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	ENST00000595337.1	-	3	478	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	DEDD2_ENST00000598727.1_Missense_Mutation_p.R131C|DEDD2_ENST00000336034.4_Missense_Mutation_p.R131C|DEDD2_ENST00000596251.1_Missense_Mutation_p.R131C|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	131					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|RNA processing|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	ENST00000232165.3	-	6	1723	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.R336Q|UBE3A_ENST00000566215.1_Missense_Mutation_p.R336Q|UBE3A_ENST00000397954.2_Missense_Mutation_p.R359Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.R336Q	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	359					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(1)		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
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	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.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	11					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs71828885		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.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577000													4	64					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	ENST00000449082.2	-	22	3994	c.3995G>A	c.(3994-3996)tGc>tAc	p.C1332Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	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	ENST00000392413.3	-	3	267	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	KIAA1683_ENST00000600359.2_5'UTR|KIAA1683_ENST00000600328.2_Missense_Mutation_p.G18S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	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	ENST00000380345.2	-	5	1122	c.447C>A	c.(445-447)ctC>ctA	p.L149L	LHFPL2_ENST00000515007.2_Silent_p.L149L	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	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					0.150653	0.153207	1	1	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	ENST00000390655.6	-	2	387	c.329A>G	c.(328-330)gAc>gGc	p.D110G	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.D110G|CD8B_ENST00000349455.3_Missense_Mutation_p.D110G|CD8B_ENST00000393761.2_Missense_Mutation_p.D110G|CD8B_ENST00000331469.2_Missense_Mutation_p.D110G	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	110	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			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	ENST00000405375.1	+	2	332	c.97G>A	c.(97-99)Gac>Aac	p.D33N	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Missense_Mutation_p.D33N|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D67N|CDKN1A_ENST00000373711.2_Missense_Mutation_p.D33N	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	33					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|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|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|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	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	ENST00000250448.2	-	2	858	c.797T>G	c.(796-798)tTc>tGc	p.F266C	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F233C	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	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|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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	ENST00000413679.2	+	17	2399	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	SEC14L1_ENST00000430767.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000585618.1_Missense_Mutation_p.A699V|SEC14L1_ENST00000392476.2_Missense_Mutation_p.A699V|SEC14L1_ENST00000431431.2_Missense_Mutation_p.A665V|SEC14L1_ENST00000436233.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000443798.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000591437.1_Missense_Mutation_p.A665V	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	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
IGHG2	0	broad.mit.edu	37	14	106110165	106110165	+	RNA	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.chr14:106110165C>T	ENST00000390545.2	-	0	452																											TGAACTGGACCTCGGGGTCTT	0.602000													5	228					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	ENST00000275162.4	+	2	1554	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	73					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.A73A(1)		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	ENST00000356818.2	+	4	3873	c.3324G>A	c.(3322-3324)ggG>ggA	p.G1108G	PPP1R26_ENST00000605286.1_Silent_p.G1108G|PPP1R26_ENST00000604351.1_Silent_p.G1108G|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.G1108G|PPP1R26_ENST00000605660.1_Silent_p.G1108G	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	1108						nucleolus	protein binding										CCCACCTGGGGCTGCCTCTGC	0.672000													5	25					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	ENST00000261531.7	-	5	583	c.521C>T	c.(520-522)gCt>gTt	p.A174V	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A174V|SNW1_ENST00000554775.1_Missense_Mutation_p.A12V	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	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
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	ENST00000314721.2	+	1	580	c.530G>A	c.(529-531)tGt>tAt	p.C177Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	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	ENST00000296518.7	+	9	1986	c.1777C>T	c.(1777-1779)Cgt>Tgt	p.R593C	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R335C|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R593C			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	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(1)		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	ENST00000300134.3	-	14	1876	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	STAT6_ENST00000543873.2_Missense_Mutation_p.W517C|STAT6_ENST00000538913.2_Missense_Mutation_p.W407C|STAT6_ENST00000537215.2_Missense_Mutation_p.W407C|STAT6_ENST00000556155.1_Missense_Mutation_p.W517C|STAT6_ENST00000454075.3_Missense_Mutation_p.W517C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	517	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA 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					0.115264	0.119239	1	1	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	ENST00000341928.2	-	13	2217	c.1877C>T	c.(1876-1878)cCg>cTg	p.P626L	EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P626L|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	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	ENST00000443617.2	-	6	1636	c.1549T>C	c.(1549-1551)Tca>Cca	p.S517P		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	517					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor 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	ENST00000367328.1	+	13	1702	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R464W	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	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	ENST00000375464.2	+	3	282	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	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	ENST00000397910.4	-	3	16973	c.16770G>T	c.(16768-16770)caG>caT	p.Q5590H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	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					1.49906e-05	1.69705e-05	1	1	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	ENST00000535633.1	-	7	781	c.471A>C	c.(469-471)gcA>gcC	p.A157A	NOX4_ENST00000527626.1_Silent_p.A15A|NOX4_ENST00000263317.4_Silent_p.A181A|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Silent_p.A202A|NOX4_ENST00000528341.1_Silent_p.A156A|NOX4_ENST00000525196.1_Silent_p.A181A|NOX4_ENST00000424319.1_Silent_p.A157A|NOX4_ENST00000532825.1_Silent_p.A157A|NOX4_ENST00000542487.1_Silent_p.A157A|NOX4_ENST00000527956.1_Silent_p.A157A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Silent_p.A181A|NOX4_ENST00000343727.5_Silent_p.A157A	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	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	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|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	ENST00000320031.8	+	4	914	c.584G>T	c.(583-585)gGc>gTc	p.G195V	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.G195V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	195					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			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					0.217242	0.217242	1	1	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	ENST00000321322.6	-	11	2444	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R545C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	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			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	ENST00000263054.6	-	16	2175	c.2168G>T	c.(2167-2169)tGc>tTc	p.C723F	SORCS1_ENST00000369698.1_Missense_Mutation_p.C258F|SORCS1_ENST00000344440.6_Missense_Mutation_p.C723F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	723						integral to membrane	neuropeptide receptor activity|protein binding			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					3.86212e-05	4.13799e-05	1	1	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	ENST00000447027.1	+	31	11922	c.11864C>A	c.(11863-11865)aCt>aAt	p.T3955N	MUC5B_ENST00000529681.1_Missense_Mutation_p.T3952N|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	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					0.004672	0.00491789	1	1	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	ENST00000219240.4	+	8	997	c.976C>T	c.(976-978)Cga>Tga	p.R326*	DHODH_ENST00000572887.1_Intron	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	326					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP 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	ENST00000316586.4	-	11	1509	c.1160A>C	c.(1159-1161)gAg>gCg	p.E387A	STK25_ENST00000405883.3_Missense_Mutation_p.E310A|STK25_ENST00000403346.3_Missense_Mutation_p.E387A|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000401869.1_Missense_Mutation_p.E387A|STK25_ENST00000405585.1_Missense_Mutation_p.E310A|STK25_ENST00000543554.1_Missense_Mutation_p.E293A|STK25_ENST00000535007.1_Missense_Mutation_p.E293A	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	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	ENST00000396094.2	+	4	318	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	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					7.63091e-17	8.8049e-17	1	1	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	ENST00000562435.1	-	6	950	c.566G>T	c.(565-567)cGc>cTc	p.R189L	NETO2_ENST00000303155.5_Missense_Mutation_p.R182L	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	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					3.59834e-05	3.92546e-05	1	1	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	ENST00000295756.6	+	6	579	c.349G>A	c.(349-351)Gtt>Att	p.V117I	TRAT1_ENST00000426646.1_Missense_Mutation_p.V80I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	117					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	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
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	ENST00000531224.1	-	7	2154	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	BCLAF1_ENST00000527759.1_Silent_p.S632S|BCLAF1_ENST00000353331.4_Silent_p.S632S|BCLAF1_ENST00000527536.1_Silent_p.S634S|BCLAF1_ENST00000392348.2_Silent_p.S632S|BCLAF1_ENST00000530767.1_Silent_p.S461S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	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
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	ENST00000359195.3	+	2	1433	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R375W|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R375W	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	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	ENST00000371383.2	-	4	1252	c.992C>T	c.(991-993)tCa>tTa	p.S331L	ENPP5_ENST00000492313.1_5'UTR|ENPP5_ENST00000230565.3_Missense_Mutation_p.S331L			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	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	ENST00000264162.2	-	8	3748	c.3738C>T	c.(3736-3738)aaC>aaT	p.N1246N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	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			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
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	ENST00000263083.6	+	8	940	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	DPH1_ENST00000570477.1_Missense_Mutation_p.R219C	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	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
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	ENST00000296564.7	+	13	3494	c.3272C>G	c.(3271-3273)cCt>cGt	p.P1091R		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	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
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	ENST00000264731.3	+	7	1030	c.941G>C	c.(940-942)gGa>gCa	p.G314A	TP63_ENST00000456148.1_Missense_Mutation_p.G220A|TP63_ENST00000392463.2_Missense_Mutation_p.G220A|TP63_ENST00000392461.3_Missense_Mutation_p.G220A|TP63_ENST00000437221.1_Missense_Mutation_p.G220A|TP63_ENST00000440651.2_Missense_Mutation_p.G314A|TP63_ENST00000354600.5_Missense_Mutation_p.G220A|TP63_ENST00000418709.2_Missense_Mutation_p.G314A|TP63_ENST00000449992.1_Missense_Mutation_p.G135A|TP63_ENST00000392460.3_Missense_Mutation_p.G314A|TP63_ENST00000382063.4_Missense_Mutation_p.G229A|TP63_ENST00000320472.5_Missense_Mutation_p.G314A	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	314					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|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	ENST00000389378.2	-	11	1660	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	TNIP1_ENST00000524280.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000518977.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000521591.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000523338.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000520931.1_Nonsense_Mutation_p.Q305*|TNIP1_ENST00000315050.7_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000522226.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000523200.1_Nonsense_Mutation_p.Q358*	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	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	ENST00000443617.2	-	6	1637	c.1550C>G	c.(1549-1551)tCa>tGa	p.S517*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	517					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor 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	ENST00000316824.3	+	2	455	c.300C>A	c.(298-300)aaC>aaA	p.N100K		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	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					3.45872e-05	3.84302e-05	1	1	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	ENST00000379735.5	-	17	2456	c.2185A>C	c.(2185-2187)Acc>Ccc	p.T729P	SEC24D_ENST00000419654.2_Missense_Mutation_p.T284P|SEC24D_ENST00000511481.1_Missense_Mutation_p.T359P|SEC24D_ENST00000429811.2_Missense_Mutation_p.T284P|SEC24D_ENST00000280551.6_Missense_Mutation_p.T728P|SEC24D_ENST00000505134.1_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	728					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi 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
RGPD8	727851	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	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						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	ENST00000355481.4	+	28	3911	c.3780C>T	c.(3778-3780)gaC>gaT	p.D1260D	RYR1_ENST00000360985.3_Silent_p.D1260D|RYR1_ENST00000359596.3_Silent_p.D1260D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1260	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)	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	ENST00000589042.1	-	358	103434	c.103210T>C	c.(103210-103212)Tcc>Ccc	p.S34404P	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S32763P|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S25464P|TTN_ENST00000342175.6_Missense_Mutation_p.S25531P|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S25339P|TTN_ENST00000342992.6_Missense_Mutation_p.S31836P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32763							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	0	broad.mit.edu	37	22	42538870	42538870	+	RNA	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	ENST00000358097.4	-	0	449				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_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	ENST00000398665.3	+	27	4259	c.4223G>A	c.(4222-4224)gGc>gAc	p.G1408D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	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	ENST00000393331.3	-	7	869	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)		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	ENST00000379938.2	+	10	2816	c.2279A>G	c.(2278-2280)gAg>gGg	p.E760G	RREB1_ENST00000349384.6_Missense_Mutation_p.E760G|RREB1_ENST00000379933.3_Missense_Mutation_p.E760G|RREB1_ENST00000334984.6_Missense_Mutation_p.E760G	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	760					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGTGCGGCGAGGACCTCAAG	0.672000													5	74					0	0	1	0	0
RP1-125I3.2	0	broad.mit.edu	37	1	26186960	26186960	+	RNA	DEL	T	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.chr1:26186960delT	ENST00000455431.1	+	0	263																											AATTTTGTAATTTTTTTTTTT	0.552													2	4	---	---	---	---					
RP11-782C8.1	0	broad.mit.edu	37	1	143230498	143230499	+	RNA	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.chr1:143230498_143230499insA	ENST00000438000.1	+	0	147				RP11-782C8.5_ENST00000427309.1_lincRNA																							GCTTCCCCCTCAAAAAAAGGAA	0.292													3	6	---	---	---	---					
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	ENST00000368799.1	-	3	5461	c.5426delG	c.(5425-5427)gtfs	p.G1809fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	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	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175585079	175585079	+	RNA	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.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5	---	---	---	---					
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	ENST00000409792.3	-	12	5770	c.5728delG	c.(5728-5730)atfs	p.D1910fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	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	ENST00000393434.2	-	15	2117_2118	c.1768_1769insT	c.(1768-1770)cggfs	p.R590fs	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Frame_Shift_Ins_p.R489fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Ins_p.R590fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Ins_p.R600fs	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	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	---	---	---	---					
RP11-941H19.3	0	broad.mit.edu	37	8	81213789	81213794	+	RNA	DEL	CACACA	CACACA	-	rs71266069		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.chr8:81213789_81213794delCACACA	ENST00000522044.1	+	0	404																											CCCCCACCACcacacacacacacaca	0.544													3	3	---	---	---	---					
RP13-726E6.2	0	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		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.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													7	5	---	---	---	---					
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	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcfs	p.S269fs	FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	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	0	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	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cca>c	p.QPP233del	ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	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(3)		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	---	---	---	---