Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													7	6					0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57117340	57117340	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr11:57117340G>T	ENST00000263314.2	+	7	707	c.673G>T	c.(673-675)Gcg>Tcg	p.A225S		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	225					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GGTCAAGTTTGCGGGGCAGGA	0.607000											OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	29					0.00307968	0.00314812	1	1	0
PER1	5187	broad.mit.edu	37	17	8045618	8045618	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr17:8045618G>A	ENST00000317276.4	-	21	3655	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	PER1_ENST00000581082.1_Missense_Mutation_p.R1117C	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1140					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATCATGACGCGCTGGTCAGCA	0.587000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					12	15					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202588118	202588118	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr2:202588118T>C	ENST00000264276.6	-	22	3931	c.3559A>G	c.(3559-3561)Aat>Gat	p.N1187D	ALS2_ENST00000457679.2_Missense_Mutation_p.N499D	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1187					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACCACACCATTCCCTTGACAC	0.383000													49	116					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929322	4929322	+	Silent	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr11:4929322C>T	ENST00000359350.4	+	1	723	c.723C>T	c.(721-723)gtC>gtT	p.V241V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATACCTGTGTCTCCCACATCT	0.473000													34	157					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073337	8073337	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr1:8073337G>A	ENST00000377482.5	-	4	1545	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	441					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	p.S441*(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TTTTGTTTTTGAGTCTGGCTT	0.443000													5	106					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215914373	215914373	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr2:215914373C>G	ENST00000272895.7	-	6	889	c.670G>C	c.(670-672)Gaa>Caa	p.E224Q		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	224					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGTTTAGTTCTTGGAGAGAA	0.383000													9	49					0	0	1	0	0
BDH2	56898	broad.mit.edu	37	4	104006526	104006526	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr4:104006526C>A	ENST00000296424.4	-	7	632	c.512G>T	c.(511-513)aGg>aTg	p.R171M		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	171					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		ACAGTTGCACCTGATGCCCTG	0.478000													7	13					1.06961e-07	1.1577e-07	1	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140810513	140810513	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr5:140810513G>A	ENST00000252085.3	+	1	329	c.187G>A	c.(187-189)Gga>Aga	p.G63R	PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGCGCGGAGTCCGCAT	0.652000													5	209					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45457771	45457771	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr21:45457771C>T	ENST00000291574.4	+	3	423	c.248C>T	c.(247-249)aCg>aTg	p.T83M	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.T83M	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	83					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCTCTGCTCACGTTTCCCTTC	0.522000													6	116					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	T	rs11575997		TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr17:7576852C>T	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(24)|p.0?(8)|p.I332fs*49(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)		AGACTTAGTACCTGAAGGGTG	0.458000		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)			9	76					0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026421	129026421	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr2:129026421A>G	ENST00000259241.6	-	2	564	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	184					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGTCTCGTAGCAGGGTGAT	0.622000													3	44					0	0	1	0	0
PPM1J	333926	broad.mit.edu	37	1	113253428	113253428	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr1:113253428G>A	ENST00000464951.1	-	9	1946	c.538C>T	c.(538-540)Cac>Tac	p.H180Y	RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.P67L|RP11-426L16.10_ENST00000471038.2_5'UTR|PPM1J_ENST00000309276.6_Missense_Mutation_p.H386Y|PPM1J_ENST00000359994.4_Missense_Mutation_p.H180Y			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	386	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTAAGGCTGTGGTCTCCCAAG	0.562000													37	55					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977722	70977722	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr16:70977722C>T	ENST00000393567.2	-	42	6812	c.6662G>A	c.(6661-6663)cGg>cAg	p.R2221Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2221										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCTGTATCCGCTCTGCCAG	0.617000													9	33					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499182	75499182	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr15:75499182G>A	ENST00000360639.2	+	2	1113	c.793G>A	c.(793-795)Ggg>Agg	p.G265R	C15orf39_ENST00000567617.1_Missense_Mutation_p.G265R|C15orf39_ENST00000394987.4_Missense_Mutation_p.G265R			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	265										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TCAGGACACCGGGCccaccca	0.667000													3	16					0	0	1	0	0
RPS12	6206	broad.mit.edu	37	6	133138134	133138134	+	Silent	SNP	C	C	G	rs146638149		TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr6:133138134C>G	ENST00000230050.3	+	5	480	c.270C>G	c.(268-270)ggC>ggG	p.G90G		NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	90					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		AATGGGTAGGCCTTTGTAAAA	0.358000													3	75					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336615	42336615	+	Silent	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr17:42336615G>A	ENST00000262418.6	-	9	947	c.792C>T	c.(790-792)ttC>ttT	p.F264F	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	264					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACACAAAGAGGAAGCGTATAG	0.662000													6	74					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14523242	14523242	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr3:14523242C>T	ENST00000454876.2	+	14	1944	c.1615C>T	c.(1615-1617)Ccc>Tcc	p.P539S	SLC6A6_ENST00000360861.3_Missense_Mutation_p.P539S			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	539				YPN -> SPT (in Ref. 1; CAA79481).	cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ATACGTGTACCCCAACTGGGC	0.592000													5	160					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841495	70841495	+	Silent	SNP	C	C	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr16:70841495C>A	ENST00000393567.2	-	86	15504	c.15354G>T	c.(15352-15354)ggG>ggT	p.G5118G		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5118										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAGGGTGATCCCCTTCAGAT	0.443000													27	103					1.55811e-20	1.76971e-20	1	1	0
NAP1L3	4675	broad.mit.edu	37	X	92928146	92928146	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chrX:92928146C>T	ENST00000373079.3	-	1	421	c.158G>A	c.(157-159)gGc>gAc	p.G53D	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	53	Ser-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						gctgctgctgccactagtgct	0.587000													4	16					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523595	23523595	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr22:23523595A>G	ENST00000305877.8	+	1	1199	c.448A>G	c.(448-450)Agc>Ggc	p.S150G	BCR_ENST00000398512.5_Missense_Mutation_p.S150G|BCR_ENST00000359540.3_Missense_Mutation_p.S150G	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	150	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						ACCCCCCGCCAGCGTGGCGGC	0.741000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								18	73					0	0	1	0	0
MRPS30	10884	broad.mit.edu	37	5	44815046	44815046	+	Silent	SNP	T	T	G			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr5:44815046T>G	ENST00000507110.1	+	5	1100	c.1062T>G	c.(1060-1062)ccT>ccG	p.P354P		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	354					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTACTCGACCTTTTGTCTCCC	0.373000													123	111					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155388	22155388	+	Silent	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr19:22155388C>T	ENST00000397126.4	-	4	2596	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTGAGACCTTACTAAAGG	0.368000													14	46					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66918476	66918476	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr16:66918476G>A	ENST00000311765.2	+	2	623	c.289G>A	c.(289-291)Gac>Aac	p.D97N	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	97					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAAGATTCTTGACCTTGAAAG	0.517000													34	79					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139876283	139876283	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr5:139876283A>T	ENST00000297183.6	+	15	2548	c.2424A>T	c.(2422-2424)caA>caT	p.Q808H	ANKHD1_ENST00000360839.2_Missense_Mutation_p.Q808H|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Q808H|ANKHD1_ENST00000462121.1_3'UTR	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTAATTCAAGGTGAACCTC	0.383000													26	73					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578256	58578256	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr19:58578256G>T	ENST00000506786.1	+	5	832	c.278G>T	c.(277-279)tGg>tTg	p.W93L	ZNF135_ENST00000313434.5_Missense_Mutation_p.W135L|ZNF135_ENST00000401053.4_Missense_Mutation_p.W159L|ZNF135_ENST00000511556.1_Missense_Mutation_p.W147L|ZNF135_ENST00000359978.6_Missense_Mutation_p.W147L|ZNF135_ENST00000439855.2_Missense_Mutation_p.W135L			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	147					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACTGGGAATGGAGTTGTGAG	0.537000													4	55					0.00909568	0.00919563	1	1	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													6	71					0	0	1	0	0
RNF113A	7737	broad.mit.edu	37	X	119005003	119005003	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chrX:119005003T>C	ENST00000371442.2	-	1	788	c.574A>G	c.(574-576)Acc>Gcc	p.T192A		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	192							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CAGCGCACGGTGGCACGTAGA	0.552000													77	177					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21994138	21994138	+	Splice_Site	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr9:21994138C>T	ENST00000579755.1	-	1	485	c.193_splice	c.e1+1	p.G65_splice	CDKN2A_ENST00000361570.3_Splice_Site_p.G106_splice|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000470819.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Splice_Site_p.G65_splice			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	82					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(198)|p.0(1)|p.G106C(1)|p.?(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTTTCCTACCTGGTCTTCTA	0.602000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	20					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326889	85326889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr15:85326889C>A	ENST00000299927.3	+	1	1005	c.983C>A	c.(982-984)tCa>tAa	p.S328*	ZNF592_ENST00000560079.2_Nonsense_Mutation_p.S328*			Q92610	ZN592_HUMAN	zinc finger protein 592	328					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGCCCAAGTCACCAAAGAGT	0.537000													34	111					6.97489e-18	7.82548e-18	1	1	0
PASD1	139135	broad.mit.edu	37	X	150773199	150773199	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chrX:150773199C>T	ENST00000370357.4	+	3	355	c.110C>T	c.(109-111)aCg>aTg	p.T37M		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	37	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AACCAAGTGACGCTACAGGTA	0.338000													12	22					0	0	1	0	0
C20orf96	140680	broad.mit.edu	37	20	257909	257909	+	Silent	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr20:257909G>A	ENST00000360321.2	-	7	819	c.681C>T	c.(679-681)tcC>tcT	p.S227S	C20orf96_ENST00000400269.3_Silent_p.S169S|C20orf96_ENST00000382369.5_Silent_p.S192S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	227										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCATAAGAGTGGAGATCTGGA	0.557000													73	198					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372																		p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647000													11	54					7.93312e-07	8.38905e-07	1	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282483	69282483	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chrX:69282483G>A	ENST00000338352.2	+	1	143	c.109G>A	c.(109-111)Gac>Aac	p.D37N		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	37										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CCCCAAGACCGACAAGACGAA	0.592000													10	21					0	0	1	0	0
BCL2L1	598	broad.mit.edu	37	20	30253791	30253791	+	Silent	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr20:30253791G>A	ENST00000307677.4	-	3	1073	c.663C>T	c.(661-663)gcC>gcT	p.A221A	BCL2L1_ENST00000376062.2_Silent_p.A221A|BCL2L1_ENST00000420653.1_Silent_p.A221A|BCL2L1_ENST00000376055.4_Silent_p.A158A	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	221					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GAACCACGCCGGCCACAGTCA	0.577000													22	69					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17445664	17445664	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr22:17445664G>T	ENST00000400588.1	-	8	1575	c.1468C>A	c.(1468-1470)Ctt>Att	p.L490I		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	490										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ACCGGGAAAAGATACCTCTCT	0.562000													5	27					0.184627	0.184627	1	1	0
SLC9C2	284525	broad.mit.edu	37	1	173523928	173523928	+	Nonsense_Mutation	SNP	G	G	C			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr1:173523928G>C	ENST00000367714.3	-	11	1663	c.1241C>G	c.(1240-1242)tCa>tGa	p.S414*	SLC9C2_ENST00000466087.1_Intron|SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.S312*	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	414					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGTCAATAATGATATTACTTG	0.308000													29	98					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160321960	160321960	+	Silent	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr1:160321960C>T	ENST00000368063.1	+	9	1180	c.900C>T	c.(898-900)acC>acT	p.T300T	NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000294785.5_Silent_p.T320T|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Silent_p.T300T|NCSTN_ENST00000368065.4_Silent_p.T62T			Q92542	NICA_HUMAN	nicastrin	320					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGTGACCACCCTGCCCCGCA	0.537000													22	103					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11454334	11454334	+	Splice_Site	SNP	C	C	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr11:11454334C>A	ENST00000227756.4	-	3	840	c.428_splice	c.e3-1	p.G143_splice		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		GGTTACGGCACCTGCAAAGAA	0.562000													5	27					3.59834e-05	3.7619e-05	1	1	0
RHOJ	57381	broad.mit.edu	37	14	63735878	63735878	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr14:63735878G>A	ENST00000316754.3	+	2	691	c.229G>A	c.(229-231)Gcg>Acg	p.A77T	RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Missense_Mutation_p.A77T	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	77					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GTATGACACCGCGGGACAGGT	0.458000													21	90					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118960748	118960748	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr10:118960748G>C	ENST00000334549.1	+	2	302	c.302G>C	c.(301-303)tGg>tCg	p.W101S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	101						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ACCACACACTGGTCCTTCCTG	0.552000													49	92					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86676333	86676333	+	Silent	SNP	A	A	C			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr5:86676333A>C	ENST00000456692.2	+	20	2195	c.2080A>C	c.(2080-2082)Aga>Cga	p.R694R	RASA1_ENST00000512763.1_Silent_p.R704R|RASA1_ENST00000274376.6_Silent_p.R871R|RASA1_ENST00000506290.1_Silent_p.R705R	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	871					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CAGGACATTGAGATATATTTA	0.368000													16	215					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115303726	115303726	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chrX:115303726G>A	ENST00000371906.4	+	3	383	c.193G>A	c.(193-195)Gtg>Atg	p.V65M		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	65					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CAATATTGTCGTGGTTACACT	0.363000													5	199					0	0	1	0	0
FAM50A	9130	broad.mit.edu	37	X	153677103	153677103	+	Splice_Site	SNP	G	G	C			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chrX:153677103G>C	ENST00000393600.3	+	6	695	c.586_splice	c.e6+1	p.K195_splice		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	195					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGAAGATCAAGAGTGAGTGTT	0.637000													5	98					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48705146	48705146	+	Silent	SNP	C	C	T	rs149155093	byFrequency	TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr1:48705146C>T	ENST00000236495.5	+	13	1739	c.1689C>T	c.(1687-1689)tgC>tgT	p.C563C	SLC5A9_ENST00000438567.2_Silent_p.C538C|SLC5A9_ENST00000533824.1_Silent_p.C559C	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	538						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCCTCCTCTGCGGGCTCACTG	0.562000													49	164					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118495660	118495660	+	Silent	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr11:118495660G>A	ENST00000361417.2	+	6	777	c.366G>A	c.(364-366)ttG>ttA	p.L122L	PHLDB1_ENST00000356063.5_Silent_p.L122L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	122	FHA.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCTGCATGTTGTGCCTGGGTC	0.577000													45	96					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86676332	86676332	+	Silent	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr5:86676332G>A	ENST00000456692.2	+	20	2194	c.2079G>A	c.(2077-2079)ttG>ttA	p.L693L	RASA1_ENST00000512763.1_Silent_p.L703L|RASA1_ENST00000274376.6_Silent_p.L870L|RASA1_ENST00000506290.1_Silent_p.L704L	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	870					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCAGGACATTGAGATATATTT	0.373000													16	216					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30653858	30653858	+	Silent	SNP	A	A	C			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr10:30653858A>C	ENST00000358107.4	-	2	323	c.324T>G	c.(322-324)ggT>ggG	p.G108G	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						cacccaccccacccccacccc	0.642000													4	7					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47968954	47968954	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr7:47968954G>A	ENST00000289672.2	-	7	957	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	303					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						GGAGGTGCCCGAGCTTCCACT	0.507000													146	156					0	0	1	0	0
GADD45A	1647	broad.mit.edu	37	1	68152224	68152224	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr1:68152224G>T	ENST00000370986.4	+	3	772	c.338G>T	c.(337-339)aGc>aTc	p.S113I	GADD45A_ENST00000370985.3_Missense_Mutation_p.S79I|GADD45A_ENST00000460575.1_3'UTR	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	113					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding			lung(2)|ovary(2)	4						CCCGCGGCGAGCGAGGGCGCC	0.697000													21	35					4.96729e-08	5.44037e-08	1	1	0
PCLO	27445	broad.mit.edu	37	7	82579847	82579847	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr7:82579847C>T	ENST00000423517.2	-	6	10394	c.10057G>A	c.(10057-10059)Gaa>Aaa	p.E3353K	PCLO_ENST00000437081.1_Missense_Mutation_p.E73K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3353K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3284					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTGCATCTTCAGTTGCCCAA	0.473000													6	43					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30701962	30701962	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr21:30701962G>A	ENST00000399921.1	+	4	1967	c.1724G>A	c.(1723-1725)cGc>cAc	p.R575H	BACH1_ENST00000286800.3_Missense_Mutation_p.R575H	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	575						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CAGCGCTGTCGCAAGAGAAAA	0.368000													8	19					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592957	125592957	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr4:125592957T>C	ENST00000504087.1	-	4	2512	c.1475A>G	c.(1474-1476)aAg>aGg	p.K492R	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K313R	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	492										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCTTGTTCCTTGGGTATCAA	0.428000													6	103					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241700696	241700696	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr2:241700696C>T	ENST00000498729.2	-	24	2461	c.2215G>A	c.(2215-2217)Gcc>Acc	p.A739T	KIF1A_ENST00000320389.7_Missense_Mutation_p.A730T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	730					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGGAAGATGGCGTTGCCCCAC	0.597000													31	109					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12028632	12028632	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr17:12028632G>A	ENST00000415385.3	+	9	921	c.868G>A	c.(868-870)Gca>Aca	p.A290T	MAP2K4_ENST00000353533.5_Missense_Mutation_p.A279T			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	279	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(3)|p.A279T(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AGACCCAAGCGCATCACGACA	0.428000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								19	41					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130843825	130843825	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr5:130843825G>A	ENST00000509018.1	-	9	1086	c.881C>T	c.(880-882)tCa>tTa	p.S294L	FNIP1_ENST00000514667.1_Missense_Mutation_p.S344L|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.S9L|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S294L|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S294L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S294L|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S294L|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S294L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	294					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATCATCACTGAGCAGAGTTC	0.378000													5	179					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326988	85326988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr15:85326988C>A	ENST00000299927.3	+	1	1104	c.1082C>A	c.(1081-1083)tCa>tAa	p.S361*	ZNF592_ENST00000560079.2_Nonsense_Mutation_p.S361*			Q92610	ZN592_HUMAN	zinc finger protein 592	361					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCAAAGGCTCACCGTCTGTG	0.527000													16	71					6.94344e-10	7.69635e-10	1	1	0
ANKRD12	23253	broad.mit.edu	37	18	9258230	9258230	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr18:9258230G>A	ENST00000383440.2	+	8	5153	c.4896G>A	c.(4894-4896)atG>atA	p.M1632I	ANKRD12_ENST00000400020.3_Missense_Mutation_p.M1632I|ANKRD12_ENST00000262126.3_Missense_Mutation_p.M1655I	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1655						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TATGTGAAATGAATGCAGGGA	0.363000													8	27					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98943317	98943317	+	Silent	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr8:98943317C>T	ENST00000254898.5	+	3	510	c.279C>T	c.(277-279)gtC>gtT	p.V93V	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Silent_p.V93V|MATN2_ENST00000520016.1_Silent_p.V93V|MATN2_ENST00000521689.1_Silent_p.V93V	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	93	VWFA 1.					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)			GTCCTGATGTCACCCGAGTGG	0.507000													17	174					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129951897	129951897	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr7:129951897C>T	ENST00000222482.4	+	10	1041	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	CPA4_ENST00000445470.2_Missense_Mutation_p.A305V|CPA4_ENST00000493259.1_Missense_Mutation_p.A234V	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	338					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GCGAGGCTTGCGGCCAAAGCT	0.522000													14	31					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545614	179545614	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr5:179545614C>T	ENST00000393371.2	-	9	1374	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.E209K|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.E360K			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	360	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTACCTTCTCTCGGCTGCTG	0.667000													21	80					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536868	146536868	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr7:146536868C>T	ENST00000361727.3	+	3	790	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	92	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTTGGCAATCGGAAGCAGAT	0.502000										HNSCC(39;0.1)			22	56					0	0	1	0	0
TTYH1	57348	broad.mit.edu	37	19	54930400	54930400	+	Silent	SNP	C	C	T	rs144710284	byFrequency	TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr19:54930400C>T	ENST00000301194.4	+	2	347	c.225C>T	c.(223-225)ccC>ccT	p.P75P	TTYH1_ENST00000376531.3_Silent_p.P75P|TTYH1_ENST00000376530.3_Silent_p.P75P|TTYH1_ENST00000391739.3_Silent_p.P124P			Q9H313	TTYH1_HUMAN	tweety family member 1	75					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GCCGGCCCCCCGAGCCCCCCG	0.692000													5	63					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382833	68382833	+	Silent	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chrX:68382833C>T	ENST00000361478.1	-	2	626	c.249G>A	c.(247-249)gaG>gaA	p.E83E	PJA1_ENST00000374571.4_Silent_p.E28E|PJA1_ENST00000374583.1_Silent_p.E83E|PJA1_ENST00000374584.3_Silent_p.E83E|PJA1_ENST00000477231.1_5'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	83							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCCCGAACTCTCGCTGTCGT	0.522000													45	94					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7188247	7188247	+	Missense_Mutation	SNP	A	A	C			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr17:7188247A>C	ENST00000317370.8	+	8	1277	c.1009A>C	c.(1009-1011)Acc>Ccc	p.T337P	SLC2A4_ENST00000424875.2_Missense_Mutation_p.T327P|SLC2A4_ENST00000571308.1_Missense_Mutation_p.T337P	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	337					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CACAGTCTTCACCTTGGTCTC	0.582000													8	74					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51201108	51201108	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr19:51201108C>T	ENST00000293441.1	-	12	1871	c.1853G>A	c.(1852-1854)aGc>aAc	p.S618N	SHANK1_ENST00000359082.3_Missense_Mutation_p.S618N|SHANK1_ENST00000391814.1_Missense_Mutation_p.S618N	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	618					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTTGCTTGCTCTCCTGAGA	0.577000													3	18					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111102677	111102677	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr13:111102677G>T	ENST00000360467.5	+	20	1521	c.1215G>T	c.(1213-1215)gaG>gaT	p.E405D		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	405	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCCGGGTGAGATGGGACCCA	0.637000													14	75					4.3838e-07	4.68965e-07	1	1	0
STON1	11037	broad.mit.edu	37	2	48809093	48809093	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr2:48809093C>G	ENST00000309835.3	+	1	1331	c.1321C>G	c.(1321-1323)Caa>Gaa	p.Q441E	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.Q441E|STON1_ENST00000406226.1_Missense_Mutation_p.Q441E|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.Q441E|STON1_ENST00000404752.1_Missense_Mutation_p.Q441E|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.Q441E|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.Q441E|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.Q441E					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTGATAACTCAAATTTATTG	0.383000													36	129					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090640	9090640	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr19:9090640C>T	ENST00000397910.4	-	1	1378	c.1175G>A	c.(1174-1176)aGt>aAt	p.S392N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	392	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						GGTACCTGGACTTCCCAACCA	0.522000													15	42					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84367236	84367236	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr4:84367236G>A	ENST00000295488.3	-	5	1558	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y	HELQ_ENST00000510985.1_Missense_Mutation_p.H399Y	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	466	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCAATCATGTGCAACTTCGAG	0.333000								Other identified genes with known or suspected DNA repair function					19	61					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47450506	47450506	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr3:47450506G>A	ENST00000265562.4	+	16	1648	c.1571G>A	c.(1570-1572)gGc>gAc	p.G524D	PTPN23_ENST00000431726.1_Missense_Mutation_p.G398D	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	524					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGCACGTCGGCAACCTGCGC	0.652000													4	166					0	0	1	0	0
ATL3	25923	broad.mit.edu	37	11	63419431	63419431	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr11:63419431C>T	ENST00000398868.3	-	5	814	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ATL3_ENST00000332645.4_Missense_Mutation_p.E207K|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Missense_Mutation_p.E162K	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	180					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AGATCATCTTCTTGAATGTTC	0.289000													12	26					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854346	12854346	+	Silent	SNP	G	G	A	rs141935528		TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr1:12854346G>A	ENST00000332296.7	+	3	673	c.570G>A	c.(568-570)acG>acA	p.T190T		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	190										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTATCTAACGCCGATTAAAT	0.408000													100	423					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648757	57648757	+	Silent	SNP	A	A	C			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr12:57648757A>C	ENST00000402412.1	-	24	3162	c.2772T>G	c.(2770-2772)ggT>ggG	p.G924G	R3HDM2_ENST00000403821.2_Silent_p.G944G|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Silent_p.G605G|R3HDM2_ENST00000393811.2_Silent_p.G637G|R3HDM2_ENST00000358907.2_Silent_p.G910G|R3HDM2_ENST00000347140.3_Silent_p.G910G|R3HDM2_ENST00000413953.2_Intron			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	910						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGTCCCCCCCACCCCCTCCAG	0.632000													10	73					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118779161	118779161	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr11:118779161G>A	ENST00000334801.3	-	2	1194	c.230C>T	c.(229-231)gCg>gTg	p.A77V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	77					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGGTTCCCCGCCCCCACGCC	0.612000													28	103					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	333009	333009	+	Nonsense_Mutation	SNP	G	G	A	rs147318026	byFrequency	TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr18:333009G>A	ENST00000400256.3	-	7	2158	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	651	C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGGCATACCTGTTCCTCTCTA	0.368000													20	49					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43768425	43768425	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr2:43768425G>A	ENST00000405006.4	-	21	3488	c.3137C>T	c.(3136-3138)gCg>gTg	p.A1046V	THADA_ENST00000415080.2_Missense_Mutation_p.A756V|THADA_ENST00000405975.2_Missense_Mutation_p.A1046V|THADA_ENST00000330266.7_Missense_Mutation_p.A756V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1046							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CACCATCTGCGCAGTTACATC	0.398000													7	247					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88296948	88296948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr8:88296948C>T	ENST00000518476.1	+	7	865	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	272										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGTTATGCCTCAGAATGAATC	0.388000													3	4					0	0	1	0	0
LCE2A	353139	broad.mit.edu	37	1	152671463	152671463	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr1:152671463G>A	ENST00000368779.1	+	2	137	c.86G>A	c.(85-87)cGa>cAa	p.R29Q		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	29	Cys-rich.				keratinization					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)			CCAAAGTGCCGACCTCAGTGC	0.637000													12	169					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133072369	133072369	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr6:133072369C>G	ENST00000326499.6	-	5	1239	c.1115G>C	c.(1114-1116)aGa>aCa	p.R372T	VNN2_ENST00000525270.1_Missense_Mutation_p.R319T|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	372					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTGTAACATTCTGTAGCTTAA	0.388000													25	57					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	620334	620334	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr5:620334C>T	ENST00000264935.5	+	3	451	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	CEP72_ENST00000444221.1_Missense_Mutation_p.R121C	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	121	LRRCT.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GCCTGACTACCGCCTTTTTGT	0.602000													21	108					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													6	8	---	---	---	---					
LOC101929147	101929147	broad.mit.edu	37	1	119801744	119801744	+	RNA	DEL	C	C	-			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr1:119801744delC	ENST00000418015.1	+	0	430				snoU13_ENST00000459311.1_RNA																							cttgttacatcagcacattat	0.358													2	4	---	---	---	---					
AIM1	202	broad.mit.edu	37	6	106967789	106967789	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr6:106967789delA	ENST00000369066.3	+	2	1969	c.1482delA	c.(1480-1482)ctfs	p.L494fs		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	494							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCACTGATCTAAAAGTGTCAG	0.463													36	61	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													12	88	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438		TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaa>aa	p.KELREA745del	EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del|EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	745	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			32	89	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113347573	113347574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr8:113347573_113347574insA	ENST00000297405.5	-	45	7393_7394	c.7149_7150insT	c.(7147-7152)tttgctfs	p.A2384fs	CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.A2280fs|CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.A2314fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.A2344fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2384	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAACTGAGCACAAAAAAGCCAC	0.351										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	60	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8287-8292)caagca>caCAGagca	p.2763_2763Q>HR	EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													13	78	---	---	---	---					
LOC101926911	101926911	broad.mit.edu	37	15	91577284	91577284	+	RNA	DEL	G	G	-			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr15:91577284delG	ENST00000557804.1	+	0	465																											TGGTGATTCTGGGAGAGCGCG	0.647													2	4	---	---	---	---					
SAMD14	201191	broad.mit.edu	37	17	48190283	48190284	+	Frame_Shift_Ins	INS	-	-	GCGCCGGAGCTTC			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr17:48190283_48190284insGCGCCGGAGCTTC	ENST00000330175.4	-	10	1544_1545	c.1227_1228insGAAGCTCCGGCGC	c.(1225-1230)cggagafs	p.R410fs	SAMD14_ENST00000503131.1_Frame_Shift_Ins_p.R438fs	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	410										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TCCTGCTCTCGGCGCCGGAGCT	0.698													21	108	---	---	---	---					
NANOS3	342977	broad.mit.edu	37	19	13988559	13988561	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-97-8547-01A-11D-2393-08	TCGA-97-8547-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af407765-5f62-4e41-877d-43f2ee3b7b52	9f7fa431-82bf-43de-9686-8a219762c5d2	g.chr19:13988559_13988561delGAG	ENST00000397555.2	+	2	440_442	c.440_442delGAG	c.(439-444)cga>c	p.RG147del	NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	147					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGAGG	0.645													2	4	---	---	---	---