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
PGM1	5236	broad.mit.edu	37	1	64089265	64089265	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:64089265A>G	ENST00000371083.4	+	1	502	c.134A>G	c.(133-135)tAt>tGt	p.Y45C	PGM1_ENST00000540265.1_Intron|PGM1_ENST00000371084.3_Intron	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	27					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	p.Y45C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AAGAAAACCTATTATTTTGAG	0.418													29	117	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576873	158576873	+	Silent	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:158576873C>T	ENST00000361284.1	+	1	645	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T215T(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTTCATCACCATCTCCTACG	0.537													28	267	---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182550489	182550489	+	Silent	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:182550489G>A	ENST00000367559.3	-	5	2029	c.1776C>T	c.(1774-1776)cgC>cgT	p.R592R	RNASEL_ENST00000539397.1_Silent_p.R592R|RNASEL_ENST00000444138.1_Silent_p.R592R	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	592	KEN.		R -> H (in dbSNP:rs35896902).		mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	p.R592R(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCGTCCTATAGCGGCTGAAGA	0.413													46	187	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203682293	203682293	+	Splice_Site	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:203682293G>A	ENST00000357681.5	+	14	3335	c.2212G>A	c.(2212-2214)Gta>Ata	p.V738I	ATP2B4_ENST00000391954.2_Splice_Site_p.V738I|ATP2B4_ENST00000341360.2_Splice_Site_p.V738I|ATP2B4_ENST00000367218.3_Splice_Site_p.V738I|ATP2B4_ENST00000367219.3_Splice_Site_p.V726I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	738					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.V738I(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGTTGGCAGGTAGAGCAAGA	0.502													34	153	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915655	48915655	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:48915655A>T	ENST00000294954.7	-	11	1302	c.1281T>A	c.(1279-1281)taT>taA	p.Y427*	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.Y365*|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Y400*	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	427					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.Y427*(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCATGGTTATAGTACTGGC	0.493													12	94	---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187693166	187693166	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:187693166A>T	ENST00000295131.2	-	9	1486	c.1447T>A	c.(1447-1449)Tta>Ata	p.L483I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	483					apoptosis		zinc ion binding	p.L483I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCATAGGTTAATTTTTTTGAA	0.318													17	85	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79029070	79029070	+	Silent	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:79029070A>G	ENST00000446378.2	+	2	4513	c.4482A>G	c.(4480-4482)aaA>aaG	p.K1494K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1494						perinuclear region of cytoplasm		p.K1494K(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGAAGACAAACAAGATCTTT	0.403													13	213	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140604725	140604725	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:140604725C>G	ENST00000239449.4	+	1	1648	c.1648C>G	c.(1648-1650)Ctg>Gtg	p.L550V	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L397V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		550	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCGTGCTGGTGCTGGA	0.716													5	79	---	---	---	---
VGF	7425	broad.mit.edu	37	7	100807837	100807837	+	Silent	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr7:100807837G>A	ENST00000249330.2	-	2	527	c.288C>T	c.(286-288)ccC>ccT	p.P96P	VGF_ENST00000445482.2_Silent_p.P96P	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	96					response to cAMP	extracellular space|transport vesicle	growth factor activity	p.P96P(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGGTGCCGGGGGTGAGGCGG	0.716													4	21	---	---	---	---
TNFRSF11B	4982	broad.mit.edu	37	8	119945484	119945484	+	Missense_Mutation	SNP	A	A	C	rs144062067	byFrequency	TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr8:119945484A>C	ENST00000297350.4	-	2	464	c.86T>G	c.(85-87)cTt>cGt	p.L29R		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	29					apoptosis|skeletal system development		cytokine activity|receptor activity	p.L29R(2)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTCATAATGAAGGTACTTTGG	0.443													36	165	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172250	94172250	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr9:94172250G>C	ENST00000297689.3	-	2	1161	c.767C>G	c.(766-768)tCa>tGa	p.S256*		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	256					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S256*(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GGGAGAGTGTGAGTACCCAGA	0.488													28	187	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24820812	24820812	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr10:24820812C>A	ENST00000376451.2	+	10	2445	c.2185C>A	c.(2185-2187)Cct>Act	p.P729T	KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1046T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T			Q5T5P2	SKT_HUMAN	KIAA1217	1046					embryonic skeletal system development	cytoplasm		p.P1046T(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAGTCGCCCCCTCCTCCTCC	0.517													3	55	---	---	---	---
NDST2	8509	broad.mit.edu	37	10	75565719	75565719	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr10:75565719G>A	ENST00000603027.1	-	7	2125	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	NDST2_ENST00000299641.4_Missense_Mutation_p.S378F|NDST2_ENST00000309979.6_Missense_Mutation_p.S501F						501								p.S501F(1)									TAGTTCACGAGAGCCTCCAGG	0.507													34	129	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7640278	7640278	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr12:7640278A>G	ENST00000396620.3	-	7	1911	c.1826T>C	c.(1825-1827)cTc>cCc	p.L609P	CD163_ENST00000432237.2_Intron|CD163_ENST00000541972.1_Intron|CD163_ENST00000359156.4_Intron			Q86VB7	C163A_HUMAN	CD163 molecule	579	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.?(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCTGGAAGGAGACAGGGCTT	0.488													40	145	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104487302	104487302	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr12:104487302C>T	ENST00000229330.4	+	10	1527	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	475					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.H475Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTTCTAATCATAATAGTCA	0.323													17	98	---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81993164	81993164	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:81993164C>T	ENST00000336735.4	-	3	369	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SEL1L_ENST00000555824.1_Missense_Mutation_p.E85K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	85	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.E85K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTGACACTTTCCCCCTCTTGG	0.418													10	316	---	---	---	---
IGHV1-58	28464	broad.mit.edu	37	14	107078542	107078542	+	RNA	SNP	C	C	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:107078542C>A	ENST00000390628.2	-	0	242																											AAGGCGTTGTCCACGAGCCTG	0.532													4	28	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99482581	99482581	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr15:99482581A>G	ENST00000268035.6	+	18	4060	c.3449A>G	c.(3448-3450)aAa>aGa	p.K1150R	IGF1R_ENST00000558762.1_Missense_Mutation_p.K1149R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1150	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.K1150R(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TTCACAGTCAAAATCGGAGGT	0.498													36	160	---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81095725	81095725	+	Missense_Mutation	SNP	T	T	C	rs17855893		TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr16:81095725T>C	ENST00000378611.4	-	3	344	c.229A>G	c.(229-231)Act>Gct	p.T77A	C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.T77A|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	77			T -> S (in dbSNP:rs17855893).					p.T77A(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GCTGGAGAAGTCCTTCCCCAC	0.552													29	100	---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34147368	34147368	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:34147368C>T	ENST00000588240.1	+	5	332	c.217C>T	c.(217-219)Caa>Taa	p.Q73*	AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000592237.1_5'UTR|TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q70*	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	73	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	p.Q73*(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTATGAGAATCAAAAGCAGAG	0.348			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								16	73	---	---	---	---
SRSF2	6427	broad.mit.edu	37	17	74732290	74732290	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:74732290T>A	ENST00000392485.2	-	2	791	c.619A>T	c.(619-621)Aag>Tag	p.K207*	MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.K207*|SRSF2_ENST00000508921.3_Nonsense_Mutation_p.K195*|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	207	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	p.K187*(1)|p.K207*(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGGGGACTCTTCGATCGCGAC	0.547			Mis		"""MDS, CLL"""								5	175	---	---	---	---
SRSF2	6427	broad.mit.edu	37	17	74732291	74732291	+	Silent	SNP	C	C	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:74732291C>A	ENST00000392485.2	-	2	790	c.618G>T	c.(616-618)tcG>tcT	p.S206S	MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Silent_p.S206S|SRSF2_ENST00000508921.3_Silent_p.S194S|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	206	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	p.S186S(1)|p.S206S(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGGGACTCTTCGATCGCGACC	0.547			Mis		"""MDS, CLL"""								6	175	---	---	---	---
ESCO1	114799	broad.mit.edu	37	18	19116092	19116092	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr18:19116092G>C	ENST00000269214.5	-	10	3035	c.2098C>G	c.(2098-2100)Cta>Gta	p.L700V		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	700					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.L700V(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TAGCACATTAGTGGAGCCTGT	0.333													44	170	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602358	10602358	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:10602358G>A	ENST00000171111.5	-	3	1767	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	KEAP1_ENST00000393623.2_Missense_Mutation_p.A407V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.A407V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCTCATGGGGGCGCAGGGCGA	0.652													5	17	---	---	---	---
IZUMO2	126123	broad.mit.edu	37	19	50662822	50662822	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:50662822T>C	ENST00000293405.3	-	3	323	c.323A>G	c.(322-324)gAa>gGa	p.E108G		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	108						integral to membrane		p.E108G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CACCAGCTCTTCCAGCAGAGG	0.493													9	87	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56244522	56244522	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:56244522G>T	ENST00000332836.2	-	2	702	c.675C>A	c.(673-675)ttC>ttA	p.F225L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	225	NACHT.					cytoplasm	ATP binding	p.F225L(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CATCCATGATGAACAGAATTC	0.483													5	48	---	---	---	---
MAPRE1	22919	broad.mit.edu	37	20	31424469	31424469	+	Silent	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr20:31424469A>G	ENST00000375571.5	+	4	436	c.297A>G	c.(295-297)ggA>ggG	p.G99G		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	99	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	p.G99G(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TAGTAAAAGGAAAGTTTCAGG	0.398													13	73	---	---	---	---
HDAC6	10013	broad.mit.edu	37	X	48674947	48674947	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chrX:48674947T>G	ENST00000334136.5	+	19	1876	c.1698T>G	c.(1696-1698)ttT>ttG	p.F566L	HDAC6_ENST00000376619.2_Missense_Mutation_p.F566L|HDAC6_ENST00000444343.2_Missense_Mutation_p.F580L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	566	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.F566L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTTCCAACTTTGACTCCATCT	0.592													16	22	---	---	---	---
HDAC6	10013	broad.mit.edu	37	X	48674948	48674948	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chrX:48674948G>C	ENST00000334136.5	+	19	1877	c.1699G>C	c.(1699-1701)Gac>Cac	p.D567H	HDAC6_ENST00000376619.2_Missense_Mutation_p.D567H|HDAC6_ENST00000444343.2_Missense_Mutation_p.D581H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	567	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.D567Y(1)|p.D567H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TTCCAACTTTGACTCCATCTA	0.592													16	21	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227661593	227661593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:227661593delG	ENST00000305123.5	-	1	2882	c.1862delC	c.(1861-1863)ccafs	p.P621fs		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACTGGGCACTGGGGCCACCCC	0.632											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	98	---	---	---	---
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3595042	3595042	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:3595042delG	ENST00000550383.1	-	2	372	c.184delC	c.(184-186)ctgfs	p.L62fs	P2RX5_ENST00000551178.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552050.1_Frame_Shift_Del_p.L26fs|P2RX5_ENST00000345901.3_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000225328.5_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552276.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000435558.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000547178.1_Frame_Shift_Del_p.L62fs																							GCACTCTGCAGGGAGGTGTCG	0.592													39	215	---	---	---	---
