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
IFNGR2	3460	broad.mit.edu	37	21	34805103	34805103	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr21:34805103C>A	ENST00000290219.6	+	6	1452	c.804C>A	c.(802-804)ttC>ttA	p.F268L	IFNGR2_ENST00000405436.1_Missense_Mutation_p.F189L|IFNGR2_ENST00000381995.1_Missense_Mutation_p.F287L	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	268					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	p.F268L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CCTGTTTCTTCCTGGTCCTGA	0.468000													45	85					1.62957e-23	1.86031e-23	0.104719	1	0
ANKRD49	54851	broad.mit.edu	37	11	94231644	94231644	+	Silent	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:94231644T>C	ENST00000544612.1	+	3	1163	c.666T>C	c.(664-666)taT>taC	p.Y222Y	ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Silent_p.Y222Y|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	222					positive regulation of transcription, DNA-dependent			p.Y222Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGTATCTATCACTACCTCT	0.398000													41	64					0	0	0.042209	0	0
HSP90B1	7184	broad.mit.edu	37	12	104326676	104326676	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:104326676G>A	ENST00000299767.5	+	4	549	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	123					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	p.E123K(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ACTGACTGATGAAAATGCTCT	0.343000													87	110					0	0	0.048971	0	0
SCN9A	6335	broad.mit.edu	37	2	167162315	167162315	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:167162315C>T	ENST00000375387.4	-	5	926	c.586G>A	c.(586-588)Gtc>Atc	p.V196I	SCN9A_ENST00000409435.1_Missense_Mutation_p.V195I|SCN9A_ENST00000409672.1_Missense_Mutation_p.V195I|SCN9A_ENST00000303354.6_Missense_Mutation_p.V196I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V195I(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAAACAATGACGACAAAATCC	0.398000													27	69					0	0	0.030593	0	0
CUL9	23113	broad.mit.edu	37	6	43156294	43156294	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:43156294G>A	ENST00000252050.4	+	8	2105	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	CUL9_ENST00000354495.3_Missense_Mutation_p.R564H|CUL9_ENST00000372647.2_Missense_Mutation_p.R674H	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	674					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.R674H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCGGTCCTCGCAGCTCCCTG	0.542000													53	43					0	0	0.048971	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185658	92185658	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:92185658G>A	ENST00000212355.4	-	9	1670	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L	TGFBR3_ENST00000525962.1_Missense_Mutation_p.P402L|TGFBR3_ENST00000370399.2_Missense_Mutation_p.P401L	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	402					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.P402L(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GAAAGGAAACGGAAGGCCTCC	0.572000													67	56					0	0	0.048971	0	0
SETX	23064	broad.mit.edu	37	9	135205856	135205856	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr9:135205856C>A	ENST00000372169.2	-	10	1311	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y	SETX_ENST00000393220.1_Missense_Mutation_p.D377Y|SETX_ENST00000224140.5_Missense_Mutation_p.D377Y			Q7Z333	SETX_HUMAN	senataxin	377					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.D377Y(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGACAATAATCTGGGCAAATG	0.388000													29	14					1.68575e-08	1.82741e-08	0.034045	1	0
HECW1	23072	broad.mit.edu	37	7	43484652	43484652	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:43484652G>A	ENST00000395891.2	+	11	2486	c.1881G>A	c.(1879-1881)acG>acA	p.T627T	HECW1_ENST00000453890.1_Silent_p.T627T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.T627T(1)|p.T606T(1)		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						CTCCAGGCACGGCGCACCCTG	0.706000													11	20					0	0	0.069234	0	0
KLK5	25818	broad.mit.edu	37	19	51453127	51453127	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:51453127C>T	ENST00000336334.3	-	3	671	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	KLK5_ENST00000391809.2_Missense_Mutation_p.A107T|KLK5_ENST00000593428.1_Missense_Mutation_p.A107T	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	107	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.A107T(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CTGCAGTGGGCGGCCGTGAGC	0.657000													40	11					0	0	0.039052	0	0
FOXK1	221937	broad.mit.edu	37	7	4794201	4794201	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:4794201C>T	ENST00000328914.4	+	3	858	c.858C>T	c.(856-858)gcC>gcT	p.A286A	FOXK1_ENST00000446823.1_Silent_p.A123A	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	286					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.A286A(1)|p.A264A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGCAAAGGCCGCGTCGGAGC	0.657000													11	59					0	0	0.080935	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971689	79971689	+	Silent	SNP	A	A	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:79971689A>T	ENST00000466387.1	+	7	1003	c.279A>T	c.(277-279)gtA>gtT	p.V93V	CTNNA2_ENST00000496558.1_Silent_p.V93V|CTNNA2_ENST00000540488.1_Silent_p.V93V|CTNNA2_ENST00000402739.4_Silent_p.V93V|CTNNA2_ENST00000541047.1_Silent_p.V93V|CTNNA2_ENST00000361291.4_Silent_p.V127V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	93					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.V93V(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGCTGCTGTAGAGGATGTGC	0.428000													22	16					0	0	0.062417	0	0
KIF13A	63971	broad.mit.edu	37	6	17777555	17777555	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:17777555T>C	ENST00000378814.5	-	33	4083	c.4084A>G	c.(4084-4086)Aaa>Gaa	p.K1362E	KIF13A_ENST00000378816.5_Missense_Mutation_p.K1375E|KIF13A_ENST00000259711.6_Missense_Mutation_p.K1375E|KIF13A_ENST00000378843.2_Missense_Mutation_p.K1362E|KIF13A_ENST00000378826.2_Missense_Mutation_p.K1375E	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1375					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	p.K1375E(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGCCGGGCTTTGGTGGAAAGT	0.448000													10	33					0	0	0.080935	0	0
KIF13B	23303	broad.mit.edu	37	8	28998127	28998127	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:28998127C>A	ENST00000524189.1	-	20	2380	c.2342G>T	c.(2341-2343)cGa>cTa	p.R781L	CTD-2647L4.1_ENST00000517632.1_RNA|CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	781					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	p.R781L(2)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GAAGTATGATCGTATTACCTG	0.378000													9	35					0.00829132	0.00869577	0.069234	1	0
KCNB2	9312	broad.mit.edu	37	8	73480335	73480335	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:73480335A>G	ENST00000523207.1	+	2	954	c.366A>G	c.(364-366)gaA>gaG	p.E122E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	122					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E122E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTGGCCAAGAACTTGATTACT	0.448000													37	120					0	0	0.074837	0	0
MYT1L	23040	broad.mit.edu	37	2	1983502	1983502	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:1983502C>T	ENST00000399161.2	-	6	795	c.48G>A	c.(46-48)ggG>ggA	p.G16G	MYT1L_ENST00000428368.2_Silent_p.G16G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	16					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G16G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TACCTCGAACCCCTTTGGACC	0.597000													9	65					0	0	0.058154	0	0
KIF21B	23046	broad.mit.edu	37	1	200968596	200968596	+	Splice_Site	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:200968596T>C	ENST00000332129.2	-	13	2084		c.e13-2		KIF21B_ENST00000422435.2_Splice_Site|KIF21B_ENST00000461742.2_Splice_Site|KIF21B_ENST00000360529.5_Splice_Site	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.?(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCCTCCTCCTGGGCACCAGG	0.632000													95	35					0	0	0.048971	0	0
EIF4A2	1974	broad.mit.edu	37	3	186501413	186501413	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:186501413C>T	ENST00000323963.5	+	1	78	c.14C>T	c.(13-15)tCc>tTc	p.S5F	RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.S5F|EIF4A2_ENST00000356531.5_5'UTR			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	5					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.S5F(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TCTGGTGGCTCCGCGGATTAT	0.562000			T	BCL6	NHL								81	184					0	0	0.048971	0	0
DNM3	26052	broad.mit.edu	37	1	172017754	172017754	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:172017754C>T	ENST00000358155.4	+	10	1375	c.1199C>T	c.(1198-1200)aCa>aTa	p.T400I	DNM3_ENST00000367733.2_Missense_Mutation_p.T400I|DNM3_ENST00000367731.1_Missense_Mutation_p.T400I|DNM3_ENST00000355305.5_Missense_Mutation_p.T400I|DNM3_ENST00000520906.1_Missense_Mutation_p.T400I	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	400					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	p.T400I(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACCTTCAGGACAGGGTTGTTT	0.333000													5	25					0	0	0.014758	0	0
SNW1	22938	broad.mit.edu	37	14	78184464	78184464	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr14:78184464G>A	ENST00000555761.1	-	13	1686	c.1658C>T	c.(1657-1659)aCg>aTg	p.T553M	SNW1_ENST00000554775.1_Silent_p.H364H|SNW1_ENST00000261531.7_Silent_p.H526H|SLIRP_ENST00000557623.1_Intron|SLIRP_ENST00000557431.1_Intron			Q13573	SNW1_HUMAN	SNW domain containing 1	0					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	p.H526H(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTTCATGCTCGTGTTCCTTGG	0.468000													100	182					0	0	0.048971	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4499523	4499523	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:4499523G>A	ENST00000301284.4	+	14	1675	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	HDGFRP2_ENST00000586684.1_Silent_p.E537E	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		537					transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.E537E(1)									ACGTAATGGAGAAGGCAGCAG	0.592000													9	47					0	0	0.047766	0	0
MUC4	4585	broad.mit.edu	37	3	195511815	195511815	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:195511815G>A	ENST00000463781.3	-	2	7095	c.6636C>T	c.(6634-6636)acC>acT	p.T2212T	MUC4_ENST00000475231.1_Silent_p.T2212T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1001					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T2212T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGGGCTGGTGACAGGAA	0.602000													3	5					0	0	0.004672	0	0
GLIS1	148979	broad.mit.edu	37	1	53986418	53986418	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:53986418C>T	ENST00000312233.2	-	6	1656	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	364					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.E364K(2)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						ACGTCGGCCTCGGTGTCAGGG	0.662000													13	21					0	0	0.105934	0	0
ZNF567	163081	broad.mit.edu	37	19	37210842	37210842	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:37210842G>T	ENST00000585696.1	+	3	2353	c.1123G>T	c.(1123-1125)Gca>Tca	p.A375S	ZNF567_ENST00000360729.4_Missense_Mutation_p.A375S|ZNF567_ENST00000392163.2_Missense_Mutation_p.A375S|ZNF567_ENST00000588311.1_Missense_Mutation_p.A375S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.A406S			Q8N184	ZN567_HUMAN	zinc finger protein 567	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A375S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACCAGAAGGCAAATCTTAC	0.433000													17	56					2.48551e-13	2.74043e-13	0.033300	1	0
CCDC57	284001	broad.mit.edu	37	17	80059594	80059594	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:80059594C>G	ENST00000389641.4	-	18	2751	c.2715G>C	c.(2713-2715)agG>agC	p.R905S	CCDC57_ENST00000392347.1_Missense_Mutation_p.R905S			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	905								p.R905S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCTTGGGGGGCCTCTGGCAGC	0.612000													210	45					0	0	0.048971	0	0
TRMT10A	93587	broad.mit.edu	37	4	100479211	100479211	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:100479211A>G	ENST00000273962.3	-	3	655	c.343T>C	c.(343-345)Tta>Cta	p.L115L	TRMT10A_ENST00000394877.3_Silent_p.L115L|TRMT10A_ENST00000394876.2_Silent_p.L115L	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)									p.L115L(1)									GATACCTTTAATACCATCAAG	0.328000													10	18					0	0	0.105934	0	0
AK9	221264	broad.mit.edu	37	6	109980580	109980580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:109980580G>A	ENST00000424296.2	-	7	557	c.481C>T	c.(481-483)Caa>Taa	p.Q161*	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Nonsense_Mutation_p.Q161*|AK9_ENST00000285397.5_Nonsense_Mutation_p.Q161*	NM_001145128.2	NP_001138600.2			adenylate kinase 9									p.Q161*(2)									TGCTGTCTTTGCCCAGAAATT	0.353000													35	39					0	0	0.086207	0	0
PRR22	163154	broad.mit.edu	37	19	5783026	5783026	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:5783026G>A	ENST00000419421.2	-	3	1336	c.1232C>T	c.(1231-1233)cCg>cTg	p.P411L		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	409								p.P409L(1)|p.P411L(1)		endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCTGGGCCCCGGGGGAGTGGC	0.667000													6	11					0	0	0.047766	0	0
ATXN7	6314	broad.mit.edu	37	3	63985136	63985136	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:63985136G>A	ENST00000295900.6	+	13	3222	c.2672G>A	c.(2671-2673)cGt>cAt	p.R891H	ATXN7_ENST00000538065.1_Silent_p.T913T|ATXN7_ENST00000398590.3_Silent_p.T913T|ATXN7_ENST00000484332.1_Missense_Mutation_p.R746H|ATXN7_ENST00000487717.1_Missense_Mutation_p.R891H	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	891				PKARP -> VGNGL (in Ref. 2; AAC39765/ AAC19163).	cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.R891H(1)|p.T913T(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCAAAGGCACGTCCCTGACAG	0.448000													16	26					0	0	0.033300	0	0
UGT8	7368	broad.mit.edu	37	4	115597250	115597250	+	Missense_Mutation	SNP	G	G	T	rs77695673		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:115597250G>T	ENST00000310836.6	+	6	1954	c.1432G>T	c.(1432-1434)Gcc>Tcc	p.A478S	UGT8_ENST00000394511.3_Missense_Mutation_p.A478S	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	478					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	p.A478S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ACTGGATATTGCCTTTGTGCT	0.373000													50	83					7.34454e-26	8.45934e-26	0.048971	1	0
DNAH7	56171	broad.mit.edu	37	2	196865506	196865506	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:196865506G>A	ENST00000312428.6	-	12	1375	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	DNAH7_ENST00000410072.1_Silent_p.I425I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	425	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I425I(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATTTAGAAAGATATCTATAT	0.343000													158	150					0	0	0.048971	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776411	77776411	+	Silent	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:77776411T>C	ENST00000521891.2	+	11	10909	c.10461T>C	c.(10459-10461)gtT>gtC	p.V3487V	ZFHX4_ENST00000050961.6_Silent_p.V3438V|ZFHX4_ENST00000518282.1_Silent_p.V3461V|ZFHX4_ENST00000455469.2_Silent_p.V3442V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3438	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V3471V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGAGCATGTTAGATTATTAC	0.433000										HNSCC(33;0.089)			6	24					0	0	0.021553	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													6	41					0	0	0.038147	0	0
C22orf24	25775	broad.mit.edu	37	22	32334024	32334024	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr22:32334024A>G	ENST00000248984.3	-	2	195	c.29T>C	c.(28-30)cTg>cCg	p.L10P	C22orf24_ENST00000486651.1_5'UTR|C22orf24_ENST00000543051.1_Missense_Mutation_p.L77P	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	10						integral to membrane		p.L10P(2)		central_nervous_system(1)|urinary_tract(1)	2						CTTTTGATGCAGCCCTGTTGT	0.453000													124	348					0	0	0.048971	0	0
COL22A1	169044	broad.mit.edu	37	8	139734291	139734291	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:139734291C>T	ENST00000303045.6	-	26	2735	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P	COL22A1_ENST00000435777.1_Silent_p.P763P|COL22A1_ENST00000341807.4_Intron	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	763	Collagen-like 5.|Gly-rich.|Pro-rich.			GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075).	cell adhesion	collagen|cytoplasm	structural molecule activity	p.P763P(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGTTCCTGGCGGACCTGGTG	0.478000										HNSCC(7;0.00092)			7	17					0	0	0.038147	0	0
RIMS3	9783	broad.mit.edu	37	1	41101622	41101622	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:41101622C>T	ENST00000372684.3	-	4	794	c.325G>A	c.(325-327)Gat>Aat	p.D109N	RIMS3_ENST00000372683.1_Missense_Mutation_p.D109N	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	109					neurotransmitter transport	cell junction|synapse		p.D109N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GTGCTCCCATCGGTGGACTCC	0.682000													81	44					0	0	0.048971	0	0
TECTA	7007	broad.mit.edu	37	11	121039497	121039497	+	Silent	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:121039497G>C	ENST00000392793.1	+	20	6133	c.5862G>C	c.(5860-5862)acG>acC	p.T1954T	TECTA_ENST00000264037.2_Silent_p.T1954T			O75443	TECTA_HUMAN	tectorin alpha	1954	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.T1954T(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGTGTTGACGACTCGAGATG	0.483000													25	63					0	0	0.083992	0	0
CD200	4345	broad.mit.edu	37	3	112054803	112054803	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:112054803C>A	ENST00000473539.1	+	2	83	c.26C>A	c.(25-27)aCa>aAa	p.T9K	CD200_ENST00000383681.3_Intron|CD200_ENST00000315711.8_Intron|CD200_ENST00000607516.1_3'UTR	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response	integral to plasma membrane		p.T9K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CTGACCAGGACAATTGGGGGC	0.458000													27	116					8.58068e-18	9.62529e-18	0.034045	1	0
ACHE	43	broad.mit.edu	37	7	100491616	100491616	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:100491616G>A	ENST00000302913.4	-	2	376	c.238C>T	c.(238-240)Cca>Tca	p.P80S	ACHE_ENST00000419336.2_Missense_Mutation_p.P80S|ACHE_ENST00000241069.5_Missense_Mutation_p.P80S|ACHE_ENST00000428317.1_Missense_Mutation_p.P80S|ACHE_ENST00000411582.1_Missense_Mutation_p.P80S|ACHE_ENST00000412389.1_Missense_Mutation_p.P80S	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	80					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	p.P80S(2)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGCTCCGGTGGCAGAAAGCGA	0.627000													28	146					0	0	0.108266	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111614171	111614171	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:111614171C>T	ENST00000527614.1	-	12	1548	c.1483G>A	c.(1483-1485)Gtt>Att	p.V495I	PPP2R1B_ENST00000426998.2_Missense_Mutation_p.V431I|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.V334I|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.V495I|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.V368I|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.V450I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	495							protein binding	p.V495I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ACTTTGGGAACAATAGTATTT	0.383000													13	168					0	0	0.020292	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36357191	36357191	+	Silent	SNP	A	A	G	rs146502556	by1000genomes	TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:36357191A>G	ENST00000312412.4	-	9	1061	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L	TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Silent_p.L199L																kidney(1)|lung(3)	4						ATTGATGGGCAAGTTCATGTC	0.348000													3	51					0	0	0.009096	0	0
HRH1	3269	broad.mit.edu	37	3	11301151	11301151	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:11301151G>A	ENST00000397056.1	+	3	619	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	HRH1_ENST00000431010.2_Missense_Mutation_p.R143Q|HRH1_ENST00000438284.2_Missense_Mutation_p.R143Q	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	143					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	p.R143Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACCAAGACCCGAGCCTCGGCC	0.552000													51	187					0	0	0.048971	0	0
POU5F1B	5462	broad.mit.edu	37	8	128429170	128429170	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:128429170C>T	ENST00000465342.2	+	2	2216	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.G353G			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	353						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G353G(2)		lung(1)|prostate(1)|urinary_tract(1)	3						TCACTCTGGGCTCTCCCATGC	0.577000													12	14					0	0	0.105934	0	0
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:7577568C>A	ENST00000420246.2	-	7	845	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572000		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)			60	8					1.77791e-30	2.06622e-30	0.048971	1	0
TAB2	23118	broad.mit.edu	37	6	149700178	149700178	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:149700178C>T	ENST00000367456.1	+	4	1704	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	TAB2_ENST00000538427.1_Missense_Mutation_p.T376M|TAB2_ENST00000536230.1_Missense_Mutation_p.T344M|TAB2_ENST00000286332.5_Missense_Mutation_p.T376M|TAB2_ENST00000392282.1_Missense_Mutation_p.T376M			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	376					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	p.T376M(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCCCCAAATACGGATGAGCTG	0.493000													26	60					0	0	0.083992	0	0
RCBTB1	55213	broad.mit.edu	37	13	50129739	50129739	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr13:50129739C>T	ENST00000378302.2	-	6	775	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	RCBTB1_ENST00000546015.1_Missense_Mutation_p.R172Q|RCBTB1_ENST00000258646.3_Missense_Mutation_p.R172Q	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	172					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R172Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TGTAACTTTTCGAGGAGTTGG	0.443000													16	35					0	0	0.028581	0	0
PYGM	5837	broad.mit.edu	37	11	64525784	64525784	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:64525784G>A	ENST00000164139.3	-	4	860	c.462C>T	c.(460-462)gcC>gcT	p.A154A	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	154					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.A154A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCCATAGGCGGCCAGGCCCA	0.602000													122	42					0	0	0.048971	0	0
SULT2B1	6820	broad.mit.edu	37	19	49055556	49055556	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:49055556A>T	ENST00000201586.2	+	1	225	c.47A>T	c.(46-48)tAt>tTt	p.Y16F		NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	16					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	p.Y16F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TGGGACACCTATGAAGATGAC	0.672000													18	34					0	0	0.055883	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44216418	44216418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:44216418C>T	ENST00000371554.1	+	2	266	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.Q18*|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.Q18*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	18					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.Q18*(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTTTGCCTTTCAGGCAGAAAT	0.423000													91	209					0	0	0.048971	0	0
C3orf30	152405	broad.mit.edu	37	3	118865565	118865565	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:118865565C>G	ENST00000295622.1	+	1	569	c.529C>G	c.(529-531)Cag>Gag	p.Q177E		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	177								p.Q177E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGGTTCCAGACAGACCGACCA	0.527000													38	79					0	0	0.048971	0	0
RRP7BP	91695	broad.mit.edu	37	22	42972584	42972584	+	RNA	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr22:42972584G>A	ENST00000357802.2	-	0	521																											CCTCAGGGTCGGGCACAGAGT	0.642000													5	14					0	0	0.058154	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6981182	6981182	+	RNA	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:6981182C>A	ENST00000600751.1	-	0	497					NR_024075.1													p.R150S(1)									GTTGAGTAGCCCTTCTTGCAA	0.378000													4	25					0.00909568	0.00946244	0.009096	1	0
FBXO24	26261	broad.mit.edu	37	7	100187841	100187841	+	Silent	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:100187841C>G	ENST00000241071.6	+	3	505	c.183C>G	c.(181-183)gcC>gcG	p.A61A	FBXO24_ENST00000468962.1_Silent_p.A49A|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Silent_p.A99A|FBXO24_ENST00000360609.2_Silent_p.A61A|FBXO24_ENST00000465843.1_Silent_p.A61A	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	61	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity	p.A61A(1)|p.A99A(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCTTGTTGCCCTCGGCCAGA	0.607000													64	31					0	0	0.048971	0	0
DNAH11	8701	broad.mit.edu	37	7	21826264	21826264	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:21826264C>G	ENST00000328843.6	+	60	9672	c.9641C>G	c.(9640-9642)gCc>gGc	p.A3214G	DNAH11_ENST00000409508.3_Missense_Mutation_p.A3207G			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3214	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A3214G(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGCTGAAAGCCTTTCCCAAC	0.512000									Kartagener syndrome				9	96					0	0	0.058154	0	0
SRD5A1	6715	broad.mit.edu	37	5	6633926	6633926	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:6633926C>T	ENST00000537411.1	+	1	387	c.263C>T	c.(262-264)tCc>tTc	p.S88F	SRD5A1_ENST00000538824.1_Missense_Mutation_p.S88F|SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000274192.5_Silent_p.L79L			P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	0					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	p.L79L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CCCCGCGTCTCCGCAGCGCGC	0.736000													16	157					0	0	0.038395	0	0
PRDM2	7799	broad.mit.edu	37	1	14107286	14107286	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:14107286C>A	ENST00000235372.7	+	8	3852	c.2996C>A	c.(2995-2997)tCt>tAt	p.S999Y	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S999Y|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S798Y|PRDM2_ENST00000413440.1_Missense_Mutation_p.S798Y	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	999	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S999Y(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCAGCCCCCTCTTCCAGTGCA	0.607000													94	67					5.34484e-38	6.26804e-38	0.048971	1	0
RGS12	6002	broad.mit.edu	37	4	3425321	3425321	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:3425321G>A	ENST00000336727.3	+	13	4091	c.3187G>A	c.(3187-3189)Gtg>Atg	p.V1063M	RGS12_ENST00000538395.1_Missense_Mutation_p.V405M|RGS12_ENST00000344733.5_Missense_Mutation_p.V1063M|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Missense_Mutation_p.V461M|RGS12_ENST00000382788.3_Missense_Mutation_p.V1063M|RGS12_ENST00000338806.4_Missense_Mutation_p.V415M	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1063	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.V1063M(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGCGGCCCGTGGTGGCCAG	0.632000													35	93					0	0	0.069456	0	0
TP53I13	90313	broad.mit.edu	37	17	27899299	27899299	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:27899299C>G	ENST00000301057.7	+	6	768	c.653C>G	c.(652-654)tCa>tGa	p.S218*	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	218						cytoplasm|integral to membrane|plasma membrane		p.S218*(1)		NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CCCACTCGCTCAGCCCTGAGG	0.637000													55	13					0	0	0.048971	0	0
ACBD3	64746	broad.mit.edu	37	1	226340229	226340229	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:226340229C>T	ENST00000366812.5	-	7	1236	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	394	GOLD.			KEKIQQDADSVITV -> QREDSAGCRFRDYS (in Ref. 2).	steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	p.V394V(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CCACTGTAATCACGGAATCTG	0.453000													141	249					0	0	0.048971	0	0
TNR	7143	broad.mit.edu	37	1	175355398	175355398	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:175355398G>A	ENST00000367674.2	-	8	2255	c.1547C>T	c.(1546-1548)tCg>tTg	p.S516L	TNR_ENST00000263525.2_Missense_Mutation_p.S516L			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S516L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACAGTGTCCGAGACATCGCG	0.512000													12	57					0	0	0.020292	0	0
FLNA	2316	broad.mit.edu	37	X	153592464	153592464	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chrX:153592464C>T	ENST00000422373.1	-	15	2454	c.2206G>A	c.(2206-2208)Gtg>Atg	p.V736M	FLNA_ENST00000369850.3_Missense_Mutation_p.V736M|FLNA_ENST00000360319.4_Missense_Mutation_p.V736M|FLNA_ENST00000344736.4_Missense_Mutation_p.V736M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	736					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.V736M(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTGGGCACGTAGGAGCAG	0.612000													73	18					0	0	0.048971	0	0
USF2	7392	broad.mit.edu	37	19	35770065	35770065	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:35770065G>A	ENST00000594064.1	+	9	1033	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	USF2_ENST00000379134.3_Intron|USF2_ENST00000222305.3_Intron|USF2_ENST00000595068.1_Intron|USF2_ENST00000343550.5_Intron|USF2_ENST00000600341.1_Intron			Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	57					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGTCGTGTCCGCCAGATCGAG	0.687000													7	20					0	0	0.038147	0	0
IKZF2	22807	broad.mit.edu	37	2	213872344	213872344	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:213872344C>A	ENST00000457361.1	-	8	1489	c.1321G>T	c.(1321-1323)Gtc>Ttc	p.V441F	IKZF2_ENST00000434687.1_Missense_Mutation_p.V441F|IKZF2_ENST00000342002.2_Missense_Mutation_p.V447F|IKZF2_ENST00000374319.4_Missense_Mutation_p.V415F|IKZF2_ENST00000374327.4_Missense_Mutation_p.V296F|IKZF2_ENST00000421754.2_Missense_Mutation_p.V367F|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Missense_Mutation_p.V369F	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V441F(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAAGCTTTGACATCCTCCTTC	0.483000													9	63					1.12685e-05	1.21136e-05	0.047766	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68964665	68964665	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:68964665A>G	ENST00000356291.2	-	2	162	c.103T>C	c.(103-105)Tta>Cta	p.L35L		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	35					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.L35L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACAATTGCTAATGTGAAAAGA	0.388000													3	14					0	0	0.004672	0	0
SWSAP1	126074	broad.mit.edu	37	19	11486191	11486191	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:11486191G>A	ENST00000312423.2	+	2	248	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	63								p.K63K(1)									CCTTCTAGAAGATCCGCTTCC	0.582000													99	308					0	0	0.048971	0	0
MYO1C	4641	broad.mit.edu	37	17	1375225	1375225	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:1375225C>T	ENST00000359786.5	-	19	2321	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H	MYO1C_ENST00000545534.2_Missense_Mutation_p.R642H|MYO1C_ENST00000361007.2_Missense_Mutation_p.R631H|MYO1C_ENST00000438665.2_Missense_Mutation_p.R647H|MYO1C_ENST00000575158.1_Missense_Mutation_p.R631H	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	666	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.R631H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTCGTATTTGCGGCGATAGGC	0.637000													6	221					0	0	0.029380	0	0
ADGRG6	57211	broad.mit.edu	37	6	142691909	142691909	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:142691909G>C	ENST00000230173.6	+	4	1524	c.1048G>C	c.(1048-1050)Gct>Cct	p.A350P	GPR126_ENST00000367608.2_Missense_Mutation_p.A350P|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.A350P|GPR126_ENST00000367609.3_Missense_Mutation_p.A350P	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	350	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A349P(1)|p.A350P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGCTCTGAAAGCTGAAAGCAA	0.363000													3	48					0	0	0.009096	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498739	73498739	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:73498739G>A	ENST00000321617.3	-	18	3002	c.2416C>T	c.(2416-2418)Ccc>Tcc	p.P806S	CASKIN2_ENST00000433559.2_Missense_Mutation_p.P724S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	806	Pro-rich.					cytoplasm		p.P806S(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTCTGTGGGGCCAGGGCGG	0.701000													4	44					0	0	0.009096	0	0
UBR4	23352	broad.mit.edu	37	1	19475090	19475090	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:19475090T>A	ENST00000375267.2	-	50	7464	c.7461A>T	c.(7459-7461)gaA>gaT	p.E2487D	UBR4_ENST00000375217.2_Missense_Mutation_p.E2487D|UBR4_ENST00000375226.2_Missense_Mutation_p.E2498D|UBR4_ENST00000375254.3_Missense_Mutation_p.E2487D			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2487					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.E2487D(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAAAGCAGCTTTCCAGGGCTT	0.512000													134	119					0	0	0.048971	0	0
ME1	4199	broad.mit.edu	37	6	83963391	83963391	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:83963391G>T	ENST00000369705.3	-	7	887	c.771C>A	c.(769-771)aaC>aaA	p.N257K	ME1_ENST00000541327.1_Missense_Mutation_p.N91K|ME1_ENST00000543031.1_Missense_Mutation_p.N182K	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	257					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	p.N257K(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCGATACTTGTTCAGGAGAC	0.328000													21	89					2.00529e-23	2.26915e-23	0.083992	1	0
KRT74	121391	broad.mit.edu	37	12	52962081	52962081	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:52962081G>A	ENST00000549343.1	-	8	1307	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	KRT74_ENST00000305620.2_Silent_p.G409G			Q7RTS7	K2C74_HUMAN	keratin 74	409	Coil 2.|Rod.					keratin filament	structural molecule activity	p.G409G(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGTGCAGGGCGCCCTCCAGCT	0.652000													35	113					0	0	0.104719	0	0
DDHD2	23259	broad.mit.edu	37	8	38095117	38095117	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:38095117G>A	ENST00000397166.2	+	4	998	c.473G>A	c.(472-474)aGa>aAa	p.R158K	DDHD2_ENST00000520272.2_Missense_Mutation_p.R158K	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	158					lipid catabolic process	centrosome	hydrolase activity|metal ion binding	p.R158K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TCTCCCAACAGAGAAATTATT	0.333000													16	57					0	0	0.038395	0	0
CSMD2	114784	broad.mit.edu	37	1	34076828	34076828	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:34076828G>C	ENST00000373381.4	-	41	6332	c.6156C>G	c.(6154-6156)aaC>aaG	p.N2052K	CSMD2_ENST00000373388.2_Missense_Mutation_p.N151K|CSMD2_ENST00000373377.1_Missense_Mutation_p.N151K|CSMD2_ENST00000373380.1_Missense_Mutation_p.N925K	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2012	CUB 12.					integral to membrane|plasma membrane	protein binding	p.N2012K(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGTGGAGAAGTTCAGGAACT	0.547000													15	30					0	0	0.028581	0	0
MARVELD2	153562	broad.mit.edu	37	5	68737477	68737477	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:68737477C>G	ENST00000325631.5	+	7	1747	c.1673C>G	c.(1672-1674)tCt>tGt	p.S558C	MARVELD2_ENST00000413223.2_Missense_Mutation_p.S442C	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	558					sensory perception of sound	integral to membrane|tight junction		p.S558C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CAAGGTTATTCTTAACGCTTA	0.308000													24	34					0	0	0.099896	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													9	7					0	0	0.069234	0	0
ZNF461	92283	broad.mit.edu	37	19	37147421	37147421	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:37147421A>G	ENST00000588268.1	-	4	388	c.161T>C	c.(160-162)gTa>gCa	p.V54A	ZNF461_ENST00000360357.4_Missense_Mutation_p.V54A	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V54A(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGAGGAGATTACGGCTGGCTT	0.433000													3	67					0	0	0.004672	0	0
SI	6476	broad.mit.edu	37	3	164786928	164786928	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:164786928G>C	ENST00000264382.3	-	4	373	c.311C>G	c.(310-312)cCt>cGt	p.P104R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	104	P-type 1.				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	p.P104R(1)		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)	GAAGCACCAAGGAATAAGAGA	0.343000										HNSCC(35;0.089)			34	71					0	0	0.050027	0	0
A2ML1	144568	broad.mit.edu	37	12	9006743	9006743	+	Silent	SNP	T	T	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:9006743T>A	ENST00000299698.7	+	21	2790	c.2610T>A	c.(2608-2610)atT>atA	p.I870I	A2ML1_ENST00000539547.1_Silent_p.I379I	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	714						extracellular space	endopeptidase inhibitor activity	p.I870I(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACTTTACTATTAGTACAAAGA	0.478000													13	39					0	0	0.093190	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679568	53679568	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr16:53679568C>T	ENST00000262135.4	-	17	2745	c.2652G>A	c.(2650-2652)ctG>ctA	p.L884L	RPGRIP1L_ENST00000563746.1_Silent_p.L884L|RPGRIP1L_ENST00000379925.3_Silent_p.L884L|RPGRIP1L_ENST00000564374.1_Silent_p.L884L	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	884					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.L884L(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CCAACGAAATCAGAGGCACAT	0.333000													34	70					0	0	0.050027	0	0
ZNF645	158506	broad.mit.edu	37	X	22291957	22291957	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chrX:22291957G>A	ENST00000323684.1	+	1	893	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	283	Pro-rich.					intracellular	zinc ion binding	p.A283A(3)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGCATTATGCGCCACCTCCAT	0.473000													69	20					0	0	0.048971	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951334	46951334	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr21:46951334G>A	ENST00000311124.4	-	3	1070	c.918C>T	c.(916-918)aaC>aaT	p.N306N	SLC19A1_ENST00000485649.2_Silent_p.N266N|SLC19A1_ENST00000380010.4_Silent_p.N306N|SLC19A1_ENST00000567670.1_Silent_p.N306N	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	306					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	p.N53N(1)|p.N306N(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CTGCCGCGCCGTTGTAGACCC	0.662000													34	103					0	0	0.074837	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932939	153932939	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:153932939G>A	ENST00000368623.3	-	3	1369	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	SLC39A1_ENST00000537590.1_Missense_Mutation_p.R102W|SLC39A1_ENST00000368621.1_Missense_Mutation_p.R204W|SLC39A1_ENST00000310483.6_Missense_Mutation_p.R204W|SLC39A1_ENST00000356205.4_Missense_Mutation_p.R204W			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	204						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	p.R204W(1)		kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		GCCCGAGCCCGGTCTCGCTGC	0.662000													41	35					0	0	0.098360	0	0
TST	7263	broad.mit.edu	37	22	37414345	37414345	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr22:37414345G>A	ENST00000403892.3	-	1	1163	c.429C>T	c.(427-429)tcC>tcT	p.S143S	TST_ENST00000249042.3_Silent_p.S143S	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	143	Rhodanese 1.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	p.S143S(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GTGAGGGCTCGGATGTCACCG	0.607000													25	71					0	0	0.076483	0	0
PHRF1	57661	broad.mit.edu	37	11	607297	607297	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:607297G>A	ENST00000264555.5	+	14	1969	c.1841G>A	c.(1840-1842)cGg>cAg	p.R614Q	PHRF1_ENST00000533464.1_Missense_Mutation_p.R610Q|PHRF1_ENST00000413872.2_Missense_Mutation_p.R612Q|PHRF1_ENST00000416188.2_Missense_Mutation_p.R613Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	614							RNA polymerase binding|zinc ion binding	p.R614Q(1)|p.R619Q(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTTCAGGCTCGGAACTTGTCA	0.667000													44	137					0	0	0.048971	0	0
SOGA1	140710	broad.mit.edu	37	20	35443917	35443917	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr20:35443917C>A	ENST00000237536.4	-	5	2269	c.1928G>T	c.(1927-1929)cGa>cTa	p.R643L	SOGA1_ENST00000456801.2_Missense_Mutation_p.R246L|SOGA1_ENST00000279034.6_Missense_Mutation_p.R405L|SOGA1_ENST00000357779.3_Missense_Mutation_p.R405L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	405								p.R643L(3)|p.R405L(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCTGCAGAGTCGGACCGCATG	0.677000													4	9					0.014758	0.0152302	0.014758	1	0
ORAI2	80228	broad.mit.edu	37	7	102087006	102087006	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:102087006G>A	ENST00000356387.2	+	4	507	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	ORAI2_ENST00000473939.1_Missense_Mutation_p.R91Q|ORAI2_ENST00000478730.2_Missense_Mutation_p.R91Q|ORAI2_ENST00000403646.3_Missense_Mutation_p.R91Q|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	91						integral to membrane	protein binding	p.R91Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CAGTACCCGCGGCCGCTGCTG	0.662000													17	72					0	0	0.069288	0	0
PPP6R1	22870	broad.mit.edu	37	19	55758320	55758320	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:55758320G>A	ENST00000412770.2	-	2	718	c.152C>T	c.(151-153)cCa>cTa	p.P51L	PPP6R1_ENST00000587283.1_Missense_Mutation_p.P51L	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	51	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	p.P51L(1)		breast(1)	1						CAGGTGGGGTGGCTGCAGCAG	0.657000													19	30					0	0	0.055883	0	0
BOP1	23246	broad.mit.edu	37	8	145512927	145512927	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:145512927G>C	ENST00000307404.5	-	2	187	c.158C>G	c.(157-159)tCc>tGc	p.S53C	BOP1_ENST00000529231.1_5'UTR	NM_015201.3	NP_056016.1	Q14137	BOP1_HUMAN	block of proliferation 1	53					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding	p.S53C(1)		lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			CTCGCTGTCGGAGACGCCAGA	0.622000													72	41					0	0	0.048971	0	0
ACBD3	64746	broad.mit.edu	37	1	226340215	226340215	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:226340215C>T	ENST00000366812.5	-	7	1250	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	399	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	p.R399Q(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CACTTCTCCTCGGCCCACTGT	0.463000													135	225					0	0	0.048971	0	0
ATP2A1	487	broad.mit.edu	37	16	28913653	28913653	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr16:28913653C>T	ENST00000395503.4	+	17	2654	c.2470C>T	c.(2470-2472)Ccc>Tcc	p.P824S	ATP2A1_ENST00000357084.3_Missense_Mutation_p.P824S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.P699S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	824					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.P824S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCCCCGGAGCCCCAAGGAGCC	0.647000													51	631					0	0	0.048971	0	0
ANO8	57719	broad.mit.edu	37	19	17440975	17440975	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:17440975G>T	ENST00000159087.4	-	10	1390	c.1232C>A	c.(1231-1233)gCc>gAc	p.A411D		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	411	Leu-rich.					chloride channel complex	chloride channel activity	p.A411D(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GTAGCCCTCGGCACTCACACT	0.627000													26	78					4.7796e-09	5.22516e-09	0.099896	1	0
SETBP1	26040	broad.mit.edu	37	18	42530725	42530725	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr18:42530725G>A	ENST00000282030.5	+	4	1716	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	474						nucleus	DNA binding	p.E474K(1)|p.E420K(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATAGAGAATGAGTCCCCCTC	0.483000									Schinzel-Giedion syndrome				66	27					0	0	0.048971	0	0
FLG	2312	broad.mit.edu	37	1	152279046	152279046	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:152279046G>T	ENST00000368799.1	-	3	8351	c.8316C>A	c.(8314-8316)gaC>gaA	p.D2772E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2772	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D2772E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCTGTCTTGTGCCT	0.597000									Ichthyosis				333	1082					5.87652e-79	6.95479e-79	0.048971	1	0
PDGFRB	5159	broad.mit.edu	37	5	149515232	149515232	+	Missense_Mutation	SNP	C	C	T	rs80162387	by1000genomes	TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:149515232C>T	ENST00000261799.4	-	3	719	c.250G>A	c.(250-252)Gtg>Atg	p.V84M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	84	Ig-like C2-type 1.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.V84M(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGTGAGCACGCTGGAGAAG	0.597000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								8	102					0	0	0.047766	0	0
PLCB3	5331	broad.mit.edu	37	11	64035013	64035013	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:64035013G>A	ENST00000540288.1	+	31	3793	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E	PLCB3_ENST00000279230.6_Silent_p.E1230E|PLCB3_ENST00000325234.5_Silent_p.E1163E	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1230					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E1230E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCCAGGAGGAGAACACGCAGC	0.652000													8	3					0	0	0.047766	0	0
RXRG	6258	broad.mit.edu	37	1	165370612	165370612	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:165370612C>T	ENST00000359842.5	-	10	1582	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	427	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R427H(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GCCAATGGAACGCAGAGCTGG	0.602000													23	94					0	0	0.030593	0	0
FRAS1	80144	broad.mit.edu	37	4	79429990	79429990	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:79429990C>T	ENST00000264895.6	+	63	10050	c.9610C>T	c.(9610-9612)Cct>Tct	p.P3204S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3199					cell communication	integral to membrane|plasma membrane	metal ion binding	p.P3204S(1)|p.P3205S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCCTGCGACCCTCATTTCCC	0.567000													11	15					0	0	0.069234	0	0
PRKCD	5580	broad.mit.edu	37	3	53213624	53213624	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:53213624G>A	ENST00000394729.2	+	3	475	c.147G>A	c.(145-147)ccG>ccA	p.P49P	PRKCD_ENST00000330452.3_Silent_p.P49P	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	49	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	p.P49P(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGAAGAAGCCGACCATGTATC	0.592000													20	43					0	0	0.055883	0	0
CDKL4	344387	broad.mit.edu	37	2	39417450	39417453	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:39417450_39417453delTGTT	ENST00000378803.1	-	5	644_647	c.645_648delAACA	c.(643-648)agaacafs	p.RT215fs	CDKL4_ENST00000395035.3_Frame_Shift_Del_p.RT215fs	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	215	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCATACCTAGTGTTCTGATTATCA	0.343													25	96	---	---	---	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													7	141	---	---	---	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													7	417	---	---	---	---					
TAF5	6877	broad.mit.edu	37	10	105133276	105133277	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr10:105133276_105133277insA	ENST00000369839.3	+	2	744_745	c.721_722insA	c.(721-723)tatfs	p.Y241fs	TAF5_ENST00000351396.4_Frame_Shift_Ins_p.Y241fs	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	241					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAACTTTTTTATCCTCTGTTT	0.371													105	165	---	---	---	---					
RPS3	6188	broad.mit.edu	37	11	75113378	75113379	+	Frame_Shift_Ins	INS	-	-	CCTTGCTT			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:75113378_75113379insCCTTGCTT	ENST00000278572.6	+	4	304_305	c.286_287insCCTTGCTT	c.(286-288)cccfs	p.-98fs	RPS3_ENST00000530164.1_Intron|RPS3_ENST00000527446.1_Intron|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000526608.1_Intron|RPS3_ENST00000524851.1_Intron|RPS3_ENST00000531188.1_Intron			P23396	RS3_HUMAN	ribosomal protein S3						activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						AACAGGATATCCCTTGCTTCCT	0.460													56	87	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49425220	49425220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:49425220delG	ENST00000301067.7	-	39	13267	c.13268delC	c.(13267-13269)ccafs	p.P4423fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGGGCACATGGCTCTTCCCG	0.622													30	57	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49434781	49434785	+	Frame_Shift_Del	DEL	GCACA	GCACA	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:49434781_49434785delGCACA	ENST00000301067.7	-	31	6767_6771	c.6768_6772delTGTGC	c.(6766-6774)gctgtgcctfs	p.VP2257fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGCTCTCAGGCACAGCCAAGTTAT	0.634													46	95	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													6	6	---	---	---	---