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
DEDD2	162989	broad.mit.edu	37	19	42719342	42719342	+	Missense_Mutation	SNP	G	G	A	rs139696001		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:42719342G>A	uc002osu.1	-	2	459	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Missense_Mutation_p.R131C	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	131					RNA processing|activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGACGGCGACGGCAGCTACCC	0.552000													32	140					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616254	25616254	+	Missense_Mutation	SNP	C	C	T	rs140204238		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr15:25616254C>T	uc001zaq.3	-	6	1836	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.R336Q|UBE3A_uc001zas.3_Missense_Mutation_p.R356Q|UBE3A_uc001zat.3_Missense_Mutation_p.R336Q	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	359				R -> RNLVNEFNSR (in Ref. 7; AA sequence).	brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.R359Q(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CACTAGATTTCGACTGTTAAA	0.383000													4	141					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136594276	136594276	+	Silent	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:136594276C>T	uc003qgx.1	-	6	2155	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	BCLAF1_uc003qgy.1_Silent_p.S632S|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.S632S|BCLAF1_uc003qgw.1_Silent_p.S461S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	634					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S634S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTTCTGATACGAAGTGAACC	0.388000													4	226					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753746	38753746	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:38753746C>T	uc003ciq.3	-	21	3995	c.3995G>A	c.(3994-3996)tGc>tAc	p.C1332Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1332					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGAATCTTGCAGTCAGACTT	0.448000													13	140					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378298	18378298	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:18378298C>T	uc010ebn.2	-	2	268	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	KIAA1683_uc002nin.2_Missense_Mutation_p.G18S|KIAA1683_uc010xqe.1_5'UTR	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	18						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCTAGGCGGCCGGCTGCATTG	0.632000													7	255					0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77784960	77784960	+	Silent	SNP	G	G	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr5:77784960G>T	uc003kfo.3	-	4	1123	c.447C>A	c.(445-447)ctC>ctA	p.L149L		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	149						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GTATCAAACCGAGGATAAGGA	0.458000													4	116					0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085254	87085254	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:87085254T>C	uc002srw.3	-	1	388	c.329A>G	c.(328-330)gAc>gGc	p.D110G	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Missense_Mutation_p.D110G|CD8B_uc002sry.3_Missense_Mutation_p.D110G|CD8B_uc010fgt.3_Missense_Mutation_p.D110G|CD8B_uc002srz.3_Missense_Mutation_p.D110G|CD8B_uc010yto.2_Missense_Mutation_p.D110G	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	110	Ig-like V-type.				T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GATGCCACTGTCTTCCGGCTT	0.532000													11	151					0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36651975	36651975	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:36651975G>A	uc021yzb.1	+	2	199	c.97G>A	c.(97-99)Gac>Aac	p.D33N	CDKN1A_uc021yzc.1_Missense_Mutation_p.D33N|CDKN1A_uc011dtq.2_Missense_Mutation_p.D67N|CDKN1A_uc003omm.4_Missense_Mutation_p.D33N|CDKN1A_uc003omn.3_Missense_Mutation_p.D33N	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	33					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence	PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCTGAGCCGCGACTGTGATGC	0.647000													4	62					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061192	38061192	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr14:38061192A>C	uc001wuf.3	-	1	1109	c.797T>G	c.(796-798)tTc>tGc	p.F266C	FOXA1_uc010tpz.2_Missense_Mutation_p.F233C	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	266					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTCGCACTTGAAGCGCTTCTG	0.726000													8	31					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75210053	75210053	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:75210053C>T	uc010dhc.3	+	16	2416	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	SEC14L1_uc021udw.1_Missense_Mutation_p.A699V|SEC14L1_uc021udx.1_Missense_Mutation_p.A699V|SEC14L1_uc002jto.3_Missense_Mutation_p.A699V|SEC14L1_uc010wth.2_Missense_Mutation_p.A699V|SEC14L1_uc002jtm.3_Missense_Mutation_p.A699V|SEC14L1_uc010wti.2_Missense_Mutation_p.A665V|SEC14L1_uc010wtj.1_3'UTR|SEC14L1_uc002jtr.2_3'UTR	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	699					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CAGCTGAGTGCCGCCACCACC	0.662000													4	154					0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1943642	1943642	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:1943642C>T	uc010vqs.2	+	6	931	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C	DPH1_uc002fts.3_Missense_Mutation_p.R299C|DPH1_uc002ftt.3_Missense_Mutation_p.R283C|DPH1_uc010cjx.3_Missense_Mutation_p.R159C|DPH1_uc002ftv.3_Missense_Mutation_p.R55C|DPH1_uc002ftw.3_Missense_Mutation_p.R27C|OVCA2_uc002ftx.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	299					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CACTTTGGGCCGCCAGGGCAG	0.597000													8	109					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319141	123319141	+	Silent	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:123319141G>A	uc003pzi.1	+	1	1088	c.219G>A	c.(217-219)gcG>gcA	p.A73A		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	73					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.A73A(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GCCTCCTGGCGCAGTACTTTG	0.562000													37	153					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379680	138379680	+	Silent	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr9:138379680G>A	uc022bpi.1	+	0	3324	c.3324G>A	c.(3322-3324)ggG>ggA	p.G1108G	PPP1R26_uc004cfr.1_Silent_p.G1108G	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	1108						nucleolus	protein binding										CCCACCTGGGGCTGCCTCTGC	0.672000													5	25					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111206	55111206	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:55111206G>A	uc010rie.2	+	0	530	c.530G>A	c.(529-531)tGt>tAt	p.C177Y		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CACTCTGTCTGTGACATGTAC	0.443000													9	166					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643250	156643250	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:156643250C>T	uc003iov.3	+	9	2313	c.1777C>T	c.(1777-1779)Cgt>Tgt	p.R593C	GUCY1A3_uc010iqc.2_Missense_Mutation_p.R593C|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R592C|GUCY1A3_uc003iow.3_Missense_Mutation_p.R593C|GUCY1A3_uc003iox.3_Missense_Mutation_p.R593C|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R358C|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R593C|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R358C|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R593C	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	593	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.R593S(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TAAAATGCCCCGTTACTGTCT	0.423000													5	203					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57493835	57493835	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr12:57493835C>A	uc009zpg.3	-	13	1700	c.1698G>T	c.(1696-1698)tgG>tgT	p.W566C	STAT6_uc009zpe.3_Missense_Mutation_p.W517C|STAT6_uc001sna.3_Missense_Mutation_p.W517C|STAT6_uc009zpf.3_Missense_Mutation_p.W517C|STAT6_uc010srb.2_Missense_Mutation_p.W407C|STAT6_uc010src.2_Missense_Mutation_p.W407C|STAT6_uc010srd.2_Missense_Mutation_p.W407C	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	517	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CACCATCAAACCACTGCCAAA	0.612000													3	24					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416007	5416007	+	Missense_Mutation	SNP	G	G	A	rs141321874	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr18:5416007G>A	uc002kmt.1	-	12	1963	c.1877C>T	c.(1876-1878)cCg>cTg	p.P626L	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	626	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGAGCGGATCGGGAGGTAATG	0.532000													26	137					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64047509	64047509	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr15:64047509A>G	uc002amp.3	-	5	1697	c.1549T>C	c.(1549-1551)Tca>Cca	p.S517P	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.S517P	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	517					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TATCCAGCTGACACACAAACA	0.388000													6	24					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151140892	151140892	+	Missense_Mutation	SNP	C	C	T	rs144621364	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:151140892C>T	uc011eem.1	+	11	1655	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	PLEKHG1_uc011eel.1_Missense_Mutation_p.R504W|PLEKHG1_uc003qny.1_Missense_Mutation_p.R464W|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R464W	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	464					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGCTCCATATCGGCTGAGAAG	0.433000													8	171					0	0	1	0	0
C9orf89	84270	broad.mit.edu	37	9	95872853	95872853	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr9:95872853C>T	uc004atd.3	+	2	332	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	C9orf89_uc004atf.3_Non-coding_Transcript	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN	Homo sapiens chromosome 9 open reading frame 89 (C9orf89), mRNA.	52	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CCCTCAGTTCCGGAACCCCAA	0.667000													4	116					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070676	9070676	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:9070676C>A	uc002mkp.3	-	2	16974	c.16770G>T	c.(16768-16770)caG>caT	p.Q5590H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5592	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						GAGTCCCTCCCTGGAAAAGTG	0.512000													13	177					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89165957	89165957	+	Silent	SNP	T	T	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:89165957T>G	uc001pct.3	-	6	782	c.543A>C	c.(541-543)gcA>gcC	p.A181A	NOX4_uc009yvr.3_Silent_p.A156A|NOX4_uc001pcu.3_Silent_p.A107A|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Silent_p.A181A|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Silent_p.A15A|NOX4_uc009yvp.3_Silent_p.A181A|NOX4_uc010rtv.2_Silent_p.A157A|NOX4_uc009yvq.3_Silent_p.A157A|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	181	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTTACCTTATTGCATATGTAG	0.368000													9	34					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48145589	48145589	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:48145589G>T	uc010dbm.3	+	3	1048	c.584G>T	c.(583-585)gGc>gTc	p.G195V	ITGA3_uc010dbl.3_Missense_Mutation_p.G195V	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	195					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	p.T194T(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTGGAGACGGGCATGTGCCAG	0.592000													5	134					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117374656	117374656	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:117374656G>A	uc001prh.1	-	10	2445	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	755	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.R815H(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGACGTGGCGGATCAGCAGC	0.607000													7	124					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108431016	108431016	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr10:108431016C>A	uc001kyl.3	-	15	2350	c.2168G>T	c.(2167-2169)tGc>tTc	p.C723F	SORCS1_uc021pxw.1_Missense_Mutation_p.C723F|SORCS1_uc009xxs.3_Missense_Mutation_p.C723F|SORCS1_uc001kym.3_Missense_Mutation_p.C723F|SORCS1_uc001kyn.2_Missense_Mutation_p.C723F|SORCS1_uc001kyo.3_Missense_Mutation_p.C723F	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	723						integral to membrane	neuropeptide receptor activity|protein binding	p.V722F(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGCCTCAGTGCAGACACAGGG	0.418000													11	78					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269965	1269965	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:1269965C>A	uc001lta.3	+	30	11914	c.11855C>A	c.(11854-11856)aCt>aAt	p.T3952N		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3952	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		accacggccactacgatcacg	0.617000													3	13					0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72057375	72057375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr16:72057375C>T	uc002fbp.3	+	7	997	c.976C>T	c.(976-978)Cga>Tga	p.R326*		NM_001361	NP_001352	Q02127	PYRD_HUMAN	Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA.	326					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CTCTGTAGGCCGAGTTCCCAT	0.577000													4	106					0	0	1	0	0
STK25	10494	broad.mit.edu	37	2	242435894	242435894	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:242435894T>G	uc002wbm.3	-	9	1431	c.1160A>C	c.(1159-1161)gAg>gCg	p.E387A	STK25_uc002wbl.3_3'UTR|STK25_uc002wbn.3_Missense_Mutation_p.E387A|STK25_uc002wbo.3_Missense_Mutation_p.E310A|STK25_uc010zos.2_Missense_Mutation_p.E293A|STK25_uc010zot.2_Missense_Mutation_p.E313A|STK25_uc002wbp.3_Missense_Mutation_p.E387A|STK25_uc010fzo.3_Missense_Mutation_p.E310A|STK25_uc010zou.2_Missense_Mutation_p.E293A|STK25_uc010zov.2_Missense_Mutation_p.E293A	NM_006374	NP_006365	O00506	STK25_HUMAN	Homo sapiens serine/threonine kinase 25 (STK25), mRNA.	387					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GAAGGCGTTCTCCAGCTCCTC	0.652000													6	70					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71063769	71063769	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:71063769G>T	uc003hfc.3	+	3	287	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	90	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCCCAAATCAGATACCCTTAA	0.517000													37	206					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47156656	47156656	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr16:47156656C>A	uc002eer.2	-	5	979	c.566G>T	c.(565-567)cGc>cTc	p.R189L	NETO2_uc010vgf.2_Missense_Mutation_p.R182L	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	189	CUB 2.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTGACTAGAGCGCACTATTCC	0.428000										HNSCC(25;0.065)			4	147					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108572512	108572512	+	Missense_Mutation	SNP	G	G	A	rs149418284		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:108572512G>A	uc003dxi.1	+	5	493	c.349G>A	c.(349-351)Gtt>Att	p.V117I	TRAT1_uc010hpx.1_Missense_Mutation_p.V80I	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	117					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TGATCACAGCGTTAAGGGGAA	0.418000													5	98					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509129	106509129	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr7:106509129C>T	uc003vdv.4	+	1	1208	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PIK3CG_uc003vdu.3_Missense_Mutation_p.R375W|PIK3CG_uc003vdw.3_Missense_Mutation_p.R375W	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	375					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGTCCTGCCTCGGAACACCGA	0.557000													4	120					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46133138	46133138	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:46133138G>A	uc003oxz.1	-	2	1200	c.992C>T	c.(991-993)tCa>tTa	p.S331L	ENPP5_uc010jzc.1_Missense_Mutation_p.S331L|ENPP5_uc011dvz.1_Missense_Mutation_p.S237L|ENPP5_uc003oya.1_Missense_Mutation_p.S331L	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	331						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AAAGTCATCTGACTTATTCTG	0.348000													21	99					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566179	136566179	+	Silent	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:136566179G>A	uc002tuu.1	-	7	3749	c.3738C>T	c.(3736-3738)aaC>aaT	p.N1246N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1246	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.M1245T(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCGCAGCTCTGTTCATTGCCG	0.577000													4	110					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78205133	78205133	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr14:78205133G>A	uc010tvn.1	-	4	548	c.521C>T	c.(520-522)gCt>gTt	p.A174V	SNW1_uc001xuf.3_Missense_Mutation_p.A174V|SNW1_uc010tvm.2_Missense_Mutation_p.A99V			Q13573	SNW1_HUMAN	Homo sapiens SNW domain containing 1 (SNW1), mRNA.	174	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GATATACTGAGCAGGAGCCAA	0.438000													5	45					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439197	14439197	+	RNA	SNP	G	G	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr21:14439197G>C	uc002yja.4	+	9		c.2715G>C								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAAGAAGAGAAGAGAAGAA	0.289000													5	41					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462719	5462719	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr5:5462719C>G	uc003jdm.4	+	12	3494	c.3272C>G	c.(3271-3273)cCt>cGt	p.P1091R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1091										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTAGCCTGCCTGGTACCTTA	0.498000													8	99					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605899	1605899	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:1605899T>C	uc001ltu.1	-	0	615	c.581A>G	c.(580-582)aAg>aGg	p.K194R	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	194	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.S193Y(2)|p.K194K(1)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAACCCCCCTTGGATCCCCC	0.672000													4	82					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189585680	189585680	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:189585680G>C	uc003fry.2	+	6	1030	c.941G>C	c.(940-942)gGa>gCa	p.G314A	TP63_uc003frx.2_Missense_Mutation_p.G314A|TP63_uc003frz.2_Missense_Mutation_p.G314A|TP63_uc010hzc.1_Missense_Mutation_p.G314A|TP63_uc003fsa.2_Missense_Mutation_p.G220A|TP63_uc003fsb.2_Missense_Mutation_p.G220A|TP63_uc003fsc.2_Missense_Mutation_p.G220A|TP63_uc003fsd.2_Missense_Mutation_p.G220A|TP63_uc021xir.1_Missense_Mutation_p.G220A|TP63_uc010hzd.1_Missense_Mutation_p.G135A|TP63_uc003fse.1_Missense_Mutation_p.G195A	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	314					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTTGTGTTGGAGGGATGAAC	0.393000										HNSCC(45;0.13)			5	28					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150422163	150422163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr5:150422163G>A	uc003lti.3	-	10	1313	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	TNIP1_uc010jhq.2_Nonsense_Mutation_p.Q305*|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Nonsense_Mutation_p.Q305*|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Nonsense_Mutation_p.Q358*|TNIP1_uc010jhm.3_Nonsense_Mutation_p.Q358*|TNIP1_uc010jhr.2_Nonsense_Mutation_p.Q358*|TNIP1_uc011dco.2_Nonsense_Mutation_p.Q358*|TNIP1_uc003ltg.3_Nonsense_Mutation_p.Q305*|TNIP1_uc003ltk.3_Nonsense_Mutation_p.Q358*|TNIP1_uc003ltj.3_Nonsense_Mutation_p.Q358*|TNIP1_uc021ygb.1_Nonsense_Mutation_p.Q358*	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	358	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGCTTCTGCTCCCGCTCG	0.577000													4	58					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64047508	64047508	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr15:64047508G>C	uc002amp.3	-	5	1698	c.1550C>G	c.(1549-1551)tCa>tGa	p.S517*	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Nonsense_Mutation_p.S517*	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	517					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTATCCAGCTGACACACAAAC	0.388000													6	25					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85677423	85677423	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr12:85677423C>A	uc001tae.4	+	1	304	c.300C>A	c.(298-300)aaC>aaA	p.N100K		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	100					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		ACAACTGTAACAGTCTCCGAA	0.463000													15	90					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119661874	119661874	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:119661874T>G	uc003ici.4	-	16	2454	c.2182A>C	c.(2182-2184)Acc>Ccc	p.T728P	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Missense_Mutation_p.T729P|SEC24D_uc003icl.2_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	728					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AACTCCACGGTCACTGCCTTG	0.433000													12	92					0	0	1	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000													3	55					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38964031	38964031	+	Silent	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:38964031C>T	uc002oit.3	+	27	3910	c.3780C>T	c.(3778-3780)gaC>gaT	p.D1260D	RYR1_uc002oiu.3_Silent_p.D1260D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1260	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	CCCGAGTGGACGGCACTGTGG	0.672000													12	221					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179398132	179398132	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:179398132A>G	uc021vsy.1	-	306	95731	c.95506T>C	c.(95506-95508)Tcc>Ccc	p.S31836P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S25531P|TTN_uc021vta.1_Missense_Mutation_p.S25464P|TTN_uc021vtb.1_Missense_Mutation_p.S25339P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32763	Fibronectin type-III 131.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCCGAGGGACAGTGGCTGA	0.463000													18	77					0	0	1	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538870	42538870	+	Missense_Mutation	SNP	A	A	C	rs2982057	by1000genomes	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr22:42538870A>C	uc003bci.3	-	2	475	c.94T>G	c.(94-96)Tcg>Gcg	p.S32A	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													3	50					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226743	2226743	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:2226743G>A	uc002lvc.1	+	12	2872	c.2105G>A	c.(2104-2106)gGc>gAc	p.G702D	DOT1L_uc002lvb.4_Missense_Mutation_p.G1408D	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1408						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGAGCGGCAAGGCCGCC	0.721000													3	29					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:47696424G>C	uc002ipg.3	-	4	696	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_uc010dbk.3_Missense_Mutation_p.F133L|SPOP_uc002ipb.3_Missense_Mutation_p.F133L|SPOP_uc002ipc.3_Missense_Mutation_p.F133L|SPOP_uc002ipd.3_Missense_Mutation_p.F133L|SPOP_uc002ipe.3_Missense_Mutation_p.F133L|SPOP_uc002ipf.3_Missense_Mutation_p.F133L	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(14)|p.F133V(4)|p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448000										Prostate(2;0.17)			27	140					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230611	7230611	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:7230611A>G	uc003mxb.3	+	9	2771	c.2279A>G	c.(2278-2280)gAg>gGg	p.E760G	RREB1_uc021yky.1_Missense_Mutation_p.E760G|RREB1_uc003mxc.3_Missense_Mutation_p.E760G|RREB1_uc010jnx.3_Missense_Mutation_p.E760G|RREB1_uc021ykz.1_Missense_Mutation_p.E760G|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	760					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGTGCGGCGAGGACCTCAAG	0.672000													5	74					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281936	152281936	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr1:152281936delC	uc001ezu.1	-	2	5462	c.5426delG	c.(5425-5427)ggtfs	p.G1809fs		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1809	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGTCCTGACCCTCTTGGGA	0.597									Ichthyosis				136	682	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47125542	47125542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:47125542delC	uc003cqv.3	-	12	6015	c.5929delG	c.(5929-5931)gatfs	p.D1977fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.D1910fs|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTAATTGATCAAGATCCTCT	0.418			"""N, F, S, Mis"""		clear cell renal carcinoma								7	330	---	---	---	---					
ALDH1L1	10840	broad.mit.edu	37	3	125844490	125844491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:125844490_125844491insA	uc003eim.1	-	14	1958_1959	c.1768_1769insT	c.(1768-1770)gccfs	p.A590fs	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Frame_Shift_Ins_p.A489fs	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	590	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGTGTTCCCGGCAGCCAGGCAG	0.569													25	122	---	---	---	---					
FAM111B	374393	broad.mit.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:58892377delA	uc001nnl.3	+	3	1050	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_uc001nnm.3_Frame_Shift_Del_p.S239fs|FAM111B_uc010rko.2_Frame_Shift_Del_p.S239fs|FAM111B_uc021qjn.1_Frame_Shift_Del_p.S239fs	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	269							catalytic activity	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313													8	63	---	---	---	---					
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr14:21560753_21560758delGAGGCT	uc001vzr.2	-	2	1119_1124	c.698_703delAGCCTC	c.(697-705)cagcctcca>cca	p.QP233del	ZNF219_uc001vzs.2_In_Frame_Del_p.QP233del|ZNF219_uc010aik.1_In_Frame_Del_p.QP233del	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	Homo sapiens zinc finger protein 219 (ZNF219), transcript variant 1, mRNA.	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(6)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---					
