu	37	7	138434008	138434008	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:138434008C>A	ENST00000310018.2	-	12	1366	c.1084G>T	c.(1084-1086)Gcc>Tcc	p.A362S	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A362S|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A362S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	362					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGGAGGGGCTGTTTTAGAT	0.453		NA											False	0	True	7:138434008	0
RELN	5649	broad.mit.edu	37	7	103474008	103474008	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:103474008G>A	ENST00000428762.1	-	3	608	c.449C>T	c.(448-450)gCg>gTg	p.A150V	RELN_ENST00000343529.5_Missense_Mutation_p.A150V|RELN_ENST00000424685.2_Missense_Mutation_p.A150V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	150	Reelin.				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)		GCCTGTGCCCGCAGGTGGAGC	0.473		NA											False	0	True	7:103474008	0
FAM71B	153745	broad.mit.edu	37	5	156592698	156592698	+	Missense_Mutation	SNP	C	C	A	rs146865558		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr5:156592698C>A	ENST00000302938.4	-	1	577	c.482G>T	c.(481-483)cGg>cTg	p.R161L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	161						nucleus		p.R161L(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGATCTTCCCGTGTGTCAGA	0.498		NA											False	0	True	5:156592698	0
OR52M1	119772	broad.mit.edu	37	11	4566917	4566917	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:4566917G>A	ENST00000360213.1	+	1	497	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATGATCCGCCTGCGGCTG	0.522		NA											False	0	False	11:4566917	0
COL6A2	0	broad.mit.edu	37	21	47549129	47549129	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:47549129C>T	ENST00000357838.4	+	28	2563	c.2481C>T	c.(2479-2481)ggC>ggT	p.G827G	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000397763.1_Silent_p.G827G	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	564	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCCTGGCGGCGAGCCCCCGG	0.672		NA											False	0	False	21:47549129	0
CENPI	2491	broad.mit.edu	37	X	100357364	100357364	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:100357364G>T	ENST00000372927.1	+	3	605	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	CENPI_ENST00000423383.1_Missense_Mutation_p.D110Y|CENPI_ENST00000218507.5_Missense_Mutation_p.D110Y|CENPI_ENST00000372926.1_Missense_Mutation_p.D110Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	110					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGAAGAAATTGATATTCTATT	0.313		NA											False	0	False	X:100357364	0
KCNH5	27133	broad.mit.edu	37	14	63269191	63269191	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:63269191G>A	ENST00000322893.7	-	9	1946	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCAAGGCGCGCAGACACCCA	0.512		NA											False	0	True	14:63269191	0
MED12L	116931	broad.mit.edu	37	3	151082925	151082925	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:151082925C>T	ENST00000474524.1	+	20	3049	c.3011C>T	c.(3010-3012)gCg>gTg	p.A1004V	MED12L_ENST00000273432.4_Missense_Mutation_p.A864V|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1004					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGACAATGCGGCCAATCGC	0.473		NA											False	0	False	3:151082925	0
TEP1	7011	broad.mit.edu	37	14	20858856	20858856	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:20858856G>A	ENST00000262715.5	-	15	2358	c.2318C>T	c.(2317-2319)gCt>gTt	p.A773V	TEP1_ENST00000556935.1_Missense_Mutation_p.A665V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	773					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTTGGCCAGCCAGAGACAG	0.438		NA											False	0	True	14:20858856	0
BRWD3	254065	broad.mit.edu	37	X	79971738	79971738	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:79971738T>A	ENST00000373275.4	-	20	2459	c.2243A>T	c.(2242-2244)gAa>gTa	p.E748V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	748										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGTTCGACATTCTTCCTGTAC	0.299		NA											False	0	False	X:79971738	0
CYB561	1534	broad.mit.edu	37	17	61513435	61513435	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:61513435G>A	ENST00000584031.1	-	3	580	c.281C>T	c.(280-282)gCg>gTg	p.A94V	CYB561_ENST00000448884.2_Missense_Mutation_p.A94V|CYB561_ENST00000582297.1_Missense_Mutation_p.A94V|CYB561_ENST00000542042.1_Missense_Mutation_p.A161V|CYB561_ENST00000581573.1_Missense_Mutation_p.A94V|CYB561_ENST00000582034.1_Missense_Mutation_p.A65V|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000392976.1_Missense_Mutation_p.A94V|CYB561_ENST00000582997.1_Missense_Mutation_p.A101V|CYB561_ENST00000392975.2_Missense_Mutation_p.A94V|CYB561_ENST00000360793.3_Missense_Mutation_p.A94V			P49447	CY561_HUMAN	cytochrome b561	94	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GATGACGAGCGCAAAGATGTG	0.612		NA											False	0	False	17:61513435	0
WWC3	55841	broad.mit.edu	37	X	10102530	10102530	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:10102530A>G	ENST00000380861.4	+	19	3048	c.2657A>G	c.(2656-2658)aAg>aGg	p.K886R	WWC3_ENST00000454666.1_Missense_Mutation_p.K886R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	886										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCCTCGTGAAGGAGCGGCCC	0.547		NA											False	0	False	X:10102530	0
MBNL2	10150	broad.mit.edu	37	13	97999092	97999092	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr13:97999092G>A	ENST00000345429.6	+	5	1356	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	MBNL2_ENST00000343600.4_Missense_Mutation_p.R192Q|MBNL2_ENST00000376673.3_Missense_Mutation_p.R192Q|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000397601.1_Missense_Mutation_p.R192Q	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	192					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AACTGTGCCCGGGGAGAGACC	0.607		NA											False	0	True	13:97999092	0
TROAP	10024	broad.mit.edu	37	12	49717988	49717988	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:49717988C>T	ENST00000380327.5	+	4	488	c.388C>T	c.(388-390)Cct>Tct	p.P130S	TROAP_ENST00000257909.3_Intron|TROAP_ENST00000551245.1_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000549534.1_3'UTR	NM_001100620.1	NP_001094090.1	Q12815	TROAP_HUMAN	trophinin associated protein	335					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ATCTCCCTTTCCTCCAGCAAA	0.522		NA											False	0	True	12:49717988	0
AGGF1	55109	broad.mit.edu	37	5	76332530	76332530	+	Silent	SNP	T	T	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr5:76332530T>G	ENST00000312916.7	+	4	1048	c.666T>G	c.(664-666)ggT>ggG	p.G222G		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	222					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACAGCACTGGTTTCTATTATG	0.423		NA											False	0	True	5:76332530	0
HERPUD1	9709	broad.mit.edu	37	16	56973198	56973198	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:56973198G>A	ENST00000439977.2	+	5	678	c.481G>A	c.(481-483)Ggt>Agt	p.G161S	HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G136S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.G160S|HERPUD1_ENST00000344114.4_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	161						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TGGTTTCTCCGGTTACACACC	0.493		NA	T	ERG	prostate								False	0	False	16:56973198	0
PID1	55022	broad.mit.edu	37	2	229890686	229890686	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:229890686G>A	ENST00000392054.3	-	4	748	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	PID1_ENST00000354069.6_Missense_Mutation_p.R139W|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.R106W|PID1_ENST00000409462.1_Missense_Mutation_p.R57W	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	139	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGGAATGGCCGGATTTCCAGG	0.567		NA											False	0	False	2:229890686	0
RP11-3P17.4	0	broad.mit.edu	37	3	161147009	161147009	+	RNA	SNP	A	A	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1					NA											NA						CCGAATCAGGATGTTGACCTT	0.438		NA											False	0	False	3:161147009	0
ZNF733P	0	broad.mit.edu	37	7	62752318	62752318	+	RNA	SNP	T	T	C	rs139668717	by1000genomes	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:62752318T>C	ENST00000331425.6	-	0	1117					NR_003952.1					NA											NA						ACATTCTTCATATGTGTAGGG	0.433		NA											False	0	False	7:62752318	0
ZNF496	84838	broad.mit.edu	37	1	247473673	247473673	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:247473673T>C	ENST00000294753.4	-	6	1201	c.737A>G	c.(736-738)tAt>tGt	p.Y246C	ZNF496_ENST00000366498.2_Missense_Mutation_p.Y282C|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	246	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAACTCTCCATAGAAGCCAGT	0.507		NA											False	0	False	1:247473673	0
DPY19L2P2	0	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389										NA											NA						TCTGGATAAATATGGAAGCGT	0.343		NA											False	0	True	7:102912190	0
SLC27A3	11000	broad.mit.edu	37	1	153747855	153747855	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:153747855G>A	ENST00000271857.2	+	1	1026	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SLC27A3_ENST00000368661.3_Missense_Mutation_p.R8H|SLC27A3_ENST00000484014.1_3'UTR			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	8					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCGCACGCGCGCTCCCTGG	0.677		NA											False	0	True	1:153747855	0
NOVA1	4857	broad.mit.edu	37	14	27064659	27064659	+	Silent	SNP	A	A	T	rs115769795	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:27064659A>T	ENST00000539517.2	-	2	554	c.237T>A	c.(235-237)acT>acA	p.T79T	NOVA1_ENST00000465357.2_Silent_p.T79T|NOVA1_ENST00000574031.1_Silent_p.T79T|NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000547619.1_Silent_p.T79T|NOVA1_ENST00000344429.5_Silent_p.T79T|NOVA1_ENST00000267422.7_5'UTR	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	79	KH 1.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGTGGCTCCAGTTTCTTTTT	0.423		NA											False	0	False	14:27064659	0
ANKZF1	55139	broad.mit.edu	37	2	220096743	220096743	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:220096743T>C	ENST00000323348.5	+	3	416	c.242T>C	c.(241-243)tTc>tCc	p.F81S	ANKZF1_ENST00000410034.3_Missense_Mutation_p.F81S|ANKZF1_ENST00000409849.1_Intron	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	81						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCAGACCTTCCAGAACCAC	0.438		NA											False	0	False	2:220096743	0
TMPRSS15	5651	broad.mit.edu	37	21	19653400	19653400	+	Silent	SNP	G	G	A	rs148756781		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:19653400G>A	ENST00000284885.3	-	22	2658	c.2625C>T	c.(2623-2625)aaC>aaT	p.N875N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	875	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGGCAATGTCGTTGTCCTTTC	0.348		NA											False	0	False	21:19653400	0
RBP3	5949	broad.mit.edu	37	10	48389530	48389530	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr10:48389530C>T	ENST00000224600.4	-	1	1461	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	450	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGACGGAGGCGTCAGCAAAA	0.617		NA											False	0	False	10:48389530	0
PHF12	57649	broad.mit.edu	37	17	27239855	27239855	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:27239855C>T	ENST00000577226.1	-	9	2080	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Silent_p.R578R|PHF12_ENST00000332830.4_Silent_p.R578R			Q96QT6	PHF12_HUMAN	PHD finger protein 12	578	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCCAGCCTTGCCGGTGTGAGA	0.637		NA											False	0	False	17:27239855	0
GREB1	9687	broad.mit.edu	37	2	11772081	11772081	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:11772081G>A	ENST00000381486.2	+	27	4958	c.4658G>A	c.(4657-4659)cGt>cAt	p.R1553H	GREB1_ENST00000396123.1_Missense_Mutation_p.R551H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1553H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1553						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCACCGGCCGTCACGAACAT	0.443		NA											False	0	False	2:11772081	0
PLEKHA7	144100	broad.mit.edu	37	11	16872763	16872763	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:16872763C>T	ENST00000355661.3	-	8	681	c.671G>A	c.(670-672)cGc>cAc	p.R224H	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R224H|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R224H			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	224	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.R224H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCGGCTTATGCGATCCTCAGG	0.483		NA											False	0	False	11:16872763	0
PIK3C2A	5286	broad.mit.edu	37	11	17190613	17190613	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:17190613G>C	ENST00000265970.7	-	1	675	c.676C>G	c.(676-678)Cta>Gta	p.L226V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	226					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTGTCAAATAGTTTTGCCATG	0.378		NA											False	0	True	11:17190613	0
CARD9	64170	broad.mit.edu	37	9	139265516	139265516	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:139265516G>A	ENST00000371732.5	-	4	569	c.404C>T	c.(403-405)gCg>gTg	p.A135V	CARD9_ENST00000315908.7_Missense_Mutation_p.A135V|CARD9_ENST00000371734.3_Missense_Mutation_p.A135V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	135					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTCAGCAGCGCGGTCAGGTC	0.612		NA											False	0	False	9:139265516	0
ALDH16A1	126133	broad.mit.edu	37	19	49964157	49964157	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:49964157G>A	ENST00000293350.4	+	5	740		c.e5+1		ALDH16A1_ENST00000540132.1_Splice_Site|ALDH16A1_ENST00000433981.2_Splice_Site|ALDH16A1_ENST00000455361.2_Splice_Site	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	NA							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGGCTGTGGGTAAATGATGG	0.557		NA											False	0	True	19:49964157	0
CASP10	843	broad.mit.edu	37	2	202073970	202073970	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:202073970C>T	ENST00000286186.6	+	9	1535	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	CASP10_ENST00000346817.5_Missense_Mutation_p.S324L|CASP10_ENST00000313728.7_Missense_Mutation_p.S300L|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Missense_Mutation_p.S324L|CASP10_ENST00000272879.5_Missense_Mutation_p.S367L	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	367					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTCTACTCTTCGGATGAGGCC	0.527		NA											False	0	False	2:202073970	0
KCNA4	3739	broad.mit.edu	37	11	30033662	30033662	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:30033662C>G	ENST00000328224.6	-	2	1797	c.564G>C	c.(562-564)gaG>gaC	p.E188D		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	188						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCATTTGGGTCTCAAAGCGTA	0.493		NA											False	0	False	11:30033662	0
FAM8A1	51439	broad.mit.edu	37	6	17608527	17608527	+	Missense_Mutation	SNP	T	T	C	rs141097358	by1000genomes	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:17608527T>C	ENST00000259963.3	+	5	1254	c.1199T>C	c.(1198-1200)aTt>aCt	p.I400T		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	400	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCTTATGACATTGTAGCAGGA	0.398		NA											False	0	False	6:17608527	0
MST1R	4486	broad.mit.edu	37	3	49932714	49932714	+	Missense_Mutation	SNP	G	G	A	rs144584611		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:49932714G>A	ENST00000296474.3	-	14	3184	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1053					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACTCTTTCCGCAGCAGTGGC	0.567		NA											False	0	False	3:49932714	0
FAM120A	23196	broad.mit.edu	37	9	96326634	96326634	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:96326634G>A	ENST00000277165.6	+	18	3363	c.3169G>A	c.(3169-3171)Gag>Aag	p.E1057K	FAM120A_ENST00000340893.4_Missense_Mutation_p.E1011K|FAM120A_ENST00000333936.5_Missense_Mutation_p.E1085K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1057	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTGATGGCCGAGGAGAAGCC	0.537		NA											False	0	False	9:96326634	0
SEPHS2	22928	broad.mit.edu	37	16	30456632	30456632	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:30456632G>T	ENST00000478753.2	-	1	870	c.417C>A	c.(415-417)ttC>ttA	p.F139L	SEPHS2_ENST00000542752.1_Missense_Mutation_p.F82L|SEPHS2_ENST00000500504.2_Missense_Mutation_p.F139L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	139					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGGGGTAAAAGAAGTCCGTGG	0.602		NA											False	0	True	16:30456632	0
BRWD3	254065	broad.mit.edu	37	X	79971717	79971717	+	Missense_Mutation	SNP	T	T	A	rs146207659		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:79971717T>A	ENST00000373275.4	-	20	2480	c.2264A>T	c.(2263-2265)gAc>gTc	p.D755V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	755										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GATTTCTATGTCACCTTTTGC	0.323		NA											False	0	False	X:79971717	0
GPR116	221395	broad.mit.edu	37	6	46830721	46830721	+	Silent	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:46830721G>A	ENST00000283296.7	-	15	2391	c.2103C>T	c.(2101-2103)ggC>ggT	p.G701G	GPR116_ENST00000265417.7_Silent_p.G701G|GPR116_ENST00000456426.2_Silent_p.G559G|GPR116_ENST00000362015.4_Silent_p.G701G|GPR116_ENST00000545669.1_Silent_p.G130G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	701					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGATGGTCCCGCCAATGGGAC	0.537		NA											False	0	True	6:46830721	0
CNTN6	27255	broad.mit.edu	37	3	1418745	1418745	+	Missense_Mutation	SNP	G	G	A	rs140014929		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:1418745G>A	ENST00000446702.2	+	17	2779	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I	CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I|CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I			Q9UQ52	CNTN6_HUMAN	contactin 6	718	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.V718I(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCTGAACTCGTCATTACGTG	0.373		NA											False	0	False	3:1418745	0
CSMD1	64478	broad.mit.edu	37	8	3263557	3263557	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr8:3263557C>T	ENST00000602557.1	-	16	2816	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	CSMD1_ENST00000602723.1_Missense_Mutation_p.R754H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R754H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R753H|CSMD1_ENST00000520002.1_Missense_Mutation_p.R754H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R753H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R753H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	754	Sushi 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCTTCACAGCGGGGCACGGT	0.532		NA											False	0	True	8:3263557	0
SI	6476	broad.mit.edu	37	3	164786914	164786914	+	Missense_Mutation	SNP	C	C	T	rs149498200		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:164786914C>T	ENST00000264382.3	-	4	387	c.325G>A	c.(325-327)Gtt>Att	p.V109I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	109	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGATTATCAACGAAGAAGCAC	0.363		NA								HNSCC(35;0.089)			False	0	False	3:164786914	0
PSMC6	5706	broad.mit.edu	37	14	53194224	53194224	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:53194224C>T	ENST00000445930.2	+	14	1107	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	PSMC6_ENST00000606149.1_Silent_p.F353F|PSMC6_ENST00000557557.1_3'UTR			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	353					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					CAGGTATGTTCGCAATTCGTG	0.323		NA											False	0	False	14:53194224	0
MAVS	57506	broad.mit.edu	37	20	3844972	3844972	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:3844972G>A	ENST00000428216.2	+	6	823	c.695G>A	c.(694-696)cGt>cAt	p.R232H	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.R91H	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	232					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCCTGGCCCGTTCCACCCCC	0.622		NA											False	0	True	20:3844972	0
POLD1	5424	broad.mit.edu	37	19	50909518	50909518	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:50909518C>T	ENST00000440232.2	+	11	1375	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	POLD1_ENST00000599857.1_Missense_Mutation_p.T441M|POLD1_ENST00000595904.1_Missense_Mutation_p.T441M	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	441					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCAAGCAGACGGGCCGGCGG	0.622		NA						DNA polymerases (catalytic subunits)					False	0	True	19:50909518	0
THBS1	7057	broad.mit.edu	37	15	39884787	39884787	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr15:39884787C>T	ENST00000260356.5	+	17	2716	c.2551C>T	c.(2551-2553)Cgc>Tgc	p.R851C		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	851					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)	TGACTCAGACCGCATTGGAGA	0.453		NA											False	0	False	15:39884787	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
RRN3P2	0	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111										NA								p.L368P(6)			NA						TTGCAGTATCTTCAGAGTCTG	0.328		NA											False	0	False	16:29110438	0
RHBDF1	64285	broad.mit.edu	37	16	108512	108512	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:108512G>A	ENST00000262316.6	-	18	2537	c.2395C>T	c.(2395-2397)Cgg>Tgg	p.R799W		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	799					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGCGTTTCCGGTACAGGTCG	0.552		NA											False	0	False	16:108512	0
SDK1	221935	broad.mit.edu	37	7	4119186	4119186	+	Silent	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:4119186G>A	ENST00000404826.2	+	22	3433	c.3294G>A	c.(3292-3294)acG>acA	p.T1098T	SDK1_ENST00000389531.3_Silent_p.T1098T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1098	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACGGGAAAACGTCCATCTCCA	0.572		NA											False	0	False	7:4119186	0
KCNJ6	3763	broad.mit.edu	37	21	39087258	39087258	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:39087258C>T	ENST00000609713.1	-	3	791	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	KCNJ6_ENST00000288309.6_Missense_Mutation_p.G68S	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	NA					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTCACGTTGCCGTGATGAACA	0.488		NA											False	0	False	21:39087258	0
TIMM50	92609	broad.mit.edu	37	19	39971399	39971399	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:39971399A>C	ENST00000314349.4	+	1	348	c.215A>C	c.(214-216)cAc>cCc	p.H72P		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	47					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTTCCGTCCACCCGCCCCTC	0.697		NA											False	0	True	19:39971399	0
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413		NA											False	0	False	18:48591918	0
WDR82	80335	broad.mit.edu	37	3	52292632	52292632	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:52292632C>A	ENST00000296490.3	-	8	1113	c.832G>T	c.(832-834)Gat>Tat	p.D278Y		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	278					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding				NA				BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGTTTACCATCCAACACAGCT	0.448		NA											False	0	False	3:52292632	0
IFNL3	282617	broad.mit.edu	37	19	39735442	39735442	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:39735442C>T	ENST00000413851.2	-	1	204	c.166G>A	c.(166-168)Gcc>Acc	p.A56T		NM_172139.2	NP_742151.2			interferon, lambda 3	NA											NA						GCATCTTTGGCCCTCTTAAAG	0.622		NA											False	0	True	19:39735442	0
FIGN	55137	broad.mit.edu	37	2	164466403	164466403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:164466403G>A	ENST00000333129.3	-	3	2253	c.1939C>T	c.(1939-1941)Cga>Tga	p.R647*	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	647						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATTAAAAGTCGTTTCATGAAG	0.443		NA											False	0	True	2:164466403	0
