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
PSD2	84249	broad.mit.edu	37	5	139193133	139193133	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr5:139193133C>T	ENST00000274710.3	+	3	816	c.611C>T	c.(610-612)gCg>gTg	p.A204V		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	204					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGACATGGCGTTTGAGGGG	0.687000													28	33					0	0	0.009535	0	0
CCDC88C	440193	broad.mit.edu	37	14	91772124	91772124	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr14:91772124C>A	ENST00000389857.6	-	19	3428	c.3342G>T	c.(3340-3342)caG>caT	p.Q1114H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1114					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTTGGCGGTCTGGGTCTGCA	0.597000													6	24					0.00116845	0.00230488	0.021553	1	0
JPH3	57338	broad.mit.edu	37	16	87677922	87677922	+	Missense_Mutation	SNP	C	C	G	rs140115944	byFrequency	TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr16:87677922C>G	ENST00000284262.2	+	2	683	c.441C>G	c.(439-441)agC>agG	p.S147R		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	147					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TCCGGCAGAGCGTCCCGTATG	0.677000													26	46					0	0	0.018920	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													8	56					0	0	0.010729	0	0
UBBP4	23666	broad.mit.edu	37	17	21730899	21730899	+	Silent	SNP	G	G	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr17:21730899G>C	ENST00000584755.1	+	2	598	c.201G>C	c.(199-201)ctG>ctC	p.L67L	UBBP4_ENST00000578713.1_Silent_p.L67L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGTCGACCCTGCATCTGGTCC	0.557000													16	42					0	0	0.024245	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72434362	72434362	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr10:72434362A>T	ENST00000373208.1	+	2	133	c.133A>T	c.(133-135)Agc>Tgc	p.S45C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.S45C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	45					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGTGCCCTGCAGCACAGACTT	0.567000													29	45					0	0	0.008361	0	0
SPTBN5	51332	broad.mit.edu	37	15	42168845	42168845	+	Splice_Site	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr15:42168845C>A	ENST00000320955.6	-	20	4079	c.3851_splice	c.e20-1	p.T1284_splice		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1284					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTCTCTGACCCTGGAGGGCG	0.677000													7	3					0.00307968	0.00595267	0.003080	1	0
PCDH17	27253	broad.mit.edu	37	13	58209093	58209093	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr13:58209093C>A	ENST00000377918.3	+	1	2439	c.2413C>A	c.(2413-2415)Ccc>Acc	p.P805T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	805					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACCCGCCTGCCCCTCAGCTC	0.642000													4	11					3.59834e-05	7.45555e-05	0.021553	1	0
CHST3	9469	broad.mit.edu	37	10	73767095	73767095	+	Silent	SNP	C	C	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr10:73767095C>T	ENST00000373115.4	+	3	743	c.306C>T	c.(304-306)ggC>ggT	p.G102G		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	102					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						TGCAGCTGGGCGTGGAGCCAG	0.652000													7	3					0	0	0.001984	0	0
ZNF536	9745	broad.mit.edu	37	19	31025796	31025796	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:31025796C>A	ENST00000355537.3	+	3	2360	c.2213C>A	c.(2212-2214)cCa>cAa	p.P738Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTCCAGCAACCAGCGCTGCTT	0.577000													48	91					2.24722e-20	6.10565e-20	0.014410	1	0
FAM86DP	692099	broad.mit.edu	37	3	75475639	75475639	+	RNA	SNP	T	T	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr3:75475639T>C	ENST00000459803.1	-	0	890					NR_024241.1													p.H284R(1)									CTCTGGGTTGTGGACGGTAAA	0.662000													4	82					0	0	0.014758	0	0
BRAF	673	broad.mit.edu	37	7	140481403	140481403	+	Nonsense_Mutation	SNP	C	C	A	rs121913358		TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr7:140481403C>A	ENST00000288602.6	-	11	1465	c.1405G>T	c.(1405-1407)Gga>Tga	p.G469*		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469R(6)|p.G469S(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TAGACTGTTCCAAATGATCCA	0.373000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				31	58					2.68265e-12	6.33281e-12	0.013726	1	0
IFNAR1	3454	broad.mit.edu	37	21	34721527	34721527	+	Missense_Mutation	SNP	G	G	A	rs17875833	byFrequency	TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr21:34721527G>A	ENST00000270139.3	+	7	1071	c.919G>A	c.(919-921)Gta>Ata	p.V307I	IFNAR1_ENST00000442357.2_Missense_Mutation_p.V307I|IFNAR1_ENST00000416947.2_Missense_Mutation_p.V238I	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	307	Fibronectin type-III 2.		V -> I (in dbSNP:rs17875833).		JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CCTTCTCCGCGTACAAGCATC	0.348000													29	72					0	0	0.007291	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678501	37678501	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr13:37678501C>A	ENST00000379800.3	-	1	1302	c.893G>T	c.(892-894)tGg>tTg	p.W298L		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	298					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TAACATCGTCCAATCAAATGT	0.498000													37	86					2.19358e-23	6.31751e-23	0.023175	1	0
MYOCD	93649	broad.mit.edu	37	17	12656348	12656348	+	Silent	SNP	T	T	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr17:12656348T>C	ENST00000425538.1	+	10	1943	c.1743T>C	c.(1741-1743)ttT>ttC	p.F581F	MYOCD_ENST00000395988.1_Silent_p.F485F|MYOCD_ENST00000343344.4_Silent_p.F581F	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	581					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCTGTCCTTTTGCATCCCAAG	0.512000													29	57					0	0	0.007291	0	0
KCNK16	83795	broad.mit.edu	37	6	39284685	39284685	+	Silent	SNP	C	C	G			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr6:39284685C>G	ENST00000425054.2	-	4	533	c.534G>C	c.(532-534)ctG>ctC	p.L178L	KCNK16_ENST00000507712.1_Silent_p.L113L|KCNK16_ENST00000437525.2_Silent_p.L178L|KCNK16_ENST00000373229.5_Silent_p.L178L|KCNK16_ENST00000373227.4_Silent_p.L178L	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	178						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCAGCGTCCCCAGGGTCAGGA	0.557000													32	105					0	0	0.012213	0	0
RYR1	6261	broad.mit.edu	37	19	38960061	38960061	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:38960061T>C	ENST00000355481.4	+	27	3804	c.3673T>C	c.(3673-3675)Ttt>Ctt	p.F1225L	RYR1_ENST00000359596.3_Missense_Mutation_p.F1225L|RYR1_ENST00000360985.3_Missense_Mutation_p.F1225L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1225	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTTCGAGCCATTTGCCATCAA	0.587000													46	89					0	0	0.014410	0	0
NFIX	4784	broad.mit.edu	37	19	13136190	13136190	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:13136190G>T	ENST00000358552.3	+	1	380	c.380G>T	c.(379-381)cGg>cTg	p.R127L	NFIX_ENST00000397661.2_Missense_Mutation_p.R128L|NFIX_ENST00000592199.1_Missense_Mutation_p.R128L|NFIX_ENST00000587760.1_Missense_Mutation_p.R120L|NFIX_ENST00000585575.1_Missense_Mutation_p.R120L|NFIX_ENST00000587260.1_Missense_Mutation_p.R127L|NFIX_ENST00000360105.4_Missense_Mutation_p.R131L|NFIX_ENST00000588228.1_Missense_Mutation_p.R81L			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	128					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			AAGGTGTGGCGGCTGGACCTG	0.617000													18	10					0.00229938	0.00447446	0.014323	1	0
OR2W5	441932	broad.mit.edu	37	1	247654619	247654619	+	RNA	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:247654619G>A	ENST00000522351.1	+	0	250							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTCTTTCTTGGGAATCTGTC	0.522000													46	31					0	0	0.013114	0	0
DNAH3	55567	broad.mit.edu	37	16	20952726	20952726	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr16:20952726T>C	ENST00000261383.3	-	59	11650	c.11651A>G	c.(11650-11652)aAc>aGc	p.N3884S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3884					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCCCACCTGTTGAATCTGAT	0.498000													146	295					0	0	0.014410	0	0
TUBB3	10381	broad.mit.edu	37	16	90001774	90001774	+	Silent	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr16:90001774G>T	ENST00000304984.5	+	3	2994	c.699G>T	c.(697-699)ccG>ccT	p.P233P	TUBB3_ENST00000556922.1_Silent_p.P652P|TUBB3_ENST00000554444.1_Silent_p.P233P|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Silent_p.P305P			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	305					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCTGCGACCCGCGCCACGGCC	0.667000													33	69					4.65686e-17	1.17647e-16	0.017118	1	0
NCEH1	57552	broad.mit.edu	37	3	172353764	172353764	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr3:172353764C>A	ENST00000475381.1	-	4	784	c.551G>T	c.(550-552)aGa>aTa	p.R184I	NCEH1_ENST00000543711.1_Missense_Mutation_p.R51I|NCEH1_ENST00000538775.1_Missense_Mutation_p.R224I|NCEH1_ENST00000273512.3_Missense_Mutation_p.R216I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	184					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AATGCAAATTCTGCCTGGATC	0.468000													40	91					4.67007e-22	1.31861e-21	0.008740	1	0
SDR16C5	195814	broad.mit.edu	37	8	57228804	57228804	+	Missense_Mutation	SNP	G	G	A	rs116944947	by1000genomes	TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr8:57228804G>A	ENST00000396721.2	-	2	233	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	SDR16C5_ENST00000303749.3_Missense_Mutation_p.R35W|SDR16C5_ENST00000522671.1_Missense_Mutation_p.R35W			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	35					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ACGTTCTTCCGTGGCTTTGGG	0.458000													24	46					0	0	0.021523	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163446	163446	+	Missense_Mutation	SNP	G	G	A	rs143360196		TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr5:163446G>A	ENST00000283426.6	+	11	2241	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	731					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCAAAGTTTCGAGATACCTCA	0.572000													74	99					0	0	0.014410	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392612	22392612	+	RNA	SNP	T	T	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr14:22392612T>C	ENST00000390440.2	+	0	210																											ACTGCACATATGACACCAGTG	0.448000													31	52					0	0	0.015359	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615600	140615600	+	RNA	SNP	C	C	G			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr5:140615600C>G	ENST00000526308.1	+	0	1663					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CTCGCTGCTGCCGCCCCAGGA	0.652000													58	223					0	0	0.014410	0	0
OR51B2	79345	broad.mit.edu	37	11	5344806	5344806	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr11:5344806G>C	ENST00000328813.2	-	1	776	c.722C>G	c.(721-723)tCc>tGc	p.S241C	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTAATGTGGGAGATACAGGT	0.398000													23	45					0	0	0.012319	0	0
OR2D3	120775	broad.mit.edu	37	11	6942250	6942250	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr11:6942250G>T	ENST00000317834.3	+	1	46	c.18G>T	c.(16-18)ttG>ttT	p.L6F		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTTTTTCTTGTGCCAAACAG	0.398000													22	42					7.88262e-20	2.12168e-19	0.018920	1	0
HARS2	23438	broad.mit.edu	37	5	140076937	140076937	+	Silent	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr5:140076937G>T	ENST00000230771.3	+	10	1366	c.1143G>T	c.(1141-1143)gtG>gtT	p.V381V	HARS2_ENST00000508522.1_Silent_p.V356V|HARS2_ENST00000435019.2_Silent_p.V341V|HARS2_ENST00000437649.2_Silent_p.V307V|HARS2_ENST00000448069.2_Silent_p.V209V|HARS2_ENST00000432671.2_Silent_p.V267V	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	381					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCATGTGTGGGACTCAGCA	0.577000													12	61					3.07112e-06	6.55172e-06	0.010729	1	0
ARHGAP15	55843	broad.mit.edu	37	2	144245031	144245031	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr2:144245031C>G	ENST00000295095.6	+	9	960	c.793C>G	c.(793-795)Ctg>Gtg	p.L265V	RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	265					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAGACCTTCCCTGAAAACTCT	0.358000													95	76					0	0	0.014410	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	A	rs121913358		TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr7:140481402C>A	ENST00000288602.6	-	11	1466	c.1406G>T	c.(1405-1407)gGa>gTa	p.G469V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				32	59					1.26612e-14	3.14346e-14	0.015359	1	0
CSMD3	114788	broad.mit.edu	37	8	113314030	113314030	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr8:113314030C>G	ENST00000297405.5	-	53	8676	c.8432G>C	c.(8431-8433)aGa>aCa	p.R2811T	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2642T|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2741T|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2771T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2811	Sushi 17.					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						ACCTAGGCATCTGGTTTCAGA	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	38					0	0	0.010504	0	0
FBF1	85302	broad.mit.edu	37	17	73915810	73915810	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr17:73915810G>A	ENST00000586717.1	-	19	2308	c.2035C>T	c.(2035-2037)Cgc>Tgc	p.R679C	FBF1_ENST00000389570.4_Missense_Mutation_p.R679C|FBF1_ENST00000319129.5_Missense_Mutation_p.R678C			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	678										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GCCGCCAAGCGCCGCTGGTGC	0.672000													25	16					0	0	0.018920	0	0
TIMD4	91937	broad.mit.edu	37	5	156375427	156375427	+	Splice_Site	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr5:156375427C>A	ENST00000274532.2	-	5	900	c.844_splice	c.e5+1	p.A282_splice	TIMD4_ENST00000407087.3_Intron	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	282						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCCCCCTACCTCCAGGCTGA	0.338000													19	17					1.56452e-12	3.72383e-12	0.007413	1	0
CNTN2	6900	broad.mit.edu	37	1	205031637	205031637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:205031637C>T	ENST00000331830.4	+	10	1464	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	394	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGGCATGTACCAGTGTGTGGC	0.622000													19	91					0	0	0.008871	0	0
SMAD3	4088	broad.mit.edu	37	15	67473668	67473668	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr15:67473668G>T	ENST00000327367.4	+	6	1058	c.748G>T	c.(748-750)Gcc>Tcc	p.A250S	SMAD3_ENST00000439724.3_Missense_Mutation_p.A206S|SMAD3_ENST00000540846.2_Missense_Mutation_p.A145S|SMAD3_ENST00000537194.2_Missense_Mutation_p.A55S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	250	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GACATTCCACGCCTCGCAGCC	0.592000													13	27					5.50884e-06	1.16658e-05	0.013537	1	0
IFT172	26160	broad.mit.edu	37	2	27700939	27700939	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr2:27700939C>T	ENST00000260570.3	-	11	1193	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	IFT172_ENST00000359466.6_Missense_Mutation_p.G364R|IFT172_ENST00000416524.2_Missense_Mutation_p.G343R	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	364					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CGTTCCTTTCCTAGGATTTTC	0.483000													77	196					0	0	0.014410	0	0
OR10K1	391109	broad.mit.edu	37	1	158436014	158436014	+	Silent	SNP	C	C	A	rs151132888	by1000genomes	TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:158436014C>A	ENST00000289451.2	+	1	743	c.663C>A	c.(661-663)atC>atA	p.I221I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACATCCGCATCATCTCTGCCA	0.473000													45	140					1.61572e-30	4.8982e-30	0.010771	1	0
PCDH10	57575	broad.mit.edu	37	4	134071419	134071419	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr4:134071419G>T	ENST00000264360.4	+	1	950	c.124G>T	c.(124-126)Ggt>Tgt	p.G42C		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	42	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGAAGATCTGGGTCTGGACAT	0.532000													33	83					1.99505e-19	5.27133e-19	0.012213	1	0
ZNF479	90827	broad.mit.edu	37	7	57200007	57200007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr7:57200007C>A	ENST00000331162.4	-	2	295	c.25G>T	c.(25-27)Gga>Tga	p.G9*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCGGCTTCCAGGGGGTCCT	0.547000													23	42					1.17739e-12	2.82574e-12	0.027356	1	0
ATP10D	57205	broad.mit.edu	37	4	47514700	47514700	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr4:47514700G>T	ENST00000273859.3	+	2	412	c.143G>T	c.(142-144)gGa>gTa	p.G48V	ATP10D_ENST00000504445.1_Missense_Mutation_p.G48V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	48					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAACTGTCAGGAAGGCACCGG	0.507000													28	42					1.32181e-22	3.76912e-22	0.007291	1	0
FRMD4A	55691	broad.mit.edu	37	10	13735983	13735983	+	Silent	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr10:13735983C>A	ENST00000357447.2	-	15	1400	c.1032G>T	c.(1030-1032)acG>acT	p.T344T	FRMD4A_ENST00000378503.1_Silent_p.T344T|FRMD4A_ENST00000342409.2_Silent_p.T360T|FRMD4A_ENST00000358621.4_Silent_p.T329T|FRMD4A_ENST00000492155.1_5'UTR	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	344						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCAGCGTCCCCGTCTCGGTCA	0.582000													34	34					7.04047e-22	1.94967e-21	0.023175	1	0
CLCA2	9635	broad.mit.edu	37	1	86913287	86913287	+	Missense_Mutation	SNP	C	C	G	rs146994587		TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:86913287C>G	ENST00000370565.4	+	11	1972	c.1810C>G	c.(1810-1812)Cca>Gca	p.P604A		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	604					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGCTGTGCCCCCAGCCACTGT	0.498000													47	67					0	0	0.014410	0	0
TSKS	60385	broad.mit.edu	37	19	50266500	50266500	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:50266500G>T	ENST00000246801.3	-	1	87	c.5C>A	c.(4-6)gCg>gAg	p.A2E		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	2							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACCACGCTCGCCATGGTGTG	0.632000													12	47					4.93089e-13	1.20347e-12	0.020292	1	0
USP21	27005	broad.mit.edu	37	1	161130689	161130689	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:161130689G>A	ENST00000368002.3	+	3	636	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	USP21_ENST00000289865.8_Missense_Mutation_p.G87R|USP21_ENST00000368001.1_Missense_Mutation_p.G87R	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	87					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCAGATCATGGGGTTCCCCT	0.637000													43	35					0	0	0.008740	0	0
OR4C15	81309	broad.mit.edu	37	11	55322011	55322011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr11:55322011G>T	ENST00000314644.2	+	1	229	c.229G>T	c.(229-231)Gaa>Taa	p.E77*		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAATGTTCAGGAAATAGTATT	0.418000										HNSCC(20;0.049)			58	88					3.21867e-24	9.55647e-24	0.014410	1	0
ABCC11	85320	broad.mit.edu	37	16	48234330	48234330	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr16:48234330C>T	ENST00000394747.1	-	14	2288	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	ABCC11_ENST00000394748.1_Missense_Mutation_p.A647T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A647T|ABCC11_ENST00000356608.2_Missense_Mutation_p.A647T|ABCC11_ENST00000537808.1_Missense_Mutation_p.A647T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	647	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A647T(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GAATAGACGGCGCGGGCCAGG	0.582000													13	28					0	0	0.013537	0	0
VN1R4	317703	broad.mit.edu	37	19	53770889	53770889	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:53770889C>A	ENST00000311170.4	-	1	83	c.30G>T	c.(28-30)atG>atT	p.M10I		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	10					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTGATAAGATCATTCCCACTG	0.517000										HNSCC(26;0.072)			21	53					1.66031e-10	3.85619e-10	0.021523	1	0
ADCY10	55811	broad.mit.edu	37	1	167874234	167874234	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:167874234A>C	ENST00000367851.4	-	2	329	c.145T>G	c.(145-147)Tca>Gca	p.S49A	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.S49A|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	49	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CACTTGCCTGAAATATCAACA	0.448000													15	92					0	0	0.007413	0	0
FCRL2	79368	broad.mit.edu	37	1	157740395	157740395	+	Silent	SNP	G	G	A	rs139205435		TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:157740395G>A	ENST00000361516.3	-	3	162	c.114C>T	c.(112-114)tgC>tgT	p.C38C	FCRL2_ENST00000392274.3_Silent_p.C38C|FCRL2_ENST00000368181.4_Silent_p.C38C	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	38	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTTCTCCCTGGCATTTCAGAA	0.438000													14	69					0	0	0.016723	0	0
TMEM150B	284417	broad.mit.edu	37	19	55831931	55831931	+	Silent	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:55831931G>A	ENST00000326652.4	-	4	305	c.123C>T	c.(121-123)taC>taT	p.Y41Y	TMEM150B_ENST00000438693.1_Silent_p.Y41Y			A6NC51	T150B_HUMAN	transmembrane protein 150B	41						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						ATTACCTGATGTAGGGAAAGC	0.537000													34	64					0	0	0.027894	0	0
CHD8	57680	broad.mit.edu	37	14	21899006	21899006	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr14:21899006C>A	ENST00000399982.2	-	1	861	c.797G>T	c.(796-798)gGg>gTg	p.G266V	CHD8_ENST00000557364.1_Missense_Mutation_p.G266V|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	266					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGTGGGGGCCCTGTGGCCCC	0.577000													5	17					0.00116845	0.00230488	0.021553	1	0
RBMS1	5937	broad.mit.edu	37	2	161137837	161137837	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr2:161137837A>C	ENST00000348849.3	-	10	1369	c.939T>G	c.(937-939)atT>atG	p.I313M	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.I277M|RBMS1_ENST00000409289.2_Missense_Mutation_p.I277M|RBMS1_ENST00000392753.3_Missense_Mutation_p.I326M|RBMS1_ENST00000409075.1_Missense_Mutation_p.I277M	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	313					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								GGTGCTGTAGAATATATGGTT	0.338000													55	64					0	0	0.014410	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456253	5456253	+	Missense_Mutation	SNP	G	G	C	rs113345491		TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:5456253G>C	ENST00000222033.4	+	1	828	c.751G>C	c.(751-753)Gtg>Ctg	p.V251L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	251						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGTCACCCCGTGCTGACCGT	0.682000													23	17					0	0	0.016522	0	0
ZNF277	11179	broad.mit.edu	37	7	111977846	111977846	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr7:111977846G>A	ENST00000361822.3	+	9	1060	c.931G>A	c.(931-933)Gca>Aca	p.A311T	AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	311						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TGAAAAGCAAGCAGAAACAAT	0.383000													22	62					0	0	0.018920	0	0
PSKH2	85481	broad.mit.edu	37	8	87060816	87060816	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr8:87060816A>T	ENST00000276616.2	-	3	1107	c.1033T>A	c.(1033-1035)Tct>Act	p.S345T		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	345							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GAGTGGGGAGAGGCCCTCTGC	0.517000													34	58					0	0	0.017118	0	0
NGF	4803	broad.mit.edu	37	1	115829120	115829120	+	Silent	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:115829120G>A	ENST00000369512.2	-	3	465	c.297C>T	c.(295-297)gaC>gaT	p.D99D	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	99					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GATCCTGAGTGTCTGCAGCTT	0.582000													11	25					0	0	0.013537	0	0
CSF2RA	1438	broad.mit.edu	37	X	1419396	1419396	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chrX:1419396G>T	ENST00000381524.3	+	10	1009	c.823G>T	c.(823-825)Ggt>Tgt	p.G275C	CSF2RA_ENST00000355432.3_Missense_Mutation_p.G275C|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G275C|CSF2RA_ENST00000501036.2_Missense_Mutation_p.G142C|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G275C|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G275C|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G275C|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G275C|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G275C|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	275						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TAATGTTTCTGGTGATTTGGA	0.403000													39	68					2.40579e-17	6.13158e-17	0.025465	1	0
KRT83	3889	broad.mit.edu	37	12	52710805	52710805	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr12:52710805C>A	ENST00000293670.3	-	5	815	c.753G>T	c.(751-753)gaG>gaT	p.E251D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	251	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GAATGCGGATCTCCTGCAGGA	0.532000													23	58					4.26978e-12	9.99753e-12	0.018920	1	0
RNPC3	55599	broad.mit.edu	37	1	104093592	104093592	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:104093592G>T	ENST00000533099.1	+	14	1627	c.1391G>T	c.(1390-1392)cGt>cTt	p.R464L	RNPC3_ENST00000423855.2_Missense_Mutation_p.R464L|RNPC3_ENST00000524631.1_Missense_Mutation_p.R463L			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	464	RRM 2.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		AAAGAAGGTCGTATGAAAGGA	0.353000													18	38					5.35267e-07	1.15907e-06	0.007413	1	0
MYH2	4620	broad.mit.edu	37	17	10427914	10427914	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr17:10427914G>T	ENST00000245503.5	-	35	5428	c.5044C>A	c.(5044-5046)Cgc>Agc	p.R1682S	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1682S|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1682					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGGCTCTGCGCTCCACCATG	0.567000													24	43					2.70639e-06	5.81673e-06	0.014323	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	44					0	0	0.014758	0	0
OR6K3	391114	broad.mit.edu	37	1	158687509	158687509	+	Missense_Mutation	SNP	G	G	T	rs144430951		TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:158687509G>T	ENST00000368146.1	-	1	444	c.445C>A	c.(445-447)Caa>Aaa	p.Q149K	OR6K3_ENST00000368145.1_Missense_Mutation_p.Q133K			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ATGATCATTTGATAGCGAAGA	0.498000													30	127					3.73988e-18	9.61684e-18	0.006320	1	0
IQGAP2	10788	broad.mit.edu	37	5	75858378	75858378	+	Splice_Site	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr5:75858378G>A	ENST00000274364.6	+	3	600		c.e3+1		IQGAP2_ENST00000379730.3_Splice_Site	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2						small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACGTTATAAGGTAACCAAGAT	0.383000													60	50					0	0	0.014410	0	0
CAMKK1	84254	broad.mit.edu	37	17	3788921	3788921	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr17:3788921C>A	ENST00000381771.2	-	2	208	c.61G>T	c.(61-63)Gca>Tca	p.A21S	CAMKK1_ENST00000348335.2_Missense_Mutation_p.A21S|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A21S|CAMKK1_ENST00000381769.2_Missense_Mutation_p.A48S			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	21					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCGATGGCTGCCACCCGTTCT	0.612000													12	31					0.00010058	0.00020544	0.013537	1	0
SLIT3	6586	broad.mit.edu	37	5	168096868	168096868	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr5:168096868T>C	ENST00000519560.1	-	35	4675	c.4256A>G	c.(4255-4257)cAt>cGt	p.H1419R	SLIT3_ENST00000332966.8_Missense_Mutation_p.H1426R|SLIT3_ENST00000404867.3_Missense_Mutation_p.H1419R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1419	EGF-like 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACTGCCCATGGTGACACTT	0.582000													15	42					0	0	0.028581	0	0
WDR7	23335	broad.mit.edu	37	18	54688052	54688052	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr18:54688052A>G	ENST00000254442.3	+	27	4452	c.4241A>G	c.(4240-4242)aAc>aGc	p.N1414S	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.N1381S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1414										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACCTACTCAAACACTGACAGC	0.428000													32	64					0	0	0.012213	0	0
COL21A1	81578	broad.mit.edu	37	6	55990417	55990417	+	Splice_Site	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr6:55990417C>A	ENST00000244728.5	-	14	1995	c.1596_splice	c.e14-1	p.G533_splice	COL21A1_ENST00000370819.1_Splice_Site_p.G530_splice|COL21A1_ENST00000535941.1_Splice_Site_p.G533_splice	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	533					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCCATTTCACCCTAAAAGAC	0.274000													7	13					1.12685e-05	2.36885e-05	0.004482	1	0
PSMD12	5718	broad.mit.edu	37	17	65337022	65337022	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr17:65337022C>T	ENST00000356126.3	-	11	1415	c.1308G>A	c.(1306-1308)atG>atA	p.M436I	PSMD12_ENST00000357146.4_Missense_Mutation_p.M416I	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	436					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TAACCAGAGACATTAATGAGT	0.343000													24	80					0	0	0.027356	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182996	140182996	+	Silent	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr5:140182996G>T	ENST00000522353.2	+	1	2214	c.2214G>T	c.(2212-2214)acG>acT	p.T738T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.T738T|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCCCACGCTGGTGTGCT	0.652000													39	131					3.09479e-21	8.48856e-21	0.027894	1	0
AIM2	9447	broad.mit.edu	37	1	159036024	159036024	+	Silent	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:159036024G>T	ENST00000368130.4	-	4	780	c.492C>A	c.(490-492)ccC>ccA	p.P164P	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	164	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CAAACGTGAAGGGCTTCTTTG	0.438000													114	82					2.5327e-61	7.8432e-61	0.014410	1	0
STAM	8027	broad.mit.edu	37	10	17746987	17746987	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr10:17746987G>T	ENST00000377524.3	+	11	1234	c.1019G>T	c.(1018-1020)gGa>gTa	p.G340V	STAM_ENST00000540523.1_Missense_Mutation_p.G229V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	340					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CACCAGATGGGACCTCTCATT	0.328000													29	80					1.99505e-19	5.27133e-19	0.012213	1	0
SORCS3	22986	broad.mit.edu	37	10	106974237	106974237	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr10:106974237C>G	ENST00000369701.3	+	18	2640	c.2413C>G	c.(2413-2415)Cta>Gta	p.L805V	SORCS3_ENST00000369699.4_Missense_Mutation_p.L91V	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	805						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CACAGATGGGCTAAGGGAGAA	0.537000													26	41					0	0	0.024334	0	0
SLC7A8	23428	broad.mit.edu	37	14	23598874	23598874	+	Silent	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr14:23598874G>A	ENST00000316902.7	-	9	1973	c.1248C>T	c.(1246-1248)atC>atT	p.I416I	SLC7A8_ENST00000422941.2_Silent_p.I192I|SLC7A8_ENST00000453702.1_Silent_p.I213I|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000529705.2_Silent_p.I311I	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	416					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TGGGGCGGGGGATATCAGGCT	0.493000													42	74					0	0	0.013114	0	0
GABRG3	2567	broad.mit.edu	37	15	27772650	27772650	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr15:27772650G>T	ENST00000333743.6	+	8	1191	c.937G>T	c.(937-939)Gtg>Ttg	p.V313L	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	313					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CGTGTCCTACGTGACCGCCAT	0.557000													21	35					1.22574e-08	2.73653e-08	0.014323	1	0
SMC4	10051	broad.mit.edu	37	3	160146643	160146643	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr3:160146643A>T	ENST00000357388.3	+	18	3159	c.2708A>T	c.(2707-2709)cAa>cTa	p.Q903L	SMC4_ENST00000360111.2_Missense_Mutation_p.Q903L|SMC4_ENST00000344722.5_Missense_Mutation_p.Q903L|SMC4_ENST00000462787.1_Missense_Mutation_p.Q903L|SMC4_ENST00000469762.1_Missense_Mutation_p.Q878L|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	903					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGGCCCAACAAGACAAACTT	0.373000													30	39					0	0	0.009535	0	0
EVC2	132884	broad.mit.edu	37	4	5696067	5696067	+	Missense_Mutation	SNP	G	G	T	rs148388393		TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr4:5696067G>T	ENST00000310917.2	-	3	936	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	EVC2_ENST00000344408.5_Missense_Mutation_p.R149S|EVC2_ENST00000344938.1_Missense_Mutation_p.R149S	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	149						integral to membrane		p.R149S(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTTACCAGGCGGTGTGTTATA	0.393000													22	48					7.41877e-09	1.68237e-08	0.012319	1	0
BTN2A2	10385	broad.mit.edu	37	6	26385353	26385353	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr6:26385353C>T	ENST00000356709.4	+	3	316	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R69W|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R69W|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R69W	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	69	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATGGAGGTGCGGTGGTTCCG	0.547000													23	81					0	0	0.016522	0	0
MUC16	94025	broad.mit.edu	37	19	9090468	9090468	+	Silent	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:9090468G>T	ENST00000397910.4	-	1	1550	c.1347C>A	c.(1345-1347)tcC>tcA	p.S449S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	449	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						CAGTCATTTCGGACTCTTCTC	0.488000													49	32					5.13769e-22	1.43656e-21	0.014410	1	0
NCR1	9437	broad.mit.edu	37	19	55417918	55417918	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:55417918T>A	ENST00000594765.1	+	3	133	c.108T>A	c.(106-108)caT>caA	p.H36Q	NCR1_ENST00000350790.5_Intron|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000338835.5_Missense_Mutation_p.H36Q|NCR1_ENST00000447255.1_Missense_Mutation_p.H36Q|NCR1_ENST00000291890.4_Missense_Mutation_p.H36Q|NCR1_ENST00000598576.1_Missense_Mutation_p.H24Q			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	36	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCGAGCCCCATTTCATGGTTC	0.547000													25	63					0	0	0.018920	0	0
MC2R	4158	broad.mit.edu	37	18	13885348	13885348	+	Missense_Mutation	SNP	G	G	T	rs140534585		TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr18:13885348G>T	ENST00000327606.3	-	2	350	c.170C>A	c.(169-171)gCa>gAa	p.A57E		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	57					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GTACATGGGTGCCTGGAGATT	0.418000													26	49					2.79863e-10	6.39687e-10	0.024334	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54905735	54905735	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr12:54905735G>A	ENST00000293373.6	+	9	866	c.787G>A	c.(787-789)Ggg>Agg	p.G263R	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.G213R|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	263					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACCTACAGTTGGGTTTCTTCT	0.463000													37	62					0	0	0.023175	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768808	31768808	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr21:31768808G>C	ENST00000355459.2	+	1	417	c.404G>C	c.(403-405)tGt>tCt	p.C135S		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	135						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATGGAGGCTGTGGCTTCCCT	0.577000													13	35					0	0	0.020292	0	0
ATAD2	29028	broad.mit.edu	37	8	124340444	124340444	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr8:124340444T>A	ENST00000287394.5	-	25	3961	c.3854A>T	c.(3853-3855)gAa>gTa	p.E1285V	ATAD2_ENST00000521903.1_Missense_Mutation_p.E603V	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTTCATTTTCATCAGAAAT	0.308000													12	21					0	0	0.010729	0	0
PDZD2	23037	broad.mit.edu	37	5	32059357	32059357	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr5:32059357G>A	ENST00000438447.1	+	13	2601	c.2213G>A	c.(2212-2214)gGa>gAa	p.G738E	PDZD2_ENST00000282493.3_Missense_Mutation_p.G738E			O15018	PDZD2_HUMAN	PDZ domain containing 2	738	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.G738V(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCAAGAGTTGGATTAGGCATT	0.418000													16	38					0	0	0.004990	0	0
OR5T2	219464	broad.mit.edu	37	11	55999867	55999867	+	Silent	SNP	C	C	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr11:55999867C>T	ENST00000313264.4	-	1	870	c.795G>A	c.(793-795)ctG>ctA	p.L265L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AATACATCTTCAGAATGGCCA	0.433000													49	85					0	0	0.014410	0	0
EVC2	132884	broad.mit.edu	37	4	5696066	5696066	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr4:5696066C>A	ENST00000310917.2	-	3	937	c.206G>T	c.(205-207)cGc>cTc	p.R69L	EVC2_ENST00000344408.5_Missense_Mutation_p.R149L|EVC2_ENST00000344938.1_Missense_Mutation_p.R149L	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	149						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACTTACCAGGCGGTGTGTTAT	0.393000													21	49					2.37509e-13	5.84638e-13	0.010504	1	0
TRRAP	8295	broad.mit.edu	37	7	98535407	98535407	+	Silent	SNP	A	A	G			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr7:98535407A>G	ENST00000359863.4	+	30	4577	c.4368A>G	c.(4366-4368)ccA>ccG	p.P1456P	TRRAP_ENST00000355540.3_Silent_p.P1456P|TRRAP_ENST00000446306.3_Silent_p.P1455P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1456					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTTCCCAAATTCCTTCA	0.383000													16	22					0	0	0.004990	0	0
IL11	3589	broad.mit.edu	37	19	55879690	55879690	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:55879690C>T	ENST00000264563.2	-	4	379	c.317G>A	c.(316-318)cGg>cAg	p.R106Q	IL11_ENST00000590625.1_Missense_Mutation_p.R27Q|IL11_ENST00000585513.1_Missense_Mutation_p.R106Q	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	interleukin 11	106					B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Oprelvekin(DB00038)	CTGCACGTGCCGCAGGTAGGA	0.687000													4	10					0	0	0.021553	0	0
SP100	6672	broad.mit.edu	37	2	231372747	231372747	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr2:231372747G>T	ENST00000409112.1	+	23	2084	c.2053G>T	c.(2053-2055)Gtg>Ttg	p.V685L	SP100_ENST00000340126.4_Splice_Site|SP100_ENST00000264052.5_Splice_Site	NM_001206701.1	NP_001193630.1	P23497	SP100_HUMAN	SP100 nuclear antigen	685					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAGAAAAAAGGTGATGATCAA	0.333000													32	44					1.60099e-16	4.00942e-16	0.021022	1	0
ATP10A	57194	broad.mit.edu	37	15	25924557	25924557	+	Silent	SNP	T	T	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr15:25924557T>C	ENST00000356865.6	-	21	4542	c.4431A>G	c.(4429-4431)tcA>tcG	p.S1477S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1477					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGATCGGCCTGAGTGGGGCT	0.532000													21	44					0	0	0.012319	0	0
GDPD2	54857	broad.mit.edu	37	X	69647191	69647191	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chrX:69647191G>C	ENST00000453994.2	+	10	1175	c.814G>C	c.(814-816)Gat>Cat	p.D272H	GDPD2_ENST00000374382.3_Missense_Mutation_p.D272H|GDPD2_ENST00000538649.1_Missense_Mutation_p.D193H|GDPD2_ENST00000536730.1_Missense_Mutation_p.D193H|GDPD2_ENST00000472623.1_3'UTR	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	272	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CCTCATGCATGATGAGCACCT	0.577000													10	7					0	0	0.006214	0	0
ITGAM	3684	broad.mit.edu	37	16	31341863	31341863	+	Missense_Mutation	SNP	G	G	T	rs140927329	by1000genomes	TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr16:31341863G>T	ENST00000544665.3	+	28	3287	c.3216G>T	c.(3214-3216)gaG>gaT	p.E1072D	ITGAM_ENST00000287497.8_Missense_Mutation_p.E1071D	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1071					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCACAGCTGAGATCTTGTTTA	0.612000													9	14					1.76689e-08	3.91435e-08	0.006214	1	0
HSD3B7	80270	broad.mit.edu	37	16	30997441	30997441	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr16:30997441G>A	ENST00000262520.6	+	3	528	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	AC135048.1_ENST00000602217.1_Silent_p.G31G|HSD3B7_ENST00000297679.5_Missense_Mutation_p.A80T|HSD3B7_ENST00000353250.5_Missense_Mutation_p.A80T	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	80					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGTGGCCGGAGCCCATGTGGT	0.652000													4	16					0	0	0.009096	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874303	31874303	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr21:31874303C>A	ENST00000334151.2	-	1	132	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	36						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CCGCCATAGCCCAGTCTGCGG	0.587000													56	109					7.41606e-26	2.22482e-25	0.014410	1	0
TRPA1	8989	broad.mit.edu	37	8	72952008	72952008	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr8:72952008C>G	ENST00000262209.4	-	18	2293	c.2086G>C	c.(2086-2088)Gag>Cag	p.E696Q	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	696						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGAGAAGCTCTATGCGGTTA	0.299000													28	58					0	0	0.012213	0	0
TLR4	7099	broad.mit.edu	37	9	120474686	120474686	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr9:120474686G>T	ENST00000355622.6	+	3	381	c.280G>T	c.(280-282)Gaa>Taa	p.E94*	TLR4_ENST00000394487.4_Nonsense_Mutation_p.E54*|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	94					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CCAGACAATTGAAGATGGGGC	0.388000													13	28					0.00185496	0.0036342	0.016723	1	0
KCNT2	343450	broad.mit.edu	37	1	196311313	196311313	+	Silent	SNP	T	T	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:196311313T>C	ENST00000367433.5	-	15	1550	c.1449A>G	c.(1447-1449)agA>agG	p.R483R	KCNT2_ENST00000451324.2_Silent_p.R94R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000294725.8_Silent_p.R483R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	483	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCCCGGAGCATCTACCGTACA	0.418000													69	48					0	0	0.014410	0	0
ZIC4	84107	broad.mit.edu	37	3	147108894	147108894	+	Silent	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr3:147108894C>A	ENST00000383075.3	-	4	1340	c.828G>T	c.(826-828)acG>acT	p.T276T	ZIC4_ENST00000525172.2_Silent_p.T326T|ZIC4_ENST00000491672.1_Silent_p.T70T|ZIC4_ENST00000425731.3_Silent_p.T314T|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.T276T|ZIC4_ENST00000484399.1_Silent_p.T276T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	276						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCTGGGGTGCGTGTAGCACT	0.642000													7	27					0.000157383	0.0003192	0.003080	1	0
CAMKK1	84254	broad.mit.edu	37	17	3788922	3788922	+	Silent	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr17:3788922C>A	ENST00000381771.2	-	2	207	c.60G>T	c.(58-60)gtG>gtT	p.V20V	CAMKK1_ENST00000348335.2_Silent_p.V20V|CAMKK1_ENST00000158166.5_Silent_p.V20V|CAMKK1_ENST00000381769.2_Silent_p.V47V			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	20					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CGATGGCTGCCACCCGTTCTA	0.612000													12	32					0.00010058	0.00020544	0.013537	1	0
FXYD5	53827	broad.mit.edu	37	19	35657273	35657273	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:35657273G>T	ENST00000543307.1	+	8	612	c.532G>T	c.(532-534)Gga>Tga	p.G178*	FXYD5_ENST00000423817.3_Intron|FXYD5_ENST00000591716.2_Intron|FXYD5_ENST00000342879.3_Intron|FXYD5_ENST00000590686.1_Intron|FXYD5_ENST00000588699.1_Nonsense_Mutation_p.G178*|FXYD5_ENST00000392217.3_Intron|FXYD5_ENST00000541435.2_Intron|FXYD5_ENST00000392219.2_Intron			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	0					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ACCAGGAGGGGGACTTATGAC	0.507000													39	61					3.62531e-18	9.4062e-18	0.019004	1	0
MRPL50	54534	broad.mit.edu	37	9	104153117	104153117	+	Silent	SNP	T	T	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr9:104153117T>C	ENST00000374865.4	-	2	129	c.108A>G	c.(106-108)ccA>ccG	p.P36P	MRPL50_ENST00000539624.1_Silent_p.P36P	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	36						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				CAACAACCACTGGCTCTTTCT	0.413000													38	45					0	0	0.021022	0	0
PDE2A	5138	broad.mit.edu	37	11	72291952	72291952	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr11:72291952T>C	ENST00000334456.5	-	24	2356	c.2111A>G	c.(2110-2112)aAc>aGc	p.N704S	PDE2A_ENST00000544570.1_Missense_Mutation_p.N697S|PDE2A_ENST00000540345.1_Missense_Mutation_p.N695S|PDE2A_ENST00000444035.2_Missense_Mutation_p.N695S|PDE2A_ENST00000376450.3_Missense_Mutation_p.N448S|PDE2A_ENST00000418754.2_Missense_Mutation_p.N589S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	704	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GAAAGAGTTGTTTGTGCCTCT	0.532000													16	32					0	0	0.008871	0	0
KEAP1	9817	broad.mit.edu	37	19	10602581	10602581	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:10602581C>A	ENST00000171111.5	-	3	1544	c.997G>T	c.(997-999)Ggc>Tgc	p.G333C	KEAP1_ENST00000393623.2_Missense_Mutation_p.G333C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	333			G -> C (in a NSCLC cell line; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G333S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGGAAGTAGCCGCCCGCGGTG	0.677000													9	7					2.17888e-05	4.54722e-05	0.006214	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72434363	72434363	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr10:72434363G>T	ENST00000373208.1	+	2	134	c.134G>T	c.(133-135)aGc>aTc	p.S45I	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.S45I	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	45					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GTGCCCTGCAGCACAGACTTT	0.567000													30	46					1.80694e-10	4.1632e-10	0.009535	1	0
DSCAM	1826	broad.mit.edu	37	21	42080524	42080524	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr21:42080524G>T	ENST00000400454.1	-	2	694	c.217C>A	c.(217-219)Cgc>Agc	p.R73S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	73	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACGTGGCGGATCCCGGGG	0.552000													23	56					5.26018e-13	1.27305e-12	0.012319	1	0
IKZF2	22807	broad.mit.edu	37	2	213872195	213872195	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr2:213872195C>A	ENST00000457361.1	-	8	1638	c.1470G>T	c.(1468-1470)atG>atT	p.M490I	IKZF2_ENST00000434687.1_Missense_Mutation_p.M490I|IKZF2_ENST00000451136.2_Missense_Mutation_p.M418I|IKZF2_ENST00000374319.4_Missense_Mutation_p.M464I|IKZF2_ENST00000421754.2_Missense_Mutation_p.M416I|IKZF2_ENST00000342002.2_Missense_Mutation_p.M496I|IKZF2_ENST00000374327.4_Missense_Mutation_p.M345I|IKZF2_ENST00000413091.3_3'UTR	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATGGCAACCCATGTGAATGG	0.498000													105	80					9.98844e-40	3.06029e-39	0.014410	1	0
GBP4	115361	broad.mit.edu	37	1	89650951	89650951	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:89650951C>T	ENST00000355754.6	-	11	2006	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S	GBP4_ENST00000471938.1_5'UTR	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	637						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATACGTGAGCCAAGATATTTT	0.348000													27	54					0	0	0.008361	0	0
BMPER	168667	broad.mit.edu	37	7	34192754	34192754	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr7:34192754A>T	ENST00000297161.2	+	16	2301	c.1927A>T	c.(1927-1929)Atc>Ttc	p.I643F	BMPER_ENST00000426693.1_Missense_Mutation_p.I643F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	643	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCCGGGATGTATCAAGACGTG	0.502000													40	84					0	0	0.011902	0	0
OR5T3	390154	broad.mit.edu	37	11	56020505	56020505	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr11:56020505G>T	ENST00000303059.3	+	1	830	c.830G>T	c.(829-831)gGa>gTa	p.G277V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CACCTAACTGGAGTGACAATT	0.403000													54	98					6.4308e-24	1.87078e-23	0.014410	1	0
ABCA12	26154	broad.mit.edu	37	2	215820069	215820069	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr2:215820069A>T	ENST00000272895.7	-	43	6469	c.6250T>A	c.(6250-6252)Tgg>Agg	p.W2084R	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.W1766R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2084					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)		AAGTACATCCAGGAAAATGTT	0.438000													47	59					0	0	0.014410	0	0
KANK4	163782	broad.mit.edu	37	1	62718834	62718834	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:62718834T>C	ENST00000371153.4	-	8	2965	c.2587A>G	c.(2587-2589)Atg>Gtg	p.M863V	KANK4_ENST00000317477.4_Start_Codon_SNP_p.M1V|KANK4_ENST00000354381.3_Missense_Mutation_p.M235V|KANK4_ENST00000371150.1_Missense_Mutation_p.M219V	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	863										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGAGTGATCATTACGGCAGTG	0.522000													42	68					0	0	0.011902	0	0
LPAR3	23566	broad.mit.edu	37	1	85331206	85331206	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:85331206G>C	ENST00000440886.1	-	1	636	c.598C>G	c.(598-600)Ctc>Gtc	p.L200V	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.L200V			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	200					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACCATGATGAGGAAGGCCATG	0.537000													24	32					0	0	0.021523	0	0
CFB	629	broad.mit.edu	37	6	31914202	31914202	+	Silent	SNP	G	G	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr6:31914202G>C	ENST00000556679.1	+	14	1678	c.1623G>C	c.(1621-1623)ctG>ctC	p.L541L	CFB_ENST00000456570.1_Silent_p.L541L|CFB_ENST00000477310.1_Intron|CFB_ENST00000425368.2_Silent_p.L39L			P00751	CFAB_HUMAN	complement factor B	39	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCTGCTCTCTGGAGGGGGTAG	0.597000													15	63					0	0	0.028581	0	0
ANK3	288	broad.mit.edu	37	10	61946575	61946575	+	Silent	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr10:61946575G>A	ENST00000280772.1	-	17	2174	c.1983C>T	c.(1981-1983)acC>acT	p.T661T	ANK3_ENST00000373827.2_Silent_p.T655T|ANK3_ENST00000503366.1_Silent_p.T644T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	661					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCCTTGCCGGGTAACTGCGT	0.522000													27	51					0	0	0.007291	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989933	64989933	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr14:64989933G>C	ENST00000358738.3	+	2	2102	c.1711G>C	c.(1711-1713)Gaa>Caa	p.E571Q	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.E571Q|ZBTB1_ENST00000554015.1_Missense_Mutation_p.E571Q	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGAAGAAAATGAAAGAGATCA	0.358000													53	88					0	0	0.014410	0	0
PRR12	57479	broad.mit.edu	37	19	50103069	50103069	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr19:50103069G>A	ENST00000418929.2	+	5	4231	c.4219G>A	c.(4219-4221)Gac>Aac	p.D1407N		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	586							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGCCCTCGATGACCCACCCCT	0.662000													37	76					0	0	0.008740	0	0
TCF20	6942	broad.mit.edu	37	22	42575679	42575679	+	Silent	SNP	G	G	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr22:42575679G>T	ENST00000359486.3	-	2	5821	c.5685C>A	c.(5683-5685)gcC>gcA	p.A1895A	TCF20_ENST00000404876.1_Silent_p.A196A|TCF20_ENST00000335626.4_Silent_p.A1895A	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1895					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AGCCCAAGGTGGCGCCTGCCT	0.557000													49	85					3.4597e-24	1.01673e-23	0.014410	1	0
TPH1	7166	broad.mit.edu	37	11	18048162	18048162	+	Silent	SNP	A	A	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr11:18048162A>T	ENST00000250018.2	-	6	1240	c.678T>A	c.(676-678)ggT>ggA	p.G226G	TPH1_ENST00000341556.2_Silent_p.G226G	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	226					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GGATGGAAAAACCTGTACGCT	0.418000													23	30					0	0	0.021523	0	0
KDM5D	8284	broad.mit.edu	37	Y	21870790	21870790	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chrY:21870790C>G	ENST00000541639.1	-	22	3432	c.3145G>C	c.(3145-3147)Gct>Cct	p.A1049P	KDM5D_ENST00000382806.2_Missense_Mutation_p.A961P|KDM5D_ENST00000317961.4_Missense_Mutation_p.A1018P	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1018					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GCAATCCAAGCTTGTGCCTTA	0.448000													20	11					0	0	0.018920	0	0
ZMYM1	79830	broad.mit.edu	37	1	35578842	35578842	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:35578842delA	ENST00000373330.1	+	11	1585	c.1411delA	c.(1411-1413)aafs	p.K472fs	ZMYM1_ENST00000359858.4_Frame_Shift_Del_p.K472fs|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	472						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAAAACAGTAAAAAAGATGT	0.343													7	68	---	---	---	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)gfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													7	350	---	---	---	---					
CPHL1P	389160	broad.mit.edu	37	3	148999032	148999033	+	RNA	INS	-	-	GAA	rs67798399	by1000genomes	TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr3:148999032_148999033insGAA	ENST00000482639.2	-	0	195																											GGGAAGACACTGAACAGtaaga	0.500													3	3	---	---	---	---					
NSUN7	79730	broad.mit.edu	37	4	40778252	40778253	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr4:40778252_40778253insT	ENST00000381782.2	+	7	1507_1508	c.1012_1013insT	c.(1012-1014)tttfs	p.F338fs	NSUN7_ENST00000316607.5_Frame_Shift_Ins_p.F338fs	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTTGAAGACCCTTTTCACAAAA	0.287													32	72	---	---	---	---					
UBA6	55236	broad.mit.edu	37	4	68501182	68501182	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr4:68501182delA	ENST00000322244.4	-	20	1890	c.1831delT	c.(1831-1833)acfs	p.Y611fs		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	611					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TGACTATTGTAAGACTCAGTC	0.323													25	31	---	---	---	---					
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs138827617	by1000genomes	TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGCTTTCACAAAAAAAATCA	0.327													8	3	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													7	325	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													4	7	---	---	---	---					
XKR4	114786	broad.mit.edu	37	8	56436672	56436672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr8:56436672delC	ENST00000327381.5	+	3	1939	c.1839delC	c.(1837-1839)gafs	p.D613fs		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	613						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ATGTTTTGGACCGAAGCCTCC	0.478													27	61	---	---	---	---					
HSD17B7P2	158160	broad.mit.edu	37	10	38658886	38658887	+	RNA	INS	-	-	T			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr10:38658886_38658887insT	ENST00000494540.1	+	0	730_731					NR_003086.1																						TGCAGCTTCGCTTTTTTGCAAA	0.312													22	33	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46215214	46215214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr12:46215214delT	ENST00000334344.6	+	6	821	c.649delT	c.(649-651)ttfs	p.F217fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.F68fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	217				F -> L (in Ref. 4; CAD91164).	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTAGGATCCTTTTCCACTGT	0.259			"""N, S, F"""		hepatocellular carcinoma								8	100	---	---	---	---					
TMED10	10972	broad.mit.edu	37	14	75601711	75601712	+	Splice_Site	INS	-	-	A			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426													7	76	---	---	---	---					
ELL3	80237	broad.mit.edu	37	15	44066401	44066409	+	In_Frame_Del	DEL	CCGAACTCT	CCGAACTCT	-	rs147224616		TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr15:44066401_44066409delCCGAACTCT	ENST00000319359.3	-	9	1650_1658	c.1009_1017delAGAGTTCGG	c.(1009-1017)del	p.RVR337del	ELL3_ENST00000497465.1_5'UTR|RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	337					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		p.R339W(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAGTTCCTCGCCGAACTCTTTTAATCTCT	0.502													18	42	---	---	---	---					
CACNA1G	8913	broad.mit.edu	37	17	48653249	48653251	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-78-7633-01A-11D-2063-08	TCGA-78-7633-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea06070-5a30-4f58-8117-68f669dbe7bf	35b3b1be-aabe-461a-b26a-44c7c39542c3	g.chr17:48653249_48653251delCAC	ENST00000352832.5	+	8	1858_1860	c.1486_1488delCAC	c.(1486-1488)del	p.H504del	CACNA1G_ENST00000429973.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000359106.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000416767.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.H504del	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	504	Poly-His.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCACCTGGTGcaccaccaccacc	0.700													2	4	---	---	---	---