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
ARID5B	84159	broad.mit.edu	37	10	63829502	63829502	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:63829502G>A	ENST00000279873.7	+	8	1555	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D	ARID5B_ENST00000309334.5_Missense_Mutation_p.G139D	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	382	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATGAATTAGGCGGTAATCCT	0.403000													12	58					0	0	0.001855	0	0
SPERT	220082	broad.mit.edu	37	13	46287817	46287817	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:46287817G>A	ENST00000378966.3	+	2	965	c.549G>A	c.(547-549)ctG>ctA	p.L183L	SPERT_ENST00000310521.1_Silent_p.L219L			Q8NA61	SPERT_HUMAN	spermatid associated	219						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCCACTGCTGCACAAAGACA	0.657000													4	47					0	0	0.000248	0	0
CCDC149	91050	broad.mit.edu	37	4	24854761	24854761	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:24854761T>C	ENST00000504487.1	-	4	311	c.305A>G	c.(304-306)aAt>aGt	p.N102S	CCDC149_ENST00000389609.4_Missense_Mutation_p.N102S|CCDC149_ENST00000502801.1_Missense_Mutation_p.N102S|CCDC149_ENST00000428116.2_Missense_Mutation_p.N47S	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	102										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CAGATGTTTATTTCGGTCCTG	0.413000													16	83					0	0	0.006122	0	0
POU4F3	5459	broad.mit.edu	37	5	145719962	145719962	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:145719962C>T	ENST00000230732.4	+	2	1061	c.972C>T	c.(970-972)aaC>aaT	p.N324N	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	324					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTTCTGCAACCAGAGACAGA	0.552000													7	74					0	0	0.004482	0	0
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562000	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			9	75					0	0	0.006214	0	0
IGFALS	3483	broad.mit.edu	37	16	1842153	1842153	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:1842153A>G	ENST00000415638.3	-	2	459	c.380T>C	c.(379-381)gTc>gCc	p.V127A	IGFALS_ENST00000215539.3_Missense_Mutation_p.V89A|IGFALS_ENST00000568221.1_Missense_Mutation_p.S100P	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	89					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TGCCGGGGGGACGGACGAGAG	0.687000													3	40					0	0	0.000602	0	0
KLC2	64837	broad.mit.edu	37	11	66033999	66033999	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:66033999G>A	ENST00000394065.2	+	13	2424	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394067.2_Intron|KLC2_ENST00000421552.1_Intron|KLC2_ENST00000417856.1_Intron|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000316924.5_Intron			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	0					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGGCAGCTGCGGCCGGGGCTG	0.627000													23	35					0	0	0.002299	0	0
ZNF276	92822	broad.mit.edu	37	16	89789017	89789017	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:89789017C>T	ENST00000289816.5	+	2	371	c.59C>T	c.(58-60)tCc>tTc	p.S20F	ZNF276_ENST00000568064.1_Missense_Mutation_p.S20F|ZNF276_ENST00000443381.2_Missense_Mutation_p.S95F|ZNF276_ENST00000446326.2_5'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CGCAGCATCTCCGAGAGGGCG	0.667000													10	94					0	0	0.006214	0	0
SOS1	6654	broad.mit.edu	37	2	39251221	39251221	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:39251221T>A	ENST00000426016.1	-	10	1218	c.1132A>T	c.(1132-1134)Aca>Tca	p.T378S	SOS1_ENST00000428721.2_3'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.T378S|SOS1_ENST00000395038.2_Missense_Mutation_p.T378S			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	378	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AGCAAAGCTGTTATTGCTTGT	0.303000									Noonan syndrome				4	49					0	0	0.000248	0	0
DTNB	1838	broad.mit.edu	37	2	25754408	25754408	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:25754408G>C	ENST00000406818.3	-	9	1184	c.935C>G	c.(934-936)aCg>aGg	p.T312R	DTNB_ENST00000545439.1_Missense_Mutation_p.T108R|DTNB_ENST00000496972.2_Missense_Mutation_p.T255R|DTNB_ENST00000407661.3_Missense_Mutation_p.T312R|DTNB_ENST00000407038.3_Missense_Mutation_p.T312R|DTNB_ENST00000407186.1_Missense_Mutation_p.T312R|DTNB_ENST00000405222.1_Missense_Mutation_p.T312R|DTNB_ENST00000404103.3_Missense_Mutation_p.T312R|DTNB_ENST00000288642.8_Missense_Mutation_p.T312R	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	312						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTTCTCTCGTGGGTACACA	0.438000													16	104					0	0	0.003163	0	0
WTIP	126374	broad.mit.edu	37	19	34984493	34984493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:34984493G>T	ENST00000590071.2	+	5	1334	c.997G>T	c.(997-999)Gag>Tag	p.E333*	WTIP_ENST00000270288.6_Nonsense_Mutation_p.E557*	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGTGGACGTGGAGAACAACAT	0.617000													11	99					0.00829132	0.00950798	0.008291	1	0
LRRN1	57633	broad.mit.edu	37	3	3887531	3887531	+	Silent	SNP	G	G	C	rs147557425	by1000genomes	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:3887531G>C	ENST00000319331.3	+	2	1967	c.1206G>C	c.(1204-1206)ccG>ccC	p.P402P	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	402	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GTGCCATGCCGCCCGAATATA	0.483000													26	79					0	0	0.003954	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603276	140603276	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:140603276G>A	ENST00000239449.4	+	1	199	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		67	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCGGGTAGTGTCTGATGA	0.493000													14	106					0	0	0.001855	0	0
NINL	22981	broad.mit.edu	37	20	25456758	25456758	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:25456758C>T	ENST00000278886.6	-	17	3242	c.3169G>A	c.(3169-3171)Gac>Aac	p.D1057N	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1057					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTTTCCATGTCATCCTTCTCT	0.532000													33	108					0	0	0.002445	0	0
TMEM19	55266	broad.mit.edu	37	12	72091109	72091109	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:72091109A>G	ENST00000266673.5	+	4	1026	c.432A>G	c.(430-432)acA>acG	p.T144T	TMEM19_ENST00000549735.1_Silent_p.T144T|RP11-293I14.2_ENST00000548802.1_3'UTR	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	144						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGTACCCACAGAACTGGCCC	0.468000													27	128					0	0	0.005443	0	0
ACSL1	2180	broad.mit.edu	37	4	185681655	185681655	+	Splice_Site	SNP	C	C	T	rs111329654		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:185681655C>T	ENST00000515030.1	-	18	1964		c.e18-1		ACSL1_ENST00000454703.2_Splice_Site|ACSL1_ENST00000437665.3_Splice_Site|ACSL1_ENST00000281455.2_Splice_Site|ACSL1_ENST00000507295.1_Splice_Site|ACSL1_ENST00000504342.1_Splice_Site|ACSL1_ENST00000513317.1_Splice_Site			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1						digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGTGCCATTCTGTTGATCAG	0.423000													44	337					0	0	0.003610	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965755	88965755	+	Missense_Mutation	SNP	C	C	A	rs76889726	by1000genomes	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:88965755C>A	ENST00000333190.4	+	4	4068	c.3459C>A	c.(3457-3459)gaC>gaA	p.D1153E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1153						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCTCCTGACGAAATAGATA	0.418000										HNSCC(36;0.09)			6	64					5.9392e-07	7.20213e-07	0.001168	1	0
HECW1	23072	broad.mit.edu	37	7	43581558	43581558	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:43581558A>G	ENST00000395891.1	+	26	4814	c.4209A>G	c.(4207-4209)ttA>ttG	p.L1403L	HECW1_ENST00000453890.1_Silent_p.L1369L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1403	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGACATCTTAGACCTCACTT	0.408000													13	65					0	0	0.002450	0	0
RNASEL	6041	broad.mit.edu	37	1	182554927	182554927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:182554927G>A	ENST00000367559.3	-	2	1268	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	RNASEL_ENST00000444138.1_Nonsense_Mutation_p.Q339*|RNASEL_ENST00000539397.1_Nonsense_Mutation_p.Q339*	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	339					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TGTGAGCTCTGAGGCTTCCAG	0.463000													11	84					0	0	0.008291	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	by1000genomes	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2																						AATTTGTCAACATTCGTGACA	0.418000													3	125					0	0	0.000602	0	0
THEM5	284486	broad.mit.edu	37	1	151824773	151824773	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:151824773G>A	ENST00000368817.5	-	2	417	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	96							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGAGTCCCCGGATGTGGTCT	0.542000													19	139					0	0	0.007413	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274379	39274379	+	Silent	SNP	G	G	A	rs411996	by1000genomes	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:39274379G>A	ENST00000391413.2	-	1	227	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	63	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGCGGCAGCAGGTGGGCTGGC	0.657000													9	94					0	0	0.004482	0	0
ESYT1	23344	broad.mit.edu	37	12	56524381	56524381	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:56524381G>A	ENST00000394048.5	+	2	670	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	ESYT1_ENST00000267113.4_Missense_Mutation_p.V136M|ESYT1_ENST00000541590.1_Missense_Mutation_p.V136M	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	136						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTTCCCAGACGTGGAAAAGGC	0.507000													12	76					0	0	0.001368	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414052	121414052	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:121414052G>C	ENST00000393667.3	-	13	5428	c.5318C>G	c.(5317-5319)tCt>tGt	p.S1773C	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1768C	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1768					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCTTGTTTAGATACATTACC	0.393000													20	226					0	0	0.008871	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184294	26184294	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:26184294A>G	ENST00000356530.3	+	1	337	c.271A>G	c.(271-273)Acc>Gcc	p.T91A		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	91					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CTCGACCATCACCTCCAGGGA	0.607000													11	134					0	0	0.001368	0	0
INTS2	57508	broad.mit.edu	37	17	59972740	59972740	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:59972740A>G	ENST00000444766.3	-	12	1598	c.1523T>C	c.(1522-1524)gTa>gCa	p.V508A	INTS2_ENST00000251334.6_Missense_Mutation_p.V500A	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	508					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGGCTTAATTACAATCTAAAA	0.294000													4	15					0	0	0.000248	0	0
CHRNB4	1143	broad.mit.edu	37	15	78917350	78917350	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr15:78917350T>G	ENST00000412074.2	-	5	754	c.643A>C	c.(643-645)Acc>Ccc	p.T215P	CHRNB4_ENST00000261751.3_3'UTR	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	0					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CTGTGGCTGGTTTGATGGGGT	0.572000													9	24					0	0	0.000978	0	0
MORC1	27136	broad.mit.edu	37	3	108746688	108746688	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:108746688G>A	ENST00000232603.5	-	17	1696	c.1614C>T	c.(1612-1614)agC>agT	p.S538S	MORC1_ENST00000483760.1_Silent_p.S538S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	538					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						GTGATATTGTGCTCATGGTGC	0.398000													17	79					0	0	0.004990	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457676	15457676	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:15457676A>G	ENST00000360151.4	-	8	892	c.893T>C	c.(892-894)cTa>cCa	p.L298P		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		CGCTGAGGGTAGAGCTGAGGG	0.562000													3	77					0	0	0.004672	0	0
CSMD1	64478	broad.mit.edu	37	8	4494972	4494972	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr8:4494972C>G	ENST00000520002.1	-	2	749	c.194G>C	c.(193-195)gGc>gCc	p.G65A	CSMD1_ENST00000537824.1_Missense_Mutation_p.G65A|CSMD1_ENST00000602723.1_Missense_Mutation_p.G65A|CSMD1_ENST00000400186.3_Missense_Mutation_p.G65A|CSMD1_ENST00000602557.1_Missense_Mutation_p.G65A|CSMD1_ENST00000542608.1_Missense_Mutation_p.G65A|CSMD1_ENST00000539096.1_Missense_Mutation_p.G65A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	65	CUB 1.					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)		ATTGCGCTCGCCCGTGATGAT	0.473000													18	93					0	0	0.006122	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720046	50720046	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:50720046C>T	ENST00000449103.1	-	21	3611	c.3471G>A	c.(3469-3471)ccG>ccA	p.P1157P	PLXNB2_ENST00000359337.4_Silent_p.P1157P			O15031	PLXB2_HUMAN	plexin B2	1157					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGCTTGGGCGGGGGCTGCA	0.692000													10	67					0	0	0.008291	0	0
ZNF99	7652	broad.mit.edu	37	19	22939799	22939799	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:22939799G>A	ENST00000397104.3	-	6	2531	c.2532C>T	c.(2530-2532)gcC>gcT	p.A844A						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTTCCTAAGGGCTGAGAAAT	0.348000													13	86					0	0	0.001368	0	0
SASS6	163786	broad.mit.edu	37	1	100572486	100572486	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:100572486G>A	ENST00000287482.5	-	12	1530	c.1390C>T	c.(1390-1392)Cta>Tta	p.L464L	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.L297L	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	464					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TTATTTTTTAGAAGTTGTTTG	0.289000													3	20					0	0	0.004672	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													3	80					0	0	0.004672	0	0
ELMO1	9844	broad.mit.edu	37	7	37264509	37264509	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:37264509C>T	ENST00000310758.4	-	9	1323	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	ELMO1_ENST00000442504.1_Missense_Mutation_p.G226S|ELMO1_ENST00000448602.1_Missense_Mutation_p.G226S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	226					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						ATGAGCTGGCCGATGGTGATC	0.532000													24	73					0	0	0.003330	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072462	17072462	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:17072462T>A	ENST00000359963.3	-	1	1238	c.979A>T	c.(979-981)Agt>Tgt	p.S327C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	327					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AACACCTCACTCAGGTAAATG	0.577000													28	221					0	0	0.006320	0	0
SGK1	6446	broad.mit.edu	37	6	134638658	134638658	+	Translation_Start_Site	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:134638658T>C	ENST00000367858.5	-	0	538				SGK1_ENST00000524929.1_De_novo_Start_OutOfFrame	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGTTAGTGCATATCTGTTTCC	0.493000													15	67					0	0	0.002450	0	0
ZAN	7455	broad.mit.edu	37	7	100358081	100358081	+	RNA	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:100358081G>A	ENST00000542585.1	+	0	3912				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCAAGCGGGCGGTTTGTGGAG	0.587000													14	95					0	0	0.004007	0	0
OSGEP	55644	broad.mit.edu	37	14	20917164	20917164	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:20917164G>A	ENST00000555656.1	-	0	1874				OSGEP_ENST00000206542.4_Silent_p.N172N|OSGEP_ENST00000554249.1_De_novo_Start_OutOfFrame			Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase						proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GACTTGGGTCGTTAGAAATCT	0.453000													21	198					0	0	0.002299	0	0
TRPM6	140803	broad.mit.edu	37	9	77370356	77370356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:77370356G>A	ENST00000451710.3	-	28	5056	c.4819C>T	c.(4819-4821)Cag>Tag	p.Q1607*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q1602*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q1607*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Q1607*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.Q558*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q1602*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1607					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGATTCAACTGGTCACTCTGA	0.428000													3	81					0	0	0.004672	0	0
GLO1	2739	broad.mit.edu	37	6	38649810	38649810	+	Silent	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:38649810T>C	ENST00000373365.4	-	5	530	c.444A>G	c.(442-444)aaA>aaG	p.K148K	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	148					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TCTTCACAAATTTGACTCCCA	0.413000													10	75					0	0	0.006214	0	0
TTC13	79573	broad.mit.edu	37	1	231060684	231060684	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:231060684C>T	ENST00000366661.4	-	14	1631	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	TTC13_ENST00000366662.4_Missense_Mutation_p.V489M|TTC13_ENST00000414259.1_Missense_Mutation_p.V489M	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	542							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GTACGCTGCACGGCTTGCATG	0.463000													24	101					0	0	0.002780	0	0
MISP	126353	broad.mit.edu	37	19	758519	758519	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:758519G>T	ENST00000215582.6	+	2	1676	c.1573G>T	c.(1573-1575)Gtc>Ttc	p.V525F		NM_173481.2	NP_775752.1			mitotic spindle positioning																		AGTCCCCCATGTCTGGGGCTG	0.672000													17	58					1.02788e-11	1.26832e-11	0.004990	1	0
MRC2	9902	broad.mit.edu	37	17	60749025	60749025	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:60749025T>A	ENST00000303375.5	+	7	1535	c.1133T>A	c.(1132-1134)gTg>gAg	p.V378E		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	378					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						TGGGCCAATGTGAAGGTGGAG	0.632000													6	42					0	0	0.001168	0	0
STRN4	29888	broad.mit.edu	37	19	47226075	47226075	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:47226075C>T	ENST00000391910.3	-	14	2369	c.1919G>A	c.(1918-1920)gGc>gAc	p.G640D	STRN4_ENST00000263280.6_Missense_Mutation_p.G633D|STRN4_ENST00000539396.1_Missense_Mutation_p.G514D			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	633						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ACCGCTGCTGCCCCGGGACTC	0.627000													23	134					0	0	0.004656	0	0
ZNF334	55713	broad.mit.edu	37	20	45131154	45131154	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:45131154C>T	ENST00000457685.2	-	6	2033	c.710G>A	c.(709-711)cGt>cAt	p.R237H	ZNF334_ENST00000347606.4_Missense_Mutation_p.R275H|ZNF334_ENST00000593880.1_Missense_Mutation_p.R298H			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTCTTCACACGAAAAGTTTT	0.413000													15	113					0	0	0.004007	0	0
TPH1	7166	broad.mit.edu	37	11	18054883	18054883	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:18054883C>G	ENST00000250018.2	-	3	902	c.340G>C	c.(340-342)Gac>Cac	p.D114H	TPH1_ENST00000341556.2_Missense_Mutation_p.D114H	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	114					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGGTCCAGGTCAGAAATCTTC	0.328000													21	157					0	0	0.002299	0	0
NTRK1	4914	broad.mit.edu	37	1	156843527	156843527	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:156843527A>G	ENST00000368196.3	+	8	1073	c.953A>G	c.(952-954)aAt>aGt	p.N318S	NTRK1_ENST00000358660.3_Missense_Mutation_p.N318S|NTRK1_ENST00000524377.1_Missense_Mutation_p.N318S|NTRK1_ENST00000392302.2_Missense_Mutation_p.N288S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	318	Ig-like C2-type 2.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TGGCTCTTCAATGGCTCCGTG	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			5	27					0	0	0.000602	0	0
DNAH3	55567	broad.mit.edu	37	16	20994156	20994156	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:20994156C>T	ENST00000261383.3	-	49	7745	c.7746G>A	c.(7744-7746)tcG>tcA	p.S2582S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2582	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATTGATCAGCGAAGGGAACA	0.483000													13	78					0	0	0.001855	0	0
TRPA1	8989	broad.mit.edu	37	8	72938196	72938196	+	Splice_Site	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr8:72938196A>G	ENST00000262209.4	-	25	3257	c.3051_splice	c.e25+1	p.F1017_splice	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1017						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGTACTTACGAATAACATCCC	0.413000													7	57					0	0	0.001984	0	0
NRXN3	9369	broad.mit.edu	37	14	79933641	79933641	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:79933641C>T	ENST00000281127.7	+	2	1204	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.R109W|NRXN3_ENST00000335750.5_Missense_Mutation_p.R741W|NRXN3_ENST00000428277.2_Missense_Mutation_p.R109W|NRXN3_ENST00000554719.1_Missense_Mutation_p.R741W	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	109	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.R109W(1)|p.R741W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCCCAGCACGCGGTCTGACCG	0.577000													19	94					0	0	0.001523	0	0
DPPA4	55211	broad.mit.edu	37	3	109047778	109047778	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:109047778C>T	ENST00000335658.6	-	6	891	c.837G>A	c.(835-837)ccG>ccA	p.P279P		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	279						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CTTCAAGGTGCGGGGGTGGAA	0.463000													12	40					0	0	0.000978	0	0
OR2T2	401992	broad.mit.edu	37	1	248616314	248616314	+	Silent	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:248616314C>A	ENST00000342927.3	+	1	238	c.216C>A	c.(214-216)acC>acA	p.T72T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATGGATACCATCTACATCT	0.512000													16	189					3.51602e-12	4.364e-12	0.008871	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68701351	68701351	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:68701351G>A	ENST00000255078.3	+	10	1618	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	503					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGAGCTGGAGGAGGAGGACGA	0.562000													7	16					0	0	0.001984	0	0
OR5H14	403273	broad.mit.edu	37	3	97868271	97868271	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:97868271C>T	ENST00000437310.1	+	1	102	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTTTGTTCTCACAGGATTTT	0.403000													18	167					0	0	0.002780	0	0
PTGFRN	5738	broad.mit.edu	37	1	117492010	117492010	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:117492010G>A	ENST00000393203.2	+	4	1176	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	343	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.S343S(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGCACAGCTCGCCTCATGTTG	0.572000													11	89					0	0	0.008291	0	0
MPPED1	758	broad.mit.edu	37	22	43830954	43830954	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:43830954G>A	ENST00000414469.2	+	0	146				MPPED1_ENST00000443721.1_Splice_Site_p.M75_splice|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Splice_Site_p.M108_splice|MPPED1_ENST00000417669.1_Splice_Site_p.M75_splice|MPPED1_ENST00000542779.1_Splice_Site_p.M75_splice			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTCCCTGCAGGGTGGACCCGG	0.647000													15	150					0	0	0.003163	0	0
ZNF483	158399	broad.mit.edu	37	9	114305147	114305147	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:114305147C>T	ENST00000309235.5	+	6	2090	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	644					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGAAAGCCTTCCCAACCCATT	0.388000													9	48					0	0	0.004482	0	0
ERCC3	2071	broad.mit.edu	37	2	128029027	128029027	+	Silent	SNP	T	T	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:128029027T>A	ENST00000493187.2	-	12	2101	c.1638A>T	c.(1636-1638)gtA>gtT	p.V546V	ERCC3_ENST00000285398.2_Silent_p.V610V			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	610	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AAGTGTCACCTACCTACAGAA	0.413000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	118					0	0	0.003080	0	0
SORD	6652	broad.mit.edu	37	15	45353314	45353314	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr15:45353314C>G	ENST00000267814.9	+	4	495	c.315C>G	c.(313-315)ttC>ttG	p.F105L	SORD_ENST00000558580.1_Missense_Mutation_p.F84L	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	105					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	ATGATGAATTCTGCAAGATGG	0.542000													7	57					0	0	0.001984	0	0
SI	6476	broad.mit.edu	37	3	164760860	164760860	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:164760860G>A	ENST00000264382.3	-	17	2053	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	664	Isomaltase.				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)	ATATCCGTCAGAATTATGGTT	0.358000										HNSCC(35;0.089)			14	73					0	0	0.002450	0	0
CARS	833	broad.mit.edu	37	11	3038413	3038413	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:3038413C>A	ENST00000397114.3	-	16	1937	c.1561G>T	c.(1561-1563)Gcc>Tcc	p.A521S	CARS_ENST00000401769.3_Missense_Mutation_p.A544S|CARS_ENST00000278224.9_Missense_Mutation_p.A531S|CARS_ENST00000397111.5_Missense_Mutation_p.A531S|CARS_ENST00000380525.4_Missense_Mutation_p.A614S			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	531					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GCTTTCCGGGCTGCCATATAG	0.577000			T	ALK	ALCL								8	71					5.18039e-06	6.24607e-06	0.003080	1	0
CARS2	79587	broad.mit.edu	37	13	111299462	111299462	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:111299462C>T	ENST00000257347.4	-	11	1242	c.1179G>A	c.(1177-1179)gcG>gcA	p.A393A	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	393					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CCCACAGCATCGCTTCCCTGA	0.672000													3	14					0	0	0.004672	0	0
SYT6	148281	broad.mit.edu	37	1	114680442	114680442	+	Missense_Mutation	SNP	C	C	T	rs139165674	byFrequency	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:114680442C>T	ENST00000393296.1	-	3	823	c.746G>A	c.(745-747)cGt>cAt	p.R249H	SYT6_ENST00000369547.1_Missense_Mutation_p.R164H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	249	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.R164H(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCAGGATACGCACAATCAG	0.542000													32	89					0	0	0.001786	0	0
SIM1	6492	broad.mit.edu	37	6	100901656	100901656	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:100901656C>T	ENST00000369208.3	-	3	1022	c.240G>A	c.(238-240)ctG>ctA	p.L80L	SIM1_ENST00000262901.4_Silent_p.L80L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	80	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATGGGAGCCCAGTTCTCGGC	0.587000													15	92					0	0	0.002450	0	0
ZNF177	7730	broad.mit.edu	37	19	9489013	9489013	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:9489013G>C	ENST00000446085.4	+	6	558	c.26G>C	c.(25-27)tGg>tCg	p.W9S	ZNF177_ENST00000590616.1_Missense_Mutation_p.W9S|ZNF177_ENST00000343499.4_Missense_Mutation_p.W9S|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000589262.1_Missense_Mutation_p.W9S|ZNF177_ENST00000434737.2_Missense_Mutation_p.W9S|ZNF177_ENST00000602738.1_Missense_Mutation_p.W9S|ZNF177_ENST00000602856.1_Missense_Mutation_p.W9S|ZNF177_ENST00000541595.2_Missense_Mutation_p.W9S			Q13360	ZN177_HUMAN	zinc finger protein 177	9					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTGACAACCTGGTCACAGGTA	0.507000													4	52					0	0	0.000248	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	63					0	0	0.004672	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858559	149858559	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:149858559G>C	ENST00000331380.2	+	1	35	c.35G>C	c.(34-36)cGc>cCc	p.R12P		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	12					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCAAGGCCCGCGCCAAGGCC	0.582000													12	128					0	0	0.001368	0	0
ZNF510	22869	broad.mit.edu	37	9	99522337	99522337	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:99522337T>C	ENST00000375231.1	-	6	1425	c.775A>G	c.(775-777)Att>Gtt	p.I259V	ZNF510_ENST00000223428.4_Missense_Mutation_p.I259V			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTTTTCCAATTTTATTACAT	0.303000													6	50					0	0	0.001984	0	0
CDYL2	124359	broad.mit.edu	37	16	80638322	80638322	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:80638322A>G	ENST00000299564.8	-	7	1639	c.1484T>C	c.(1483-1485)cTt>cCt	p.L495P	CDYL2_ENST00000563890.1_Missense_Mutation_p.L496P|CDYL2_ENST00000562812.1_Missense_Mutation_p.L496P|CDYL2_ENST00000566173.1_Missense_Mutation_p.L496P	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	495						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GTAGCTGAAAAGGGAGTCAAG	0.552000													3	129					0	0	0.004672	0	0
HRASLS2	54979	broad.mit.edu	37	11	63326093	63326093	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:63326093G>A	ENST00000255695.1	-	3	216	c.158C>T	c.(157-159)gCc>gTc	p.A53V		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	53					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GTTGGTCAGGGCAGACAGGAC	0.557000													4	162					0	0	0.000248	0	0
CD34	947	broad.mit.edu	37	1	208061164	208061164	+	Silent	SNP	A	A	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:208061164A>T	ENST00000310833.7	-	8	1398	c.1077T>A	c.(1075-1077)gcT>gcA	p.A359A	CD34_ENST00000537704.1_Silent_p.A224A|CD34_ENST00000367036.3_Silent_p.A201A|CD34_ENST00000356522.4_3'UTR|CD34_ENST00000485761.1_Intron	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	359					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CGTTTTCCTGAGCCCCTCGGT	0.592000													5	53					0	0	0.000602	0	0
PWP1	11137	broad.mit.edu	37	12	108102726	108102726	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:108102726A>G	ENST00000412830.3	+	12	1269	c.1101A>G	c.(1099-1101)gtA>gtG	p.V367V	PWP1_ENST00000541166.1_Silent_p.V305V	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	367					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ACGGCTTTGTATATAATTTGG	0.368000													5	34					0	0	0.000602	0	0
LPAR6	10161	broad.mit.edu	37	13	48985944	48985944	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:48985944T>C	ENST00000378434.4	-	7	2240	c.616A>G	c.(616-618)Atg>Gtg	p.M206V	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.M206V	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTTAGCACCATACTAGAACAA	0.284000													5	38					0	0	0.000602	0	0
COCH	1690	broad.mit.edu	37	14	31348049	31348049	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:31348049G>A	ENST00000396618.3	+	5	328	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	COCH_ENST00000475087.1_Missense_Mutation_p.R91Q|COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|COCH_ENST00000460581.2_5'UTR|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	91	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGACCTGTACGAGTCTATAGC	0.458000													17	81					0	0	0.004007	0	0
ATP11C	286410	broad.mit.edu	37	X	138886713	138886713	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:138886713C>A	ENST00000370557.1	-	6	1499	c.472G>T	c.(472-474)Gat>Tat	p.D158Y	ATP11C_ENST00000361648.2_Missense_Mutation_p.D161Y|ATP11C_ENST00000359686.2_Missense_Mutation_p.D161Y|ATP11C_ENST00000327569.3_Missense_Mutation_p.D161Y|ATP11C_ENST00000370543.1_Missense_Mutation_p.D161Y			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	161					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGAATAAGATCACAGGGAAAG	0.368000													17	81					1.56452e-12	1.95334e-12	0.007413	1	0
NOTCH1	4851	broad.mit.edu	37	9	139392011	139392011	+	Splice_Site	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:139392011C>T	ENST00000277541.6	-	34	6256		c.e34-1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGTCTCCTCCTGGGGGATGA	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	23					0	0	0.000248	0	0
ZNF318	24149	broad.mit.edu	37	6	43322834	43322834	+	Silent	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:43322834T>C	ENST00000361428.2	-	4	2315	c.2238A>G	c.(2236-2238)ccA>ccG	p.P746P	ZNF318_ENST00000318149.3_Silent_p.P746P	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	746					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTGGGGCAGATGGGGCTGATG	0.512000													17	81					0	0	0.004007	0	0
DIS3	22894	broad.mit.edu	37	13	73334727	73334727	+	Silent	SNP	G	G	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:73334727G>T	ENST00000377767.4	-	20	2833	c.2733C>A	c.(2731-2733)atC>atA	p.I911I	DIS3_ENST00000545453.1_Silent_p.I749I|DIS3_ENST00000377780.4_Silent_p.I881I	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	911					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AGTCTAACATGATTTTCACTT	0.333000										Multiple Myeloma(4;0.011)			12	57					6.40141e-05	7.58819e-05	0.000978	1	0
RGPD4	285190	broad.mit.edu	37	2	108487680	108487680	+	Missense_Mutation	SNP	G	G	A	rs2919157		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:108487680G>A	ENST00000408999.3	+	20	3297	c.3220G>A	c.(3220-3222)Gta>Ata	p.V1074I	RGPD4_ENST00000354986.4_Missense_Mutation_p.V1074I	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1074	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGATGCTGAGGTAAGGCAGTG	0.383000													71	513					0	0	0.003610	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48597049	48597049	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:48597049G>A	ENST00000323776.5	+	7	1108	c.946G>A	c.(946-948)Gag>Aag	p.E316K	MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E279K	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	279					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CTTGGGAGATGAGATGACAGG	0.547000													7	44					0	0	0.003080	0	0
ZNF831	128611	broad.mit.edu	37	20	57767313	57767313	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:57767313C>T	ENST00000371030.2	+	1	1239	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	413						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCTCATCTCCCACAACCAGG	0.711000													5	17					0	0	0.000602	0	0
SNRNP25	79622	broad.mit.edu	37	16	104045	104045	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:104045A>G	ENST00000383018.3	+	1	217	c.56A>G	c.(55-57)gAt>gGt	p.D19G	SNRNP25_ENST00000493672.1_3'UTR	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	19					mRNA processing	U12-type spliceosomal complex				large_intestine(1)|lung(2)	3						CTGCTCTGCGATCTGCCGATC	0.701000													5	22					0	0	0.001984	0	0
FARSA	2193	broad.mit.edu	37	19	13035607	13035607	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:13035607C>T	ENST00000588025.1	-	11	1301	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	FARSA_ENST00000423140.2_Silent_p.P316P|FARSA_ENST00000314606.4_Silent_p.P347P			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	347					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	AGTACTTGACCGGAGTGAAGG	0.632000													12	161					0	0	0.000978	0	0
MUC5AC	4586	broad.mit.edu	37	11	1156593	1156593	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:1156593G>A	ENST00000356191.2	+	9	604	c.604G>A	c.(604-606)Gcc>Acc	p.A202T						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CACCAAATACGCCAACAAGAC	0.607000													13	101					0	0	0.003163	0	0
FAM135A	57579	broad.mit.edu	37	6	71232224	71232224	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:71232224A>G	ENST00000418814.2	+	13	1652	c.1038A>G	c.(1036-1038)agA>agG	p.R346R	FAM135A_ENST00000370479.3_Silent_p.R329R|FAM135A_ENST00000505868.1_Silent_p.R346R|FAM135A_ENST00000457062.2_Silent_p.R329R|FAM135A_ENST00000505769.1_Silent_p.R346R|FAM135A_ENST00000361499.3_Silent_p.R346R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	346										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGGTACGCAGATTTTCTGAGG	0.348000													14	144					0	0	0.004990	0	0
TEX10	54881	broad.mit.edu	37	9	103070951	103070951	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:103070951C>T	ENST00000374902.4	-	13	2472	c.2296G>A	c.(2296-2298)Gta>Ata	p.V766I	TEX10_ENST00000535814.1_Missense_Mutation_p.V769I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	766						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TCAGGAATTACAGTCAACCCA	0.428000													15	55					0	0	0.002450	0	0
DENND1C	79958	broad.mit.edu	37	19	6476960	6476960	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:6476960C>T	ENST00000381480.2	-	10	698	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	DENND1C_ENST00000543576.1_Missense_Mutation_p.V152M	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	196	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ACGGCCACCACCAGCTCCGTT	0.642000													12	40					0	0	0.000978	0	0
GDPD3	79153	broad.mit.edu	37	16	30124100	30124100	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:30124100C>A	ENST00000406256.3	-	3	574	c.197G>T	c.(196-198)cGc>cTc	p.R66L		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	66	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GAGGTCCGAGCGCTGGGCCAT	0.652000											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	82					3.59834e-05	4.31391e-05	0.001168	1	0
GOLT1B	51026	broad.mit.edu	37	12	21668638	21668638	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:21668638A>G	ENST00000229314.5	+	5	523	c.414A>G	c.(412-414)gtA>gtG	p.V138V	GOLT1B_ENST00000540141.1_3'UTR|GOLT1B_ENST00000535593.1_3'UTR|GOLT1B_ENST00000542038.1_Silent_p.V74V	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	138					positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						ACAATATGGTATAACAACAAG	0.264000													8	58					0	0	0.003080	0	0
RGAG1	57529	broad.mit.edu	37	X	109696314	109696314	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:109696314G>A	ENST00000465301.2	+	3	2715	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	RGAG1_ENST00000540313.1_Missense_Mutation_p.M823I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	823										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCCACAAATGACAGCCACAG	0.532000													31	91					0	0	0.001786	0	0
ALAS2	212	broad.mit.edu	37	X	55042039	55042039	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:55042039A>C	ENST00000330807.5	-	8	1277	c.1140T>G	c.(1138-1140)caT>caG	p.H380Q	ALAS2_ENST00000335854.4_Missense_Mutation_p.H343Q|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.H367Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	380					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TGTCAATCTTATGCATAATTC	0.517000													10	39					0	0	0.008291	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139185	126139185	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:126139185T>A	ENST00000299308.3	+	9	3174	c.3166T>A	c.(3166-3168)Tgc>Agc	p.C1056S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.C568S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1056						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAAGTGGGTCTGCCAAGATAT	0.473000													4	75					0	0	0.000248	0	0
LTBP2	4053	broad.mit.edu	37	14	74968216	74968216	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:74968216G>A	ENST00000261978.4	-	35	5634	c.5248C>T	c.(5248-5250)Cgc>Tgc	p.R1750C	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1706C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1750	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCCGCACGCGCACACAGCGG	0.617000											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	169					0	0	0.000602	0	0
BMPER	168667	broad.mit.edu	37	7	34118721	34118721	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:34118721G>A	ENST00000297161.2	+	13	1705	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	BMPER_ENST00000426693.1_Missense_Mutation_p.R444H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	444	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AACGGCTCGCGCATCGCGCTC	0.662000													4	102					0	0	0.000248	0	0
NOTCH1	4851	broad.mit.edu	37	9	139400000	139400000	+	Nonsense_Mutation	SNP	C	C	A	rs147841035	by1000genomes	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:139400000C>A	ENST00000277541.6	-	25	4423	c.4348G>T	c.(4348-4350)Gag>Tag	p.E1450*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1450					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGGGCAGCTCGCACGCCTCC	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	47					0.000442599	0.000521723	0.006214	1	0
TUBA1B	10376	broad.mit.edu	37	12	49521800	49521800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:49521800C>A	ENST00000336023.5	-	4	1391	c.1297G>T	c.(1297-1299)Gag>Tag	p.E433*	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	433					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CCAACCTCCTCATAATCCTTC	0.517000													29	168					1.88708e-17	2.37009e-17	0.008361	1	0
CNGB3	54714	broad.mit.edu	37	8	87645051	87645051	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr8:87645051A>C	ENST00000320005.5	-	11	1296	c.1249T>G	c.(1249-1251)Tta>Gta	p.L417V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	417					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATTTCAAATAAAGTTTGTGGT	0.343000													17	33					0	0	0.004007	0	0
MITF	4286	broad.mit.edu	37	3	70008500	70008500	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:70008500C>T	ENST00000352241.4	+	9	1253	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	MITF_ENST00000472437.1_Missense_Mutation_p.R312C|MITF_ENST00000394351.3_Missense_Mutation_p.R263C|MITF_ENST00000328528.6_Missense_Mutation_p.R363C|MITF_ENST00000314589.5_Missense_Mutation_p.R348C|MITF_ENST00000314557.6_Missense_Mutation_p.R257C|MITF_ENST00000448226.2_Missense_Mutation_p.R370C|MITF_ENST00000394355.2_Missense_Mutation_p.R339C|MITF_ENST00000531774.1_Missense_Mutation_p.R201C	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	370	Helix-loop-helix motif.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AGAACAGCAACGCGCAAAAGA	0.463000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						8	35					0	0	0.003080	0	0
SLC6A11	6538	broad.mit.edu	37	3	10974928	10974928	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:10974928G>A	ENST00000254488.2	+	11	1529	c.1463G>A	c.(1462-1464)gGc>gAc	p.G488D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	488					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ATCTGCATCGGCTGGGTGTAT	0.582000													4	171					0	0	0.000248	0	0
TAF1	6872	broad.mit.edu	37	X	70604857	70604857	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:70604857A>G	ENST00000449580.1	+	14	2232	c.2181A>G	c.(2179-2181)acA>acG	p.T727T	TAF1_ENST00000373790.4_Silent_p.T727T|TAF1_ENST00000423759.1_Silent_p.T748T|TAF1_ENST00000276072.3_Silent_p.T748T			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	727					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)				ACTGCCATACATCTCCTTTCC	0.393000													11	38					0	0	0.001368	0	0
ESPNL	339768	broad.mit.edu	37	2	239040108	239040108	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:239040108G>A	ENST00000343063.3	+	9	3016	c.2753G>A	c.(2752-2754)gGc>gAc	p.G918D	ESPNL_ENST00000409506.1_Missense_Mutation_p.G550D|ESPNL_ENST00000409169.1_Missense_Mutation_p.G874D|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	918										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGACCGACGGCTTCGAGGAC	0.706000													3	35					0	0	0.004672	0	0
CRB2	286204	broad.mit.edu	37	9	126137517	126137517	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:126137517C>T	ENST00000373631.3	+	12	3529	c.3528C>T	c.(3526-3528)ccC>ccT	p.P1176P	CRB2_ENST00000373629.2_Silent_p.P844P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	1176	EGF-like 15.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCACTCTCCCCTGTGAAGCCA	0.627000													8	91					0	0	0.004482	0	0
DHX29	54505	broad.mit.edu	37	5	54565331	54565331	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:54565331C>T	ENST00000251636.5	-	21	3352	c.3204G>A	c.(3202-3204)ccG>ccA	p.P1068P	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1068							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTTGGCCCAACGGAGTCAGTT	0.443000													7	32					0	0	0.001984	0	0
PCDH15	65217	broad.mit.edu	37	10	55600185	55600185	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:55600185C>A	ENST00000373965.2	-	30	4293	c.3899G>T	c.(3898-3900)cGg>cTg	p.R1300L	PCDH15_ENST00000395430.1_Missense_Mutation_p.R1293L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1222L|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1271L|PCDH15_ENST00000409834.1_Missense_Mutation_p.R904L|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1293L|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1293L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1293L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1256L|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1300L|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1298L|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1293					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATCTCCATGCCGGCGAGCTCC	0.448000										HNSCC(58;0.16)			11	71					0.00829132	0.00950798	0.008291	1	0
GDPD3	79153	broad.mit.edu	37	16	30124099	30124099	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:30124099G>A	ENST00000406256.3	-	3	575	c.198C>T	c.(196-198)cgC>cgT	p.R66R		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	66	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGAGGTCCGAGCGCTGGGCCA	0.652000											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	84					0	0	0.001168	0	0
THSD4	79875	broad.mit.edu	37	15	72030124	72030124	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr15:72030124G>A	ENST00000355327.3	+	11	1818	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.E202K|THSD4_ENST00000261862.6_Missense_Mutation_p.E562K			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	562						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAGGAGGGAGAACAGAAAGG	0.562000													11	62					0	0	0.000978	0	0
MYO7A	4647	broad.mit.edu	37	11	76919561	76919561	+	Splice_Site	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:76919561C>T	ENST00000409709.3	+	43	6215	c.5944_splice	c.e43+1	p.D1981_splice	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Splice_Site_p.D1943_splice|MYO7A_ENST00000409619.2_Splice_Site_p.D1932_splice	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1981	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCATCAAGGACGGTAATGAGG	0.597000													3	21					0	0	0.004672	0	0
HMCN1	83872	broad.mit.edu	37	1	186136045	186136045	+	Missense_Mutation	SNP	G	G	A	rs148826584	by1000genomes	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:186136045G>A	ENST00000271588.4	+	100	15774	c.15545G>A	c.(15544-15546)cGa>cAa	p.R5182Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5182Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5182	EGF-like 2; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTGGCTTTCGAAGAACCTCT	0.458000													10	68					0	0	0.006214	0	0
KMT2B	9757	broad.mit.edu	37	19	36212436	36212436	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:36212436C>T	ENST00000420124.1	+	3	2187	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.N729N																							CTCTGAGCAACGGGCCACAGA	0.662000													6	60					0	0	0.001984	0	0
IPO11	51194	broad.mit.edu	37	5	61779883	61779883	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:61779883C>G	ENST00000325324.6	+	11	1237	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.F396L	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	356						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGATGGCATTCTTCACATATC	0.353000													9	62					0	0	0.004482	0	0
LZTR1	8216	broad.mit.edu	37	22	21348279	21348279	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:21348279A>G	ENST00000215739.8	+	13	1779	c.1420A>G	c.(1420-1422)Atc>Gtc	p.I474V	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.I455V	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	474	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCGCAGGAAGATCACGCAGGC	0.647000													6	31					0	0	0.001168	0	0
MYH7	4625	broad.mit.edu	37	14	23887505	23887505	+	Silent	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652000													3	136					0	0	0.000248	0	0
ITGAX	3687	broad.mit.edu	37	16	31383062	31383062	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:31383062T>C	ENST00000268296.4	+	17	2238	c.2117T>C	c.(2116-2118)cTc>cCc	p.L706P	ITGAX_ENST00000562522.1_Missense_Mutation_p.L706P	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	706					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTCCGAGTCCTCGGGCTGAAG	0.652000													7	85					0	0	0.001984	0	0
ABI3BP	25890	broad.mit.edu	37	3	100469363	100469363	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:100469363C>T	ENST00000471714.1	-	67	5419	c.5310G>A	c.(5308-5310)ggG>ggA	p.G1770G	ABI3BP_ENST00000284322.5_Silent_p.G1068G|ABI3BP_ENST00000383691.4_Silent_p.G1022G			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	1068						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GAATTGTAGTCCCACATTCAT	0.388000													9	130					0	0	0.008291	0	0
SLC8A1	6546	broad.mit.edu	37	2	40397431	40397431	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:40397431G>A	ENST00000542756.1	-	6	2036	c.2013C>T	c.(2011-2013)atC>atT	p.I671I	SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Silent_p.I671I|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000403092.1_Silent_p.I676I|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000332839.4_Silent_p.I676I|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000408028.2_Silent_p.I668I|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	676					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	CTGCAATGGTGATTACAGTAG	0.433000													8	56					0	0	0.003080	0	0
TMEM106B	54664	broad.mit.edu	37	7	12258148	12258148	+	Splice_Site	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:12258148G>A	ENST00000396667.2	+	4	603		c.e4+1		TMEM106B_ENST00000396668.3_Splice_Site	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B							integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		CAAGAAGAACGTAAGTGATTC	0.279000													10	30					0	0	0.008291	0	0
C9orf3	84909	broad.mit.edu	37	9	97535328	97535328	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:97535328T>C	ENST00000375315.2	+	2	842	c.842T>C	c.(841-843)cTt>cCt	p.L281P	C9orf3_ENST00000277198.2_Missense_Mutation_p.L281P|C9orf3_ENST00000297979.5_Missense_Mutation_p.L281P	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	281					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AACAGGGCCCTTTTTCCATGC	0.463000													3	165					0	0	0.004672	0	0
CA10	56934	broad.mit.edu	37	17	49825158	49825158	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:49825158G>A	ENST00000451037.2	-	4	1240	c.300C>T	c.(298-300)aaC>aaT	p.N100N	CA10_ENST00000570565.1_Silent_p.N25N|CA10_ENST00000285273.4_Silent_p.N100N|CA10_ENST00000442502.2_Silent_p.N100N|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Silent_p.N106N	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	100					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTCTTCCAGTGTTGTACATGG	0.542000													11	81					0	0	0.001368	0	0
DPPA2	151871	broad.mit.edu	37	3	109023367	109023367	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:109023367G>T	ENST00000478945.1	-	7	1055	c.809C>A	c.(808-810)tCc>tAc	p.S270Y		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	270						nucleus	nucleic acid binding	p.S270F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TATGCCTGGGGATGGGAAAAT	0.478000													17	53					9.16793e-09	1.11817e-08	0.004990	1	0
RNF111	54778	broad.mit.edu	37	15	59373425	59373425	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr15:59373425C>T	ENST00000348370.4	+	8	2672	c.2239C>T	c.(2239-2241)Cct>Tct	p.P747S	RNF111_ENST00000434298.1_Missense_Mutation_p.P747S|RNF111_ENST00000561186.1_Missense_Mutation_p.P747S|RNF111_ENST00000559209.1_Missense_Mutation_p.P747S|RNF111_ENST00000557998.1_Missense_Mutation_p.P747S	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	747	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GAGACTGCATCCTCATGAAGT	0.463000													11	83					0	0	0.008291	0	0
KIAA0319	9856	broad.mit.edu	37	6	24564520	24564520	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:24564520G>C	ENST00000535378.1	-	16	2956	c.2314C>G	c.(2314-2316)Ctg>Gtg	p.L772V	KIAA0319_ENST00000430948.2_Missense_Mutation_p.L736V|KIAA0319_ENST00000543707.1_Missense_Mutation_p.L781V|KIAA0319_ENST00000537886.1_Missense_Mutation_p.L781V|KIAA0319_ENST00000378214.3_Missense_Mutation_p.L781V	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	781	PKD 5.				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						CCCTCCACCAGATTCGTAAGC	0.567000													14	86					0	0	0.003163	0	0
SCN3B	55800	broad.mit.edu	37	11	123516409	123516409	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:123516409G>A	ENST00000392770.2	-	2	907	c.105C>T	c.(103-105)gcC>gcT	p.A35A	SCN3B_ENST00000299333.3_Silent_p.A35A|SCN3B_ENST00000530277.1_Silent_p.A35A	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	35	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TGCCCTGCACGGCCTCCGTCT	0.627000													15	100					0	0	0.002450	0	0
GMPR2	51292	broad.mit.edu	37	14	24702464	24702464	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:24702464C>T	ENST00000557854.1	+	1	336	c.59C>T	c.(58-60)cCt>cTt	p.P20L	GMPR2_ENST00000420554.2_Missense_Mutation_p.P20L|GMPR2_ENST00000355299.4_Missense_Mutation_p.P2L|GMPR2_ENST00000559910.1_Missense_Mutation_p.P2L|GMPR2_ENST00000559836.1_Missense_Mutation_p.P2L|GMPR2_ENST00000399440.2_Missense_Mutation_p.P2L|GMPR2_ENST00000456667.3_Missense_Mutation_p.P2L|GMPR2_ENST00000559104.1_Missense_Mutation_p.P20L|GMPR2_ENST00000348719.7_Missense_Mutation_p.P2L			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	2					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AGCGCCATGCCTCATATTGAC	0.517000													79	341					0	0	0.003610	0	0
GIGYF2	26058	broad.mit.edu	37	2	233675989	233675989	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:233675989A>C	ENST00000373566.3	+	18	2197	c.2000A>C	c.(1999-2001)aAa>aCa	p.K667T	GIGYF2_ENST00000409547.1_Missense_Mutation_p.K645T|GIGYF2_ENST00000409480.1_Missense_Mutation_p.K667T|GIGYF2_ENST00000452341.2_Missense_Mutation_p.K476T|GIGYF2_ENST00000409451.3_Missense_Mutation_p.K666T|GIGYF2_ENST00000409196.3_Missense_Mutation_p.K639T|GIGYF2_ENST00000373563.4_Missense_Mutation_p.K645T			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	645	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAACAGCAGAAAGCAGCACTG	0.423000													7	60					0	0	0.001984	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904539	144904539	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:144904539C>T	ENST00000370490.1	+	1	4851	c.596C>T	c.(595-597)gCt>gTt	p.A199V	SLITRK2_ENST00000447897.2_Missense_Mutation_p.A199V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.A199V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A199V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.A199V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	199						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCTTTTGCTGGCGTCCTT	0.483000													22	79					0	0	0.001882	0	0
NUP98	4928	broad.mit.edu	37	11	3697423	3697423	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:3697423G>A	ENST00000324932.7	-	33	5789	c.5369C>T	c.(5368-5370)tCc>tTc	p.S1790F	NUP98_ENST00000355260.3_Missense_Mutation_p.S1716F|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1807					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCGCAGATAGGACTGGGTAAG	0.587000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								11	60					0	0	0.008291	0	0
DHX9	1660	broad.mit.edu	37	1	182812531	182812531	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:182812531A>G	ENST00000367549.3	+	3	324	c.214A>G	c.(214-216)Ata>Gta	p.I72V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	72	Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TTTGGTTCGAATAAATGAAAT	0.378000													7	74					0	0	0.003080	0	0
AP1B1	162	broad.mit.edu	37	22	29754833	29754833	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:29754833T>A	ENST00000357586.2	-	5	593	c.407A>T	c.(406-408)tAt>tTt	p.Y136F	AP1B1_ENST00000415447.1_Missense_Mutation_p.Y136F|AP1B1_ENST00000405198.1_Missense_Mutation_p.Y136F|AP1B1_ENST00000432560.2_Missense_Mutation_p.Y136F|AP1B1_ENST00000402502.1_Missense_Mutation_p.Y136F|AP1B1_ENST00000317368.7_Missense_Mutation_p.Y136F|AP1B1_ENST00000356015.2_Missense_Mutation_p.Y136F	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	136					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTGCGCACATATGGATCCTC	0.602000													11	40					0	0	0.008291	0	0
OR2T2	401992	broad.mit.edu	37	1	248616457	248616457	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:248616457C>A	ENST00000342927.3	+	1	381	c.359C>A	c.(358-360)gCc>gAc	p.A120D		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTCTCATGGCCTATGACCGC	0.547000													12	130					5.01169e-05	5.97439e-05	0.004990	1	0
AHI1	54806	broad.mit.edu	37	6	135778701	135778701	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:135778701A>G	ENST00000367800.4	-	7	1298	c.1082T>C	c.(1081-1083)aTt>aCt	p.I361T	AHI1_ENST00000457866.2_Missense_Mutation_p.I361T|AHI1_ENST00000327035.6_Missense_Mutation_p.I361T	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	361						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGGGTGAGAAATCATAAAATC	0.358000													15	64					0	0	0.002450	0	0
PLCH1	23007	broad.mit.edu	37	3	155314050	155314050	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:155314050C>T	ENST00000460012.1	-	3	464	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	PLCH1_ENST00000447496.2_Missense_Mutation_p.R54Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R36Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R54Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R36Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R54Q			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	54	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTAGAGGGTCGCCATCGGAG	0.498000													55	195					0	0	0.003610	0	0
CRISP3	10321	broad.mit.edu	37	6	49704206	49704206	+	Silent	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:49704206A>G	ENST00000433368.2	-	3	225	c.156T>C	c.(154-156)acT>acC	p.T52T	CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Silent_p.T29T|CRISP3_ENST00000371159.4_Silent_p.T60T|CRISP3_ENST00000263045.4_Silent_p.T42T	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	29					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTAACAAAGCAGTAAAAGCGG	0.378000													23	190					0	0	0.001882	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882145	228882145	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:228882145C>G	ENST00000392056.3	-	7	3471	c.3425G>C	c.(3424-3426)aGa>aCa	p.R1142T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1142T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1142						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCAAATCCTCTCCCTTCATT	0.527000													9	46					0	0	0.006214	0	0
TEX29	121793	broad.mit.edu	37	13	111973249	111973249	+	Silent	SNP	G	G	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:111973249G>T	ENST00000283547.1	+	2	141	c.12G>T	c.(10-12)gtG>gtT	p.V4V		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	4						integral to membrane											TGGAATACGTGCTGGAAGTGA	0.642000													5	108					0.000602214	0.000702029	0.000602	1	0
CAMTA2	23125	broad.mit.edu	37	17	4873662	4873662	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:4873662T>C	ENST00000361571.5	-	16	3386	c.2975A>G	c.(2974-2976)gAc>gGc	p.D992G	CAMTA2_ENST00000381311.5_Missense_Mutation_p.D995G|CAMTA2_ENST00000572543.1_Missense_Mutation_p.D998G|CAMTA2_ENST00000358183.4_Missense_Mutation_p.D993G|CAMTA2_ENST00000348066.3_Missense_Mutation_p.D993G|CAMTA2_ENST00000414043.3_Missense_Mutation_p.D1016G	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	993					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGGAAATGGTCCACATTCTC	0.602000													3	108					0	0	0.000248	0	0
UNC79	57578	broad.mit.edu	37	14	94089060	94089060	+	Silent	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:94089060C>T	ENST00000553484.1	+	31	5701	c.5547C>T	c.(5545-5547)tcC>tcT	p.S1849S	UNC79_ENST00000393151.2_Silent_p.S1827S|UNC79_ENST00000256339.4_Silent_p.S1650S|UNC79_ENST00000555664.1_Silent_p.S1827S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1827						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGAGGAATCCGAATTTAAGA	0.473000													7	46					0	0	0.001984	0	0
SCN3B	55800	broad.mit.edu	37	11	123516410	123516410	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:123516410G>A	ENST00000392770.2	-	2	906	c.104C>T	c.(103-105)gCc>gTc	p.A35V	SCN3B_ENST00000299333.3_Missense_Mutation_p.A35V|SCN3B_ENST00000530277.1_Missense_Mutation_p.A35V	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	35	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GCCCTGCACGGCCTCCGTCTC	0.627000													15	100					0	0	0.002450	0	0
SULT1C2	6819	broad.mit.edu	37	2	108924864	108924864	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:108924864G>A	ENST00000326853.5	+	9	1321	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	SULT1C2_ENST00000437390.2_Missense_Mutation_p.E293K|SULT1C2_ENST00000251481.6_Missense_Mutation_p.E279K|SULT1C2_ENST00000409880.1_Missense_Mutation_p.E242K	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	279					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GAGGTTTGATGAAATCTATAG	0.413000													9	86					0	0	0.008291	0	0
STEAP4	79689	broad.mit.edu	37	7	87913347	87913347	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:87913347C>T	ENST00000380079.4	-	2	339	c.238G>A	c.(238-240)Gca>Aca	p.A80T	AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.A80T|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.A80T|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	80					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTGTGGATTGCTATGATTATG	0.413000													11	94					0	0	0.000978	0	0
ZNF676	163223	broad.mit.edu	37	19	22363559	22363559	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:22363559C>G	ENST00000397121.2	-	3	1277	c.960G>C	c.(958-960)tgG>tgC	p.W320C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGCTTGAGGACCAGCTGAAGG	0.433000													11	105					0	0	0.001855	0	0
SPATA21	374955	broad.mit.edu	37	1	16727317	16727317	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:16727317G>A	ENST00000335496.1	-	11	1554	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	SPATA21_ENST00000540400.1_Missense_Mutation_p.R335W|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	358							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TTCTGCAACCGCAGCCGGCCT	0.582000													6	264					0	0	0.001168	0	0
ZNF503	84858	broad.mit.edu	37	10	77160129	77160129	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:77160129C>G	ENST00000372524.4	-	2	805	c.319G>C	c.(319-321)Gat>Cat	p.D107H	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.D107H	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TTCTTGGCATCGAGCTGCGGG	0.597000													8	45					0	0	0.003080	0	0
ASF1B	55723	broad.mit.edu	37	19	14247232	14247232	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:14247232C>T	ENST00000263382.3	-	1	536	c.37G>A	c.(37-39)Gag>Aag	p.E13K	ASF1B_ENST00000474890.1_Missense_Mutation_p.E13K|ASF1B_ENST00000592798.1_Missense_Mutation_p.E13K	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	13	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CTCGGGTTCTCCAGGACCGCC	0.716000													13	49					0	0	0.001855	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762312	130762312	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:130762312G>A	ENST00000392429.1	+	2	3123	c.745G>A	c.(745-747)Gac>Aac	p.D249N	TMEM200A_ENST00000296978.3_Missense_Mutation_p.D249N|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D249N	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	249						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTGCTCTCTGACAGCTCTGT	0.463000													10	82					0	0	0.006214	0	0
STXBP3	6814	broad.mit.edu	37	1	109340774	109340774	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:109340774A>C	ENST00000370008.3	+	16	1414	c.1364A>C	c.(1363-1365)cAa>cCa	p.Q455P		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	455					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TAGTCTCAACAAGGCAAACCG	0.313000													29	113					0	0	0.002096	0	0
FSTL5	56884	broad.mit.edu	37	4	162306902	162306902	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:162306902G>A	ENST00000306100.5	-	16	2977	c.2541C>T	c.(2539-2541)gcC>gcT	p.A847A	FSTL5_ENST00000427802.2_Silent_p.A837A|FSTL5_ENST00000379164.4_Silent_p.A846A|FSTL5_ENST00000536695.1_Silent_p.A846A|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	847						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGGGTTTTTAGGCATCTCCAA	0.338000													10	81					0	0	0.006214	0	0
PFKFB3	5209	broad.mit.edu	37	10	6255710	6255710	+	Splice_Site	SNP	A	A	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:6255710A>G	ENST00000379775.4	+	2	531	c.202_splice	c.e2+1	p.K67_splice	PFKFB3_ENST00000379785.1_Splice_Site_p.K67_splice|PFKFB3_ENST00000360521.2_Splice_Site_p.K67_splice|PFKFB3_ENST00000317350.4_Splice_Site_p.K67_splice|PFKFB3_ENST00000379782.3_Splice_Site_p.K67_splice|PFKFB3_ENST00000540253.1_Splice_Site_p.K81_splice|PFKFB3_ENST00000536985.1_Splice_Site_p.K47_splice|PFKFB3_ENST00000379789.4_Splice_Site_p.K47_splice	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	67	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TCCCCACAAAAGGTGAGACTG	0.612000													3	158					0	0	0.004672	0	0
SIM1	6492	broad.mit.edu	37	6	100838427	100838427	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:100838427T>C	ENST00000369208.3	-	12	2893	c.2111A>G	c.(2110-2112)cAg>cGg	p.Q704R	SIM1_ENST00000262901.4_Missense_Mutation_p.Q704R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	704	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCAAAATACTGCCGGTGAGA	0.448000													11	91					0	0	0.000978	0	0
TRBV27	28560	broad.mit.edu	37	7	142423485	142423485	+	RNA	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:142423485C>T	ENST00000506718.1	+	0	493				TRBV27_ENST00000390399.3_RNA																							AGAATATGAACCATGAGTATA	0.473000													6	62					0	0	0.001168	0	0
COL21A1	81578	broad.mit.edu	37	6	55925556	55925556	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:55925556C>T	ENST00000244728.5	-	27	2787	c.2390G>A	c.(2389-2391)tGc>tAc	p.C797Y	COL21A1_ENST00000370819.1_Missense_Mutation_p.C794Y|COL21A1_ENST00000370808.2_Missense_Mutation_p.C197Y|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.C797Y	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	797					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACATCTGTGCAAACTTGTCG	0.299000													7	66					0	0	0.004482	0	0
ABCC11	85320	broad.mit.edu	37	16	48226462	48226462	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:48226462G>A	ENST00000394747.1	-	19	3024	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.S892F|ABCC11_ENST00000356608.2_Missense_Mutation_p.S892F|ABCC11_ENST00000353782.5_Missense_Mutation_p.S892F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	892	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CAGGGCCGTGGATGCCTTCCT	0.562000													10	79					0	0	0.000978	0	0
ZNF827	152485	broad.mit.edu	37	4	146807157	146807157	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:146807157C>T	ENST00000508784.1	-	4	1647	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	ZNF827_ENST00000379448.4_Missense_Mutation_p.V474I|ZNF827_ENST00000513320.1_Missense_Mutation_p.V124I			Q17R98	ZN827_HUMAN	zinc finger protein 827	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GATCCCTTGACATCTGGGTCT	0.567000													9	65					0	0	0.004482	0	0
BTG2	7832	broad.mit.edu	37	1	203276431	203276431	+	Silent	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:203276431G>A	ENST00000290551.4	+	2	413	c.342G>A	c.(340-342)ggG>ggA	p.G114G		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	114					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			ACCGCATTGGGGAGGACGGCT	0.667000													15	81					0	0	0.004007	0	0
DBNL	28988	broad.mit.edu	37	7	44089842	44089842	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:44089842A>C	ENST00000494774.1	+	2	123	c.102A>C	c.(100-102)gaA>gaC	p.E34D	DBNL_ENST00000452943.1_Missense_Mutation_p.E34D|DBNL_ENST00000490734.2_Missense_Mutation_p.K2T|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000468694.1_Missense_Mutation_p.E34D|DBNL_ENST00000456905.1_Missense_Mutation_p.E34D|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000448521.1_Missense_Mutation_p.E34D	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	34	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TTACCTATGAAGGCAACAGCA	0.542000													3	121					0	0	0.004672	0	0
ENTPD6	955	broad.mit.edu	37	20	25188018	25188018	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:25188018A>C	ENST00000360031.2	+	3	540	c.358A>C	c.(358-360)Acc>Ccc	p.T120P	ENTPD6_ENST00000354989.5_Missense_Mutation_p.T104P|ENTPD6_ENST00000376652.4_Missense_Mutation_p.T121P|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T121P	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	121						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	p.T121P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTTCCAGTTCACCCGGCCCCC	0.642000													9	49					0	0	0.007291	0	0
TRIM15	89870	broad.mit.edu	37	6	30140093	30140093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:30140093G>A	ENST00000376694.4	+	7	1834	c.1365G>A	c.(1363-1365)tgG>tgA	p.W455*	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	455	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TTGCCGTCTGGAAAAAAGGTT	0.637000													10	54					0	0	0.008291	0	0
HNRNPL	3191	broad.mit.edu	37	19	39336375	39336375	+	Splice_Site	SNP	C	C	A			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:39336375C>A	ENST00000221419.5	-	4	991	c.624_splice	c.e4-1	p.D209_splice	HNRNPL_ENST00000600873.1_Splice_Site_p.D76_splice	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	209	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TAAAGAACATCCTGCAAAAGC	0.478000													5	59					0.000602214	0.000702029	0.000602	1	0
ANKMY2	57037	broad.mit.edu	37	7	16640498	16640498	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:16640498T>C	ENST00000306999.2	-	10	1457	c.1214A>G	c.(1213-1215)aAg>aGg	p.K405R		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	405						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ATTGGAATCCTTTTGAGAGAT	0.428000													15	52					0	0	0.004007	0	0
ASB8	140461	broad.mit.edu	37	12	48543152	48543152	+	Silent	SNP	T	T	C			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:48543152T>C	ENST00000317697.3	-	4	1033	c.864A>G	c.(862-864)gaA>gaG	p.E288E	ASB8_ENST00000536549.1_Silent_p.E288E	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	288	SOCS box.				intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TCTCCGGCTATTCTAAAAGTA	0.517000													6	50					0	0	0.001168	0	0
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttg>t	p.LL23del	CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	23					innate immune response	endoplasmic reticulum		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695													6	6	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6754077	6754078	+	RNA	INS	-	-	G			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:6754077_6754078insG	ENST00000486256.1	+	0	346					NR_002217.1																						GTTCCGCCCCAGGAGGTTGGAA	0.495													5	4	---	---	---	---					
TAF10	6881	broad.mit.edu	37	11	6632171	6632173	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:6632171_6632173delCTT	ENST00000299424.4	-	5	1114_1116	c.637_639delAAG	c.(637-639)del	p.K213del		NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	213					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTAGTGCGGCTTCTTCACATTG	0.512													17	126	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279655	20279655	+	RNA	DEL	T	T	-			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:20279655delT	ENST00000578315.1	-	0	51																											tctgtctctcttttttttttt	0.383													3	5	---	---	---	---