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
DTX1	1840	broad.mit.edu	37	12	113515368	113515368	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:113515368C>T	ENST00000257600.3	+	2	902	c.399C>T	c.(397-399)taC>taT	p.Y133Y		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	133	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGAACGCCTACGAGAAGCAGC	0.627000													4	63					0	0	0.248553	0	0
GRID1	2894	broad.mit.edu	37	10	87482888	87482888	+	Silent	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:87482888A>G	ENST00000327946.7	-	12	1954	c.1869T>C	c.(1867-1869)tcT>tcC	p.S623S	GRID1_ENST00000536331.1_Silent_p.S194S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	623						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGTTCACGGAAGATTCGCCAC	0.597000										Multiple Myeloma(13;0.14)			13	50					0	0	0.457914	0	0
ZNF30	90075	broad.mit.edu	37	19	35434153	35434153	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:35434153G>C	ENST00000439785.1	+	5	730	c.286G>C	c.(286-288)Ggc>Cgc	p.G96R	ZNF30_ENST00000303586.7_Missense_Mutation_p.G96R|ZNF30_ENST00000426813.2_Missense_Mutation_p.G14R|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.G95R	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TGATACAATCGGCTGTAAAGA	0.323000													6	20					0	0	0.217242	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188154	72188154	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:72188154C>A	ENST00000537465.1	-	4	528	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D124Y			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	124										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGAACCAGGTCGGAAGTCTGC	0.448000													84	259					9.36137e-61	1.27396e-60	0.870114	1	0
MORC1	27136	broad.mit.edu	37	3	108725922	108725922	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:108725922A>G	ENST00000232603.5	-	18	1803	c.1721T>C	c.(1720-1722)gTg>gCg	p.V574A	MORC1_ENST00000483760.1_Intron	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	574					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GATTTCGTCCACTGGTATAAA	0.363000													24	108					0	0	0.654019	0	0
SLC5A8	160728	broad.mit.edu	37	12	101576647	101576647	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:101576647C>A	ENST00000536262.2	-	9	1657	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	367					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGATTAGATCTTCCACAGTT	0.343000													25	127					1.32003e-05	1.44972e-05	0.693898	1	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74569350	74569350	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:74569350C>T	ENST00000225276.5	-	4	776	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	153					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TTGCCCACCACGGCACACCGG	0.607000													5	26					0	0	0.217242	0	0
RNF213	57674	broad.mit.edu	37	17	78313928	78313928	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:78313928C>A	ENST00000582970.1	+	26	5904	c.5761C>A	c.(5761-5763)Cga>Aga	p.R1921R	RNF213_ENST00000508628.2_Silent_p.R1970R	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGCAGCACCGAGAAGACTA	0.607000													18	23					0.00498961	0.00520582	0.520397	1	0
RYR1	6261	broad.mit.edu	37	19	38976768	38976768	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:38976768C>T	ENST00000355481.4	+	34	5604	c.5473C>T	c.(5473-5475)Cac>Tac	p.H1825Y	RYR1_ENST00000360985.3_Missense_Mutation_p.H1825Y|RYR1_ENST00000359596.3_Missense_Mutation_p.H1825Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1825	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)	CGGTGGGCAGCACGCTCGCGA	0.687000													63	168					0	0	0.870114	0	0
OR5D13	390142	broad.mit.edu	37	11	55541467	55541467	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:55541467T>C	ENST00000361760.1	+	1	554	c.554T>C	c.(553-555)gTa>gCa	p.V185A		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GACCACTCTGTAATTGTTTCT	0.388000													33	204					0	0	0.769981	0	0
MMRN1	22915	broad.mit.edu	37	4	90857472	90857472	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:90857472A>T	ENST00000394980.1	+	7	2960	c.2641A>T	c.(2641-2643)Aaa>Taa	p.K881*	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Nonsense_Mutation_p.K623*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.K881*			Q13201	MMRN1_HUMAN	multimerin 1	881					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTTCAGTTAAAAAAGGCAG	0.358000													8	65					0	0	0.307466	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292863	4292863	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:4292863G>A	ENST00000301272.2	-	5	627	c.582C>T	c.(580-582)aaC>aaT	p.N194N	TMIGD2_ENST00000595645.1_Silent_p.N190N|TMIGD2_ENST00000600114.1_Silent_p.N74N|TMIGD2_ENST00000600349.1_Silent_p.N22N	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	194						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTATAGGACGTTGCTGTAGA	0.562000													24	134					0	0	0.750413	0	0
C9	735	broad.mit.edu	37	5	39341764	39341764	+	Silent	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:39341764A>G	ENST00000263408.4	-	3	317	c.222T>C	c.(220-222)aaT>aaC	p.N74N	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	74	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATCTTTTCCCATTAAATTGTC	0.443000													32	60					0	0	0.760397	0	0
ZNF833P	401898	broad.mit.edu	37	19	11762502	11762502	+	RNA	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:11762502G>C	ENST00000344893.3	+	0	514					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TGAATGTAAAGATGGTCAATG	0.343000													5	26					0	0	0.184627	0	0
ELFN2	114794	broad.mit.edu	37	22	37769205	37769205	+	Silent	SNP	G	G	A	rs148494870	by1000genomes	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:37769205G>A	ENST00000402918.1	-	3	3155	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	ELFN2_ENST00000349653.3_Silent_p.H790H|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	790						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCGCAGGGCGTGACCGGCGG	0.627000													10	118					0	0	0.361761	0	0
FAM124A	220108	broad.mit.edu	37	13	51826206	51826206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:51826206G>A	ENST00000322475.8	+	3	838	c.703G>A	c.(703-705)Gac>Aac	p.D235N	FAM124A_ENST00000280057.6_Missense_Mutation_p.D271N	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	235								p.D271N(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGTGCCCACCGACTCCTCCGT	0.602000													35	70					0	0	0.804634	0	0
PDZD2	23037	broad.mit.edu	37	5	31983677	31983677	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:31983677A>C	ENST00000438447.1	+	3	1281	c.893A>C	c.(892-894)gAt>gCt	p.D298A	PDZD2_ENST00000282493.3_Missense_Mutation_p.D298A			O15018	PDZD2_HUMAN	PDZ domain containing 2	298					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCAAAGACAGATGCTCCTCTG	0.517000													38	188					0	0	0.819951	0	0
CACNG8	59283	broad.mit.edu	37	19	54483190	54483190	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:54483190T>G	ENST00000270458.2	+	3	540	c.437T>G	c.(436-438)gTg>gGg	p.V146G		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	146					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V146G(2)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGTGTGTGCGTGGCGGCCTCC	0.647000													6	23					0	0	0.248553	0	0
GRM8	2918	broad.mit.edu	37	7	126173263	126173263	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:126173263A>T	ENST00000339582.2	-	9	2981	c.2173T>A	c.(2173-2175)Tat>Aat	p.Y725N	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.Y725N|GRM8_ENST00000444921.2_Missense_Mutation_p.Y725N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	725					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGCTCTCCATAGTCAATGATG	0.502000										HNSCC(24;0.065)			20	45					0	0	0.654019	0	0
USH1C	10083	broad.mit.edu	37	11	17547981	17547981	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:17547981C>A	ENST00000005226.7	-	8	586	c.587G>T	c.(586-588)cGa>cTa	p.R196L	USH1C_ENST00000527720.1_Missense_Mutation_p.R165L|USH1C_ENST00000527020.1_Missense_Mutation_p.R196L|USH1C_ENST00000318024.4_Missense_Mutation_p.R196L	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	196					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CAGGCTGCCTCGCACGCCCTG	0.597000													4	41					0.00024832	0.000263472	0.150653	1	0
CFHR5	81494	broad.mit.edu	37	1	196973835	196973835	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:196973835G>C	ENST00000367414.5	+	9	1503	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H	CFHR5_ENST00000256785.4_Missense_Mutation_p.D459H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	459	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TAACAATGGAGATACCACCTC	0.398000													56	191					0	0	0.870114	0	0
KCNV2	169522	broad.mit.edu	37	9	2718222	2718222	+	Silent	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:2718222C>G	ENST00000382082.3	+	1	721	c.483C>G	c.(481-483)gtC>gtG	p.V161V		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	161						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TCCAGCTGGTCTACAATTTCT	0.642000													6	29					0	0	0.248553	0	0
SI	6476	broad.mit.edu	37	3	164700056	164700056	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:164700056G>A	ENST00000264382.3	-	47	5452	c.5390C>T	c.(5389-5391)cCt>cTt	p.P1797L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1797	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCATTAAAAGGAAGCGAATT	0.358000										HNSCC(35;0.089)			33	89					0	0	0.779181	0	0
SVIL	6840	broad.mit.edu	37	10	29822126	29822126	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:29822126C>A	ENST00000375398.2	-	10	1619	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.E390D			O95425	SVIL_HUMAN	supervillin	390					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCCAGCTACACTCAGATGCAT	0.562000													32	87					2.20262e-25	2.8846e-25	0.769981	1	0
ZNF440	126070	broad.mit.edu	37	19	11943025	11943025	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:11943025G>A	ENST00000304060.5	+	4	1198	c.1034G>A	c.(1033-1035)tGt>tAt	p.C345Y		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTAAGATATGTGGAAAAGAC	0.363000													17	70					0	0	0.500413	0	0
ABCA10	10349	broad.mit.edu	37	17	67218723	67218723	+	Silent	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:67218723A>G	ENST00000269081.4	-	5	1059	c.150T>C	c.(148-150)ttT>ttC	p.F50F	ABCA10_ENST00000432313.2_Silent_p.F50F|ABCA10_ENST00000423818.2_Silent_p.F50F|ABCA10_ENST00000416101.2_Silent_p.F50F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	50					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATCCCCAATTAAACTTCAGGC	0.333000													91	106					0	0	0.870114	0	0
RETSAT	54884	broad.mit.edu	37	2	85581597	85581597	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:85581597G>A	ENST00000295802.4	-	1	146	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	RETSAT_ENST00000263854.6_Silent_p.L12L|RETSAT_ENST00000457495.2_Silent_p.L12L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	12					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.L12L(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GCCAGCAGCAGCACAGCCAGG	0.622000													31	59					0	0	0.769981	0	0
CARD14	79092	broad.mit.edu	37	17	78175565	78175565	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:78175565C>T	ENST00000573882.1	+	16	2410	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L	RP11-334C17.5_ENST00000576824.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.P625L|CARD14_ENST00000392434.2_Intron|CARD14_ENST00000570421.1_Missense_Mutation_p.P625L|RP11-334C17.5_ENST00000573346.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	625	PDZ.			DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).	activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCTCAGAGCCCTTGTTCAAG	0.597000													4	104					0	0	0.150653	0	0
IMPAD1	54928	broad.mit.edu	37	8	57890701	57890701	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:57890701T>G	ENST00000262644.4	-	3	812	c.554A>C	c.(553-555)gAt>gCt	p.D185A		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	185						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CTTTCGAAGATCCTCTATGAG	0.313000													12	349					0	0	0.457914	0	0
OR1B1	347169	broad.mit.edu	37	9	125391138	125391138	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:125391138C>A	ENST00000304833.3	-	1	714	c.677G>T	c.(676-678)cGa>cTa	p.R226L	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GGCCCCAATTCGGACATAAGA	0.542000													19	64					2.94398e-08	3.40025e-08	0.557998	1	0
IRX6	79190	broad.mit.edu	37	16	55362806	55362806	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:55362806C>T	ENST00000290552.7	+	5	2248	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	306						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCGATTGGAGCGCAGGGAGTG	0.662000													8	127					0	0	0.278610	0	0
ATXN2L	11273	broad.mit.edu	37	16	28840776	28840776	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:28840776G>T	ENST00000336783.4	+	7	963	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L	ATXN2L_ENST00000570200.1_Missense_Mutation_p.V266L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.V266L|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V266L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V266L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V266L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.V266L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	266						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAACTACGGTGTGAAGACTAC	0.463000													23	79					1.10513e-12	1.34594e-12	0.624587	1	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806588	27806588	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:27806588A>G	ENST00000606613.1	+	1	210	c.149A>G	c.(148-150)cAc>cGc	p.H50R	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.H50R			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	50					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AAGCAGGTCCACCCCGACACC	0.597000													89	305					0	0	0.870114	0	0
FAM179B	23116	broad.mit.edu	37	14	45431656	45431656	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:45431656T>A	ENST00000361462.2	+	1	215	c.32T>A	c.(31-33)cTg>cAg	p.L11Q	FAM179B_ENST00000382233.2_Missense_Mutation_p.L11Q|FAM179B_ENST00000361577.3_Missense_Mutation_p.L11Q			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	11							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTGCTTCTGCTGCCGCCCTTT	0.612000													4	49					0	0	0.248553	0	0
PRRG1	5638	broad.mit.edu	37	X	37285132	37285132	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:37285132G>A	ENST00000542554.1	+	4	322	c.50G>A	c.(49-51)cGc>cAc	p.R17H	PRRG1_ENST00000463135.1_Missense_Mutation_p.R17H|PRRG1_ENST00000378628.4_Missense_Mutation_p.R17H|PRRG1_ENST00000449135.2_Missense_Mutation_p.R17H|TM4SF2_ENST00000465127.1_Missense_Mutation_p.R17H|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000543642.1_Missense_Mutation_p.R17H	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	17						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						ATATTAAAACGCTACCCAAGA	0.358000													4	51					0	0	0.150653	0	0
CRB1	23418	broad.mit.edu	37	1	197396747	197396747	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:197396747T>A	ENST00000367397.1	+	3	1293	c.435T>A	c.(433-435)cgT>cgA	p.R145R	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000535699.1_Silent_p.R695R|CRB1_ENST00000367400.3_Silent_p.R764R|CRB1_ENST00000544212.1_Silent_p.R245R|CRB1_ENST00000367399.2_Silent_p.R652R			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	764	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATATATCCGTGTCTGGCTAG	0.428000													21	57					0	0	0.624587	0	0
LFNG	3955	broad.mit.edu	37	7	2559807	2559807	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:2559807C>T	ENST00000222725.5	+	1	332	c.312C>T	c.(310-312)cgC>cgT	p.R104R	LFNG_ENST00000359574.3_Silent_p.R104R|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000338732.3_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	104				R -> A (in Ref. 3; AAF07187).	organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		gccacccgcgccccctggccg	0.726000													7	7					0	0	0.278610	0	0
YARS2	51067	broad.mit.edu	37	12	32903773	32903773	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:32903773T>A	ENST00000324868.8	-	3	1010	c.983A>T	c.(982-984)gAg>gTg	p.E328V		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	328					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ATGATCAATCTCTGGAAGGGG	0.423000													30	122					0	0	0.760397	0	0
PDZRN4	29951	broad.mit.edu	37	12	41961614	41961614	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:41961614G>A	ENST00000298919.7	+	9	1105	c.717G>A	c.(715-717)agG>agA	p.R239R	PDZRN4_ENST00000402685.2_Silent_p.R499R|PDZRN4_ENST00000539469.2_Silent_p.R241R			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	499	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGATGAAAGGAATGAATTCT	0.388000													21	78					0	0	0.575678	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764336	22764336	+	RNA	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:22764336G>A	ENST00000390299.2	+	0	129																											TGACGCAGCCGCCCTCAGTGT	0.582000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	205					0	0	0.870114	0	0
CAD	790	broad.mit.edu	37	2	27465288	27465288	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:27465288G>A	ENST00000264705.4	+	40	6377	c.6215G>A	c.(6214-6216)gGc>gAc	p.G2072D	CAD_ENST00000403525.1_Missense_Mutation_p.G2009D	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2072	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACTGTCAATGGCATGACGGTG	0.612000													3	47					0	0	0.115264	0	0
WDR24	84219	broad.mit.edu	37	16	739435	739435	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:739435C>A	ENST00000293883.4	-	1	965	c.206G>T	c.(205-207)cGc>cTc	p.R69L	WDR24_ENST00000248142.6_Missense_Mutation_p.R131L	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	131								p.R131H(1)|p.R69H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGAAGGCTTGCGCCCCACACG	0.602000													25	54					5.35047e-06	5.93864e-06	0.654019	1	0
FGF23	8074	broad.mit.edu	37	12	4479673	4479673	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:4479673G>A	ENST00000237837.1	-	3	737	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	198					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.R198W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGGTCATCCGGGCCCGGGGC	0.697000													12	50					0	0	0.387290	0	0
PAX3	5077	broad.mit.edu	37	2	223158889	223158889	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:223158889G>T	ENST00000350526.4	-	4	719	c.583C>A	c.(583-585)Cga>Aga	p.R195R	PAX3_ENST00000409828.3_Silent_p.R195R|PAX3_ENST00000409551.3_Silent_p.R194R|PAX3_ENST00000258387.5_Silent_p.R195R|PAX3_ENST00000344493.4_Silent_p.R195R|PAX3_ENST00000392069.2_Silent_p.R195R|PAX3_ENST00000392070.2_Silent_p.R195R|PAX3_ENST00000336840.6_Silent_p.R195R	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	195					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCTTACCTCGCTCGCTCAGG	0.612000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						20	176					2.37509e-13	2.92679e-13	0.592651	1	0
ATM	472	broad.mit.edu	37	11	108160406	108160406	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:108160406T>C	ENST00000278616.4	+	29	4699	c.4314T>C	c.(4312-4314)atT>atC	p.I1438I	ATM_ENST00000452508.2_Silent_p.I1438I	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1438					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGCACAGAATTCTTAAAATAT	0.318000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			9	102					0	0	0.335167	0	0
MCM2	4171	broad.mit.edu	37	3	127337882	127337882	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:127337882G>A	ENST00000265056.7	+	13	2270	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	676	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CGAGATGCTGGCCCGCTTCGT	0.632000													7	16					0	0	0.248553	0	0
CSDE1	7812	broad.mit.edu	37	1	115272925	115272925	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:115272925G>T	ENST00000438362.2	-	12	1826	c.1448C>A	c.(1447-1449)aCt>aAt	p.T483N	CSDE1_ENST00000369530.1_Missense_Mutation_p.T452N|CSDE1_ENST00000358528.4_Missense_Mutation_p.T437N|CSDE1_ENST00000261443.5_Missense_Mutation_p.T406N|CSDE1_ENST00000534699.1_Missense_Mutation_p.T437N|CSDE1_ENST00000530886.1_Missense_Mutation_p.T307N|CSDE1_ENST00000339438.6_Missense_Mutation_p.T406N	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	437	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGGAAAAAGTGGCTTCTTT	0.378000													15	186					2.32078e-09	2.71047e-09	0.479597	1	0
NPSR1	387129	broad.mit.edu	37	7	34724268	34724268	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:34724268C>T	ENST00000360581.1	+	2	380	c.252C>T	c.(250-252)acC>acT	p.T84T	NPSR1_ENST00000381542.1_Silent_p.T84T|NPSR1_ENST00000465305.1_Silent_p.T84T|NPSR1_ENST00000359791.1_Silent_p.T84T|NPSR1_ENST00000531252.1_Silent_p.T84T|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381539.3_Silent_p.T84T|NPSR1_ENST00000381553.3_Silent_p.T84T	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	84						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAAGAATGACCTTCTTTGTGA	0.418000													38	125					0	0	0.812448	0	0
PI15	51050	broad.mit.edu	37	8	75756223	75756223	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:75756223A>G	ENST00000260113.2	+	3	460	c.281A>G	c.(280-282)gAt>gGt	p.D94G	PI15_ENST00000523773.1_Missense_Mutation_p.D94G|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	94						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CAGGTTTGGGATGAAAATCTT	0.393000													46	187					0	0	0.870114	0	0
AKAP9	10142	broad.mit.edu	37	7	91709455	91709455	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:91709455G>C	ENST00000359028.2	+	32	8269	c.8044G>C	c.(8044-8046)Gaa>Caa	p.E2682Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E2682Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2670Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2682	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAAGATGTTGAAGTTCTCAA	0.323000			T	BRAF	papillary thyroid								8	32					0	0	0.278610	0	0
MTO1	25821	broad.mit.edu	37	6	74191953	74191953	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:74191953G>T	ENST00000498286.1	+	8	1728	c.1451G>T	c.(1450-1452)cGg>cTg	p.R484L	MTO1_ENST00000370300.4_Missense_Mutation_p.R509L|MTO1_ENST00000415954.2_Missense_Mutation_p.R524L|MTO1_ENST00000370305.1_Missense_Mutation_p.R435L			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	509					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GCTGACAGCCGGCTCACACTG	0.522000													18	64					1.45105e-14	1.80948e-14	0.539581	1	0
ATRNL1	26033	broad.mit.edu	37	10	117226686	117226686	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:117226686G>T	ENST00000355044.3	+	23	3546	c.3420G>T	c.(3418-3420)tcG>tcT	p.S1140S	ATRNL1_ENST00000423111.2_Silent_p.S191S|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1140						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTGGTAGTCGAACAAAAATC	0.274000													15	84					6.31663e-08	7.24214e-08	0.479597	1	0
NSUN5	55695	broad.mit.edu	37	7	72722501	72722501	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:72722501G>C	ENST00000428206.1	-	2	156	c.143C>G	c.(142-144)gCc>gGc	p.A48G	NSUN5_ENST00000310326.8_Missense_Mutation_p.A48G|NSUN5_ENST00000252594.6_Missense_Mutation_p.A48G|NSUN5_ENST00000438747.2_Missense_Mutation_p.A48G	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	48							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				ATCCAGCACGGCGGAGTAGCG	0.687000													23	78					0	0	0.639603	0	0
SLFN5	162394	broad.mit.edu	37	17	33586236	33586236	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:33586236T>G	ENST00000299977.4	+	2	675	c.527T>G	c.(526-528)tTt>tGt	p.F176C	SLFN5_ENST00000592325.1_Missense_Mutation_p.F176C|SLFN5_ENST00000542451.1_Missense_Mutation_p.F176C	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	176					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GCTGCTTTATTTGATAGAAAG	0.398000													65	168					0	0	0.870114	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55606107	55606107	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:55606107G>A	ENST00000263433.3	-	12	1529	c.1514C>T	c.(1513-1515)cCg>cTg	p.P505L	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.P431L|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.P505L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	505	Pro-rich.					cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TTCAGGCTCCGGAATCCTGGA	0.612000													8	11					0	0	0.307466	0	0
CCDC19	25790	broad.mit.edu	37	1	159850410	159850410	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:159850410T>C	ENST00000426543.2	-	8	1178	c.723A>G	c.(721-723)aaA>aaG	p.K241K	CCDC19_ENST00000368099.4_Silent_p.K326K|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	326						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCAGTTCTGCTTTCTGTTTCT	0.463000													47	163					0	0	0.870114	0	0
NKAIN3	286183	broad.mit.edu	37	8	63492237	63492237	+	Splice_Site	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:63492237T>C	ENST00000523211.1	+	2	324		c.e2+2		NKAIN3_ENST00000328472.5_Splice_Site|NKAIN3_ENST00000519049.1_Splice_Site	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3							integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ATAATGGTGGTAAGTCTTATT	0.323000													29	75					0	0	0.706142	0	0
MC3R	4159	broad.mit.edu	37	20	54824142	54824142	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:54824142G>A	ENST00000243911.2	+	1	355	c.243G>A	c.(241-243)gcG>gcA	p.A81A		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	118			V -> I (have ligand binding and signaling properties similar to wild-type; dbSNP:rs3827103).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GCAGCCTGGCGGTGGCCGACA	0.567000													6	85					0	0	0.217242	0	0
IQCC	55721	broad.mit.edu	37	1	32671827	32671827	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:32671827G>A	ENST00000537469.1	+	2	402	c.355G>A	c.(355-357)Gag>Aag	p.E119K	IQCC_ENST00000291358.6_Missense_Mutation_p.E39K|RP4-622L5.7_ENST00000421616.1_RNA	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	39										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATTGTACGAGAGGTCGAGGG	0.612000													56	140					0	0	0.870114	0	0
KTI12	112970	broad.mit.edu	37	1	52499375	52499375	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:52499375T>C	ENST00000371614.1	-	1	113	c.59A>G	c.(58-60)gAg>gGg	p.E20G	TXNDC12_ENST00000472624.1_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	20							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CACGCGCAACTCTTCAGCACG	0.682000													5	23					0	0	0.278610	0	0
CDK14	5218	broad.mit.edu	37	7	90419941	90419941	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:90419941G>T	ENST00000406263.1	+	4	822	c.380G>T	c.(379-381)gGg>gTg	p.G127V	CDK14_ENST00000436577.2_Missense_Mutation_p.G44V|CDK14_ENST00000380050.3_Missense_Mutation_p.G173V|CDK14_ENST00000265741.3_Missense_Mutation_p.G155V			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	173					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GAAGAAGAAGGGACACCTTTC	0.403000													21	87					1.9806e-07	2.24611e-07	0.624587	1	0
THSD7B	80731	broad.mit.edu	37	2	138169326	138169326	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:138169326G>A	ENST00000409968.1	+	14	3021	c.2843G>A	c.(2842-2844)cGa>cAa	p.R948Q	THSD7B_ENST00000413152.2_Missense_Mutation_p.R917Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R948Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGCCTCACCGAGGACTGCGG	0.488000													6	150					0	0	0.278610	0	0
TTC17	55761	broad.mit.edu	37	11	43513568	43513568	+	Splice_Site	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:43513568A>T	ENST00000039989.4	+	23	3164		c.e23-1			NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17								binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCTTCTCCCAGGATGTGCCC	0.468000													113	267					0	0	0.870114	0	0
XPR1	9213	broad.mit.edu	37	1	180780558	180780558	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:180780558A>T	ENST00000367590.4	+	7	895	c.697A>T	c.(697-699)Act>Tct	p.T233S	XPR1_ENST00000367589.3_Missense_Mutation_p.T233S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	233						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACCAGCATGGACTACTTTTAG	0.328000													49	135					0	0	0.870114	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515572	140515572	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:140515572G>A	ENST00000231134.5	+	1	773	c.556G>A	c.(556-558)Gga>Aga	p.G186R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		186	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATAATCGCGGAGATGGCAG	0.517000													23	66					0	0	0.639603	0	0
NLRP8	126205	broad.mit.edu	37	19	56466303	56466303	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:56466303T>A	ENST00000291971.3	+	3	950	c.879T>A	c.(877-879)tcT>tcA	p.S293S	NLRP8_ENST00000590542.1_Silent_p.S293S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	293	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCTCACATCTACCCTCATTG	0.507000													52	229					0	0	0.870114	0	0
RYR2	6262	broad.mit.edu	37	1	237993869	237993869	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:237993869G>A	ENST00000366574.2	+	103	15012	c.14695G>A	c.(14695-14697)Gac>Aac	p.D4899N	RYR2_ENST00000360064.6_Missense_Mutation_p.D4905N|RYR2_ENST00000542537.1_Missense_Mutation_p.D4883N|RYR2_ENST00000462585.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4899					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATTACTTCGACACAGTGCC	0.418000													56	199					0	0	0.870114	0	0
DNAAF1	123872	broad.mit.edu	37	16	84188370	84188370	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:84188370A>T	ENST00000378553.5	+	4	665	c.541A>T	c.(541-543)Agc>Tgc	p.S181C	DNAAF1_ENST00000334315.5_Missense_Mutation_p.S181C	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	181					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TCTTAACCTCAGCAACAATTA	0.473000													35	102					0	0	0.788014	0	0
LPHN2	23266	broad.mit.edu	37	1	82436043	82436043	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:82436043G>A	ENST00000370728.1	+	18	3412	c.2767G>A	c.(2767-2769)Gca>Aca	p.A923T	LPHN2_ENST00000335786.5_Missense_Mutation_p.A923T|LPHN2_ENST00000370721.1_Missense_Mutation_p.A848T|LPHN2_ENST00000370723.1_Missense_Mutation_p.A910T|LPHN2_ENST00000370715.1_Missense_Mutation_p.A910T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.A923T|LPHN2_ENST00000370717.2_Missense_Mutation_p.A923T|LPHN2_ENST00000370727.1_Missense_Mutation_p.A923T|LPHN2_ENST00000370730.1_Missense_Mutation_p.A923T|LPHN2_ENST00000370713.1_Missense_Mutation_p.A910T|LPHN2_ENST00000271029.4_Missense_Mutation_p.A923T|LPHN2_ENST00000359929.3_Missense_Mutation_p.A910T|LPHN2_ENST00000394879.1_Missense_Mutation_p.A910T|LPHN2_ENST00000319517.6_Missense_Mutation_p.A910T			O95490	LPHN2_HUMAN	latrophilin 2	923					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTCTTTTTGGCAGCTTTTGC	0.358000													75	254					0	0	0.870114	0	0
BAGE2	85319	broad.mit.edu	37	21	11098727	11098727	+	RNA	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr21:11098727C>A	ENST00000470054.1	-	0	198									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tcttactgctccggccgccat	0.627000													20	62					3.5997e-14	4.47105e-14	0.624587	1	0
CPQ	10404	broad.mit.edu	37	8	97797214	97797214	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:97797214A>T	ENST00000220763.5	+	2	299	c.89A>T	c.(88-90)aAg>aTg	p.K30M		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	30					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GGCATCTCTAAGAGGACTTTT	0.393000													78	191					0	0	0.870114	0	0
XIRP2	129446	broad.mit.edu	37	2	168103683	168103683	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:168103683G>T	ENST00000409195.1	+	9	5870	c.5781G>T	c.(5779-5781)agG>agT	p.R1927S	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1705S|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1927S|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1752					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATCACTAAGGTCTTTGAAAG	0.363000													19	45					2.35188e-11	2.8313e-11	0.539581	1	0
METTL16	79066	broad.mit.edu	37	17	2318695	2318695	+	RNA	SNP	G	G	A	rs4790335	by1000genomes	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:2318695G>A	ENST00000571332.1	-	0	684					NR_028335.1																						AGCAACACACGACATGCATGG	0.463000													5	106					0	0	0.184627	0	0
ST18	9705	broad.mit.edu	37	8	53085133	53085133	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:53085133C>A	ENST00000276480.7	-	10	971	c.288G>T	c.(286-288)atG>atT	p.M96I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	96						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TAGGTTTTATCATGATTTCCT	0.318000													29	67					1.88708e-17	2.40105e-17	0.729181	1	0
ERAL1	26284	broad.mit.edu	37	17	27185506	27185506	+	Splice_Site	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:27185506T>C	ENST00000254928.5	+	6	808		c.e6+2			NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1						ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ATGAACAAGGTGAGCACTACC	0.547000													62	155					0	0	0.870114	0	0
THAP4	51078	broad.mit.edu	37	2	242576355	242576355	+	Splice_Site	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:242576355C>A	ENST00000407315.1	-	1	509		c.e1+1			NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4								DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		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;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ggcccgcgTACCTGTGGAAGG	0.786000													3	6					6.4e-05	6.90759e-05	0.115264	1	0
CCDC116	164592	broad.mit.edu	37	22	21989393	21989393	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:21989393G>A	ENST00000292779.3	+	4	1202	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	347										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CAGATCTGCCGCCTCTGGGCT	0.642000													14	46					0	0	0.457914	0	0
FLG	2312	broad.mit.edu	37	1	152277527	152277527	+	Missense_Mutation	SNP	C	C	T	rs115482787		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:152277527C>T	ENST00000368799.1	-	3	9870	c.9835G>A	c.(9835-9837)Gca>Aca	p.A3279T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3279	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A3279T(1)		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)			GAAGTCTCTGCGTGACGAGTG	0.602000									Ichthyosis				51	573					0	0	0.870114	0	0
DMBX1	127343	broad.mit.edu	37	1	46976315	46976315	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:46976315G>A	ENST00000371956.4	+	2	352	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	DMBX1_ENST00000360032.3_Missense_Mutation_p.A108T	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	113	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCTGCCTGAGGCCCGGGTGCA	0.602000													38	49					0	0	0.853193	0	0
CSMD3	114788	broad.mit.edu	37	8	113395804	113395804	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:113395804C>A	ENST00000297405.5	-	37	6267	c.6023G>T	c.(6022-6024)aGc>aTc	p.S2008I	CSMD3_ENST00000343508.3_Missense_Mutation_p.S1968I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1904I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1938I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2008	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCTGAATAGCTTCCAAGTCT	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	129					1.00905e-13	1.24835e-13	0.575678	1	0
ZNF695	57116	broad.mit.edu	37	1	247163376	247163376	+	Splice_Site	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:247163376C>T	ENST00000339986.7	-	2	151	c.3_splice	c.e2-1	p.G2_splice	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Splice_Site_p.G2_splice	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	2					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCCAATAGTCCCTGAAAAAGA	0.453000													22	52					0	0	0.654019	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49340739	49340739	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:49340739T>G	ENST00000263265.6	-	20	2702	c.2147A>C	c.(2146-2148)cAg>cCg	p.Q716P	PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	716						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGGGTCTCCTGGCGCGTGGG	0.667000													27	80					0	0	0.706142	0	0
ERG	2078	broad.mit.edu	37	21	39755448	39755448	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr21:39755448G>A	ENST00000442448.1	-	11	1537	c.1266C>T	c.(1264-1266)ccC>ccT	p.P422P	ERG_ENST00000398911.1_Silent_p.P422P|ERG_ENST00000288319.7_Silent_p.P439P|ERG_ENST00000398907.1_Silent_p.P416P|ERG_ENST00000398919.2_Silent_p.P446P|ERG_ENST00000417133.2_Silent_p.P446P|ERG_ENST00000398897.1_Silent_p.P323P|ERG_ENST00000453032.2_Silent_p.P347P|ERG_ENST00000398910.1_Silent_p.P423P|ERG_ENST00000398905.1_Silent_p.P415P	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	446					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AAGATGTCACGGGGAGGGCTG	0.552000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								18	40					0	0	0.557998	0	0
GPR141	353345	broad.mit.edu	37	7	37780085	37780085	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:37780085C>T	ENST00000447769.1	+	4	379	c.90C>T	c.(88-90)ggC>ggT	p.G30G	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.G30G			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	30						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G30G(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTTATTGGCGGGCTGGTGG	0.507000													54	142					0	0	0.870114	0	0
NAV1	89796	broad.mit.edu	37	1	201758873	201758873	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:201758873G>A	ENST00000367296.4	+	11	3592	c.3172G>A	c.(3172-3174)Ggc>Agc	p.G1058S	NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367302.1_Missense_Mutation_p.G1014S|NAV1_ENST00000367300.3_Missense_Mutation_p.G1001S|NAV1_ENST00000367297.4_Missense_Mutation_p.G1058S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.G667S|NAV1_ENST00000295624.6_Missense_Mutation_p.G1058S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1058					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTCAGTTCACGGCTCAGTGCT	0.517000													12	148					0	0	0.435327	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44201936	44201936	+	Translation_Start_Site	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:44201936G>T	ENST00000262915.3	+	2	180	c.3G>T	c.(1-3)atG>atT	p.M1I	ST3GAL3_ENST00000372368.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000351035.3_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531993.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000347631.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361392.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000335430.6_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531451.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000330208.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372369.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000528371.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372372.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372377.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000332628.6_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372374.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372362.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372375.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372365.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531816.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361400.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361746.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372366.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361812.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000545417.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372367.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000353126.3_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000533933.1_Start_Codon_SNP_p.M1I	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	1					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				ATGTGAAGATGGGACTCTTGG	0.378000													71	298					2.36143e-25	3.0797e-25	0.870114	1	0
GPATCH4	54865	broad.mit.edu	37	1	156565514	156565514	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:156565514G>C	ENST00000368232.4	-	8	736	c.604C>G	c.(604-606)Ccc>Gcc	p.P202A	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000438976.2_Missense_Mutation_p.P207A	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	202						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTTTTTGGGGGGCTTGCTC	0.547000													30	148					0	0	0.760397	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75557691	75557691	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:75557691C>T	ENST00000300576.5	+	9	685	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	229										ovary(1)	1						CCAGCTAGAGCGGGACGAATA	0.552000													67	399					0	0	0.870114	0	0
DTNA	1837	broad.mit.edu	37	18	32345948	32345948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr18:32345948C>T	ENST00000283365.9	+	4	442	c.91C>T	c.(91-93)Cga>Tga	p.R31*	DTNA_ENST00000399113.3_Nonsense_Mutation_p.R31*|DTNA_ENST00000554864.3_Nonsense_Mutation_p.R31*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000315456.6_Nonsense_Mutation_p.R31*|DTNA_ENST00000596745.1_Nonsense_Mutation_p.R31*|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000399121.5_Nonsense_Mutation_p.R31*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.R31*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.R31*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000348997.5_Nonsense_Mutation_p.R31*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.R31*	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	31	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGATCGCATCCGACTCTCCAC	0.408000													8	77					0	0	0.278610	0	0
MUC16	94025	broad.mit.edu	37	19	9062982	9062982	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:9062982C>A	ENST00000397910.4	-	3	24667	c.24464G>T	c.(24463-24465)aGg>aTg	p.R8155M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8157	Ser-rich.|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						GACTTCTGTCCTGGAGACTTC	0.547000													30	140					2.46105e-21	3.1963e-21	0.750413	1	0
ITM2A	9452	broad.mit.edu	37	X	78616844	78616844	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:78616844G>T	ENST00000434584.2	-	4	889	c.553C>A	c.(553-555)Cgc>Agc	p.R185S	ITM2A_ENST00000373298.2_Missense_Mutation_p.R229S|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	229	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGTCTCTGCGACGAAGGCGG	0.438000													31	40					3.90053e-15	4.88346e-15	0.760397	1	0
RYBP	23429	broad.mit.edu	37	3	72495696	72495696	+	Nonstop_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:72495696C>A	ENST00000477973.1	-	1	373	c.374G>T	c.(373-375)tGa>tTa	p.*125L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TTAAAGGCTTCAGCACTGTTT	0.468000													4	24					0.000602214	0.000634657	0.184627	1	0
TUBB6	84617	broad.mit.edu	37	18	12325643	12325643	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr18:12325643C>A	ENST00000317702.5	+	4	1089	c.855C>A	c.(853-855)acC>acA	p.T285T	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	285					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GGGCCCTGACCGTGCCCGAGC	0.687000													13	38					0.000132079	0.000141095	0.575678	1	0
ANKRD40	91369	broad.mit.edu	37	17	48777946	48777946	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:48777946A>G	ENST00000285243.6	-	2	535	c.266T>C	c.(265-267)aTc>aCc	p.I89T		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	89										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			AATCTTCCTGATTTCTCTCCT	0.418000													46	130					0	0	0.870114	0	0
PKD1	5310	broad.mit.edu	37	16	2164578	2164578	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:2164578C>A	ENST00000262304.4	-	11	2654	c.2446G>T	c.(2446-2448)Gac>Tac	p.D816Y	PKD1_ENST00000423118.1_Missense_Mutation_p.D816Y	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	816	PKD 2.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAGACCACGTCAAAGCTGCAG	0.682000													6	8					0.00198382	0.00207671	0.248553	1	0
NUDT21	11051	broad.mit.edu	37	16	56481815	56481815	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:56481815C>G	ENST00000300291.5	-	2	375	c.203G>C	c.(202-204)aGg>aCg	p.R68T		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	68	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						AAATTCTTCCCTCATGCGCTG	0.473000													7	122					0	0	0.248553	0	0
RP1	6101	broad.mit.edu	37	8	55540810	55540810	+	Silent	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:55540810A>G	ENST00000220676.1	+	4	4516	c.4368A>G	c.(4366-4368)acA>acG	p.T1456T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1456					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAGCATGACATCAAGTGAAA	0.373000													35	114					0	0	0.779181	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134064	91134064	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:91134064C>A	ENST00000373094.1	+	2	3670	c.2825C>A	c.(2824-2826)gCc>gAc	p.A942D	PCDH11X_ENST00000395337.2_Missense_Mutation_p.A942D|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A942D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A942D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A942D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	942					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACAAATCTGCCTCTCCACAG	0.478000													71	87					1.63007e-36	2.18976e-36	0.870114	1	0
ULK4	54986	broad.mit.edu	37	3	41439704	41439704	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:41439704T>C	ENST00000301831.4	-	35	4006	c.3544A>G	c.(3544-3546)Ata>Gta	p.I1182V		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1182							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGAACCAGTATAGACAGGCAC	0.393000													28	105					0	0	0.693898	0	0
COL6A5	256076	broad.mit.edu	37	3	130095187	130095187	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:130095187A>T	ENST00000265379.6	+	3	669	c.175A>T	c.(175-177)Agt>Tgt	p.S59C	COL6A5_ENST00000432398.2_Missense_Mutation_p.S59C			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	59	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AATGATCAACAGTCTCCCCAT	0.502000													31	59					0	0	0.729181	0	0
PXDNL	137902	broad.mit.edu	37	8	52321119	52321119	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:52321119A>C	ENST00000356297.4	-	17	3165	c.3065T>G	c.(3064-3066)cTg>cGg	p.L1022R	PXDNL_ENST00000543296.1_Missense_Mutation_p.L1022R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1022					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGGTCCCCCAGGACCTTAGG	0.562000													6	17					0	0	0.217242	0	0
ETNPPL	64850	broad.mit.edu	37	4	109681435	109681435	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:109681435C>T	ENST00000296486.3	-	2	238	c.84G>A	c.(82-84)tcG>tcA	p.S28S	ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000411864.2_Silent_p.S28S|ETNPPL_ENST00000510706.1_5'UTR	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TGATGGGATCCGATGCAAAGA	0.428000													55	130					0	0	0.870114	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44201937	44201937	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:44201937G>T	ENST00000262915.3	+	2	181	c.4G>T	c.(4-6)Gga>Tga	p.G2*	ST3GAL3_ENST00000372368.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000351035.3_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531993.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000347631.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361392.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000335430.6_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531451.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000330208.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372369.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000528371.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372372.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372377.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000332628.6_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372374.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372362.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372375.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372365.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531816.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361400.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361746.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372366.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361812.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000545417.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372367.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000353126.3_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000533933.1_Nonsense_Mutation_p.G2*	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	2					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TGTGAAGATGGGACTCTTGGT	0.378000													75	299					2.141e-25	2.81568e-25	0.870114	1	0
HINFP	25988	broad.mit.edu	37	11	119003216	119003216	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:119003216C>G	ENST00000350777.2	+	6	750	c.687C>G	c.(685-687)ttC>ttG	p.F229L	HINFP_ENST00000527410.1_Missense_Mutation_p.F229L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	229					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCAGCACTTCCAGTGTTCTC	0.592000													35	73					0	0	0.796494	0	0
ADCK2	90956	broad.mit.edu	37	7	140380909	140380909	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:140380909G>C	ENST00000072869.4	+	4	1455	c.1277G>C	c.(1276-1278)cGg>cCg	p.R426P	ADCK2_ENST00000476491.1_Missense_Mutation_p.R426P	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	426	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AAGATTGCACGGCTGGGGATC	0.562000													18	49					0	0	0.539581	0	0
FLG	2312	broad.mit.edu	37	1	152282662	152282662	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:152282662C>A	ENST00000368799.1	-	3	4735	c.4700G>T	c.(4699-4701)cGg>cTg	p.R1567L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1567	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1567Q(1)		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)			GCTGCCGGCCCGAGTGGAAGG	0.582000									Ichthyosis				79	321					1.49228e-48	2.02201e-48	0.870114	1	0
LOC100294341	100294341	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													3	44					0	0	0.115264	0	0
MRC2	9902	broad.mit.edu	37	17	60759630	60759630	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:60759630G>T	ENST00000303375.5	+	20	3240	c.2838G>T	c.(2836-2838)ttG>ttT	p.L946F	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	946	C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGACAGCCTTGCCCTACATCT	0.657000													14	12					1.05317e-09	1.24393e-09	0.457914	1	0
CTBP2	1488	broad.mit.edu	37	10	126715459	126715459	+	Silent	SNP	G	G	T	rs111660964		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:126715459G>T	ENST00000309035.6	-	1	1000	c.870C>A	c.(868-870)ctC>ctA	p.L290L	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGAACTCAGGGAGCACGGTCC	0.652000													20	77					2.4624e-09	2.86517e-09	0.575678	1	0
EPHA3	2042	broad.mit.edu	37	3	89521735	89521735	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:89521735A>G	ENST00000336596.2	+	16	3037	c.2812A>G	c.(2812-2814)Agt>Ggt	p.S938G	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	938	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTGGAGTACAGTTCTTGTGA	0.408000										TSP Lung(6;0.00050)			28	124					0	0	0.693898	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95197554	95197554	+	Missense_Mutation	SNP	G	G	C	rs150935622		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:95197554G>C	ENST00000354268.4	+	15	1946	c.1873G>C	c.(1873-1875)Gca>Cca	p.A625P	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.A195P|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.A625P			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	625	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ACTTAATTACGCAATTTTTGA	0.383000													21	79					0	0	0.592651	0	0
MAGI1	9223	broad.mit.edu	37	3	65350391	65350391	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:65350391G>A	ENST00000330909.8	-	21	3383	c.3384C>T	c.(3382-3384)acC>acT	p.T1128T	MAGI1_ENST00000483466.1_Silent_p.T1129T|MAGI1_ENST00000497477.2_Silent_p.T1033T|MAGI1_ENST00000402939.2_Silent_p.T1100T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1129	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCTTTGGTTTGGTGGTATTCC	0.393000													29	97					0	0	0.706142	0	0
FLG	2312	broad.mit.edu	37	1	152277524	152277524	+	Missense_Mutation	SNP	C	C	G	rs143421504		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:152277524C>G	ENST00000368799.1	-	3	9873	c.9838G>C	c.(9838-9840)Gag>Cag	p.E3280Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3280	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)			GAGGAAGTCTCTGCGTGACGA	0.602000									Ichthyosis				64	581					0	0	0.870114	0	0
APAF1	317	broad.mit.edu	37	12	99056498	99056498	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:99056498A>G	ENST00000357310.1	+	7	1446	c.869A>G	c.(868-870)aAa>aGa	p.K290R	APAF1_ENST00000547045.1_Missense_Mutation_p.K290R|APAF1_ENST00000552268.1_Missense_Mutation_p.K290R|APAF1_ENST00000359972.2_Missense_Mutation_p.K279R|APAF1_ENST00000551964.1_Missense_Mutation_p.K290R|APAF1_ENST00000333991.1_Missense_Mutation_p.K290R|APAF1_ENST00000550527.1_Missense_Mutation_p.K279R|APAF1_ENST00000339433.3_Missense_Mutation_p.K290R|APAF1_ENST00000549007.1_Missense_Mutation_p.K290R	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	290	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GGAAAGGAAAAAGGACTTGAA	0.313000													20	82					0	0	0.557998	0	0
LIFR	3977	broad.mit.edu	37	5	38484967	38484967	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:38484967A>T	ENST00000263409.4	-	18	2663	c.2501T>A	c.(2500-2502)gTg>gAg	p.V834E	LIFR_ENST00000453190.2_Missense_Mutation_p.V834E	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	834					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AATTAATCCCACAGCTGAAAC	0.368000			T	PLAG1	salivary adenoma								24	18					0	0	0.750413	0	0
NAV3	89795	broad.mit.edu	37	12	78511822	78511822	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:78511822G>A	ENST00000397909.2	+	14	2958	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K	NAV3_ENST00000228327.6_Missense_Mutation_p.E929K|NAV3_ENST00000266692.7_Missense_Mutation_p.E929K|NAV3_ENST00000536525.2_Missense_Mutation_p.E929K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	929						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACAGATTCAGAGAAACGCTC	0.378000										HNSCC(70;0.22)			40	186					0	0	0.840704	0	0
PPFIA2	8499	broad.mit.edu	37	12	81768486	81768486	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:81768486T>A	ENST00000550584.2	-	10	1488	c.1193A>T	c.(1192-1194)cAg>cTg	p.Q398L	PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q398L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q380L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q398L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q245L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q380L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q398L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q324L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q299L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	324										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTCATGGTCTGCTGCAACTT	0.463000													42	109					0	0	0.840704	0	0
TFB2M	64216	broad.mit.edu	37	1	246704441	246704441	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:246704441T>C	ENST00000366514.4	-	8	1268	c.1083A>G	c.(1081-1083)aaA>aaG	p.K361K		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	361					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TGTTAACTACTTTCTCATCCT	0.353000													8	111					0	0	0.278610	0	0
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	12					0	0	0.557998	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64582637	64582637	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:64582637G>A	ENST00000498707.1	-	27	4390	c.4048C>T	c.(4048-4050)Cgg>Tgg	p.R1350W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1322W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1350	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAACACGCCGCTGGGATCCG	0.498000													24	73					0	0	0.706142	0	0
SHE	126669	broad.mit.edu	37	1	154459001	154459001	+	Splice_Site	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:154459001A>T	ENST00000304760.2	-	4	1268		c.e4+1			NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E											breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGGAGACTCACGGCTGCTTC	0.537000													27	111					0	0	0.812448	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377302	138377302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:138377302G>T	ENST00000356818.2	+	4	1495	c.946G>T	c.(946-948)Gag>Tag	p.E316*	PPP1R26_ENST00000605286.1_Nonsense_Mutation_p.E316*|PPP1R26_ENST00000401470.3_Nonsense_Mutation_p.E316*|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Nonsense_Mutation_p.E316*|PPP1R26_ENST00000604351.1_Nonsense_Mutation_p.E316*	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	316						nucleolus	protein binding										GCAGGAGAACGAGGGCAGCAC	0.602000													21	124					1.2644e-06	1.40855e-06	0.592651	1	0
EDAR	10913	broad.mit.edu	37	2	109527277	109527277	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:109527277C>T	ENST00000409271.1	-	8	1224	c.781G>A	c.(781-783)Gtg>Atg	p.V261M	EDAR_ENST00000376651.1_Missense_Mutation_p.V261M|EDAR_ENST00000258443.2_Missense_Mutation_p.V229M			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	229					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TGGGCCTCCACGCTCTTCCCC	0.632000													6	64					0	0	0.217242	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19725001	19725001	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:19725001C>G	ENST00000397821.3	-	4	678	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E130Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E93Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	130	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCGCTTACCTCTCCTACCACC	0.582000													17	25					0	0	0.539581	0	0
LRP1B	53353	broad.mit.edu	37	2	141643801	141643801	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141643801T>A	ENST00000389484.3	-	24	4841	c.3870A>T	c.(3868-3870)acA>acT	p.T1290T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1290					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAGTGCTATTGTGTTTCTCA	0.358000										TSP Lung(27;0.18)			34	95					0	0	0.796494	0	0
HELZ2	85441	broad.mit.edu	37	20	62197377	62197377	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:62197377C>T	ENST00000467148.1	-	8	2867	c.2798G>A	c.(2797-2799)cGt>cAt	p.R933H	HELZ2_ENST00000427522.2_Missense_Mutation_p.R364H	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CACGCACTCACGGATGAAGCT	0.701000													4	12					0	0	0.150653	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021898	51021898	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:51021898G>T	ENST00000599957.1	-	3	1269	c.1072C>A	c.(1072-1074)Cat>Aat	p.H358N	LRRC4B_ENST00000389201.3_Missense_Mutation_p.H358N			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	358	LRRCT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGGTGAAATGCGACTGGTCC	0.667000													16	51					2.48551e-13	3.05084e-13	0.520397	1	0
FOXP3	50943	broad.mit.edu	37	X	49107877	49107877	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:49107877A>C	ENST00000376207.4	-	12	1401	c.1214T>G	c.(1213-1215)gTg>gGg	p.V405G	FOXP3_ENST00000376199.2_Missense_Mutation_p.V370G|FOXP3_ENST00000376197.1_Missense_Mutation_p.V415G|FOXP3_ENST00000518685.1_Missense_Mutation_p.V370G|FOXP3_ENST00000455775.2_Missense_Mutation_p.V378G|FOXP3_ENST00000557224.1_Missense_Mutation_p.V430G	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	405					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CACGGTCCACACAGCCCCCTT	0.617000													4	31					0	0	0.150653	0	0
JAK1	3716	broad.mit.edu	37	1	65335021	65335021	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:65335021T>A	ENST00000342505.4	-	6	868	c.620A>T	c.(619-621)cAg>cTg	p.Q207L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	207	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TTCTGGCAACTGCATCTTCTT	0.488000			Mis		ALL								56	142					0	0	0.870114	0	0
RP1L1	94137	broad.mit.edu	37	8	10468035	10468035	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:10468035C>G	ENST00000382483.3	-	4	3796	c.3573G>C	c.(3571-3573)gaG>gaC	p.E1191D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1191					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCGTGAAGTTCTCCGTCATGG	0.627000													24	36					0	0	0.654019	0	0
SHANK2	22941	broad.mit.edu	37	11	70331650	70331650	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:70331650G>A	ENST00000338508.4	-	32	4750	c.4751C>T	c.(4750-4752)cCg>cTg	p.P1584L	SHANK2_ENST00000409161.1_Missense_Mutation_p.P987L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P988L|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1204L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1204					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			cggcgggggcgggggagcggg	0.567000													29	160					0	0	0.706142	0	0
OLFM3	118427	broad.mit.edu	37	1	102270397	102270397	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:102270397C>A	ENST00000370103.4	-	6	987	c.774G>T	c.(772-774)ggG>ggT	p.G258G	OLFM3_ENST00000338858.5_Silent_p.G278G|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	278	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTGATTCAGCCCCACTGACAA	0.368000													27	110					1.26454e-06	1.40855e-06	0.693898	1	0
LRP1B	53353	broad.mit.edu	37	2	141299474	141299474	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141299474A>T	ENST00000389484.3	-	44	8232	c.7261T>A	c.(7261-7263)Tcg>Acg	p.S2421T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2421					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCCAGTCCGACCAGAATATA	0.388000										TSP Lung(27;0.18)			40	106					0	0	0.804634	0	0
ZNF493	284443	broad.mit.edu	37	19	21587932	21587932	+	Splice_Site	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:21587932G>A	ENST00000392288.2	+	2	141	c.30_splice	c.e2-1	p.G11_splice	ZNF493_ENST00000339914.6_Splice_Site_p.G11_splice|ZNF493_ENST00000594390.1_Splice_Site_p.G11_splice|ZNF493_ENST00000596302.1_Splice_Site_p.G11_splice|ZNF493_ENST00000355504.4_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ttgtTTCAGGGGCCGTTGACA	0.413000													33	106					0	0	0.804634	0	0
SELP	6403	broad.mit.edu	37	1	169582194	169582194	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:169582194A>T	ENST00000263686.6	-	5	785	c.748T>A	c.(748-750)Tgg>Agg	p.W250R	SELP_ENST00000367786.2_Missense_Mutation_p.W250R|SELP_ENST00000458599.2_Missense_Mutation_p.W250R|SELP_ENST00000367794.2_Missense_Mutation_p.W250R|SELP_ENST00000367793.2_Missense_Mutation_p.W250R|SELP_ENST00000367792.2_Missense_Mutation_p.W250R|SELP_ENST00000367791.2_Missense_Mutation_p.W250R|SELP_ENST00000367788.2_Missense_Mutation_p.W250R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	250	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTATTTGTCCAGATTCCAGAA	0.458000													32	105					0	0	0.769981	0	0
TMTC1	83857	broad.mit.edu	37	12	29786262	29786262	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:29786262T>C	ENST00000256062.5	-	6	1095	c.622A>G	c.(622-624)Acc>Gcc	p.T208A	TMTC1_ENST00000552618.1_Missense_Mutation_p.T378A|TMTC1_ENST00000551659.1_Missense_Mutation_p.T378A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.T316A|TMTC1_ENST00000381224.2_Missense_Mutation_p.T270A	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	316						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TAGGAATAGGTGAGGAATCTA	0.438000													8	120					0	0	0.361761	0	0
ELMO1	9844	broad.mit.edu	37	7	37298793	37298793	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:37298793C>A	ENST00000310758.4	-	6	1053	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C	ELMO1_ENST00000448602.1_Missense_Mutation_p.G136C|ELMO1_ENST00000442504.1_Missense_Mutation_p.G136C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	136					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACTCAGTGCCGCTCTCCACC	0.502000													12	33					0.000978159	0.0010274	0.387290	1	0
ZNF75D	7626	broad.mit.edu	37	X	134421766	134421766	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:134421766T>A	ENST00000370766.3	-	7	3545	c.836A>T	c.(835-837)aAa>aTa	p.K279I	ZNF75D_ENST00000370764.1_Missense_Mutation_p.K184I|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	279	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGTGTCATTTTTTAGCTTTAA	0.348000													46	44					0	0	0.847076	0	0
HACE1	57531	broad.mit.edu	37	6	105243517	105243517	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:105243517T>C	ENST00000262903.4	-	10	1136	c.860A>G	c.(859-861)cAg>cGg	p.Q287R	HACE1_ENST00000369125.2_Missense_Mutation_p.Q287R	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	287					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTTTAGGTACTGGCTTTCACT	0.338000													22	102					0	0	0.654019	0	0
PLCB4	5332	broad.mit.edu	37	20	9417742	9417742	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:9417742T>A	ENST00000378501.2	+	26	2686	c.2671T>A	c.(2671-2673)Tct>Act	p.S891T	PLCB4_ENST00000378473.3_Missense_Mutation_p.S903T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.S891T|PLCB4_ENST00000278655.4_Missense_Mutation_p.S891T|PLCB4_ENST00000414679.2_Missense_Mutation_p.S903T|PLCB4_ENST00000378493.1_Missense_Mutation_p.S891T	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	891					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCAGAGTAGCTCTGAGCTCAG	0.542000													7	64					0	0	0.248553	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237592	23237592	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:23237592G>T	ENST00000531372.1	+	2	469	c.244G>T	c.(244-246)Gcc>Tcc	p.A82S	IGLL5_ENST00000532223.1_Silent_p.P122P|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000526893.1_Silent_p.P121P	NM_001256296.1	NP_001243225.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	0						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTCTGTTCCCGCCCTCCTCTG	0.602000													7	31					8.12818e-05	8.71275e-05	0.248553	1	0
NEK6	10783	broad.mit.edu	37	9	127089616	127089616	+	Splice_Site	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:127089616G>A	ENST00000373600.3	+	8	831		c.e8-1		NEK6_ENST00000545174.1_Splice_Site|NEK6_ENST00000320246.5_Splice_Site|NEK6_ENST00000546191.1_Splice_Site|NEK6_ENST00000540326.1_Splice_Site|NEK6_ENST00000394199.2_Splice_Site|NEK6_ENST00000539416.1_Splice_Site|NEK6_ENST00000373603.1_Splice_Site	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6						apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						TCGCCCTGCAGACATCAAGCC	0.632000													100	233					0	0	0.870114	0	0
GHDC	84514	broad.mit.edu	37	17	40342689	40342689	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:40342689G>A	ENST00000301671.8	-	7	1682	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	GHDC_ENST00000414034.3_Missense_Mutation_p.A414V|GHDC_ENST00000587427.1_Missense_Mutation_p.A414V|GHDC_ENST00000428494.2_Missense_Mutation_p.A375V|GHDC_ENST00000436923.2_Missense_Mutation_p.A414V|GHDC_ENST00000593209.1_Missense_Mutation_p.A414V			Q8N2G8	GHDC_HUMAN	GH3 domain containing	414						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTTGGCCCCCGCCCACTGCCC	0.627000													4	56					0	0	0.184627	0	0
NPAP1	23742	broad.mit.edu	37	15	24922320	24922320	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:24922320C>A	ENST00000329468.2	+	1	1780	c.1306C>A	c.(1306-1308)Ccc>Acc	p.P436T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGCTACTGGACCCCTCATCCT	0.542000													37	105					6.70999e-13	8.20401e-13	0.796494	1	0
KIAA0319	9856	broad.mit.edu	37	6	24596542	24596542	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:24596542C>G	ENST00000535378.1	-	4	975	c.333G>C	c.(331-333)atG>atC	p.M111I	KIAA0319_ENST00000537886.1_Missense_Mutation_p.M120I|KIAA0319_ENST00000378214.3_Missense_Mutation_p.M120I|KIAA0319_ENST00000430948.2_Missense_Mutation_p.M75I|KIAA0319_ENST00000543707.1_Missense_Mutation_p.M120I	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	120					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCCTGTTCAGCATCATGTCCC	0.557000													71	74					0	0	0.870114	0	0
VNN1	8876	broad.mit.edu	37	6	133014422	133014422	+	Missense_Mutation	SNP	A	A	T	rs141622053	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:133014422A>T	ENST00000367928.4	-	4	580	c.567T>A	c.(565-567)aaT>aaA	p.N189K		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	189	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCTTGGGTACATTGAATTGAT	0.373000													17	74					0	0	0.539581	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53708989	53708989	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:53708989C>T	ENST00000262135.4	-	7	915	c.822G>A	c.(820-822)caG>caA	p.Q274Q	RPGRIP1L_ENST00000563746.1_Silent_p.Q274Q|RPGRIP1L_ENST00000379925.3_Silent_p.Q274Q|RPGRIP1L_ENST00000564374.1_Silent_p.Q274Q	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	274					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTCTACTAGCTGTTTATGAA	0.323000													7	107					0	0	0.335167	0	0
CELSR2	1952	broad.mit.edu	37	1	109811810	109811810	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:109811810A>G	ENST00000271332.3	+	20	6771	c.6710A>G	c.(6709-6711)cAc>cGc	p.H2237R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2237					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGCGACGGCACCCGGAGCTG	0.682000													13	53					0	0	0.479597	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25748074	25748074	+	RNA	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:25748074C>G	ENST00000586223.1	+	0	461					NR_033892.1																						GGCTCCCAGACCGAGATGGCT	0.602000													3	7					0	0	0.115264	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101795457	101795457	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:101795457T>C	ENST00000506729.1	-	5	1095	c.924A>G	c.(922-924)ccA>ccG	p.P308P	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.P308P|SLCO6A1_ENST00000389019.3_Silent_p.P246P			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	308						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATAGCCATTCTGGACTACCAT	0.353000													42	93					0	0	0.834066	0	0
DZIP1	22873	broad.mit.edu	37	13	96242634	96242634	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:96242634C>T	ENST00000347108.3	-	15	2174	c.1742G>A	c.(1741-1743)aGa>aAa	p.R581K	DZIP1_ENST00000361156.3_Missense_Mutation_p.R562K|DZIP1_ENST00000376829.2_Missense_Mutation_p.R581K|DZIP1_ENST00000361396.2_Missense_Mutation_p.R562K			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	581					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTGCTTATGTCTTTCTGATTC	0.368000													50	105					0	0	0.870114	0	0
C10orf118	55088	broad.mit.edu	37	10	115895718	115895718	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:115895718T>A	ENST00000369287.3	-	9	1710	c.1444A>T	c.(1444-1446)Aag>Tag	p.K482*	C10orf118_ENST00000543782.1_Nonsense_Mutation_p.K80*	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	482										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCTAGTTCCTTTATTTTGGCA	0.333000													45	101					0	0	0.864702	0	0
CDK12	51755	broad.mit.edu	37	17	37673803	37673803	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:37673803T>C	ENST00000447079.4	+	10	2990	c.2957T>C	c.(2956-2958)tTc>tCc	p.F986S	CDK12_ENST00000430627.2_Missense_Mutation_p.F986S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	986	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CGAGAAGAATTCTCTTTGTGA	0.468000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			10	75					0	0	0.335167	0	0
RBBP6	5930	broad.mit.edu	37	16	24580864	24580864	+	Silent	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:24580864A>T	ENST00000319715.4	+	17	3285	c.2853A>T	c.(2851-2853)ccA>ccT	p.P951P	RBBP6_ENST00000348022.2_Silent_p.P917P|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	951					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTCTGAACCCAGAGTTATTAG	0.398000													13	48					0	0	0.411799	0	0
UCK1	83549	broad.mit.edu	37	9	134404388	134404388	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:134404388C>G	ENST00000372215.4	-	5	639	c.546G>C	c.(544-546)caG>caC	p.Q182H	UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Missense_Mutation_p.Q173H|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000372211.3_Missense_Mutation_p.Q187H	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	182					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCGTCAGAATCTGCTCCAGGT	0.642000													11	20					0	0	0.411799	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282368	71282368	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:71282368G>A	ENST00000335793.3	-	2	666	c.272C>T	c.(271-273)tCg>tTg	p.S91L	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	91					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTGGTCACCGACTGTGACCG	0.632000													23	57					0	0	0.624587	0	0
OR8J1	219477	broad.mit.edu	37	11	56128342	56128342	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:56128342T>C	ENST00000303039.3	+	1	652	c.620T>C	c.(619-621)gTg>gCg	p.V207A		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCAACAAATGTGGTTGGTTCC	0.308000													37	118					0	0	0.796494	0	0
XKR7	343702	broad.mit.edu	37	20	30584546	30584546	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:30584546G>T	ENST00000217299.3	+	3	1200	c.1026G>T	c.(1024-1026)tgG>tgT	p.W342C		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	342						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGACCTTCTGGGTCATCCAAG	0.562000													7	68					8.12818e-05	8.71275e-05	0.248553	1	0
IFT80	57560	broad.mit.edu	37	3	160095273	160095273	+	Silent	SNP	G	G	A	rs137853115		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:160095273G>A	ENST00000326448.7	-	4	747	c.315C>T	c.(313-315)caC>caT	p.H105H	IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000477495.1_5'UTR|IFT80_ENST00000483465.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	105			H -> Q (in ATD2).			cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGCTCCACAGTGAGCTTCTA	0.303000													81	166					0	0	0.870114	0	0
KIF4A	24137	broad.mit.edu	37	X	69563610	69563610	+	Splice_Site	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:69563610G>T	ENST00000374403.3	+	12	1406	c.1325_splice	c.e12+1	p.A442_splice	KIF4A_ENST00000374388.3_Splice_Site_p.A442_splice	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	442					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAGCATGCGGCGTAAGTTGC	0.468000													15	21					4.14922e-12	5.03374e-12	0.500413	1	0
THAP5	168451	broad.mit.edu	37	7	108205353	108205353	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:108205353C>T	ENST00000415914.3	-	3	623	c.470G>A	c.(469-471)gGa>gAa	p.G157E	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.G115E	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	157					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTGTATACTTCCTGTTTTGGG	0.358000													7	25					0	0	0.335167	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412536	110412536	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:110412536C>A	ENST00000378402.5	+	13	1348	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	415					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACCGTTATGCTATTTATTTT	0.368000										HNSCC(38;0.096)			16	263					2.32078e-09	2.71047e-09	0.479597	1	0
IGSF1	3547	broad.mit.edu	37	X	130416470	130416470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:130416470C>T	ENST00000370904.1	-	13	2077	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W389*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W398*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W398*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	398	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGAGGTCTTCCAGGTGAGAA	0.408000													41	40					0	0	0.870114	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184633772	184633772	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:184633772A>G	ENST00000334690.6	+	30	3579	c.3377A>G	c.(3376-3378)gAt>gGt	p.D1126G	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.D732G|TRAPPC11_ENST00000357207.4_Silent_p.G1086G	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	1126																	CGACTCATGGATGATACCTCT	0.393000													26	253					0	0	0.706142	0	0
EMC8	10328	broad.mit.edu	37	16	85822627	85822627	+	Silent	SNP	G	G	A	rs146555773		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:85822627G>A	ENST00000253457.3	-	2	505	c.261C>T	c.(259-261)taC>taT	p.Y87Y	EMC8_ENST00000435200.2_Silent_p.Y87Y	NM_006067.4	NP_006058.1			ER membrane protein complex subunit 8																		CAGCAATCACGTAGCTATGAT	0.438000													11	149					0	0	0.457914	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119135065	119135065	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:119135065G>A	ENST00000264245.4	+	12	4821	c.4289G>A	c.(4288-4290)cGg>cAg	p.R1430Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1430					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CAGCCTCAGCGGAGATCAGTA	0.448000													9	107					0	0	0.335167	0	0
CECR5	27440	broad.mit.edu	37	22	17619593	17619593	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:17619593G>A	ENST00000336737.4	-	7	807	c.782C>T	c.(781-783)aCc>aTc	p.T261I	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.T231I	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	261							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTGGTAAATGGTTTCCAGGCA	0.542000													77	218					0	0	0.870114	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1330403	1330403	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:1330403C>T	ENST00000320895.5	-	9	1329	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	CLPTM1L_ENST00000507807.1_Intron|CLPTM1L_ENST00000320927.6_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	358					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCTCAATGGCGGCTCCAACA	0.622000													56	71					0	0	0.870114	0	0
ABCA13	154664	broad.mit.edu	37	7	48390265	48390265	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:48390265C>A	ENST00000435803.1	+	30	10254	c.10230C>A	c.(10228-10230)aaC>aaA	p.N3410K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3410					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGATGTTTAACCATGCAGGCG	0.512000													47	217					6.08268e-21	7.86727e-21	0.870114	1	0
IGF1R	3480	broad.mit.edu	37	15	99467897	99467897	+	Silent	SNP	C	C	T	rs45514893	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:99467897C>T	ENST00000268035.6	+	13	3377	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	IGF1R_ENST00000558762.1_Silent_p.F922F	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	922	Fibronectin type-III 3.				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			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)	CTGTGTTCTTCTATGTCCAGG	0.547000													18	98					0	0	0.608945	0	0
IFNA16	3449	broad.mit.edu	37	9	21216750	21216750	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:21216750T>A	ENST00000380216.1	-	1	560	c.555A>T	c.(553-555)ttA>ttT	p.L185F		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	185					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTTCCTTCTTAATCCTTTTT	0.373000													99	253					0	0	0.870114	0	0
ADRBK1	156	broad.mit.edu	37	11	67047163	67047163	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:67047163C>A	ENST00000308595.5	+	5	723	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	ADRBK1_ENST00000526285.1_Missense_Mutation_p.L145I	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	145	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCCTCCGGATCTCTTCCAGGT	0.632000													26	97					7.92952e-12	9.58278e-12	0.667858	1	0
WRN	7486	broad.mit.edu	37	8	30949360	30949360	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:30949360C>T	ENST00000298139.5	+	16	2093	c.1844C>T	c.(1843-1845)cCa>cTa	p.P615L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	615	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCCAACATCCCAGCTTGCTTC	0.323000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				15	104					0	0	0.500413	0	0
CACNA1C	775	broad.mit.edu	37	12	2705075	2705075	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:2705075C>T	ENST00000399655.1	+	20	2964	c.2699C>T	c.(2698-2700)aCg>aTg	p.T900M	CACNA1C_ENST00000399621.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T900M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T900M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T925M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T900M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T900M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T900M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	900					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.T900M(3)|p.T930M(1)|p.T435M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTCAATGACACGATCTTCACC	0.562000													21	78					0	0	0.639603	0	0
JARID2	3720	broad.mit.edu	37	6	15512521	15512521	+	Missense_Mutation	SNP	C	C	T	rs145282448		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:15512521C>T	ENST00000341776.2	+	14	3279	c.3035C>T	c.(3034-3036)cCg>cTg	p.P1012L	JARID2_ENST00000397311.3_Missense_Mutation_p.P840L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1012	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GTCTGCTTCCCGGGATCCTTT	0.582000													6	133					0	0	0.278610	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99764268	99764268	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:99764268G>A	ENST00000360039.4	-	3	678	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R96C|GAL3ST4_ENST00000426974.2_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000411994.1_Intron	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	96					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGCGAAGCGCAGCCCGTGC	0.637000													27	196					0	0	0.706142	0	0
DPPA2	151871	broad.mit.edu	37	3	109028054	109028054	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:109028054T>C	ENST00000478945.1	-	4	551	c.305A>G	c.(304-306)gAc>gGc	p.D102G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	102	SAP.					nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGACACCAGTCCCGCAAAGT	0.443000													13	529					0	0	0.520397	0	0
MEP1A	4224	broad.mit.edu	37	6	46806851	46806851	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:46806851T>C	ENST00000230588.4	+	14	2228	c.2219T>C	c.(2218-2220)cTt>cCt	p.L740P		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	740					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATCGCCATCCTTTCCCAAAGG	0.587000													41	107					0	0	0.827153	0	0
OR5D13	390142	broad.mit.edu	37	11	55541468	55541468	+	Silent	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:55541468A>T	ENST00000361760.1	+	1	555	c.555A>T	c.(553-555)gtA>gtT	p.V185V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACCACTCTGTAATTGTTTCTG	0.388000													34	205					0	0	0.779181	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940192	67940192	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:67940192G>T	ENST00000357461.2	-	3	858	c.449C>A	c.(448-450)cCc>cAc	p.P150H	TMEM229B_ENST00000557006.1_Missense_Mutation_p.P150H	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	150						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGCTCCCCGGGCTCAGCGTC	0.657000													15	81					2.32078e-09	2.71047e-09	0.479597	1	0
OTUD7B	56957	broad.mit.edu	37	1	149915890	149915890	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:149915890T>A	ENST00000369135.3	-	12	2692	c.2398A>T	c.(2398-2400)Acc>Tcc	p.T800S		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	800					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TTGCATTTGGTCTGAGTTGGG	0.557000													68	205					0	0	0.870114	0	0
PDK4	5166	broad.mit.edu	37	7	95222138	95222138	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:95222138G>A	ENST00000005178.5	-	4	660	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	155	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AAATATTGAAGATTTTGATTG	0.383000													41	146					0	0	0.827153	0	0
OTOGL	283310	broad.mit.edu	37	12	80658860	80658860	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:80658860C>G	ENST00000458043.2	+	19	2073	c.2067C>G	c.(2065-2067)taC>taG	p.Y689*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.Y689*	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGGGCTGTACTATCAGCTAT	0.537000													69	181					0	0	0.870114	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686756	53686756	+	Missense_Mutation	SNP	T	T	A	rs121918198		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:53686756T>A	ENST00000262135.4	-	15	1936	c.1843A>T	c.(1843-1845)Acc>Tcc	p.T615S	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.T615S|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.T615S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.T615S	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	615	C2 1.		T -> P (in JBTS7; affects interaction with NPHP4).		negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GAAGAAAAGGTTACTTTGTTG	0.373000													10	116					0	0	0.335167	0	0
CSMD1	64478	broad.mit.edu	37	8	3059159	3059159	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:3059159G>A	ENST00000520002.1	-	33	5631	c.5076C>T	c.(5074-5076)ctC>ctT	p.L1692L	CSMD1_ENST00000542608.1_Silent_p.L1691L|CSMD1_ENST00000539096.1_Silent_p.L1691L|CSMD1_ENST00000400186.3_Silent_p.L1692L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.L1692L|CSMD1_ENST00000602557.1_Silent_p.L1692L|CSMD1_ENST00000537824.1_Silent_p.L1691L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1692	CUB 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGAGTGAGCTGAGAAGTCTGG	0.408000													3	19					0	0	0.150653	0	0
CCNYL1	151195	broad.mit.edu	37	2	208576752	208576752	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:208576752G>T	ENST00000295414.3	+	1	343	c.132G>T	c.(130-132)gcG>gcT	p.A44A	CCNYL1_ENST00000339882.5_Silent_p.A44A|CCNYL1_ENST00000392209.3_5'UTR|CCNYL1_ENST00000420822.1_Silent_p.A44A			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	44					regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TGGCGGTAGCGCCCGCTGTGG	0.706000													4	6					0.150653	0.152111	0.150653	1	0
PYHIN1	149628	broad.mit.edu	37	1	158906896	158906896	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:158906896A>G	ENST00000368140.1	+	2	441	c.196A>G	c.(196-198)Ata>Gta	p.I66V	PYHIN1_ENST00000368138.3_Missense_Mutation_p.I66V|PYHIN1_ENST00000392254.2_Missense_Mutation_p.I66V|PYHIN1_ENST00000392252.3_Missense_Mutation_p.I66V|PYHIN1_ENST00000368135.4_Missense_Mutation_p.I66V	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	66	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GGGCAAACTAATAGAATTCTT	0.383000													31	92					0	0	0.760397	0	0
CNST	163882	broad.mit.edu	37	1	246823595	246823595	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:246823595G>T	ENST00000366513.4	+	10	2200	c.1931G>T	c.(1930-1932)cGa>cTa	p.R644L		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	644					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CCATCTAAGCGAAGAGTGAGA	0.438000													66	172					1.84395e-34	2.45599e-34	0.870114	1	0
OR2K2	26248	broad.mit.edu	37	9	114090596	114090596	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:114090596A>T	ENST00000374428.1	-	1	204	c.205T>A	c.(205-207)Ttg>Atg	p.L69M	OR2K2_ENST00000302681.1_Missense_Mutation_p.L40M			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CTGTTGCCCAAGAGCGTTGTC	0.413000													46	95					0	0	0.870114	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717400	2717400	+	Silent	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:2717400C>G	ENST00000323469.4	-	2	588	c.405G>C	c.(403-405)gcG>gcC	p.A135A	DIRAS1_ENST00000585334.1_Silent_p.A135A	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	135					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CCACCGCCTGCGCCTCGCGCG	0.617000													25	76					0	0	0.654019	0	0
CFHR5	81494	broad.mit.edu	37	1	196971751	196971751	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:196971751T>A	ENST00000367414.5	+	8	1415	c.1359T>A	c.(1357-1359)atT>atA	p.I453I	CFHR5_ENST00000256785.4_Silent_p.I429I	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	429	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CAAAAGAAATTGTATGTAAAG	0.348000													31	72					0	0	0.779181	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051886	79051886	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:79051886G>A	ENST00000388820.4	-	24	5148	c.4938C>T	c.(4936-4938)tgC>tgT	p.C1646C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1646	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1646C(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGCGTCTCGCAGAACCCGA	0.701000													3	9					0	0	0.184627	0	0
PDZD2	23037	broad.mit.edu	37	5	31983676	31983676	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:31983676G>A	ENST00000438447.1	+	3	1280	c.892G>A	c.(892-894)Gat>Aat	p.D298N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D298N			O15018	PDZD2_HUMAN	PDZ domain containing 2	298					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAAAGACAGATGCTCCTCT	0.512000													37	186					0	0	0.812448	0	0
CDR1	1038	broad.mit.edu	37	X	139866496	139866496	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:139866496G>A	ENST00000370532.2	-	1	227	c.36C>T	c.(34-36)gaC>gaT	p.D12D		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	12	23 X 6 AA approximate repeats.							p.D12D(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACAAAGGTACGTCTTCCAGAA	0.418000													57	51					0	0	0.870114	0	0
PIK3CA	5290	broad.mit.edu	37	3	178922319	178922319	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:178922319G>C	ENST00000263967.3	+	6	1245	c.1088G>C	c.(1087-1089)gGa>gCa	p.G363A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	363	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCTACCATGGAGGAGAACCC	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			52	177					0	0	0.870114	0	0
C16orf62	57020	broad.mit.edu	37	16	19612993	19612993	+	Silent	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:19612993C>G	ENST00000438132.3	+	9	1047	c.999C>G	c.(997-999)ctC>ctG	p.L333L	C16orf62_ENST00000448695.1_Silent_p.L94L|C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000542263.1_Silent_p.L333L|C16orf62_ENST00000251143.5_Silent_p.L244L|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000417362.2_Silent_p.L244L	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	244						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CAGGAAAGCTCGTGTACGAGC	0.483000											OREG0023661	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	92					0	0	0.608945	0	0
OLFM3	118427	broad.mit.edu	37	1	102270399	102270399	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:102270399C>A	ENST00000370103.4	-	6	985	c.772G>T	c.(772-774)Ggg>Tgg	p.G258W	OLFM3_ENST00000338858.5_Missense_Mutation_p.G278W|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	278	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATTCAGCCCCACTGACAAAG	0.368000													28	109					2.14196e-07	2.42033e-07	0.717897	1	0
CYTIP	9595	broad.mit.edu	37	2	158283872	158283872	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:158283872C>T	ENST00000264192.3	-	6	658	c.537G>A	c.(535-537)caG>caA	p.Q179Q	CYTIP_ENST00000540637.1_Silent_p.Q73Q	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	179	Interaction with CYTH1.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CCTTTAAAACCTGCAGCTTTG	0.363000													9	28					0	0	0.361761	0	0
ABCA7	10347	broad.mit.edu	37	19	1042123	1042123	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:1042123G>T	ENST00000263094.6	+	5	594	c.363G>T	c.(361-363)acG>acT	p.T121T	ABCA7_ENST00000433129.1_Silent_p.T121T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	121					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CCCACAGGACGCTGGCTGGCC	0.716000													4	12					0.000602214	0.000634657	0.184627	1	0
PPP2R2B	5521	broad.mit.edu	37	5	145979965	145979965	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:145979965C>A	ENST00000394413.3	-	7	1419	c.849G>T	c.(847-849)tcG>tcT	p.S283S	PPP2R2B_ENST00000394414.1_Silent_p.S349S|PPP2R2B_ENST00000394409.3_Silent_p.S341S|PPP2R2B_ENST00000356826.3_Silent_p.S283S|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Silent_p.S286S|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000504198.1_Silent_p.S289S|PPP2R2B_ENST00000394410.2_Silent_p.S272S|PPP2R2B_ENST00000453001.1_Silent_p.S283S|PPP2R2B_ENST00000394411.4_Silent_p.S283S|PPP2R2B_ENST00000508545.2_Silent_p.S272S			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	283					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCCGAAATCGAAGAGATAA	0.428000													42	69					3.4345e-17	4.35222e-17	0.859065	1	0
KIF6	221458	broad.mit.edu	37	6	39602685	39602685	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:39602685T>C	ENST00000287152.7	-	5	543	c.449A>G	c.(448-450)aAt>aGt	p.N150S	KIF6_ENST00000373216.3_Missense_Mutation_p.N150S|KIF6_ENST00000538893.1_Missense_Mutation_p.N150S|KIF6_ENST00000373215.3_Missense_Mutation_p.N150S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	150	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACCACATTCATTGTAGATTTC	0.363000													45	128					0	0	0.870114	0	0
NACA	4666	broad.mit.edu	37	12	57112034	57112034	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:57112034G>A	ENST00000454682.1	-	3	3561	c.3280C>T	c.(3280-3282)Cca>Tca	p.P1094S	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTAGCTGGGCCTCCTTTT	0.657000			T	BCL6	NHL								31	88					0	0	0.729181	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433986	73433986	+	Missense_Mutation	SNP	G	G	T	rs151244384		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:73433986G>T	ENST00000263666.4	-	10	1845	c.1731C>A	c.(1729-1731)agC>agA	p.S577R	PDZRN3_ENST00000466780.1_Missense_Mutation_p.S234R|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S234R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S294R|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S299R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	577							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CATTACGGGTGCTCTCGTCGG	0.622000													12	42					4.3838e-07	4.93572e-07	0.435327	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79089014	79089014	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:79089014G>T	ENST00000388820.4	-	4	947	c.737C>A	c.(736-738)aCc>aAc	p.T246N	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	246	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TACTACCAGGGTCTCCACCCA	0.607000													10	190					2.80697e-09	3.25401e-09	0.387290	1	0
GPR21	2844	broad.mit.edu	37	9	125797359	125797359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:125797359G>T	ENST00000373642.1	+	1	554	c.514G>T	c.(514-516)Gga>Tga	p.G172*	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	172						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGGCAAACCTGGATATCATGG	0.512000													43	224					5.44703e-19	6.98738e-19	0.847076	1	0
NOD2	64127	broad.mit.edu	37	16	50763774	50763774	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:50763774G>T	ENST00000300589.2	+	11	3117	c.3012G>T	c.(3010-3012)ctG>ctT	p.L1004L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	1004					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AAGCCCTCCTGCAGGCCCTTG	0.478000													12	59					1.05317e-09	1.24393e-09	0.457914	1	0
SLC8A1	6546	broad.mit.edu	37	2	40366736	40366736	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:40366736A>G	ENST00000406785.1	-	7	2431	c.2242T>C	c.(2242-2244)Ttc>Ctc	p.F748L	SLC8A1_ENST00000408028.2_Missense_Mutation_p.F776L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F784L|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.F784L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F748L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F748L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F779L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F748L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F748L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F779L|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	784					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.F784L(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCTTCCAGAACACAGTCAGA	0.498000													41	120					0	0	0.834066	0	0
GIPC3	126326	broad.mit.edu	37	19	3589862	3589862	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:3589862G>T	ENST00000322315.5	+	5	784	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	247										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCGGAAGGTTGATGACCT	0.652000													35	189					2.95478e-19	3.80595e-19	0.840704	1	0
TCAIM	285343	broad.mit.edu	37	3	44442041	44442041	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:44442041C>T	ENST00000342649.4	+	9	1507	c.1080C>T	c.(1078-1080)caC>caT	p.H360H	TCAIM_ENST00000417237.1_Silent_p.H360H	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		TACTATTTCACCCTCGAAGTT	0.323000													21	87					0	0	0.639603	0	0
TAF1	6872	broad.mit.edu	37	X	70618460	70618460	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:70618460A>G	ENST00000449580.1	+	24	3707	c.3656A>G	c.(3655-3657)gAg>gGg	p.E1219G	TAF1_ENST00000373790.4_Missense_Mutation_p.E1219G|TAF1_ENST00000423759.1_Missense_Mutation_p.E1240G|TAF1_ENST00000276072.3_Missense_Mutation_p.E1240G			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1219					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATCGGGAAGAGATGCGAAAA	0.468000													6	39					0	0	0.248553	0	0
SGSM2	9905	broad.mit.edu	37	17	2281220	2281220	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:2281220C>A	ENST00000268989.3	+	22	3049	c.2872C>A	c.(2872-2874)Cgc>Agc	p.R958S	SGSM2_ENST00000426855.2_Missense_Mutation_p.R913S|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Missense_Mutation_p.R913S	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	913						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CTTCTGTTATCGCTGGTTCCT	0.507000													4	100					0.014758	0.0151451	0.184627	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009098	88009098	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:88009098G>T	ENST00000276127.4	+	3	942	c.683G>T	c.(682-684)aGa>aTa	p.R228I	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R228I	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	228						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GGGAAATGTAGATTCCGTGCT	0.373000													14	16					1.15088e-07	1.30991e-07	0.500413	1	0
NSD1	64324	broad.mit.edu	37	5	176687152	176687152	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:176687152G>C	ENST00000439151.2	+	14	5174	c.5129G>C	c.(5128-5130)tGc>tCc	p.C1710S	NSD1_ENST00000361032.4_Missense_Mutation_p.C1607S|NSD1_ENST00000354179.4_Missense_Mutation_p.C1441S|NSD1_ENST00000347982.4_Missense_Mutation_p.C1441S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1710					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTAGCTGGTGCTTTGTGTGC	0.383000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			15	31					0	0	0.479597	0	0
MTA1	9112	broad.mit.edu	37	14	105932764	105932764	+	Splice_Site	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:105932764G>A	ENST00000331320.7	+	17	1840	c.1624_splice	c.e17-1	p.E542_splice	MTA1_ENST00000435036.2_Splice_Site_p.E78_splice|MTA1_ENST00000405646.1_Splice_Site_p.E525_splice|MTA1_ENST00000406191.1_Splice_Site_p.E542_splice	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	542					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TCCCGGCAGAGACCCACCCCC	0.682000													5	6					0	0	0.248553	0	0
HERC2P3	283755	broad.mit.edu	37	15	20643936	20643936	+	RNA	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:20643936G>A	ENST00000428453.1	-	0	3523																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGAGTCATGGTGACTTCTCC	0.567000													18	105					0	0	0.592651	0	0
KCNF1	3754	broad.mit.edu	37	2	11052775	11052775	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:11052775C>T	ENST00000295082.1	+	1	713	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	75						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCCGGCAAGCGCGAGTTCTA	0.592000													10	47					0	0	0.335167	0	0
TRGJP	6970	broad.mit.edu	37	7	38313237	38313237	+	RNA	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:38313237C>A	ENST00000390338.2	-	0	11																											TTTTTTTGCCCAACTCTTGCC	0.358000													56	213					3.07184e-27	4.07409e-27	0.870114	1	0
CDH10	1008	broad.mit.edu	37	5	24488015	24488015	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:24488015C>A	ENST00000264463.4	-	12	2631	c.2124G>T	c.(2122-2124)acG>acT	p.T708T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	708					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCCGGACGTCCGTGTTATCTG	0.473000										HNSCC(23;0.051)			41	160					8.69298e-16	1.09714e-15	0.827153	1	0
CDH15	1013	broad.mit.edu	37	16	89251724	89251724	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:89251724G>C	ENST00000289746.2	+	5	711	c.646G>C	c.(646-648)Gtg>Ctg	p.V216L		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	216	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CACAGTGCAAGTGGGGCTGGA	0.697000													7	15					0	0	0.307466	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711704	45711704	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:45711704G>C	ENST00000310806.4	-	4	1134	c.676C>G	c.(676-678)Caa>Gaa	p.Q226E		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	226					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCCTGTTCTTGGTTCAGAGTT	0.328000													38	108					0	0	0.796494	0	0
CSNK2A1	1457	broad.mit.edu	37	20	485836	485836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:485836G>A	ENST00000217244.3	-	4	514	c.139C>T	c.(139-141)Cga>Tga	p.R47*	CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R47*|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R47*|CSNK2A1_ENST00000400217.1_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	47	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TATTTACCTCGGCCTAATTTT	0.343000													17	67					0	0	0.557998	0	0
ANK1	286	broad.mit.edu	37	8	41530294	41530294	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:41530294G>A	ENST00000396942.1	-	38	4757	c.4674C>T	c.(4672-4674)gaC>gaT	p.D1558D	ANK1_ENST00000265709.8_Silent_p.D1599D|ANK1_ENST00000379758.2_Silent_p.D1558D|ANK1_ENST00000352337.4_Silent_p.D1558D|ANK1_ENST00000289734.7_Silent_p.D1558D|ANK1_ENST00000347528.4_Silent_p.D1558D|ANK1_ENST00000396945.1_Silent_p.D1558D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1558	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCAGCATGGTGTCATGCTCCG	0.612000													9	77					0	0	0.335167	0	0
ASPG	374569	broad.mit.edu	37	14	104561928	104561928	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:104561928G>A	ENST00000551177.1	+	4	456	c.364G>A	c.(364-366)Gct>Act	p.A122T	ASPG_ENST00000455920.2_Missense_Mutation_p.A122T|ASPG_ENST00000546892.2_Missense_Mutation_p.A122T	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	122	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CATGGCCTTTGCTGCCTCGAT	0.637000													35	63					0	0	0.788014	0	0
ZNF536	9745	broad.mit.edu	37	19	30935280	30935280	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:30935280G>C	ENST00000355537.3	+	2	958	c.811G>C	c.(811-813)Gcg>Ccg	p.A271P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGTGGCCCCGGCGGCGGGCTT	0.672000													7	23					0	0	0.307466	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504465	151504465	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:151504465C>A	ENST00000317605.4	+	1	1389	c.284C>A	c.(283-285)cCc>cAc	p.P95H	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	95					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GGCTCGCTGCCCGGCTGCGCA	0.602000													11	91					1.08611e-07	1.2407e-07	0.387290	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118355756	118355756	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:118355756C>T	ENST00000528052.1	+	6	567	c.496C>T	c.(496-498)Cac>Tac	p.H166Y	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.H166Y|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.H166Y			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	166					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TTCCAAAGTTCACCTCATTGG	0.527000													94	322					0	0	0.870114	0	0
ANKRD52	283373	broad.mit.edu	37	12	56648493	56648493	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:56648493C>A	ENST00000267116.7	-	7	683	c.562G>T	c.(562-564)Gtc>Ttc	p.V188F		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	188							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGTTTTAGGACCTCCAAGTGC	0.542000													7	35					0.0293803	0.0298573	0.248553	1	0
PALD1	27143	broad.mit.edu	37	10	72285834	72285834	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:72285834T>A	ENST00000263563.6	+	2	395	c.127T>A	c.(127-129)Ttg>Atg	p.L43M		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GAGCACTAGCTTGCATAACAG	0.602000													24	87					0	0	0.693898	0	0
GALNT4	8693	broad.mit.edu	37	12	89918285	89918285	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:89918285C>T	ENST00000529983.2	-	1	298	c.42G>A	c.(40-42)ctG>ctA	p.L14L	POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000548729.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)	14					carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AAAACGCCAGCAGCAGGCAGC	0.622000											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	80					0	0	0.184627	0	0
ANKRD2	26287	broad.mit.edu	37	10	99343356	99343356	+	Silent	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:99343356G>C	ENST00000307518.5	+	9	1224	c.957G>C	c.(955-957)ctG>ctC	p.L319L	ANKRD2_ENST00000298808.5_Silent_p.L286L|ANKRD2_ENST00000370655.1_Silent_p.L292L|ANKRD2_ENST00000455090.1_Silent_p.L259L			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	319					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CGACGGACCTGGTGCAGCTCT	0.622000													7	11					0	0	0.278610	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724597	38724597	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:38724597C>T	ENST00000342213.2	-	1	977	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	211						integral to membrane	sugar binding	p.E211*(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCACTCACCTCGGTCCCAGGT	0.652000													76	176					0	0	0.870114	0	0
PDS5B	23047	broad.mit.edu	37	13	33334734	33334734	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:33334734G>C	ENST00000315596.10	+	30	3580	c.3394G>C	c.(3394-3396)Gga>Cga	p.G1132R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1132					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAATGTTCTAGGAGCTGTTAA	0.383000													19	62					0	0	0.557998	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129072905	129072905	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:129072905G>C	ENST00000274487.4	+	23	3763	c.3618G>C	c.(3616-3618)aaG>aaC	p.K1206N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1206					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCAGCAGAAGAGTTGACCTC	0.448000													14	18					0	0	0.435327	0	0
TLE2	7089	broad.mit.edu	37	19	3009612	3009612	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:3009612C>A	ENST00000262953.6	-	13	1363	c.1101G>T	c.(1099-1101)gtG>gtT	p.V367V	TLE2_ENST00000591529.1_Silent_p.V381V|TLE2_ENST00000455444.2_Silent_p.V245V|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Silent_p.V368V|TLE2_ENST00000426948.2_Silent_p.V381V|TLE2_ENST00000447365.2_Intron|TLE2_ENST00000443826.3_Silent_p.V245V	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	367	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		AGGAGCTGGGCACGGAGAGGT	0.662000													3	23					0.00909568	0.00939587	0.150653	1	0
NLRP5	126206	broad.mit.edu	37	19	56552287	56552287	+	Splice_Site	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:56552287G>T	ENST00000390649.3	+	11	2786		c.e11-1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5							mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTTCTTGCAGACTGGAGGAC	0.542000													14	50					1.49906e-05	1.64058e-05	0.457914	1	0
CCDC42	146849	broad.mit.edu	37	17	8638909	8638909	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:8638909C>A	ENST00000293845.3	-	5	739	c.513G>T	c.(511-513)gtG>gtT	p.V171V	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	171				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						AGCGTGCAATCACCTCATGGA	0.642000													5	55					0.014758	0.0151451	0.184627	1	0
DDX60	55601	broad.mit.edu	37	4	169157507	169157507	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:169157507G>C	ENST00000393743.3	-	33	4720	c.4429C>G	c.(4429-4431)Caa>Gaa	p.Q1477E		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1477							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATAACGTCTTGAGAAAAATGT	0.303000													12	90					0	0	0.411799	0	0
ZNF135	7694	broad.mit.edu	37	19	58579484	58579484	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:58579484C>A	ENST00000506786.1	+	5	2060	c.1506C>A	c.(1504-1506)caC>caA	p.H502Q	ZNF135_ENST00000401053.4_Missense_Mutation_p.H568Q|ZNF135_ENST00000511556.1_Missense_Mutation_p.H556Q|ZNF135_ENST00000439855.2_Missense_Mutation_p.H544Q|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.H544Q			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	556					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGAGGATCCACACAGGAGAGA	0.532000													22	79					2.89027e-11	3.46611e-11	0.624587	1	0
GRIN2D	2906	broad.mit.edu	37	19	48908443	48908443	+	Silent	SNP	A	A	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:48908443A>C	ENST00000263269.3	+	3	1006	c.918A>C	c.(916-918)gcA>gcC	p.A306A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	306						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GGCTGTTTGCAGTGCGCTCGG	0.716000													3	13					0	0	0.184627	0	0
LRP1B	53353	broad.mit.edu	37	2	141116461	141116461	+	Missense_Mutation	SNP	C	C	G	rs145962775		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141116461C>G	ENST00000389484.3	-	73	12157	c.11186G>C	c.(11185-11187)tGc>tCc	p.C3729S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3729	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGACTGTAGGCATATTCTGTT	0.383000										TSP Lung(27;0.18)			48	123					0	0	0.864702	0	0
NT5C2	22978	broad.mit.edu	37	10	104860861	104860861	+	Splice_Site	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:104860861T>C	ENST00000343289.5	-	7	569		c.e7-2		NT5C2_ENST00000404739.3_Splice_Site|NT5C2_ENST00000369857.4_Splice_Site|NT5C2_ENST00000423468.2_Splice_Site	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II						purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GGTAGGTCTCTGAAAAATGAA	0.308000													15	52					0	0	0.500413	0	0
FAM47B	170062	broad.mit.edu	37	X	34962575	34962575	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:34962575C>A	ENST00000329357.5	+	1	1663	c.1627C>A	c.(1627-1629)Cgt>Agt	p.R543S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	543										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TAGTGCACAGCGTGGGAGGAT	0.498000													45	53					8.05343e-35	1.07723e-34	0.840704	1	0
GMPPA	29926	broad.mit.edu	37	2	220369977	220369977	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:220369977G>A	ENST00000358215.3	+	8	1017	c.648G>A	c.(646-648)ggG>ggA	p.G216G	GMPPA_ENST00000341142.3_Silent_p.G216G|GMPPA_ENST00000373917.3_Silent_p.G216G|GMPPA_ENST00000313597.5_Silent_p.G216G|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Silent_p.G216G	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	216					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGTGGCCAGGGGCAGGTACCA	0.577000													7	52					0	0	0.278610	0	0
HERC4	26091	broad.mit.edu	37	10	69695987	69695987	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:69695987T>A	ENST00000395198.3	-	23	2848	c.2601A>T	c.(2599-2601)acA>acT	p.T867T	HERC4_ENST00000412272.2_Silent_p.T789T|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.T757T|HERC4_ENST00000373700.4_Silent_p.T859T	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	867	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGTTTTCAACTGTGATCtatt	0.284000													48	171					0	0	0.870114	0	0
USP2	9099	broad.mit.edu	37	11	119243870	119243870	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:119243870G>T	ENST00000260187.2	-	2	615	c.321C>A	c.(319-321)ctC>ctA	p.L107L	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	107	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGCCCCCGCTGAGGCCACTGC	0.637000													32	207					2.08457e-15	2.62036e-15	0.750413	1	0
DCBLD2	131566	broad.mit.edu	37	3	98520447	98520447	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:98520447C>G	ENST00000326840.6	-	14	2079	c.1717G>C	c.(1717-1719)Gca>Cca	p.A573P	DCBLD2_ENST00000326857.9_Missense_Mutation_p.A573P	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	573					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GAGTTACCTGCCCGGTCCCAG	0.458000													10	19					0	0	0.361761	0	0
ACTN4	81	broad.mit.edu	37	19	39215092	39215092	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:39215092C>T	ENST00000252699.2	+	16	1973	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	ACTN4_ENST00000390009.3_Missense_Mutation_p.R414W|ACTN4_ENST00000424234.2_Missense_Mutation_p.R243W	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	633					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTGCCAAAACGGGACCATGC	0.687000													7	33					0	0	0.248553	0	0
PLD5	200150	broad.mit.edu	37	1	242277263	242277263	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:242277263T>A	ENST00000442594.2	-	8	1232	c.723A>T	c.(721-723)atA>atT	p.I241I	PLD5_ENST00000536534.1_Silent_p.I333I|PLD5_ENST00000427495.1_Silent_p.I271I	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	333	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGGCATCATCTATCACACTGT	0.433000													49	127					0	0	0.870114	0	0
SLIT2	9353	broad.mit.edu	37	4	20618727	20618727	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:20618727C>A	ENST00000504154.1	+	35	4294	c.4042C>A	c.(4042-4044)Ccc>Acc	p.P1348T	SLIT2_ENST00000503823.1_Missense_Mutation_p.P1340T|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1361T|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1344T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1348	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CACATGCCAGCCCAGCAGCCA	0.577000													11	34					3.86212e-05	4.18285e-05	0.361761	1	0
IGHG1	3500	broad.mit.edu	37	14	106208278	106208278	+	RNA	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:106208278T>A	ENST00000390548.2	-	0	621																											AGGGCTTTGTTGGAGACCTTG	0.622000													45	339					0	0	0.870114	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056327	26056327	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:26056327C>A	ENST00000343677.2	-	1	372	c.330G>T	c.(328-330)aaG>aaT	p.K110N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	110					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGGAGGCTGCCTTCTTGTTGA	0.567000													9	200					1.12685e-05	1.2463e-05	0.307466	1	0
TECTA	7007	broad.mit.edu	37	11	121016545	121016545	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:121016545C>A	ENST00000392793.1	+	12	4096	c.3825C>A	c.(3823-3825)acC>acA	p.T1275T	TECTA_ENST00000264037.2_Silent_p.T1275T|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1275	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAGGGACACCTTCTGCCAGG	0.592000													52	158					1.81118e-26	2.39198e-26	0.870114	1	0
EIF4EBP1	1978	broad.mit.edu	37	8	37914778	37914778	+	Splice_Site	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:37914778G>T	ENST00000338825.4	+	2	558	c.325_splice	c.e2+1	p.G109_splice	EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1	109					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol				endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				GCGGGCGGGCGGTGAGTGTCG	0.622000													25	106					2.79863e-10	3.3434e-10	0.681144	1	0
SLC4A11	83959	broad.mit.edu	37	20	3209785	3209785	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:3209785G>A	ENST00000380059.3	-	16	2204	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	SLC4A11_ENST00000380056.3_Silent_p.I674I|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.I658I	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	674	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGTTCTGCTCGATGAAGAAGA	0.667000													12	77					0	0	0.387290	0	0
DACH2	117154	broad.mit.edu	37	X	86068180	86068180	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:86068180G>T	ENST00000373131.1	+	8	1561	c.1398G>T	c.(1396-1398)caG>caT	p.Q466H	DACH2_ENST00000510272.1_Missense_Mutation_p.Q260H|DACH2_ENST00000373125.4_Missense_Mutation_p.Q479H|DACH2_ENST00000508860.1_Missense_Mutation_p.Q312H|DACH2_ENST00000477378.2_3'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	479	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGAGAAGCAGATTCAACAAG	0.408000													9	11					2.17888e-05	2.36802e-05	0.335167	1	0
BMP8B	656	broad.mit.edu	37	1	40229411	40229411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:40229411G>T	ENST00000372827.3	-	5	1296	c.921C>A	c.(919-921)taC>taA	p.Y307*	PPIE_ENST00000356511.2_Silent_p.T296T|BMP8B_ENST00000397360.2_Nonsense_Mutation_p.Y332*|PPIE_ENST00000372830.1_3'UTR	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	307					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGAAGCTGACGTAGAGCTCGT	0.562000													106	61					4.60726e-43	6.21583e-43	0.870114	1	0
RNLS	55328	broad.mit.edu	37	10	90122454	90122454	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:90122454C>T	ENST00000371947.3	-	5	1894	c.555G>A	c.(553-555)ctG>ctA	p.L185L	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Silent_p.L185L|RNLS_ENST00000437752.1_Silent_p.L102L	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	185						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TCACAGCCTCCAGTTGCTGCC	0.408000													18	51					0	0	0.624587	0	0
PCSK5	5125	broad.mit.edu	37	9	78749092	78749092	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:78749092G>A	ENST00000545128.1	+	10	1814	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	PCSK5_ENST00000376767.3_Missense_Mutation_p.A426T|PCSK5_ENST00000376752.4_Missense_Mutation_p.A426T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	426	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACATTTGAACGCTAATGACTG	0.418000													6	140					0	0	0.307466	0	0
ROCK2	9475	broad.mit.edu	37	2	11332363	11332363	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:11332363delA	ENST00000315872.6	-	32	4522	c.4074delT	c.(4072-4074)ttfs	p.F1358fs	ROCK2_ENST00000401753.1_Frame_Shift_Del_p.F1115fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1358					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATGATCGGGCAAAAGGGTCTG	0.433													7	406	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106824710	106824710	+	RNA	DEL	T	T	-	rs139188639		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:106824710delT	ENST00000484698.1	-	0	295																											tttttatatcttttttttttt	0.448													4	7	---	---	---	---					
PARP14	54625	broad.mit.edu	37	3	122437687	122437688	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:122437687_122437688insA	ENST00000474629.2	+	14	4955_4956	c.4689_4690insA	c.(4687-4692)aaaaaafs	p.KK1563fs	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1563	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGAGAGAAAAGAAAAAAACAGT	0.366													27	164	---	---	---	---					
PBX2	5089	broad.mit.edu	37	6	32155057	32155058	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:32155057_32155058insG	ENST00000375050.4	-	6	1255_1256	c.985_986insC	c.(985-987)cagfs	p.Q329fs		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	329							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGTGCGGCTGTGGCCCCCCTGG	0.559													17	106	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48761806	48761807	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:48761806_48761807delAG	ENST00000314191.2	-	55	7241_7242	c.7185_7186delCT	c.(7183-7188)ctgtfs	p.LC2395fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.LC2395fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2396					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCTCCAGACAGAGTGTTTTCA	0.495								Non-homologous end-joining					7	256	---	---	---	---					
TRIM51HP	440041	broad.mit.edu	37	11	55065041	55065041	+	RNA	DEL	A	A	-	rs79440813		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:55065041delA	ENST00000526016.1	-	0	384					NR_038174.2																						ATTTTTTTTTAGGAGCTCCTC	0.393													30	75	---	---	---	---					
ADRBK1	156	broad.mit.edu	37	11	67052434	67052435	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:67052434_67052435insG	ENST00000308595.5	+	19	2061_2062	c.1771_1772insG	c.(1771-1773)gggfs	p.G591fs	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	591	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTCGAGTGGCGGGGCGAGGGC	0.688													7	65	---	---	---	---					
FGF23	8074	broad.mit.edu	37	12	4479556	4479557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:4479556_4479557insA	ENST00000237837.1	-	3	853_854	c.708_709insT	c.(706-711)gcggggfs	p.AG236fs		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	236					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCCGTTCCCCCAGCGTGCGTGT	0.649													31	128	---	---	---	---					
DAZAP2	9802	broad.mit.edu	37	12	51634685	51634686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:51634685_51634686insC	ENST00000412716.3	+	3	779_780	c.163_164insC	c.(163-165)tgcfs	p.C55fs	DAZAP2_ENST00000449723.3_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000425012.2_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000549555.1_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000604900.1_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000439799.2_Intron			Q15038	DAZP2_HUMAN	DAZ associated protein 2	55	Pro-rich.						WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						GCACCCAGGGGCTGCCACAGTC	0.510													11	174	---	---	---	---					
LOC100507377	100507377	broad.mit.edu	37	12	74668971	74668971	+	RNA	DEL	G	G	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:74668971delG	ENST00000515416.2	-	0	464				RP11-274M17.3_ENST00000552046.1_RNA																							CCAGGTCGATGGGAAAAGATT	0.448													14	44	---	---	---	---					
GOLGA2P5	55592	broad.mit.edu	37	12	100562920	100562921	+	RNA	INS	-	-	T	rs58822438		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406													2	4	---	---	---	---					
UBE2Q2P2	100134869	broad.mit.edu	37	15	82664400	82664400	+	RNA	DEL	T	T	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:82664400delT	ENST00000420908.3	+	0	233					NR_004847.2																						AACAAAAATCTTTTTTTTTTT	0.308													5	1	---	---	---	---					
CCL8	6355	broad.mit.edu	37	17	32647835	32647835	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:32647835delG	ENST00000394620.1	+	3	675	c.209delG	c.(208-210)cgfs	p.R70fs		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	70					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				AAGACCAAACGGGGCAAGGAG	0.502													7	71	---	---	---	---					
LOC101929950	101929950	broad.mit.edu	37	17	36358976	36358977	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:36358976_36358977insT	ENST00000312412.4	-	6	713_714	c.714_715insA	c.(712-717)acctgtfs	p.C239fs	RP11-1407O15.2_ENST00000544906.1_Frame_Shift_Ins_p.C84fs																kidney(1)|lung(3)	4						GATGTAACAGGTGTGCGGGCAA	0.366													20	514	---	---	---	---					
ASB16	92591	broad.mit.edu	37	17	42254108	42254109	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:42254108_42254109delGC	ENST00000293414.1	+	3	656_657	c.572_573delGC	c.(571-573)tfs	p.C191fs	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	191					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTCCCCAGGTGCGCCAAGTTGC	0.639													48	146	---	---	---	---					
FPR1	2357	broad.mit.edu	37	19	52249531	52249531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:52249531delG	ENST00000595042.1	-	3	858	c.717delC	c.(715-717)ccfs	p.P239fs	FPR1_ENST00000304748.4_Frame_Shift_Del_p.P239fs	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	239					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGACCCGTAAGGGACGACTGG	0.512													27	89	---	---	---	---					
LL22NC03-86D4.1	105373010	broad.mit.edu	37	22	34492089	34492090	+	RNA	INS	-	-	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:34492089_34492090insT	ENST00000412218.1	+	0	114																											ctgccttgctgtttTTTTTTGT	0.366													2	4	---	---	---	---					
